Constantly lingering in the back of my mind, though, is the pending arrival of Will's genetic testing results. When he was born in early May, doctors quickly switched their diagnosis from Osteogenesis Imperfecta to something even more rare called Jeune Syndrome. If you google it like we did shortly after his birth, it won't leave you feeling very optimistic. BUT, the good news for sweet Will is that he is doing incredibly well. If he does indeed have Jeune Syndrome, he most likely has a very mild type. The big question is still unanswered though... What condition has caused Will's bell shaped chest and mild bowing in his femurs?
After doctors made the potential Jeune diagnosis, we had a tough decision to make on the type of genetic testing we wanted to pursue to get definitive results. Because Jeune's is so rare and some of the types don't have standardized genetic testing, we decided to go the route of whole genome sequencing. Basically, this type of testing will evaluate his complete DNA profile and it will help us more accurately identify what condition he may have. Most importantly, it will help us prepare for any future care he may need, and I pray it will provide us with some comfort in no longer dealing with the unknown. It seems like we've been living in the unknown for almost a year now, so I can't help but feel optimistic that maybe this testing will give us some closure. The results should be back sometime this month. I'm so apprehensive about receiving them and I find myself thinking more and more about his prognosis.
A new thought entered my head on Sunday morning as we got ready for church. It hit me like a ton of bricks and it was a thought I was shocked I had not had before. What if these genetic results come back and don't really reveal anything? I know a couple of other moms that have been down the road of testing for Jeune's and they don't really have anything definitive to hang their hat on... What if we are the same way? How am I going to feel if we have to live in the unknown forever? Will this jeopardize Will's care at all?
The way the thought entered my head on Sunday seemed so strong and so clear. I almost feel like God is trying to prepare me for genetic results that don't tell us anything. I don't know how I feel about all this yet, but I'm trying to get ready for whatever is coming in the next few weeks.
The biggest thing I'm trying to remember in the meantime, though, is that Will is doing exceptionally well. He weighs over thirteen pounds now and is easily fitting into six month sleepers (he's only 3 months old!). I'm so happy with how he's doing and it's super easy to fall into a place of complacency. I just worry that maybe we're overlooking something or getting a little too comfortable. AAAARRRG, this journey is so hard. The unknown is hard but maybe knowing is even harder?? We'll see. Just continue to pray for Will and that he continues doing so well.
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I would also love to ask for your support, prayers, well wishes and whatever happy vibes you have to send my way. I'm working on a HUGE project I hope to reveal very soon. It's all about my mission to give back and I'm pouring my heart and mind into it! It is taking a lot more time than I anticipated, but I pray it can launch soon!
Thanks for continuing to check in on us!! I'll be back later this week with a few updates on my house projects!! :)