hear me rare

So I know that this coronavirus pandemic has everyone on edge these days. However, I am here to share some GOOD NEWS to hopefully brighten your day a bit!!

Since mid-March, all of Blaise’s PT and OT has been cancelled as a result of COVID-19. I was a bit upset because he had been making such great progress, but understood why these precautions were being taken for the safety of all.

Apparently, Blaise thought that Mom and Dad’s School of Hard Knocks was a fine alternative to PT/OT. Blaise has been making some great strides these past few weeks! In January when all of this started, Blaise was not eating any solid foods at all, he refused everything I tried to give him. In late January he started eating thicker purees and has been doing an awesome job! However, a week and a half ago, he started eating small bites of food, versus only purees. Here he is eating some PB&J for lunch. He can even pick up small bites of food using a pincer grasp and feed himself! What progress!

Blaise also didn’t drink anything except formula nor did he drink from anything other than a bottle until 1.5 weeks ago. He finally will drink water with no problem, and can drink it from a sippy cup! We are still working on getting him to hold the sippy cup himself, but he will get there soon enough!

And last but not least….drumroll please……. Look what this joker can do on his own!!

As I have mentioned before, Blaise has hypotonia, or low muscle tone, as a result of his disease. What this translates to- Blaise has difficulty coordinating movement, like sitting independently, crawling, etc. Blaise has been doing so much work to improve his core strength, and finally he got up on his hands and knees ALL BY HIMSELF (and held it for ~10-15 seconds!). This is a HUGE step! He also has been pushing off of his arms in this position and moving himself backwards. So hopefully, he will be able to move it forwards soon!

I would be lying if I said that all of the work we have been doing with Blaise was easy all of the time. Some days he doesn’t want to do the work and cries, or gets frustrated with the repetitive movements. Some days, his big brother just has to be in the middle of everything (two year olds…am I right?). And when we are the ones seeing him everyday, sometimes it is hard to see any progress at all, despite family and friends encouraging us that they see improvement. But I will say, when we get to see Blaise hit these milestones and how proud of himself he is when he does something new, it is worth every moment.

Blaise and I went to a Rare Disease Conference in San Diego at the end of February. I feel very fortunate that we received a tentative diagnosis in time that we could sign up and attend (all of those prayers are at work!!!). As you can imagine, traveling solo with your 1 year old infant in arms for a 5 hour flight that takes off an hour before bedtime sounds like a nightmare. Luckily, sweet baby Blaise slept like a champion for the entire flight once we got up in the air!

This conference was hosted by Sanford Burnham Prebys Medical Discovery Institute which is a non-profit medical research institute, and a lot of research in glycobiology (basically “sugar science”) is completed there. Dr. Hudson Freeze is THE name in CDG research, and when we walked up the morning of the first day, he happened to be outside and greeted us warmly as if we had known each other for years. What a positive note to start the conference on!

The conference was a three day event, the first two days more scientific in nature and the third day all of the presentations were geared toward families of children with CDG. I can honestly say while I was at this conference, I felt many different emotions.

I felt empowered. I learned about a large community of scientists and doctors who are dedicated to finding treatments and cures for CDG. I honestly couldn’t believe there was such a large network of extremely intelligent individuals who dedicated their careers to improving the lives of those with this disease. I learned about progress that has been made for certain subtypes, some with cures. I learned that there are treatments in the works that might be an option for Blaise someday.

I felt hopeful. I met other families whose children have this disease. They reassured me, taught me about things that I can do to help the research effort, about things I can do to ensure Blaise gets the care he needs. I saw these families, both with typically developing and children with CDG acting like… well…families. Siblings were being siblings, fighting, then loving on each other. It didn’t matter if they had a diagnosis or not- kids were being kids. Now don’t get me wrong, there were a lot more wheelchairs, walkers, and other assistance devices than you would see on your everyday playground, but these kids did not let their diagnosis stop them from anything. That was amazing to experience. I am so grateful that I can be a part of this community now. I know these are friendships that will last a lifetime, and that I will learn so much from them. I think the best part about this community is that there are no explanations necessary among this group. Everyone understands each other and treats each other like family.

I felt a tiny bit sad. I don’t want to sugar coat things, because I am generally a tell it like it is person. Despite all of the information that I learned and all of the amazing families that I met, I still feel a little uneasy about what Blaise’s future holds. I do not know how he will develop. If or when he will walk, or talk, or –insert anything else you would normally dream of for your child. I don’t know if one of these treatments will end up working.

But I am choosing to let this tiny bit remain miniscule- because there are so many positive and optimistic things to focus on in this situation. I do not have to advocate to get researchers to pay attention. People already are and have made great strides for CDG already. I have become part of a new family, that I am eternally grateful for. And most importantly, I still have a sweet, smiling boy- who melts the hearts of those he meets, especially with his current snaggletooth situation and most recently- his glasses.

Overall I have to say the conference was a huge success. We learned so much, met such an amazing community, and even enjoyed some San Diego weather outside of the sessions. This conference is going to be a must do every year, because such relevant information and the latest happenings in research is shared there. Every other year this conference is in the United States, and on the opposite years, it is an international conference. Next year it is scheduled to be in Lisbon, Portugal, and we certainly hope to make a little vacation out of it!