Interview with Serina Heinze

June 2021

Our first interview is with Serina Heinze, age 20, who lost her older brother Tyler and younger sisters Katie and Faith to NPC. We spoke with Serina over the NNPDF Conference weekend. Serina is an inspiration within the Niemann-Pick community and leader within our Unaffected Siblings Group.

When did you first notice that there was a problem with your siblings’ health? Did you pick up on it yourself or did you find out through your parents?
So, just a little background, I had three siblings who were diagnosed with Niemann-Pick. My parents were actually the ones who ended up picking up on it with my older brother, so I didn’t really see it because, my brother was around one or two when they started noticing some things going on, they were like “Some of his activities, he’s not progressing like most other kids his age.” And that was before I was even born. My parents noticed it, I was born, and then both of my younger sisters were born, and then they finally ended up getting a diagnosis when my youngest sister was a baby. So, I didn’t really get to pick up on that, since I was only four.

When your parents told you about the diagnosis, do you feel like you were given a lot of information? Or did you have to ask about what was going on?
I think my parents were very open about letting us kids—my younger sisters, my brother—just letting all of us know what was going on. They didn’t want us to be in the dark about anything. And, of course, a lot of the things they were explaining to us were dumbed-down, so instead of saying “Your siblings have an enlarged spleen, and a neurological this-and-that” and all those big words, they’d say like “Hey, your siblings can’t really do the things that you can do anymore. Being able to walk is going to get harder for them sometimes, or they’re not going to be able to dance with you anymore.” So kind of dumbed down, but my parents really explained that all to me. It’s something big in our life, it is probably the biggest thing in our lives, and to be able to advocate for Niemann-Pick, and knowing what it is and sharing it with others [is really important.]

Do you ever do your own research into Niemann-Pick, or do you mostly rely on the first-hand experience with your siblings?
For the most part I relied on the firsthand experience and just hearing what my parents had to say, especially because we have been so involved with the foundation for so long. At times I would do my own research, if I had heard of some new thing, or just if I didn’t know what something means. Especially as I’ve gotten older, and going off to college, I guess since I’m not with my parents as much, so it’s not as easy to just ask them “Hey, what does this mean?” So, I will take some time to search some stuff. But for the most part it has been my own experience and watching it firsthand from watching my siblings and watching other kids who have it as well.

On those occasions where you have done research, have you found the information easy to find?
It’s hard to find sources outside of what the foundation gives, I think that every time you type in ‘Niemann-Pick disease’ the foundation website comes right up. I’ll look through the newsletters, I think I get that through email all the time, so I’m getting that information, but trying to find information outside of the foundation, it is a little bit harder. For the most part everything I get is through the foundation.

How do you explain to your friends what Niemann-Pick disease is?
So, I have this little spiel, basically, that’s just planned for everyone. So, I basically just start off, I say it’s kind of like Alzheimer’s for children. You start off growing, and then you get to a certain point and kind of start just going backwards in all of your abilities. So, my siblings were able to run, dance, play basketball, do that type of stuff with me, and then there became a point where they started to lose the ability to walk, the ability to swallow, the ability to do those extra things. And then I’m always open for more questions, we’ve just always been so open about it.

Is there anything you wish you had known or anything you wish was available to you when you first learned about the diagnosis?
The first conference that I went to, there was a sibling meeting like there is now, but a couple years after that there weren’t any, and that first meeting wasn’t so “hey, we are all siblings, let’s talk about it,” it was more just the siblings and the parent that you wanted to bring and then there’s a social worker there, and it was very high stress. I wish there were more resources for the siblings. I know that we do have the sibling group now, but most of the time, for the most part we just talk at the conference, we don’t stay connected afterwards, so I think it would be really coo

l if there were some resources where we could stay connected longer. And, it could just be on us siblings that we’re not taking the initiative to message each other, and we do talk to each other every so often, but I think just having a resource for people coming in who have no idea what this is or what is going on with their sibling, just having something available for them to understand it. I don’t know what exactly that would be, but just something to help younger people.

What do you think has been most helpful about having the Unaffected Sibling Group?
I think the group is really useful, we’re making connections, I’ve met a couple other siblings who I have randomly called up, they have randomly called me when they’re having a rough day, or are just like “I don’t understand this, how did you get through this in the past,” or “are you going through this now, can I lean on you,” and just how can we support each other type of thing. And I think that that has been one of my favorite parts about the sibling group, and being able to find those similarities in our stories. Not a lot of people have gone through what we go through, like I have lost all three of my siblings to Niemann-Pick, and not a lot of people understand that and the heaviness that comes with that. Being able to connect with people who understand the loss of a sibling, but also what came with the disease, being able to have both sides to those stories and being able to connect with them is definitely one of my favorite parts of having the sibling group.

How does Niemann-Pick affect your daily life?
It doesn’t directly affect me with the physical labor anymore, but it’s something that I think about every single day, because I am a carrier of the gene so I could pass it on to my children. It’s something that I lived with and I think about my siblings every day, so it’s definitely something that is always on my mind. It doesn’t necessarily mean it’s a bad thing, it doesn’t really bring me down. It’s nice to understand the community that we have within Niemann-Pick, a lot of these people I’m so excited to see every year. I wouldn’t know them if it wasn’t for Niemann-Pick, and I do think about a lot of people that I know. I have them on my Facebook and I have them on my Instagram so getting to see them every day, that definitely affects my everyday life. Being able to see the other kids smiling makes my day happier, and being able to pray for those that aren’t really having the greatest of times. So just being able to keep up to date with what’s going on within the community day-to-day is very helpful and I love it.

What advice would you give to others who learn that their sibling has Niemann-Pick?
I would say reach out. We have the sibling group, and I guarantee every one of the siblings in that group would be more than happy to connect with you and to help you with understanding what’s going on. Because sometimes the things that you’re living through are different than what your parents are living through and what your sibling is living through, and we all have our own stories, but you can mostly relate to someone who is a sibling as well. So just reach out, find those resources. Try to live every day to its fullest, that’s something that we lived by with my siblings, just always finding the good parts of every day, no matter how hard it may be. Living in the shadow of your sibling, because that does tend to happen and medical needs do come first at times, so just finding the bright side of everything.

 

For more information on the Unaffected Siblings Group contact Family Services Manager, Laurie Turner at familyservices@nnpdf.org.

Supporting one another. Supporting our community.

Interview with Christopher Sousa

June 2021

Meet Christopher Sousa, age 19. Christopher’s brother, Connor, is 17 and was diagnosed with Niemann-Pick type C in late 2011.

Can you tell us a little bit about yourself and your sibling?
I am Christopher Sousa, I’m nineteen… Connor is seventeen. So, he wasn’t diagnosed until December of 2011, he was eight and I was ten. And there were clues, like when he was four and he had liver problems, we thought it was Biliary Atresia, and when he was seven weeks old he had surgery on his liver.

Do you remember being told when Connor was diagnosed or learning about the diagnosis?
Yes, I do. I don’t think I was really told much since I was ten, so I was just pretty much told ‘he has this thing, and he’s probably not going to live as long as you or other people.’ And that was pretty much it.

And before the diagnosis, did you notice anything or any symptoms on your own, or did you find out mostly through your parents?
When Connor was in pre-school my dad thought there was something wrong, and my mom just said he was being paranoid. But then in kindergarten I think they both noticed something was wrong, because I remember when he was in kindergarten there were a couple days where he had to wear an EKG. Of course, cataplexy was super obvious, but there’s nothing that seems necessarily wrong with that, it was just like ‘oh, he fell over because he was laughing.’

Is there anything you wish you had learned or were told when you first learned the diagnosis?
It’s kind of related, but I do wish I had been tested to see whether or not I’m a carrier at the same time that he was tested. Just to know, because that’s still something that bothers me now since I haven’t been tested.

How does Niemann-Pick affect your daily life, for you personally versus your family as a unit?
I don’t know, it sort of becomes a fact of life. I just don’t have anything to compare it to, other than I guess my friends. But everything, when you compare it, isn’t going to be the same.

Does Niemann-Pick affect your daily routine in any way?
I remember feeling disconnected from other people my age kind of, when I found out, because suddenly there was a lot more responsibility. You were now spending parts of your day taking care of your brother instead of going out, to the park, having fun, and hanging out after school.

How do you explain what Niemann-Pick disease is to your friends?
It’s not really something that comes up often. I just tell them he has a disease, he was born with it, and it only gets worse. He used to not be as bad as he is now, he used to be like us until he was about eight or nine. So that’s kind of what I tell people.

In general, do you think you get enough information about Connor’s health or about Niemann-Pick in general?
I think so, especially now that we’re part of NNPDF, I think if we weren’t there would just be a lot less information. Also, it’s just so good having other people around who understand.

Do you find that most of your information about Niemann-Pick is given to or shared with you, or do you ever seek out information on your own?
I think it’s definitely a mix of the two, seeking and receiving. I get a little bit from my mom, and a little bit from NNPDF emails, so I go in and read the links. But I’ve also looked into it more in the past, especially in high school, on projects dealing with biotech.

What advice would you give to other young people in your situation when they first learn of their sibling’s diagnosis?
Definitely, there’s a lot of times where it’s really easy to be angry or upset, and you just have to laugh, just be like ‘how stupid is this?’ When I was younger I was really angry about it all the time, and I never really took the moments as like ‘oh, he made a mess, that’s funny’ versus ‘he made a mess, now I have to clean it up.’

Is there anything related to your brother’s illness that you personally are in charge of handling or feel most responsible for?
One of the things that I do most days is a breathing treatment that he does now. It takes about an hour, he does it twice a day, and I’m usually there doing it. As they get older they have trouble swallowing, and they get fluid build-up in their lungs, so it’s to prevent that.

Are there other things you and your brother share, any activities you like to do together?
When we were younger we used to watch movies and listen to music together all the time… now not as much. His favorite song, we would both just yell it, was “We Built This City” [by Starship] and he definitely, definitely loves watching The Muppets.

For more information on the Unaffected Siblings Group contact Family Services Manager, Laurie Turner at familyservices@nnpdf.org.

Supporting one another. Supporting our community.

Pender Family Journey

June 2021

Amy Pender – Wife to Dallin and stay at home Mama to Sienna (9), Isabelle (6) and Leo (2) raising our family in Arizona. In my free time I enjoy spending time with family, the outdoors and currently going to school for my Real Estate License.

November 2020

Life With a Child With a Rare Disease

Wow! November already! Even though most of our year has been spent at home due to the current events in our country. Time really has flown by. We are still full time Homeschooling (we even recently created a “homeschool room”. Isabelle attends gymnastics weekly and recently some of her friends have joined as well! The temps are cooling down in AZ, so now its time for us to enjoy the outdoors and take our school time and learn in the beautiful weather. We hope to make a few trips to Northern Arizona this fall and winter and enjoy the snow!

We started a new path this month with Isabelle and her journey with ASMD. She recently started seeing a Child Trauma Therapist. We have always had our suspicions with certain occasions or situations, but recently due to all our time at home things were started to stand out and since ASMD is a lifelong diagnosis, this is something that she will have to learn to cope with forever. She was diagnosed with PTSD from Medical Trauma. Isabelle at around 1 years old started her diagnostic journey that took almost 18 months to determine her condition. We lost count a couple of years ago with how many blood draws, evaluations, doctor appointments, but somewhere in the 100s. Of course, there was going to be some sort of emotional response but since she was basically a baby/toddler at the beginning of this journey, we never really endured her thoughts or emotions about the situations. We love the therapist we are working with, all of her therapy is through play, so it is something Isabelle loves to go to, which was our first concern, another doctor or another appointment, she isn’t going to want to go, but thankfully with it being play therapy she’s all in. This part of the journey really has really opened our eyes and a new understanding of what life with a child with a rare disease is. We once thought we would be all better once we got a diagnosis, well that didn’t happen, so then it was once we got access to join the clinical trial, well that has been a permanent band-aid, but we have now learned of the emotional aspect of the disease and the realness of it for Isabelle. 

We wanted to share this part of our journey and Isabelle’s story because we feel like the mental health aspect of the disease hasn’t been talked about enough. Especially with a growing child that was diagnosed at birth yes everyone thought we/she would be lucky because she wouldn’t know differently or wouldn’t remember the early years. Well, we have learned quite the opposite. I would love to hear from others and what they do for their mental health in regard to having a rare disease or a child with a rare disease.

October 2020

A Journey of a Thousand Miles

It is a journey we never signed up for, a journey we never in a million years saw coming but it is a part of our journey. It’s been years since we were introduced to a rare disease called ASMD or Niemann Pick Type B disease. So much to learn, so many questions and so much unanswered still to learn. The what ifs constantly creeped in. Isabelle was meeting her milestones, but behind others her age but always has shown such determination to keep up with others (she is competitive like her Dad). She thrived in her Physical Therapy appointments always impressing her providers. As parents, we tried not to put her in a protective physical bubble but with ASMD the unknowns were always much larger than our confidence in Isabelle’s physical abilities. Then a glimmer of hope and possibly change to our scary rare disease bubble happened, the trial happened, the medication happened, and changes were happening. 

Our once tight little protective bubble started to diminish. Isabelle’s strength was overpowering our fears of accidents, falls, crashes and boo-boos. You could see body changes, her once super enlarged tummy disappeared, her legs and arms once thin and fragile looking, now gained muscle tone and thickness. Her stroller that once went everywhere with us was hung up and put away in the garage, she was walking everywhere! 

She had blossomed into this fierce delicate butterfly. She is strong and tough like any other kid her age, maybe faster, stronger, and tougher than most. She recently was enrolled into gymnastics, following her “big sister” and friend Kaila (also with ASMD). She has viewed videos of Kailas and wants to do what she can do. We signed her up, she was evaluated, and has already skipped the first level! Her determination is always fierce, she is super competitive with herself, wanting to land that cartwheel, or that back bend. Seeing her body being able to do things we once thought would never happen, we sit in awe and watch every practice and every move she is doing. To think that she once was labeled “failure to thrive” and struggled walking a few steps to now she is walking across a high beam and flipping over on a vault!

We have learned with a rare disease diagnosis there isn’t one typical path you follow, there isn’t a box that you will be put in, and that’s where you will stay (a lesson we have learned for all of our kids). It is a journey of a thousand miles, with bumps and turns along the way. But with a child with a rare disease they will be the ones to show us the way to live. We will apply the lesson of loving the journey and not looking for the destination and take it as it comes and continue to focus on what makes us happy and how to best set up Isabelle for success in what makes her happy in her life.

September 2020

Back to School

Another month has passed us by during the pandemic. A lot of changes we all have had to endure as we wait for the world to return to normal. For Isabelle, she didn’t get to finish her first year of elementary school. She was doing so well, and it was one of the best outlets she had going for her since being a part of the clinical trial. It was something that she got to do that was like “normal”, like the rest of the kids. 

Although, as spring break was ending, somewhere in the system, paper work was missed and we were flagged as being truant (missing too many school days per the school district policy) due to Isabelle either needing an infusion that couldn’t be accomplished on the weekend, or it was a quarterly visit, or she simply caught some yucky germs and we kept her home to rest and not pass around germs. It was another unfortunate experience that comes with having a child with a rare disease. I will spare all the detail’s but the letter was pretty nasty. To some reading this, you think ok no big deal but to a parent that has had to fill out paper work after paper work and have it all filed correctly to then get a nasty gram in the mail later accusing you of truancy for your child who was missing days due to get lifesaving treatments- your patience level begins to wear thin. 

Unfortunately, Arizona is still considered a hot spot and has had to make some serious decisions what return to school looks like. So as a family we made the choice to go a new route with education and homeschool our school age kiddos. 

Another big change to what is typically, a normal childhood “right of passage” is now looking different once again for Isabelle. However, we have learned to look at the glass half full rather half empty. Our oldest daughter first pointed out that now that we are homeschooling, we won’t have to worry about Isabelle missing any school and getting nasty letters. Good point! Now, we are able to be 100% flexible with her infusion schedule and not have to worry about missing anything academically for this school year.

Isabelle misses her dear school friends and in-person school experience’s, but we are also now seeing her thrive and get the one on one attention academically. We will make the most of every day with Belle and support her growth. 

August 2020

Milestones!

Isabelle hit another milestone losing her very first tooth! While well behind her sister and friends first tooth coming out, Belle continues to learn delayed gratification as she waited and waited with anticipation for the tooth fairy to visit her pillow at night. Watching her reaction to finally be one with the tooth fairy arriving was so worth the wait. It seems not only for her but for us as her parents – every milestone just has even more meaning behind them.

Her tooth was beyond ready to come out, but she wasn’t comfortable with us trying to pull it out. So, we watched several videos online of creative ways to take out your first tooth. She settled on the old “tie it to a string and a door and slam it shut trick”! She didn’t even flinch or let out one tear – just celebration and lot and lots of giggles! We LOVE her giggle, everything is always a celebration or a party with her! Her bravery continues to shine as she takes things in life head on with a smile, more questions, but ultimate faith that she will be ok through it all.

And yes, as soon as she lost the first tooth, she is already anticipating the 2nd. Isabelle continues to teach us every day as she learns her way each day.

July 2020

Pender Family Journey

Hello, we are the Pender Family! Our 6-year-old daughter, Isabelle Faith was diagnosed with ASMD in June 2016, two days after turning 2 years old. We were on the diagnostic journey for over 18 months. Countless doctors’ appointments, blood draws, and specialists and no answers. It wasn’t until I found Niemann-Pick disease after months and months of doing my own medical research that we pushed for this to be tested again (they had ran another test earlier that came back with a false negative, thus moving this way down the list of possibilities). Finally, after completing a genetic panel was Isabelle diagnosed. Luckily, we tapped into the ASMD community immediately, even before we had a confirmed diagnosis. We learned of a Pediatric Clinical Trial in NYC through more personal research. With much persistence, about 6 months after her confirmed diagnosis, she secured a spot. As of March 2017, Isabelle has been receiving the clinical trial study drug Olipudase Alfa every other week intravenously. She has also helped tremendously in this study going through every test, blood draw and measurement they have asked to support this getting approved.

Isabelle recently graduated from Self Rescue Survival Swim lessons (ISR). Her coach really didn’t understand Isabelle’s medical condition that was listed on her medical background since Isabelle poses as a “typical child” in appearance. During Isabelle’s first lesson the coach commented on Isabelle’s strength and stamina for a 6-year-old, saying she was amazed at how strong she is as a beginner swimmer. Isabelle graduated at 4 weeks from an up to 8-week course!!

We told the coach we were so happy to hear her accomplishment and sat a bit in shock when thinking about her journey and beginning. Isabelle, since 1 years old had hypotonia, was unable to walk unassisted until 2 years old and was considered “Failure to Thrive” before her accurate diagnosis. Her belly was extremely extended, and she wasn’t creating any body fat or muscle due to the nature of the disease. Isabelle attended weekly Physical Therapy for strength and independent walking for over 18 months. Slowly after her infusion started we noticed a change in her strength, energy, physical stamina and appearance. 

We used to think that Isabelle would always be somewhat delayed in any physical activity and potentially behind the curve. She had so much to catch up on, especially at an early age (not walking unassisted until 2.5 years old). It’s hard to express in words the pure joy we feel from seeing your child shift from the inability to walk to seeing your star graduate from an intense physical swimming program ahead of schedule. We are so happy when Isabelle is perceived and treated like a child and not one that has a “medical condition” or limitations. She passed this all on her own with hard work and listening to her coach and rocked it out showing us there are no limits to what she can do when she puts her mind to it.

Supporting one another. Supporting our community.

McGlocklin Family Journey

June 2021

Sara McGlocklin – Mom to Emily (7), Marian (5, NPC) and Adam (1). Founder of Hope For Marian with husband Paul. Fighting NPC together, elbow to elbow, from our Southern CA home with hope, grit, and lots of social distancing time.

November 2020

Hi all – I’m sorry for being one blog late. We’ve had a lot of irons in the fire these last coming months – some a little too close for comfort! In September we were under evacuation warning from the Bobcate Fire and left our home for a few days because the smoke was making it so difficult to breathe in our area. We packed up all our valuables and stored them safely at my dad’s and went to San Diego for a few days. The kids loved the adventure but it’s hard to be away from home, especially in the age of virtual learning – not really compatible from a hotel room. 

Thankfully, the fire was able to be contained without destroying any homes in our community, but watching the flames get closer through our windows was quite unsettling. We also are looking to move to a one-story home. Marian is doing well but she had a fall down the steps a few weeks ago, and we’re pushing to accelerate our plans to get into a one-story home. We’re in escrow on our home and also a new home – fingers crossed it all goes forward smoothly!

We recently did Marian’s triennial IEP. She’s holding steady in her percentile ranks overall. In exciting news, her visual motor integration skills, which were extremely low last year, have improved dramatically considering where they were last year. She’s made huge improvements with her tracing and prewriting skills. We did hear muscle weakness and endurance concerns from almost every provider. It’s emotional to take this all in but I have to remind myself there was a very real possibility she might never have even walked or talked at all. Every step her whole life has been hard fought for and we’re really grateful for each one. 

There’s also been a big break through with her IT treatments. We were hitting a wall where Marian was potentially going to need to go back to anesthesia to receive her treatments. We worked with child life at the hospital as well as her amazing anesthesiologists through medical play and she’s done the last 3 treatments completely medication free. Zero sedatives, relaxers, etc. It’s an incredible turning point and we’re so so proud of her. During her treatments now, she sits up and holds her medical play doll and follows along as the doctor to her doll as her doctor gives her the medication. It’s an incredible sight. And of course, this month held Halloween – which involved two costume changes, zero trick or treating, one haunted house with close friends, lots of fun and even more candy. 

Happy Thanksgiving to all!

September 2020

Happy Birthday Marian!

Marian is 5! What a huge milestone for her to reach. Every NPC course is different, but for Marian with early symptoms and developmental delays in infancy, we didn’t know if she’d even live to reach 5. For her to be turning 5, and be walking, talking, eating birthday cake, singing and dancing is just really something we are soaking in and feels like a huge achievement. She celebrated by requesting and receiving many Barbies

I’ve been thinking of all the effort and support it’s taken for her to reach this day. All the doctors, scientists, community, PTs, OTs, speech therapists, NPC families and more. It can make your head spin. Above all, this milestone shows us we do have the tools to improve the lives of our NPC loved ones, both in quality and length. As more comes along, my hope is to really see the reality of this horrible disease continue to transform for future patients. For now, we are so grateful for what we can squeeze out of every resource currently available.

Another big event is Marian began Transitional Kindergarten this month via distance learning. Distance learning is exhausting, but Marian is motivated, and she has a caring and talented teacher cheering her on. Our schedules are starting to feel busy even though we are home most of the time between virtual services and two kids distance learning. We did escape to the beach one day this month and Marian played in the waves and built sand castles. That’s what the end of summer is all about! 

August 2020

July has been an adventure. My husband Paul got very ill at the end of June with a high fever, headache, sore throat, fatigue, dizziness, etc. We all were tested and were negative. No one else got sick in our house except Marian who got a low fever. Paul actually tested twice, and both times came back negative. We were pretty freaked out and stayed home for two weeks to be safe. Since we all tested negative multiple times Marian was able to continue with her treatments and didn’t have to miss, which was a huge relief. We feel grateful that whatever this was we all came out the other side healthy! Now on to face the next several months of this (blah). 

This month also brought the news that the clinical trial for adrabetadex is ending and everyone will be transitioning to compassionate use, which was already what Marian participates in. This was emotional and stressful news to absorb as it brought up a lot of fears of what Marian’s future will hold should she lose access to this drug that is giving her a healthy and happy quality of life. We are leaning in with our community at this time as we press forward for the FDA to move forward. It is frustrating as a parent that we have the human data in our home every day that this drug works in the form of a bouncing and bubbly little girl. 

We were able to share our story at the NNPDF Conference and loved getting to participate virtually in all the presentations! Also, in the NPC world, we are really excited that Orphazyme filed their NDA with the FDA, we have our fingers and toes crossed for the first FDA treatment for NPC to be coming down the pipeline very soon!!

Marian’s new elementary school will be going all virtual as we are in LA County and CA has ordered counties on the state “watch list” may not operate in person. This is creating a host of challenges with her scheduling and how she will be able to participate and learn virtually. I think for any 4 or 5-year-old virtual learning is almost impossible, when you fold in learning difficulties and NPC, it feels totally impossible. At the same time, I do think it is the right thing to do from a public health perspective, but we’re realistically looking at this continuing for most or all of the school year in LA County. I emailed Marian’s school principal on the brink of being completely overwhelmed and she responded kindly and helpfully. While this time is bringing a lot of challenges, we are very thankful for all the people who help to support Marian in many ways that make her life so full and joyful.

And now, on to the joy! While this was an adventurous month, we also have had so much fun. After our two weeks at home, we went and visited Paul’s sister and her family to say goodbye as they’re leaving for a year to live overseas for a military assignment. The kids loved getting to see their cousin and we were able to go to a military beach that was not crowded and have a really fun day playing in the waves (although the girls did have to get out because there was a large shark spotted nearby!). The girl’s dance studio also put on the most beautiful socially distanced dance recital. The kids all practiced over zoom and then performed in blocks on stage. Marian didn’t participate as the zoom practices were not a match, but she loved cheering her sister on from the audience. Emily danced beautifully! Lastly, this is a small thing, but Marian has discovered a love of the iPad game “My Town” – it’s like a virtual dollhouse, and while this seems small, I’m so impressed watching her navigate all the choices in the game – a lot of which I can’t even figure out! She’s definitely continuing to make progress and thrive during this crazy time. 

Let’s see what the next month holds!

July 2020

Marian’s Journey

Hi! We are so excited to share some of Marian’s journey living with NPC over the next few months. A little bit about us, we live in CA in a suburb of Los Angeles. Marian was born with hypotonia and fell behind with gross motor and speech before her first birthday. She was diagnosed early with NPC at 18 months and she started VTS-270/adrabetadex at 19 months and it’s been amazing for her. No new symptoms in over three years! She’s turning five this August. Now that we are introduced we will get to our first NNPDF blog entry 

Well, what a few months it’s been during this crazy Covid time! We took Marian out of her preschool in mid-March to begin social distancing, this has been sad for us since Marian will begin TK in the fall and we will miss her preschool tremendously. Her preschool has been a huge source of community and support for us, and Marian shines there. We have a lot of jitters about her beginning TK and hope school continues to be a happy place for her. She is excited to go, but last night was asking us if her preschool friends will be there, and we had to explain no. I could see a bit of nerves cross her face, but she always impresses us with her strength, optimism and resilience. Our older daughter, Emily, actually expressed concern about Marian beginning in a large school and having NPC. We are so grateful Marian doesn’t have many NPC symptoms, but it still does impact her everyday life in small ways since she has developmental delays to varying degrees in gross motor, fine motor and speech. We will enter this new phase for her a bit apprehensively but also with confidence that she can connect to another special community. Every time we’ve given Marian an opportunity to shine she blows us away, and I think we as her parents are probably more nervous than she is!

This last week Marian had a couple big accomplishments. She did a week of swimming lessons and can kick independently for several feet in the pool towards the instructor, so exciting to see. She was pretty cute standing at the edge of the pool and belly flopping in (since she can’t jump forward) and then kicking herself half way across the pool to the instructor. She was super proud and came up each time squealing with a hooray. Her other huge accomplishment was she stayed awake for her IT injection of adrabetadex for the first time. We’ll keep trying it awake to see if we can transition to this method for her. So far so good but if it becomes too difficult or scary for her we will return to anestethia. Because of Covid Marian has to get a Covid test every two weeks, which is uncomfortable and causes some stress, like everything she inspires and amazes us with her approach to challenges.

This summer we are looking forward to slowly opening our circle up a tiny bit. We are still being pretty careful. Marian’s ballet class is doing a small outdoor recital and we are all looking forward to that. Definitely a highlight for her any time she gets to dress up and dance! We also are having a ton of fun playing with our new addition, baby Adam, who we had via IVF and PGD testing to not pass NPC on again. Marian is loving getting to be both a big AND little sister and we feel very lucky. Will post more updates next month!

Previous
Next

Supporting one another. Supporting our community.

Lazarus Family Journey

June 2021

Barbara Lazarus – I am a lifelong resident of Connecticut, married Mom of two adult sons and a semi-retired speech-language pathologist working with young children. To relax, I enjoy baking, reading and hiking.

November 2020

Traditions 

A medical event that happened many years ago in our family introduced to us the concept of “the new normal”. I had not heard this term before and it resonated at that time in our lives when there were adjustments to be made and changes to deal with. At the time we were raising two teenage boys, dealing with aging parents and my husband was running a business which, in itself, is challenging so when this was added we took a collective breath and forged on, knowing that eventually we would adapt and fall into our “new normal” routine.

I bring this up because that is often how I feel about this NPC journey we are on, most especially during the Holiday Season. When our sons were first diagnosed, and we were coming to terms with the changes this would bring, I went through a gamut of emotions (and sometimes still do) from disbelief to anger to sadness to (almost) despair. I try to mitigate these feelings and I’m usually successful but when October – November – December rolls arounds, it’s a bit more challenging. For our family, as for many others, these months are filled with events including birthdays (lots of birthdays), Thanksgiving, Christmas and New Year’s. Naturally, along with these comes traditions and our family is heavy on tradition. In the first year following diagnosis (AD as I refer to it, After Diagnosis) my husband and I often found that we didn’t want to go through all of the normal things we usually did. The anger and sadness around getting together and celebrating with others, who sympathized but could never truly understand how our lives had been altered, was often just too much and we chose to withdraw. But as we adjusted, we realized that we would have to find our “new normal” around this as well; so we are working on it. I’ll share some examples.

One big celebration we have at our house is an annual pumpkin carving party, started many years ago when my kids were young, and everyone bought them pumpkins…so many pumpkins. That year I decided to gather the neighborhood kids and adults and let them have at it and a tradition was born, some years with big parties and others very small. We’ve persevered through teenagers, college years, health scares, new family members and this year’s Covid Carve. Things have changed along with our feelings and this year was much, much smaller but at year 28, we decided we need to celebrate what we have when we can and so….

THEN….

NOW…. 

Christmas Eve has always been about getting my husband’s family together to celebrate the traditional Italian way, with Aunts and Uncles and nieces and nephews and cousins. The kids always had a great time at my sister-in-law’s with scavenger hunts, pass around games, and Christmas riddles. But in 2017, we just couldn’t bring ourselves to share in the joy, as there was just so much sadness with seeing cousins moving on, getting married, having children that we weren’t ready to face. So, we decided to give ourselves permission to try a new experience and maybe make some new memories. Rockefeller Center and Little Italy added to the list! We are still learning how to manage our emotions and feelings around these holidays and traditions but have come to understand that it is important to grab all the celebrating we can while we can, so we persevere – just like the NNPDF motto – develop our “new normal” and enjoy the moments as best we can.

Happy Holidays!

October 2020

Change of Seasons 

It is with so much reluctance that we leave summer behind and move on to fall and winter. Summer was good for the Lazarus soul this year. After spending months inside in ‘lock-down’, we were finally able to get outside and took every opportunity to live outdoors. Swimming in the pool, cooking on the grill, dinners on the deck, working in the garden, and eating all those things only Northerners truly enjoy in the summer like vine ripe tomatoes and corn on the cob fresh from the garden. And don’t even get me started on lobster rolls and caprese salad! But time for pumpkin spice, scarves and nippy temps. (Okay so Starbucks pumpkin spice lattes help a little).

As we move into September and see all of the ‘back-to-school’ activities in this very strange time, I feel for all of the families that are dealing with hybrid, in-person, remote and every other combination out there. As a former public school SLP, I feel, too, for all those teachers and staff that are trying their very best to make it all work. But mostly I feel for “our” kids. The ones who can’t access remote or learn through a 7 inch screen or need and crave in person learning. But back to doings in the Lazarus house which looks very different with adult children with no school to mark a new beginning.

For us the change of seasons means (more) yard work but in cooler temps. It means more nights around the fire pit huddled under blankets til it gets just too darn cold!

And as we now enter the season of gratitude, I think about the things, but mostly people, we are grateful for the most in this journey.

Daniel has been able to get back to a routine of sorts with OT and PT and we could not be more blessed to have found Deb and Vito to help us along. They are so knowledgeable about this degenerative process but more importantly kind and patient when we all know how difficult that can be with a challenged adult. He has started back at the Rehab Gym with Rob, who brings a specific kind of knowledge as an exercise physiologist, but also knows firsthand the difficulties of managing a family with an impaired adult as he has a child with Prader-Willi Syndrome. And we have been fortunate to have an infusion nurse who is also all of those things and fun to be around as well. Kelly is competent, caring, thoughtful (bringing Daniel all kinds of sweets that she knows he loves but rarely gets!) and instinctively knows how to draw Daniel into a conversation – not an easy task these days with his language issues – especially when the infusion is 9 hours!

David has been fortunate enough to be accepted into the latest EAP available and we made a one-day family trip to Boston to begin. Again, the professionals we encountered, from the doctor to the nurses to the assistants were amazing in their kindness and attention. They made the anxiety around starting something new much easier and smoother, allowing us to relax, enjoy the day, and a rare outdoor restaurant dinner.

All of this has allowed him to continue to go for his daily drive which usually involves Axel and DD coffee. And to work occasionally with his uncle in construction, keeping him active and engaged. This Uncle has been another blessing for both boys as he struggles with seeing us deal with this horrible disease as a family but mostly as he sees the changes in the boys. Though he feels he is often at a loss to help, his weekly Sunday breakfast runs with them and his attempts to keep them moving allow us a little bit of breathing room from the constant supervision required.

There are even times when we, as caretakers, are able to relax and breathe and regroup. I was able to do this with a group of friends recently spending time hiking, eating and laughing for a few days. We always hear “take care of yourself so you can take care of others” but rarely get a chance to do it. Gotta grab it when you can! (And thanks to NNPDF I was able to carry my lunch!)

So overall, though we don’t look forward to being inside and cooped up for the next few months, we try to look at the positives in our lives. The most important blessings for us always come back to our families and friends, who are there to help in any way they can. As I think back on our journey so far, I am so incredibly amazed at the humanity and kindness and patience and thoughtfulness and care we have encountered so far and know that all of these people – the doctors, the nurses, the therapists and the helpers – have been placed in our path to make this truly devastating journey a little bit easier. I know from my interactions with others in this ‘club’, that that really is what helps us all get through the days – one at a time. Here’s to a safe and happy change of seasons for all!

September 2020

Silver Linings 

As with so many families during these unusual and unsettled times, the Lazarus family has stayed close to home, adjusting schedules and venturing out mostly for groceries and the occasional takeout meal. While retirement affords you lots of downtime at home, we were used to enjoying going to a movie, pizza at our local family restaurant, and even a yearly professional baseball game in New York (go Yankees!!). All gone this year with not a lot to look forward to with one exception. And quite the exception at that. Here’s the story – and the adventure.

Over the winter, my son David was accepted for a short trial at the Mayo Clinic. We weighed the pros and cons of traveling to Minnesota in the winter (brrrr…) and decided, since he and I had the time and he was able to do something positive, we would go for it. It was only 5 overnight visits. What could go wrong besides snow, ice, delays? Well, none of that stopped us but then along came – you guessed it – COVID. We had 3 successful visits and we were getting used to the flights, the restaurants, and having some mother-son bonding time even if it was in the cold. We had scheduled our March and April visits, looking forward to a few warmer trips.

That all came to halt, and those two visits went virtual, but we knew we would have to make one last in-person visit to wrap things up and do the things that can’t be done over a computer. We hoped for a June date but when I tried to book flights and hotels around the hospital appointments it soon became apparent that COVID had managed to make any reasonable trip time impossible. Unless we wanted to travel 20+ hours for a 2-hour visit, it wasn’t going to happen in June. So, the project manager and I settled on a July date that seemed to work and left it at that. But the trial sponsor did not leave it at that. Apparently, the sponsor had a hard and fast deadline of June 30 in order to get all of the data and information in. When the manager called me the second week in June and said the sponsor wanted us there in June, I started to protest but she stopped me and said there was a proposal if we were willing to hear them out. I listened. And I could not believe it. They offered to fly David and me on a chartered jet from Connecticut to Rochester for the day! Just us, one day, out and back. Since we are not a corporate family, we had never flown on a private jet and, since we needed to meet our obligations and we didn’t want to pass up our one chance to live it up, we went for it. They even flew us from the small airport in our town. Eight minutes from touchdown to our door. It was one for the books for us and such a great adventure.

Sometimes this journey has surprising twists and turns and though I wouldn’t choose this path, some twists can have a silver lining – or at least one up in our own private clouds! (Oh, and for those of you of a certain age, I even had a Julia Roberts moment when the limo brought us right up to plane on the tarmac – just missing the gown and ruby necklace!)

August 2020

Turning Won’ts into Will’s and Can’ts into Can’s

by Barbara Lazarus

For so many of us on this NPC journey, the reality of our daily lives and the future seem, at best, uncertain and, at worst, bleak at times. When we received the diagnosis three years ago for our adult sons, one of our first reactions centered around the “won’ts” and “can’t’s”. By this I mean we began to think of what our sons most likely wouldn’t or couldn’t do, see, or experience that most of us take for granted. Although they both graduated from college, we were faced with the alternate reality beyond that which included things like getting married, having children, owning a home, and becoming independent successful adults. For parents of younger diagnosed children, I’m sure that reality is even more upsetting as they face the uncertainty of all those childhood milestones and memories that potentially will be missed. Although we had not given up all hope on these things, it was time to adjust our thinking and we try to do this routinely, in big and small ways, as we move through this journey.

Turning “won’ts into a “wills”
Our younger son had always expressed the desire to have a German Shepard, but he knew that was a no-go in our house after we’d already had two family dogs as they were growing up. He would add “when I own my own home…” to the wish. Knowing this may not happen it was adjustment time…. we have now added our newest member of the Lazarus household, with all the benefits and tribulations that come with a new puppy and growing dog. Enter Axel. Although he is work, as all pets can be, he has added immeasurable joy and happiness to our family as we work together to train and play with him, laughing at his pool antics, his desire to be a “lap-dog” (at 90 lbs!) and reveling in his loyalty and friendliness. He has become a positive note in our sometimes not-so-positive lives. Glad we turned this one into a “will”.

 

 

 

 

 

 

 

 

Turning a “can’t” into a “can”
We look for ways daily to keep both guys active, especially in the age of Covid. Our older son has restarted his PT and OT sessions with the goal of getting back into the Fitness Gym and working on that balance and coordination. Our younger son works in construction part time, in a modified way, with a family member. Beyond that, we keep them both as busy as possible around our home. Most recently, we needed their manpower to help with a large branch that came down in the front of our yard, blocking traffic. Took this team of three to get it cleaned up, supervised all the way! Look for the “cans” and try not to dwell on the “can’ts”!

July 2020

Lemonade from Lemons

by Barbara Lazarus

“Lemonade from Lemons”, “Live in the Moment”, “One day at time”. We’ve all heard these mantras or cliches and have tried to use them in our everyday lives. I know I did, especially as I grew older and my sons left home for college. Little did I know that their true meaning was lost on me. That is until our family received the NPC diagnosis on, not one, but both of our adult sons, our only children. But, as time went on and as the shock and despair eased just a little, I began to recalibrate to our new normal. Along with that came a new perspective on our daily lives and I began to truly understand just exactly the meaning of each of those sayings. So, “Live in the moment” also became “Seize the day!”

For example, on a sunny summer day, a few months pre diagnosis, relaxing in our pool in Connecticut with my younger son, who was experiencing what we believed were serious mental health issues, I casually asked “If you could go anywhere in the world, money is no object (I wish!) where would it be?” I fully expected to hear him say Australia or New Zealand or Japan. But no, his response was “California”. I was surprised but thought, ‘that’s more doable”. So,months later, post-diagnosis, in the spirit of seizing the day and living in the moment, when we began to explore options for treatment and the first one that we came upon was a newly opened trial in – you guessed it – California, requiring us to spend weeks at a time out there, as a family we decided to make the most of our free days and begin to create some lasting memories. We explored, enjoyed and appreciated all those new places and began to feel that, although this diagnosis can never be good, maybe there can be just a little bit of positive in there too. And so, a little glimpse of our California experience:

Previous
Next

Supporting one another. Supporting our community.

Ayik Family Journey

June 2021

Evren and Kara Ayik – Evren is a recent high school graduate who lives in Merced, California, and who has ASMD. He plans to start Fresno State University this fall to become a special education teacher. His mother Kara likes to encourage him to stretch his wings and play an active role in making the world a better place to be. They share a love of animals and nature.

December 2020

Christmas!

By Evren Ayik

Merry Christmas, Everyone!

My family and I made to it Christmas 2020. I finished my first semester in college successfully, and now I am officially on break. My final requirements included a speech on Hanukkah (Happy Hanukkah, by the way), and also a report on a virtual viewing of Dvorak’s New World Symphony. I am so relieved it is over. I have lost count of how many times I have said that.

To date, the month of December has been pretty uneventful, although it’s fun to think about gifts and enjoy decorations and surprises. I look forward to eating some of my mom’s sugar cookies soon, and I actually received my biggest Christmas present early—a TV! It was supposed to be for my dorm room, but because college dorms are still not open, I have it in my room at home (much to my mother’s displeasure—she thinks one TV in the house is enough, and that I already spend enough time on the screen as it is). I also find it amusing to see where my elves, Garnet and Tony, are hiding.

Our cat, Pearl, who apparently wanted to re-enact her latest escapade of chasing our neighbor’s affectionate and docile cat, Cuddle Cakes, up a tree, thought it might be fun to scale our Christmas tree in the middle of the night. Needless to say, that was not a very good idea, especially since she is not exactly a slim cat. She knocked it completely over, which resulted in some broken ornaments, including poor Captain Jack Sparrow, who lost an arm, and Dorrie (from Finding Nemo fame) who lost one of her fins. A few others, including my mother’s preferred chocolate covered strawberry and cherry pie ornaments, were broken beyond repair. But my mom says that the silver lining is that the ornament I made her when I was very little survived, and she has discovered that Gorilla Glue is excellent for things like gluing Captain Jack Sparrow’s arm back on.

As for my mom, she is busy finishing school too, but is almost done. Being someone who cares deeply about nature, animals, clean air and water, she is optimistic that next year holds promise for greater protections of the Earth and its living creatures, including us human beings. Along with everyone else, she is waiting in great hope for the COVID vaccine and the end of quarantines, isolation, and illness due to the virus.

My hope is that we can meet in person for the 2021 Niemann Pick Conference! And you? What are your hopes for 2021?

Here’s wishing that at least a few of your dreams come true in 2021! In the meantime, have a Merry Christmas, a joyful holiday season, and a very happy New Year’s!

 

November 2020

Livin’ Life

By Evren Ayik

October has been a long month. I guess that’s because there are really no holidays or breaks from school. This past month I have been rather busy. I continue to work hard in each of my online classes at Fresno State. Currently, my least favorite class is communications because I am not a big fan of the professor. My favorite class is a writing tutoring class. I enjoy this one-unit class quite a lot because my small writing group has a charismatic vibe, and I am able to learn new writing techniques.

Some things that I have been doing for fun include going on drives to practice driving on different roads and watching a lot of football. I have begun to make picks of the teams that I think are going to win. My favorite team is the Denver Broncos. We are not very good this year, but I am a die-hard fan, so I support them no matter what situation my team is in. Something interesting about the Broncos is one of their wide receivers, KJ Hamler, is an Uplifting Athlete. Uplifting Athletes use the power of sports to uplift people with rare diseases. *BREAKING NEWS: KJ Hamler caught the winning touchdown pass in today’s game! Yeeessss!**

Recently the Mountain West College football conference decided to play an eight-game season. My college, Fresno State, is in the Mountain West Conference, so I have had fun watching them play on TV. Fresno State didn’t get off to the best start, but they bounced back in week two. One of the starting defensive ends on the Fresno State football team went to my high school, so that is really neat to be able to know someone on the team.

I have also been involved in a college group here in my local community. We are currently building a Toy Story-themed little library for the community. The little libraries, if you haven’t seen them, are usually build like miniature houses (or barns) with little doors that open to reveal free books that people have donated. People can take books or leave them. The little libraries are attached to posts and set up around town. I also participated in the setting up and tearing down of a movie night for children. That was a ton of work, but we were rewarded with a burrito from the nearby taco shop and abundant candy for our efforts.

On Halloween, I went to Pinnacles National Park during the day and a party with my “pod” friends in the evening. It’s on my bucket list to visit every National Park in the United States, and Pinnacles was one that was decently close that I have never been to. The Halloween party was fun. I dressed up as a pirate and ate even more candy.

October was a very busy, long month, and I am looking forward to November because of Thanksgiving and Thanksgiving break. Personally, I love a roast turkey most of all. Finally, as a postscript to my mom’s last posting about Skittles, shortly after publication, he learned to love cat treats. Now he has his own little treat bowl right next to Pearl’s. Happy Thanksgiving, everyone!!

 

October 2020

Skittles’ Lesson

By Evren and Kara Ayik

Evren’s schedule is booked solid with online studies and assignments, so he is taking a break as my co-author for this month. Even though Skittles is officially Evren’s cat, this month he taught me a good lesson, and I wanted to share it.

We had only owned dogs up until a few short years back. In a moment of weakness at PetSmart, I deliberately wandered over to the adopt-a-rescue-cat window, and I saw a cat on sale. Yes, this cat was actually on clearance! I guess he had been around for a while, so the store had reduced his usual adoption fee by a third. Always one for a bargain, I took a closer look at clearance cat and saw that he was striking. His shiny, thick fur was smoke gray and snow white, his peridot eyes were large and round. He sported long, elegant whiskers and a delicately sculpted light pink nose. He had a large, shapely head and a remarkably long neck. This cat was regal! Hmmm. . . whom do I know who needs an adult cat? I asked myself. And instantly a relative (who’d recently divorced) came to mind. Long story short, I arranged a match between my relative and the cat, and we took the clearance cat to the check-out stand for adoption.

The relationship between the adopted cat, Skittles, and my relative lasted for a couple of years, but then a new marriage was announced, and my relative’s significant other declared that the house would be a cat-free zone. So, in the end, Skittles came back to live at our house with the following advisory from his former owner: “No belly rubs, and he doesn’t like cat treats.” Upon his arrival, I quickly learned that Skittles was petrified of our extra-large Golden Retriever, Valentine, nicknamed Tiney. “Skittles is just going to have to adapt,” I told the boys. At bedtime that first night, I picked up Skittles to carry him across the hall and into Evren’s room for the night. Skittles was to be Evren’s very own cat, and Evren’s bedroom would be his safe zone where no dog would threaten his peace. As I gingerly carried Skittles past Tiney, Skittles abruptly came to the mistaken conclusion that I was about to feed him to the dog. Skittles’ ears went back, his body stiffened, he showed his teeth, and then he sank his two little cat fangs deep into my arm, desperately trying save his own life by escaping my hold. It was not the most endearing of moments. But eventually Skittles settled into a sort of uneasy co-existence with Tiney. His anxious ways, rejection of cat treats, and refusal to be cuddled left an impression that he was an unfriendly sort of cat.

Fast forward a year later, I decided Evren needed to raise a kitten that he could actually hold, since Skittles did not tolerate lap-sitting, let alone holding. I learned of a kitten on her way to a rescue whom we adopted and named Pearl. Much to our surprise, Skittles immediately became her most devoted caregiver. He would play gentle kitten games with her, groom her, and he always let her eat first from their shared bowl. He was tolerant when she tried to pounce on him. Much to Skittles’ dismay, Pearl had no qualms about cuddling up with Tiney for some companionship. One evening, Pearl, who enjoyed walking around the edges of the bathtub, fell into a tub full of water. Once I had pulled Pearl out, Skittles sprang into action. He followed two steps behind her for the rest of the night, refusing to let Pearl out his sight for even a second. Seriously? Can’t you people manage to take care of a kitten? he seemed to be asking, shaking his head and questioning our competency as kitten parents.

But in fact, Skittles did have his own way of showing affection. He head-butted our arms when we sat quietly on the couch. We learned that head butts are actually a cat’s way of expressing love for his or her owner, kind of like hugs. At bedtime he slept curled up near Evren and stayed all night until Evren arose from bed each morning. And after all, no one could deny that he was endlessly patient with the mischievous Pearl. Only love could let him do all that.

Just a few days ago Skittles woke me up late in the night, meowing incessantly with his odd little meow that had no “e” sound in it until I finally couldn’t stand it anymore. I dragged myself out of bed to open the patio door and let him in. I flipped on the porch light, and what did I see before my very eyes? A dead brown and white roof rat at Skittles’ feet. He brought it right up against the sliding door track. Skittles looked at it, then looked at me proudly and magnanimously. Skittles had presented me with a gift, and he was so very proud of himself. Although I felt like a killjoy, I didn’t let him bring it in.

As I thought about Skittles the next day, a thought came to me. Skittles must have the biggest heart of any cat I have ever met in my life. We collectively had branded this cat as aloof and grumpy, but all the evidence pointed towards a cat who is exceptionally loving, just in his own way. As I pondered this epiphany, I found myself wondering, how often have I labeled other human beings in the same way I labeled Skittles? When people didn’t show the behaviors I wanted them to in the time I expected them to, did I label them in some rejecting way? I hope I can retain this lesson that Skittles may have just been sent to teach me.

September 2020

College, Spike Ball, and TORCH Awards

By Evren and Kara Ayik

The month of August was eventful for us. I began my first day of college, but first we had the drive through welcome ceremony, Covid-19 style, at Fresno State University. That was memorable. Usually there is a tradition that new Fresno State “Bulldogs” (students) run through the doghouse (an inflatable one!) on the football field to initiate themselves into Fresno State. Instead, this year new students and their families drove onto campus and navigated through a welcome route. In theory it was a great idea, but it was quite a trial even getting onto campus. After all, there’s nothing like intense summer heat, short stop light cycles, and cars coming as far as the eye can see from every direction, to bring out the cheerful and courteous driver in all of us. What a traffic jam! But we finally made it on.

Music was playing loud enough to hear it from our cars, and a variety of campus folks all dressed in red and blue stood along the sides of the street cheering and waving to welcome us. Yes, the inflatable doghouse and the campus mascot, Victor E., was there too. My grandma told us to start snapping pictures of the sign they had posted—the kind that lights up with light bulbs to form letters and words like “Don’t text and drive.” As I started to snap the picture, the lights flickered, and in our picture, the sign ended up reading “Welcome New Stud” (instead of New Students). We all got a little laugh out of that. At the end of the route they handed us our Fresno State goodie bag through the car window (and you may know by now how much my mom and I do love SWAG!) I pulled a Fresno State mask out of the bag, which was terrific because I really wanted one. We ended the night with a drive-through dinner at Boston Market, because we don’t have one where we live. I love their macaroni and cheese. I guess that was the fun part of starting college, because as soon as school started, I was faced with hours of hard work. It’s a silver lining that I am at home where my grandpa, who is a math teacher, can help me along with my required math class. Teaching math using Common Core guidelines is no joke. Now I guess I am still adjusting to a very heavy workload and making my best efforts to complete all of my assignments.

Other than that, late August had two fantastic events in store. The first was winning a spike ball set in a raffle. It takes four people to play a game, so I may not be able to use it too often, but I was thrilled to have won such a great set. I am waiting for it to arrive in the mail. And the high point of August for me was the TORCH Award ceremony, which was pre-recorded but shown on a live broadcast through YouTube on August 27th. It was such a wonderful honor to receive the award, and the video produced by Sanofi Genzyme made us cry. We were so proud! If you’d like to see it, it is recorded and available to view on YouTube. You will catch a cameo appearance in the video of our wonderful NNPDF Board President, Justin Hopkin, and his very much-loved and adorable son, Garrett.

Here’s hoping for cooler weather and successful schoolwork in the month of September!

August 2020

Top Three Highlights of Summer 2020

By Evren and Kara Ayik

1. The 2020 NNPDF Conference was terrific. Before the conference started, we received our NNPDF goodie bags in the mail, which was great. Who doesn’t love SWAG?! I had to spend some time preparing to share my family journey, but in the end I think some viewers enjoyed it, so it was worth it. I also really enjoyed hearing the other family journeys, which were moving and inspiring. My brother met some of the NNPDF siblings for the first time, which was nice to see. But most of all it was wonderful to see all the adorable children and happy family photos on camera and on the photo “walls” on the conference website. My mom and I were totally surprised that we were so sad when the conference ended. We had no idea we would have the same let down feeling as the one we feel after an in-person conference has ended. All in all, we don’t believe the online conference could have been any better.

2. Thanks to my only aunt and uncle, who rented a bright yellow ten-person raft, I enjoyed a one-day rafting trip on the American River in Sacramento, California. The river this time of year is actually pretty calm, so I would have to say my trip was more of a lazy float with a few rapid-ettes. The day was nice, and then we saw ducks in the river and a mule deer grazing along the banks. It was refreshing to be in so much water since my hometown of Merced is quite dry, hot, and flat. We blasted other rafters with water guns, and they blasted us back. (Future raft renters: BYOWG- Bring Your Own Water Guns.) I removed some trash from the water to help the environment so as to leave no trace. Everything was pretty cool except for the moment when I unwrapped my pre-packed Subway sandwich, at which point I was horrified to discover it had mayonnaise on it. I don’t do mayonnaise, so I went hungry. When we returned to aunt and uncle’s home in Folsom, we ate ribs, corn-on-the-cob, and potatoes. Luckily there was no potato salad, as my uncle also does not do mayonnaise under any circumstance. Overall, a great day.

3. Thursday, July 24th was another great day. My neighbors surprised me with a very generous paycheck for housesitting. It was actually fun to take care of their cats, Thor and Odin (cleverly named by their Nordic-American human parents). Thor and Odin are just cool cats. That’s about all I can say about that. That same afternoon, a good friend from my youth group and I ate some great chicken strips from Five Star Burgers while socially-distancing at the outdoor picnic benches. Later in the evening, Odin and Thor’s human siblings, twin boys, came outside to play Frisbee in our cul-de-sac, which was a lot of fun. But the day still had one more surprise in store. As I drove with my brother to deposit my house-sitting money at the automatic teller, I had the great fortune of running into the owner of my dream car, the VW van! (I posted a picture of me in the outfitted orange bus on the NNPDF conference photo wall.) The owner of the van, a really nice guy who had bought it and converted it into a camper van so he could travel the West Coast, was leaving for San Diego that very night. Fortunately, he remembered me from our first meeting, and he let me take a few photos in the van, and then he took me for a spin around the parking lot.

So memory three, as you might have noticed, was nothing spectacular compared to a typical American family vacation memory. But that’s what 2020 has been all about—learning to fully embrace the joys and victories of our daily lives and to treasure them instead of labeling them as second rate or not quite what we had hoped for.

July 2020

Adopt-a-Senior Boxes

By Evren and Kara Ayik

Being a senior in high school in 2020 was different and disappointing because of Covid-19, but there were some special things that happened just for us. Across the country, people were doing random acts of kindness for seniors. One of the most popular events was the senior box adoption, which my family and I really enjoyed. The Facebook campaign was called “Adopt a Senior.” Someone from the community would choose a high school grad to create a gift basket for that contained mostly treats such as chips and candy, but also cards, gift cards, and other small surprises. Because I am the type of person who loves these kinds of treats and surprises, I was very pleased to be officially adopted twice. The first adoption was from a family friend who knew us for years, and she created a grad-themed basket, which was actually a plastic tub, with festive graduation decorations, Pringles, candy, mini-soda cans, and a gift card for one of my favorite places to eat, Five Guys.

The other adoption was also very special. In my junior year, I was interviewed by the local American Legion Post 83 as a candidate for Boy’s State, which is a week-long government and civics program for high school students from around the state that takes places in Sacramento, the state capital. I was ultimately chosen to go as the representative from my high school, and the week-long camp is one of my favorite memories of all times. Anyway – the Post heard about the campaign and decided to sponsor some of their Boys’ and Girls’ State representatives. So, they called my mom to find out what kinds of treats I liked. She told them about my favorite candy, Sour Patch and Hershey’s chocolate, and also about my love for certain Hostess products, Pringles, and my personal interest in meaningful keepsake items. (And yes, my mother absolutely hates it that I like Sour-Patch candy, which are terrible for my teeth. I have to hide it from her.) The day before graduation, two uniformed members of Post 83 came to my door with an American-flag themed shopping bag filled with tons of goodies that included a beautiful American Legion commemorative coin, a pen, and other memorabilia, and gift cards for Starbucks and Amazon. I was impressed that they managed to find an American-flag themed can of Pringles and also a beach ball, which is floating around the house somewhere at the moment. The bag’s handle even had a little graduation tassel key chain attached. It was a complete surprise! Receiving the wonderful bag created a terrific memory for me.

My family also adopted three graduating seniors with my grandparents choosing one of my closest friends, and my mother choosing two boys who had especially kind personalities. It was a lot of fun to put the baskets together with treats and little gifts such as a small set of tools for one boy, and a gift card for the other. One item in each basket was a bottle of pink sparkling apple juice, AKA “champagne.” We included a graduation card and a little painted rock with each boy’s name in their baskets.

While graduation was certainly not what I had expected this year, I am thankful for the surprises and the memories that the Adopt-a-Senior box event created in my timeline. I might also add that it was as much fun to make the baskets as it was to receive them. I hope our baskets made our adopted seniors feel as special as mine did for me.

Supporting one another. Supporting our community.

Message from the Executive Director

June 2021

Dear Friends and Families

October Awareness was a flurry of activity. We had video posts, a day of giving, the new INPDA Newsletter, International Niemann-Pick Awareness Day, daily Quick Fact posts, awareness-oriented social media profile pictures frames, and more, throughout the month.

This month we launched our new Pyramid of Support campaign geared towards showing community pride in supporting NNPDF. Support comes in all forms—through volunteerism, through sharing NNPDF news with those within the NPD community and outside in the general community, through raising awareness of NNPDF through fundraisers, and through donations. Support comes from helping one another. I love the metaphor of “Support” for NNPDF and support for one another, and also the symbolism of the pyramid holding each other up and physically supporting one another.

Our ability to raise awareness of NNPDF and Niemann-Pick disease doesn’t end after October. Over the coming months you will see a series of photos and videos made by community members displaying their Pyramid of Support. Please join us—make a pyramid with your friends, family, co-workers, kids’ sport teams or classes, or with anyone you choose, and tag it with #pyramidofsupportnnpdf and share on social media. Help us keep raising the level of Niemann-Pick awareness.

One way that we do this as a national patient organization is through our role in advocacy at the national level. This month, NNPDF collected family impact statements from families throughout the US who wanted to share personal observations of the impact of adrabetadex, an experimental therapy, on their loved ones with the US Food & Drug Administration (FDA). We advocate for the community by participating in important community forums like the Patient-Focused Drug Development meeting held in March which highlighted patients’ and families’ general experiences with Niemann-Pick Type C without focusing on any specific experimental therapies. We also advocate for the community by reaching out directly to the FDA as a conduit for the Niemann-Pick voice. The family impact statements sent to the FDA this month were a response by NNPDF to many NPC community members’ desire to have their voice heard in the regulatory process and to advocate positively for their loved ones about their observations from this specific experimental therapy. We are pleased to share that this information was received by the FDA and to convey their sincere thanks to the patients and families for putting the document together.

As your national patient organization, we will continue to advocate with you and on your behalf for access to all treatment options, to help remove any barriers to these treatment options in the future, to elevate the voice of Niemann-Pick families, and to continue to raise awareness of this devastating disease. Raising awareness of Niemann-Pick disease doesn’t stop after October. Please join us in our ongoing efforts to make our voices heard.

Warmly,

 

 

Joslyn Crowe, MSW, MA
NNPDF Executive Director

Supporting one another. Supporting our community.

Taking care of you in challenging times

June 2021

Managing self care forum

Dear Friends,

Are you searching for manageable ways to take some time to care for yourself especially during moments of stress and uncertainty?

Please join NNPDF and NTSAD as we jointly present the upcoming forum Taking Care of You: Self-Care in Challenging Times led by Shoshanna Hecht, LCSW, on Wednesday, April 1, 2020 at 2:00 pm EST/11:00 am PST via Zoom Webinar.

This community forum will include practical tips on manageable, every day self-care, a guided meditation, and time for Q&A.

Shoshanna Hecht is an Executive and Personal Coach based in New York City, with previous experience of over 10 years as a clinical therapist on the west coast. Shoshanna also leads guided meditations to boost confidence while reducing stress, self-doubt, and overwhelm. They can be found both on her website and on the Meditation Studio App named one of Apple’s 10 Best Apps of the Year.

Supporting one another. Supporting our community.