We’ve had a couple eventful weeks since we’ve been home from the beach. Fisher had some great therapies and huge improvements! She’s able to hold her head up A LOT longer then before and she’s doing great with propped sitting!
Fisher also had a lot of FIRSTS over the past couple of weeks. She went to the Zoo for the first time.
She also went to the Little Red River over Memorial Day Weekend! She loved fishing 😍
She even said… wait for it… MAMA! So long story short: mom, Fish, and I rode down to the river together… girls in one car, boys in the other. We stopped at the Bull Dog to get dinner before making it to the river house and while we’re waiting in line, Fisher started making noises. So I started recording her… well, mom started talking and so I stopped recording and told her I was going to video her and to wait a minute before talking… I know I know, I should have just kept my mouth shut and kept recording bc as soooooon as I stopped and said this to mom, Fisher goes “MAMA”.
If you could have been a fly on the wall in our car to see our faces, we both we’re freaking out. I immediately hit record and caught a little ma…… ma…. mmmm… not as good as the initial MAMA.. but I’ll take it!
I haven’t been able to get her to say it for me, but I know now she can! It’s in there and she definitely wants to talk sometimes but can only push that mm mm mm sound out. It’ll come all in good time!
This past weekend, on June 1st, we celebrated the baptism of our sweet Fisher Rae, as well as, our amazing Wells Michael’s 4th birthday party!
After both events Saturday we went home to rest for a little bit, but not for long, because Bobby had a show that night! (When we plan a day, we plan a day!)
And now we come to this week.. Monday, June 3rd came and went, way faster than I would have liked. Wells Michael turned 4 and it was such a good day to celebrate him!
We also had a genetics appointment for Fisher that afternoon. We saw Dr. Hamid and talked about different things with Fish.
First thing was we talked about her sleep apnea and that we were going to see ENT on the 4th. Then we also addressed the COL6A3 deletion.
One of my friends had mentioned that one of the collagen 6 genes was located at 2q37.3 and therefore I became curious as to what this could mean for Fisher. I reached out to her genetics councilor and this is what they informed me…
Her deletion does include the COL6A3 deletion. It is possible that she could have symptoms from this deletion, but not definite. They would want to keep an eye on it while she’s in clinic. She explained that the most severe deleting occurs when both copies of this gene are not working. The next most concerning changes are those in which one gene produced normal protein and the “misspelled” gene produces an abnormal protein. The interaction of normal and abnormal protein causes more problems, than a decreased amount of normal protein, which is Fisher’s situation. It is possible that whether or not an individual with deletion of one COL6A3 gene has symptoms depends on the amount of protein produced by the normal COL6A3 gene. Perhaps individuals whose normal gene produces a lot of protein do not have symptoms or have milder symptoms.
They are unsure of what is to come and what’s symptoms she will have, if any at all. So we shall wait and see…
We also talked about the possibility of Fisher having scoliosis. Dr. Hamid wants Fisher to see one of the pediatric orthopedic doctors at Vanderbilt for the scoliosis evaluation. We’re waiting on that call for an appointment.
Lastly, today, June 4th we went and saw Dr. Virgin, ENT. We discussed Fisher’s sleep apnea and he decided he wanted to get a sleep study done on her to figure out the severity of it. Once they do the study, they will know if she needs just her adenoids removed or more issues needed to be addressed. If they can’t get us in for a while (usually a couple months out) and it’s getting worse, we can call and he will change the plan. The second plan is to do a scope (not sure the fancy name) but look at her adenoids, tonsils, larynx, etc, and see when she is asleep breathing how floppy everything is and then take out what they need.
One issue we need to figure out is her hearing loss. She’s continued to fail all of her hearing screenings, so they aren’t sure if she actually has a hearing loss or just needs tubes 🤷🏻♀️ so we will wait for the sleep study and if it takes too long we will go with plan b.
Please continue to pray for our sweet girl. She’s such a bright, beautiful, and happy girl. We’re so blessed to have her and can’t wait to see what the future holds for us.