Genetic results

Miss Dylann has had quite the week!! First she did her first roll from back to stomach and independent sitting!! We were told she wouldn't be strong enough to meet her gross motor milestones on time. Well, they clearly don't know miss Dylann!! :)

She saw her other neurologist this week. He was very happy with her progress. He said her muscles all look great. There is some expected weakness in her calves and her left shoulder but they continue to get stronger between sessions. We don't have to go back until she's a year. 

Not sure yet if we are going to start MNRI that I put in my last post. We had our initial session and it's very expensive and her only opening is at 1145 on Thursdays. That would be a 2.5 hour round trip adventure so not sure I can swing it for work. I'm going to see if insurance makes the exception (doubtful) and get some more info on its effectiveness from our OT before making a final decision.

I also started working on starting a annual 5k in Minnesota to raise money for arthrogryposis awareness. Through my research, I found a Facebook group for moms with children who have arthrogryposis! So I have been learning a lot. I get to meet many of them at the annual conference in July. I also met a mom who lives in Minnesota and takes her child to gillettes. They see the orthopedist I was thinking of switching to and love her! So, I think I have finally made the decision to change! I'm going to call the nurse this week. I feel so much better about this decision!

And lastly, and possibly the beat news, I got a call from Dylann's genetic MD today. All of Dylann's tests came back normal!!!! They ran a panel of 9 distal arthrogryposis diagnoses ( sheldon hall, freeman, beals syndrome, etc) and a carbohydrate deficiency panel and everything looked great. She doesn't have anything else she would test for at this point and will see her again at 1 year. So we still have no cause or reason for her condition, but I'm thrilled with this and am okay with not knowing now that the last group of major diagnoses has been ruled out.

Phew... And it's only Wed! :)

Treatment plan updates

A few things have happened in the last few weeks. First, I attempted to get new braces through Dylann's physical and rehab MD. She has recommended we keep stretching her ankles despite the stop in trying to correct their placement with casts. Her physical therapist 

agreed. The problem is Dylann has outgrown her other ones. Jeremy took her in Friday after an order from the nurse to her fitted for a different off the shelf kind for now. Well the orthotic tech didn't have a clue what we were talking about so after a long appointment he ordered her something. I was at gilettes today for another appointment and asked if they were in. A different orthotic tech came in and said what was ordered wouldn't work and wanted to see what her orthopedist said today who ultimately cancelled the whole plan. He said it wasn't worth spending anymore time and money on braces that won't do anything. To which I told them how frustrating it is when each MD tells me something different and I run in circles.

The rest of that orthopedic appointment was equally as disappointing. He said her ankles are too small to operate on yet and that she's very petite. The risk would be he would have to redo the surgery in a year anyways. He said he needs to lengthen the heel cord as well as remove a bone from her ankle to have more room to get them flat to the ground. He said maybe in 6 more months she'll be ready. He also said he won't do the hips with it and that will be when she is over a year to se her desire to ambulated first. He again stressed the 25% chance it will redislocate and have blood supply issues even with surgery. Momma left pleased from that appt per usual.

We are going to start a new therapy that angel recommended so I'm feeling hopeful about that it's called  mNRI or the masgutova neurosensorimotor reflex integration. I don't fully understand it all but it has something to do with the genetic motor reflexes and resetting the nuero pathways for her to move her joints better. I know that it's weekly to start plus 5 to 10 hours of things I will do at home to allow for the repetition. It's expensive so I'm in the process of drafting a letter to our insurance to see if they will consider covering it since it's excluded. 

So, not too much going on, lol. She turned 6 months old yesterday and absolutely loves her big brother!

April updates

Things have been somewhat quiet this month. Two days after my last post Dylann spent the evening at children's hospital for pnuemonia. She's doing much better now but made for an interesting birthday for Micah. 

Dylann's craniosacral therapy is every other week and is going super well. Dylann's getting a lot stronger and is almost sitting by herself despite what her neurologist said about her core strength being behind. We've been working a lot on her shoulder strength and trying to have her start to put weight on her knees.

We got our approval letter back a week or so ago from insurance to cover her genetic testing so she went and gave blood Monday. I think it will be a 2 to 3 month wait now.

Dylann saw the hand/arm doctor at gilettes yesterday. They wanted to do an assessment to see if she needed any interventions on her arms. Luckily it was the first good news appointment. The MD said they are perfect! They are the right measurements and tone and full range of motion. She still has some tightness/weakness in her left shoulder but therapy is working on that. The doctor said Dylann was far above average for kids with arthrogryposis in her upper extremities! I can stop worrying now about the nurse who told me her arms were too short in the hospital! :)

The next appointment with orthopedics is May 14th. I'm anxious to see when he's going to operate on her ankles. She's still happy as can be!

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.

More doctors

Things seem to be picking up again. It's hard to keep up with all this and be back at work full time. Hopefully the appointments will slow down eventually!

Dylann has had 2 meetings with her physical and occupational therapists and have been helping a lot with stretching and strengthening her left arm muscles. 

She continues with Angel for craniosacral therapy which is going well. We keep working on her hips and legs. Her orthopedic MD even commented on how much her left knee had improved.

Last week she saw a neuromuscular neurologist for a consult to see if he thought there might be any muscular issues that are the cause of her arthrogryposis. Overall he thought her muscles were doing well. He said she has mild muscle loss on her shoulders and thinks she might have had some nerve damage in her left shoulder due to positioning in utero both of which will strengthen over time. He doesn't think her arthrogryposis is muscle related. We will see him again in May though to keep checking in.

This morning she started with physiology rehab MD who will keep monitoring her to see if we ever should add more services. She thinks she's doing well for now. She wants us to use her braces a few hours a day again just to stretch her ankles to help continue to increase her range of motion. Otherwise, just keep on doing what we've been doing. 

Next month we take her hearing test again and see her genetic MD again to test for a few more things. 

February updates

Not too much has been going on lately. Dylann continues to go to weekly craniosacral therapy and we continue to see little improvements. We just finished our assessment with the birth to 3 program and Dylann will be starting physical and occupational therapy with the school district twice a month.  We also meet with gilettes rehab MD soon to see what else might be recommended.

Dylann had an appointment today with her orthopedic doctor at gilettes today. He took an X-ray of her hips and the left one was still out. He thought her knee range of motion had improved some. Her ankles looked the same, not better, not worse, so he said she can be done with her braces now. He said he wanted to keep waiting to see what she decides to do with her motor skills so he wants us to wait until she's 6 months to check back. He said if she wants to start ambulating and is pulling herself up etc then he would be more eager to do her hip surgery and ankle surgery sooner. Otherwise he's in no hurry I guess. 

So her legs will get some freedom from all the restrictions she's had since two weeks old and we will take a 3 month break. We see the neurology specialist Friday who specializes in arthrogryposis to see if we are missing anything.