It takes a village
First, thanks for all the support since we received Joshua's new genetic diagnosis! It's such a blessing to know that people care, so thanks to all of you who have reached out. As we've started to read more about 4Q deletion syndrome, one theme that comes up over and over is how much of a difference early intervention makes. It's made me feel a wave of gratitude for the "village" of people who have helped us care for Joshua these first four years. Thank you to the doctors and nurses who gave him so much crucial medical care. Thank you to the therapists and teachers who have taught him so many important skills (and taught us how to help him). Thank you to extended family, church families, and friends for surrounding him (and us) with love. I'm very grateful to all of you!
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Joshua medical stuff
Josh got an echocardiogram and blood work done earlier this month, and all the tests came back normal, which is great! His transition off the feeding tube is also going very well. His favorite foods are peanut butter, cheese, yogurt, and fruit. He's gained a few pounds since he stopped using the tube this summer and he seems to be healthier than he's ever been (which might just be a coincidence, but in any case, it can't be a bad sign). He still has the G-button in place for now and the plan is to remove it in March, once we make it through cold & flu season. I'm glad the doctors have decided to take it slow with removal, because it's given us time to really feel confident that he can continue to gain weight and stay healthy without it.
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The start of our 4Q journey
We have been researching 4Q deletion syndrome, but there is not a lot of information out there, so our best source of information right now is the 4Q parents group on Facebook. There is also an organization called Unique that registers the families of children with rare chromosome conditions, and then uses this registry to connect families with others whose children have the same condition. We have registered with Unique and made contact with a few other families whose children have similar deletions. Interestingly, Joshua is the only (*registered*) person in the world with his exact deletion. Unique operates out of the UK and it looks like most families who are registered live in the eastern United States or western Europe, so it seems very possible that as more and more people get genetic tests and as more geneticists worldwide learn about Unique and encourage their patients to register, we will eventually learn of at least a couple people who are an exact match with Joshua. But for now, he is literally our precious snowflake. (This is my attempt to reclaim that phrase and use it for something positive rather than mockery.)
One of the 4Q brochures said that knowing an individual's chromosome make-up is helpful in explaining symptoms in an affected child, but not so helpful in predicting the effects on an individual. This has been true for us - we've definitely had lots of "aha" moments in the last month, as several things make more sense with this diagnosis, but so far it hasn't been super helpful in showing us exactly what Joshua's future will look like. We know that certain kinds of problems are much more prevalent in the 4Q population, so we will be periodically testing / watching like a hawk for those. And it seems like with almost every kind of problem, the earlier you catch it and start treating it, the better. So hopefully the diagnosis will be helpful to us in that way going forward.
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Joshua School Change
We moved to a new house in October, and since Joshua attends preschool through the public school system, he had to change schools in November. I was pretty resistant to this change because we were SO happy with his last school - his teacher was great, we could see him making progress all the time, and he had a good friend in his class. Fortunately, the transition to the new school seems to be going well. His new teacher is very nice and we are continuing to see him make progress. But mid-year transitions are always hard, so I would appreciate continued prayers for J to adjust to this new school and to make new friends.
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Zoey Updates
Zoey doesn't get much word space on this blog because, fortunately, her health and development have been pretty typical, but today I'm giving her a virtual appearance. Zoey has a very lively, mostly happy but always intense personality. She is talking up a storm and is full of questions. One of her favorites is, "Where did mommy go, mommy?" She and Joshua are great buddies and playmates for each other. Zoey's hair is finally starting to grow longer, so if anyone wants to send tips on [SIMPLE] ways to style toddler girl hair, I would appreciate it! Right now I can get away with the Justin Bieber look (is that an outdated reference?), but we're going to need a better hair solution soon.
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Family holiday plans
We will be staying in Virginia Beach through Christmas Eve, and then we will travel to Nebraska from December 25 - January 6. This is the first time we've spent most of December in Virginia rather than traveling back to Nebraska or Reno early, so it's nice to participate in some of the holiday festivities in our town of residence. We are very excited to see you, Nebraskans, and we will be thinking of you on Christmas, Nevadans!
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