UBE2A Deficiency Syndrome wasn't discovered until 2006, so when our geneticists found that this gene was the root cause of all of our son's numerous medical conditions, we were shocked when they told us that Abram's was the first case they have had and that they would officially be learning from Abram. I immediately joined Unique - Rare Chromo's website - which is a support network for parents who have the worlds most rare diagnoses. I filled out all the information about Abram's diagnosis and suddenly, I was connected with one other family in the UK that also had a son with UBE2A Deficiency Syndrome! I also made sure that this website was coded appropriately so that anyone searching for UBE2A Gene Variations could find us and before I knew it, the person who wrote the first case study found us and within another year - another family had found us!
Learning that your child has something so rare, comes with a great deal of shock, anger and fear. For me, the shock wore off quickly as I had fought for over two years to get a proper diagnosis! I felt angry because not only does your child have a rare diagnosis but due to it's rarity the community support simply is not there. That is not to say that we don't have an excellent support system and a massive group of people who truly love and care for our son - but that unlike many other families with special needs children - we don't have that community of kids with similar diagnoses to try to relate to - and that in and of itself is very isolating.
Rare Chromosome Awareness week is so important for us and for Abram because it gives us an opportunity to raise awareness for UBE2A Deficiency Syndrome. Many negative things can come out of social media but it most definitely can help families in situations when families like mine. Without the internet, we would not be able to connect with the families around the globe who have the same diagnosis. So far, less than 40 cases have been reported and we (as a group of parents) have collectively only been able to find and connect with six other families (not counting ourselves) and we are hundreds and thousands of miles away from one another - either on the other side of the country or the other side of the world from one another.
It is so important to make connections with ALL people who make an impression in your life but there's something even more special about connecting with people whose children have what your child has and who can give you a glimpse into the future and show you exactly what hope looks like and to also grieve and feel broken hearted for the mamas who fought their children's whole lives being alone and not having the connections I am so very lucky to have with them, now. To that mama, thank you for being brave and sharing your story and your son's sweet smile with us. You have added three more families to the list of people forever connected to our lives and I couldn't be more thankful for what you have done or for your sweet boy.
If you or your child has a rare condition and you have not yet signed up for rarechromo's Unique Database, I urge you to do so. Before we had our "official" diagnosis, I was able to put in all my son's symptoms an other diagnoses and could still connect with families with similar medical conditions regardless of having an official name or answer to the bigger picture. It was nice being connected to other parents who had children with the same situation and symptoms, so you are not alone.
UBE2A has affected Abram in many ways and although it was a difficult journey to diagnosis and his medical history thus far has been a rocky road - I feel that we are finally coming into better days. He is learning to communicate (via an ipad and PECS), he is able to say "mama" again now (since March! I didn't want to say anything because I didn't want to jinx myself!), he is getting fast at running and has even conquered a rather large playground slide, just tonight.
Rare Diagnoses can be isolating, overwhelming and scary but the wonderful people and the love that comes your way when you join the rare diagnosis/special needs world is incredible. You end up meeting the rarest kids in the world, the coolest parents and people you will ever meet and children who are the sweetest, most loving, forgiving and kind-hearted spirits in the world.
Much love, friends. Spread the word!