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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.
Do you remember being told when Connor was diagnosed or learning about the diagnosis?
How does Niemann-Pick affect your daily life, for you personally versus your family as a unit?
What advice would you give to other young people in your situation when they first learn of their sibling’s diagnosis?
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. 
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. 
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. 
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. 
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.
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 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.
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. 
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.
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. 
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. 
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 
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).
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!
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.
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!)
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.
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.
Merry Christmas, Everyone!
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.
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!**
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.
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.
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.
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.
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.
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.
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.
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.
