Dr appt news

We saw the pediatric dermatologist today and she said that most likely Selah Grace does have conradi-hunermann syndrome.



That was really hard to hear. And type.



We had lots of questions, but the dermatologist couldn't really answer them. The rash at Selah's birth a symptom of a bigger issue and the dermatologist used the rash to diagnose the real problem. She also said she can count on one hand the number of times she's seen a chs patient. It's a rare syndrome. Most of the time it's hereditary, but not in our case. Somehow one of her x-chromosomes mutated. From now on, it will be hereditary for Selah Grace, meaning this will affect her children.



I think Brian took it hardest at first. We took some time in the room to gather ourselves together. We prayed over Selah Grace, and cried, and prayed some more.



We had promised to take Zac to Target to spend his birthday money. He had decided on a Leapster and was SOOOOO excited. We tried to focus on that (and the search around several Targets to find the blue/green one). I did burst into tears at one point because we could only find the pink ones. But other than that, we did a pretty good job staying positive. And we DID eventually find the right color Leapster. He also got a Star Wars reading game to go with it and he just loves it.



He had such a fun birthday this year. My parents got him a Clone Trooper helmet and Brian's parents took him to Build a Bear. Mimi and Daddymac (my dad's parents) sent a savings bond. They do this every birthday (and we are so thankful!), but I guess this is the first time he's seen it. He's been bragging about his "money for COLLEGE!" ever since. Too funny! He also got a board game, a new Tech hat, and the Star Wars cookbook from Pottery Barn Kids. (he loves to help me in the kitchen, and he's already flipped through the whole book twice at PBK) He also says, "I got a new sister for my birthday!" which makes us just want to smother him in hugs. Such a sweet little guy.





Anyways, once we were alone with Selah Grace tonight, we finally had a chance to come to terms with the whole chs thing. And we called our parents to tell them, which was really hard.



But we're okay. We have each other, and if you have to go through something really hard - wouldn't you rather at least be with your best friend?



And Selah Grace is just the sweetest little thing you've ever seen (I'm watching her right now cuddle on Daddy's chest). Sometimes that's the hardest part... that we might have to watch our sweet little baby struggle through some challenges. But maybe God has been preparing us, as we work with Zac and his challenges. Regardless, we *will* praise Him in this "storm" and are very very extremely thankful for the blessings of each of our children.







Most of the frustration is the unknown right now. Will she have a mild case? Will it be severe? We know that we will be passed along to several specialists. But there is no one specialist on conradi-hunermann syndrome. Again, it's pretty rare from what we understand. We haven't even found a support group or anything yet, minus a blip on an online message board here and there.

Now, we get sent on from here. Her eyes and her bones are the biggest concerns.

First, we'll see Selah Grace's pediatrician. He'll be a good point of contact, since he's been in Dallas forever and knows a lot of the other doctors. We see him tomorrow. He'll be the one to refer us from here on out, and will also be the one consistent dr throughout her childhood.



Then, we'll see an eye doctor who will determine the severity of any eye problems. The first concern is cataracts, which can be fixed with surgery. Then we'll also look for things like glaucoma, and there are some other more rare conditions. The dermatologist has recommended two practices, and we'll also get recs from the pediatrician tomorrow.



Then, a geneticist, who will be narrowing down the specifics of Selah Grace's particular case. The geneticist will hopefully be able to give us better information on how she will be affected, although no one can predict it really. I'm sure Brian and I will be put through the ringer as well, but mostly me since it's an x-chromosome syndrome.



And we also will see a bone doctor. We are SO lucky to live near Scottish Rite, which happens to have some of the best pediatric bone doctors. Right now, Selah's x-rays show no abnormalities, but there is a small indication of scoliosis - although they can't tell for sure just yet. The other concern is abnormal growth of her upper thigh bone and upper arm bone - but she has no sign of that. There's a good chance that one side will grow faster/slower than the other. But we were told that Scottish Rite does do bone-lengthening surgeries. It will take time to know how severely Selah Grace will be affected by any abnormal bone growth. It could be anywhere from a slight limp to her needing some sort of walking device to assist her.



We don't know the other areas (if any) where Selah Grace will be affected by this. That is part of the unknown.


So, that's that! We are in a great place right now. We are just loving on her and snuggling with her. We are not going to make her first few weeks of life a memory of disappointment or frustration. We took our time today to be sad, and now we are going to move on from that!

It doesn't matter about the unknown details. Pretty much every question we have is answered with "I don't know." And some answers we hope to have could literally be years away from being answered. We have googled WAY too much and there is too much of a wide range of stories to even GUESS where Selah Grace will fall.

No more googling for us. We'll take it as it comes. :)

We do know that she is sooooooo loved and we are sooooooo blessed to have been chosen to be the parents of this sweet little blessing!! And we would definitely encourage any and all to keep Selah Grace in your prayers. He has given us peace right now. Above all this, we know that our God can and does work miracles. He has counted every hair on her head, and knows each day of her life. He also catches each of our tears.

Thanks again for praying for our baby girl!!