McGlocklin Family Journey

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!