Brown and Pink Polka Dots : Where are we right now

Jillian's doctor and I discussed how we are on a medical merry-go-round right now!

So last Wednesday we met with neurology in Madison. He told us after a long exam what he is almost positive he knows what Jillian's overarching diagnosis, however that even though he has seen "this" before he can not make the official diagnosis because "this" does not fall under the neurology umbrella. He told us to contact Jillian's pediatrician to see what we need to do next. I sent her a message last Wednesday night once we got home from neurology, however she only works on Monday and Wednesday so I had to wait. Monday afternoon her nurse called me and said that the doctor wanted to talk to her husband who is also a doctor to see what we should do next and then she would call me on Wednesday. Her pediatrician and I talked yesterday afternoon and she said that she feels like we are going in circles. I told her I really agree. Jillian's ped did not disagree with the neurologists thoughts but said that we need to see someone else for the official diagnosis. We were then trying to figure out the best person to see for the official call. We decided that genetics is probably the best place to go back to, since "this" has a genetic component however there are multiple lines of "this" and only a couple of them are genome sequence so that would make sense why it did not come up on her exome sequencing (there is no blood test, it is clinically diagnosed).
I decided that since we are established genetics patients in both Milwaukee and Madison that I would just contact both of them. Honestly I felt a little bit like I was throwing spaghetti at the wall and waiting to see what stuck. Madison genetics called me first thing this morning (thank you!) and said that they looked at the note from the neurologist and while "this" is likely in their clinic they will not make the official call for "this" until a child is 10 or 11 years old and the daily joint pain part of it starts. She said she will talk to the geneticist but she has a feeling he is still going to say to come back in one to two years! Ugh!
I have not heard back from Milwaukee yet...

As a friend put it last night, it is like we have been given a glimpse of what is going on. Right now I feel a little bit like we are running in a maze. Our life tends to go in these spurts, were it is just our everyday in and out, doctors appointments, therapies and medical equipment are normal in our world. Most days I dont give it all much thought, but then there are times like this were we are on a high speed chase. These times of searching don't typically last long, but it is a whirlwind in the middle.

I am not ready to let out what "this" is yet. I don't want to have to explain it and then say they changed their minds, honestly that would suck and I am afraid of confusing people (it is not anything we had though of before). I will state that if "this" is it, there is no cure, no treatment. It is considered to be a rare disorder (a disorder is considered rare when less then 200,000 people in the US have it) It does not change most of our day to day life right now, however there are some different precautions we would need to take, some choices we would need to make as she gets older and it has some things that we need to watch for. It would mean that how her organs function right now, might be the best they function and we could see them get worse but at no predictable rate. The hard thing with "this" is that it is a continuum, some people are only effected by it mildly, other people have organ involvement the deteriorates over time and other complications. So far Jillian's neurologist, her pediatrician and her therapist all agree that "this" is logical, but we need genetics to make the official call. Also, if "this" is it there is a 50% chance the baby will have "this" as well however only time will tell since there is no blood test for "this" and if the baby does have "this" we have no idea where she will fall on the continuum.

I want to know answers. I want to know if "this" is for sure it. I have spent a ton of time researching and reading this past week. "This" makes a TON of sense but we need genetics to make the call. This week has been rather emotional digging through the layers of "this" and figuring out what it entails. I have spent time reading blogs of other people effected by "this" because honestly that tells me a lot more then the paragraph several medical sites have about it. I want to be educated about "this" so I can have informed conversations with Jillian's doctors.

I want to thank the people who have been praying for us. We could really use prayers right now... I really don't want this to take another 7 years to diagnose. Thank you to the people who have been texting and e-mailing with me this week to keep track of how things are going and offer support. My emotions are on high right now and I am every thankful for people who have lovingly come next to us and did not make us feel bad for having emotions through all of this. The road to getting a diagnosis for your child is scary and for some people they come to a diagnosis quickly, others of us are on the road for a while, and while most days being on that road starts to feel "normal" there are times like this past week where it feels like we are driving on icy roads. Everyone has "stuff" in their lives and this is just part of ours and I just want to thank the people who love us through our stuff.

Jilli cuddling in bed with me. This is her favorite part of the day (and one of mine too) we curl up in bed together and watch Full House. She has "You got it dude" down!

Therapy is exhausting. This was her most of Monday afternoon/evening

Daddy reading Jillian her book. He had Monday off for Presidents day so we got to spend some family time together.

Jilli reading her Daniel Tigger book... the little girl in the book has leg braces (if "this" is it she will likely need leg braces as she gets older)