We wanted to share an update for those who don't keep up with our journey on social media (and if you don't follow us on instagram, you should)! @confessionsofararediseasemama Earlier last year, Roman was hospitalized for two months in the PICU after suffering acute respiratory failure from two viruses. It was definitely the scariest and most stressful situation our family has had to endure, but after being intubated twice during that time for a total of 15 days and some incredible medical care, we are happy to report that Roman was able to make a full recovery and is doing well at home. It was nothing short of a miracle and we are BEYOND thankful to everyone who offered prayers and support to us during that time. Roman is turning SIX next month and Stella is now FOUR. This is a HUGE milestone and a true testament to all the love, prayers, and support they have surrounding them. Both kid's continue to get their bi-weekly infusions (enzyme replacement therapy) at the hospital. It is always a long day, but this drug has been a total game changer for all of us. It has essentially reversed damage done from the neck down and recently became the FIRST FDA approved treatment for the non neurological symptoms of ASMD, which is absolutely amazing! The only downfall to this drug (and why we continue to fundraise) is because this drug does not cross the blood brain barrier to stop the neurological disease progression. In April of last year, both kid's began an investigational medication (daily oral pill, or in their case, given through their gtubes) that has been shown (in mice) to slow down or potentially even stop the neurological disease progression that occurs with ASMD. It was a long and daunting process to get access to this medication, but with the help of Wylder Nation Foundation along with our medical team and a lot of advocating on our behalf, we finally got them started on it. They have been on it for over a year now and while we haven't seen any incredibly obvious changes, we have seen some improvements in Roman's head control as well as eye contact which is super exciting. We also haven't seen any further regression from them since beginning this medication which is a huge win in our book. Currently there are a total of 4 kids world wide diagnosed with ASMD who are taking this drug (two of which are ours). Even if this drug does start to slow down the neurologic disease progression, we know it is not a permanent fix. If anything, these two treatments are buying us more time to try and find a cure. Wylder Nation Foundation is at the cutting edge of research and development for treatments for the neurologic manifestations of this disease and with the recent increase in funding from generous supporters such as yourselves, they have been able to run simultaneous studies rather than one at a time, which is so beneficial for a fast moving disease like this. In the meantime, we are continuing to make as many memories as possible with our kids and give them as many fun experiences as we can. Earlier this year, we went on Stella's Make-A-Wish trip to Disney World which was an unforgettable experience. It truly was the most magical week! Roman will be turning SIX a month and we are celebrating this HUGE milestone with a birthday party at the Cincinnati Zoo with family and friends! We are also planning a weekend trip to Chicago in September to do a meet up with some other ASMD families, which we are really looking forward to. I continue to share our journey on social media as well as my podcast Confessions of a Rare Disease Mama where I have been able to connect with so many other incredible and inspiring rare disease parents. I'm also working on another special project that I hope I can share with you all in the very near future so stay tuned! As always, THANK YOU from the bottom of our hearts for your continued love and support. It means so much more than we could ever say.
With gratitude,
Jillian and Donald Arnold
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