Selah's doctor appt

Finally finding the time and the thoughts to blog about it...





First off - we LOVED the doctor! She was wonderful. So patient and kind and spent over an hour answering all of our questions without even doing so much as looking at her watch. She was gentle with Selah Grace and very knowledgeable. She would give scientific terms, but then explain it in regular words. She even did drawings for us to explain some things, and got a model of a cell to explain others. She had already reviewed our paperwork, other doctor's notes, etc. So she wasn't asking us things that we had already filled out.





AWESOME Doctor!





That was an amazing answer to prayer!!!








She started off with tons of questions about us, our families, the pregnancy, the miscarriage I had last summer, etc etc etc. Selah was nursing, which gave us time to talk to her.





Then we undressed Selah and she looked her all over. Some of the rash is already gone, so we were showing her where it started out. I didn't see it at birth, so Brian had to go over that part, because it has changed color and texture from her birth and over the past couple months.





Selah Grace fell asleep in Brian's arms, which gave us time to talk again. (SG was such a sweet angel during the appt!)








What we know:





Conradi-hunermann is being studied right now at Johns Hopkins hospital in Maryland. They want samples of her blood to give us the 100% diagnosis. (it's like 99.999999% right now) They will tell us the "function" of her x-chromosome that is carrying it, and depending on the function, we may or may not be in a rush to get samples to the University of Chicago hospital, who will be able to tell us in detail more about her specific condition.





After the appt, we were sent to the hospital to get blood taken from SG and it had all these special instructions to get it to Maryland the next day. And we are hoping for the results to come before Jan 1.





(terrible time getting blood taken by the way! poor SG has bruised hands where they blew TWO VEINS! and then they finally got two specialists in to get it from inside her elbow! Hard to watch!!)











Everything else:





Because it's an x-chromosome condition and she has 2 x-chromosomes, one of them is carrying the chs. In her billions of cells, she has some regular x-chromosomes, and some that are carrying the chs. The ones that are carrying the chs are going to affect her bone development and eyesight. We don't know the severity - and we won't know until we see signs one way or the other.





We also don't know if other things will be affected with a chs-carrying chromosome - things that could cause mental retardation, etc. We won't know the severity either.





We might see at 3 years old that she will need special services. OR we might just notice her struggle with math in high school. And even then, it will be hard to blame chs or just not being a math person. (the math was just an example, but you get the general idea)





The "tests" for these things are just the developmental milestones that we all see, based on months and years of a child.











Dr. S is mostly concerned with her bone growth and cataracts.





She is glad to know that we are already set up with an opthamologist and a schedule (every 3 months SG will see him).





Now she wants us to be set up at Scottish Rite with an orthapedic doctor, and get on a schedule with them. We've had several people offer to help us get into Scottish Rite, but Dr. S said that her patients rarely get rejected. (We already knew what a great rep she has, so we aren't surprised). The only weird thing is that Selah Grace does not have any bone problems yet, but Dr. S said she was going to call and explain SG's condition. She wants us to be proactive, rather than reactive, so she wants us in right now. Scottish Rite will supposedly be calling us soon to get us in with them. (ETA: We've already gotten a call from them! They call our Dr by her first name - good sign! They are mailing us an appt date.)





Scoliosis (for chs patients) is caused by the backbone (forgive my lack of medical knowledge... it's the best I can do!) compensating from legs that are a different length. So the quicker we see a problem with bone growth - specificially her upper arm bone and thigh bone - the quicker we can address it and prevent scoliosis.





There still is a possiblity that SG's bones will not grow "normally" and she will be a little person. A lot of the time, little people have average sized "trunks" and short arms/legs. This could be the case with Selah Grace. We do not know yet. Depending on her size right now, and a formula from the dr, SG should grow up to 5'4" - 5'6" so it will be interesting to see what happens there. We just don't know.











The dr seems to remember having a conradi-hunermann patient back in the early 90s, but it was a different case... a little more severe. She seems to handle a good number of different rare conditions, so it bothers us less that she hasn't encountered chs in a while.








She also brought out the picture that we keep seeing online (maybe you've googled and seen the same thing). It's a disturbing drawing of a baby and a little girl, with very noticeable asymmetry. But it's the one in the medical book describing chs. I told her that the drawing made me so uncomfortable - we keep seeing it.





First, she said to STOP GOOGLING. (which they have told us from day one!)





She made the point that the symptoms of this condition - and even the "discovery" of it - were because of the most severe patients. And that the symptoms listed as "possible" were not all in one child. It's a compiled list based on lots of patients.





She said she was "encouraged" and "optimistic" by the way Selah Grace looks right now - very healthy.








How we are doing:





*sigh*





We were SO thankful for the appt we had. Dr. S was very scientific, but we have great confidence in her. GREAT confidence.





In the car, we would say things like, "That is so great that she was encouraged by how things look! I think Selah Grace is going to be great regardless!" And we'd agree with each other and nod and look confident.... but then there'd be a little bit of a silence and we'd both look out the window.





It's a weird thing when you're dealing with something like this. We just WANT our daughter to have the childhood we had. Fun, care-free, pain-free.





And that might not be that case for her.





And that's hard to swallow.





The unknown will always be a little shadow. No matter how we try not to think about it. It's just the "new" normal for our family will take some getting-used-to.





Those are all my thoughts for now. Maybe more later. Thankfully we have many other things to keep our hands and thoughts busy this time of year!