McGlocklin Family Journey
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.
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!
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!
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!
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!