I can't believe it has been almost 2 months since Rare Disease Day, and I really can't believe how much has changed in just that short amount of time. About a month ago, I was checking my weekly notifications from PubMed. I have alerts set up for keywords relating to Curren's disorder, and on this particular day, something very exciting that never had happened before happened. There was an alert for a medical publication using the keyword "HIVEP2". My heart actually stopped beating for a few seconds as read the name of the paper, "Mutations in HIVEP2 are associated with developmental delay,
intellectual disability, and dysmorphic features". Were there other children that had been found? Is there active research going on? I quickly scanned the document and found three incredible and somewhat unbelievable things:
Our advocacy journey has catapulted from next to nothing, to phenomenal (given the context). I was able to contact and discuss Curren's case with Dr Wendy Chung, the senior author from Columbia. We were also accepted into a study called the Simons VIP (Variation in Individuals Project), that aims to collect natural history information for families with specific genetic changes that have a known association to neurodevelopmental disorders, like seizures, developmental delay, and/or features of autism. We are hoping to get enough families enrolled in the study to begin lab studies specific to how HIVEP2 works. Curren has also just been accepted into another study through the University of Groningen in the Netherlands. The project is working to gather information from parents to better understand chromosome 6 abnormalities, including gene mutations. We also found out that a 10th child was diagnosed with HIVEP2 dysfunction last week (this is outside of the 9 published children).
We have also had some incredible support from the local community. The Cove Merchant's Association is hosting the annual Port Canaveral Mac Attack fishing tournament on Saturday June 18th, and they have decided to donate tournament proceeds to Ability Plus in Melbourne to sponsor an intensive therapy program for Curren and to help other children in need. Also, Curren has created some bright and beautiful artwork, and my wonderful friend Amy has designed special Jamberry nail wraps from his work! Our friend Ryann also has a beautiful and fun bubble design. These two special edition Jamberry nail wrap collections are bold and perfect for summer, and proceeds benefit HIVEP2 support.
We also recently attended a wonderful event, hosted by Ability Plus and No Limits Academy - the Everyone Can Dance Ball. The resources that these organizations provide to the community are incredible, and we are so blessed to be part of their village. All of Curren's therapists danced with him and everyone had a blast. Here are some of my favorite pictures, wasn't he so dapper?
I had no idea that we would come so far in such a short period of time, and it's hard to imagine what the next few months may have in store. I am so grateful to everyone that is rooting for Curren and keeping us in your thoughts and prayers!
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I am a mother, architect, wife, and a lover (not a fighter) - with a thirst for knowledge. My journey been recently refocused, as my family navigates through the world of medical and developmental uncertainty in hopes of providing every opportunity for my son to be his personal best in life.