An official diagnosis in sight?

Dylann has had a busy week! It started off with craniosacral therapy last Monday. Angel continues to talk about how great Dylann is responding! She is learning to do a lot of things on her own between sessions. I asked her if she thought this work can help with muscle development after the conversation I had with her neurologist last week. She said absolutely. She also very nicely told me to stop asking the doctors prognosis questions because she has seen so many kids defy and go so far beyond what MDs have said. :) it was something like "I would invite you to not ask them what if questions." Lol. I think it's hard as a parent because it would be so lovely to know what the future holds for her so I can know how to be a better advocate and support for her. Angels right though, it ultimately is unpredictable and just causes me more angst. So, I vow to try to stop asking! :) 

 Dylann had her hearing retested in her left ear and there's still fluid being retained. We are to check back when she is 6 months and her ENT may consider tubes. She's talking up a storm though so it doesn't seem to be hindering that in any way! 

 She had physical therapy and occupational therapy as well last week. Daddy even got to take her! They were happy to see how much stronger she'd gotten since her last session. She has developed some torticollis so we are continuing stretch for that. 

 She had a busy weekend ..her brothers 4th birthday party and her baby dedication. I added a picture below of her in her pretty dress!! So smiley like always.

 Today was the appointment where we might be making headway on what caused her contractures. She had an appointment with her genetic MD at Children's. The last time we were there Dylann had her casts on so Dr Dugan hadn't seen the banding. Both her and her coworker looked at the marks on her calf and thigh and are actually confident that they aren't from amniotic band syndrome. I think she had wanted to conclude it was that because then we would have a diagnosis and it would mean nothing genetic or otherwise was going on. So, she is testing her for a panel of distal arthgryposis conditions that happens from a mutation in a gene that stops the creation of a protein that is only needed uetero for muscles and joint development. One of possible diagnoses is what I have thought she had from day 1 so that may be confirmed soon. Mothers know best, right! The good news is that none of them are progressive and things will continue to improve since that protein is no longer needed. The bad news is that it's dominant inheritance so her kids would have a 50% of getting it if she has kids someday. There is another metabolic panel she is running at the suggestion of her coworker because Dylann has inverted nipples and joint issues which are two main symptoms of the diseases. These are much more progressive but her MD doesn't think she has them since she has no developmental delays and almost always is seen with that diagnosis. It will take 3 months to get this approved by insurance and processed by the lab. We are good at waiting! :)

Getting bigger!

Dylann turned 4 months on Thursday! I can't believe it's been that long. She had her well baby appointment this week and has moved on the charts to 10% weight and length!! She's talking non stop and so smiley and happy!

Her last craniosacral appt last week went really well. Angel said she's starting to maintain all the things she's doing for her so she can do a lot of her own work between meetings. We are moving the appointments to every 10 days. 

Dylann had a follow up appt with her neurologist this week. Overall it went pretty good. He wants to see her one more time at 8 months to make sure nothing else creeps up but he doesn't think it's neurological and feels she's progressing fine cognitively. He said we should spend time with the doctors who can more impact her motor needs to get her walking and running.

I told him my concerns about whether or not to treat her hip since there's a 75% chance only of success and kids can walk with displaced hips. He said "dr sunberg is the best around; I'd let him operate on my child. I know he's not the most warm and friendly guy because he's busy and always running but he's the guy all the doctors in town send their kids to. She's in good hands."  And that's that I guess!

We did spend sometime talking about her muscles so I asked him if he thought that as she grew if her legs would start to look very thin and atrophied. I had seen this in a lot of the literature I had read. He said he suspected her legs would be very thin with little muscle and have thinner arms. It mad me feel a little sad all over again which happens after most if her appts. Like I'm back at that first appt all over again. I just worry about how others will treat her throughout her life. High school was hard enough for those of us who didn't have a medical condition. It seems more harsh now. I don't ever want her to feel bad or different but I know I can't control that. :( I also know things could have been a lot worse with the laundry list of things that can cause this so I know to be very thankful and grateful. 

Next week she has physical therapy, craniosacral therapy, her hearing rescreening, and a follow up with her genetic counselor. I think she is going to start testing her for more things to see if we might be able to get some answers as to what caused her arthrogryposis some of which would be hereditary if she has kids someday.