Brown and Pink Polka Dots : Madison Genetics

Yesterday was the big day. The long awaited genetics second opinion in Madison.

We thankfully found our way there and got there with plenty of time. We even got to stop at Einstine Brother Bagels on our way there which is one of my comfort foods and reminds me of a family that means a lot to me. We checked in and headed to the waiting room. Everything just felt so new. We have lived at Children's in Milwaukee for three years (Jillian's first hospital admission was the first week of February 2013) so it felt weird being someplace else and figuring out their routine. The waiting room was an odd experience but that was nothing to do with the place but the people in it.
We were called back for Jillian's vitals. Even though it is the same computer system as Children's in Milwaukee, none of her medical info is in their system, they can look into Milwaukee's charts on her but that does not add all of the stuff to their chart for her so I was VERY grateful that I had taken the time to write down all of her medications and doses before we left home so I was able to just hand the woman the paper with all of it on there so they were able to input it quickly.
We then headed to a room. First a genetics counselor came into the room. She asked us about why we were there and what we were hoping to get out of the appointment. She was very upfront with us though in that they had looked at some of Jillian's stuff and that we probably would not be getting answers at this appointment. My heart sank a little but I kept going. In my binder that the first person had was all of the important genetic testing information so the genetics counselor then went to see if she could get my binder when they were done inputting meds so she could make sure they had all of those documents as well.
The doctor then came in. He commented that we have been able to get a lot more testing done on Jillian then they are normally able to get insurance companies to cover. As much as it has been a pain and a trial that Brent has been employed at 4 different places in the last 3 years, we did have the blessing (and frustration) of working with multiple different insurance companies and different ones covered different tests. He then told us that there really is no other testing that we can do (insert glass breaking noise) and that science probably is just not at the point yet for us to have answers. When they do genetic testing they don't look at all of your genes and they only look at genetic errors that they know what they do. There is still a TON we don't know about different genes. We talked about Jillian's symptoms a bit and he did an exam of her. He seamed very intrigued by her.
Jillian has one gene that is a known mutation, however she only has one copy of the gene and it is recessive (meaning she would only have the disorder if she had two copies of the gene) The doctor said he would look to see if there has ever been anything studied about people with only one copy of the gene and what the disorder looks like in muscle biopsies of people with only one copy of the gene. When we left I looked into that disorder a little bit however while that disorder is a muscle disorder, the disorder only effects people when they try to exercise (and does not effect them when they are not exercising). While my 3 year old likes to try to do children's yoga, she has never really exercised in her life. She can walk quickly at times however she is is not able to run. She is not trying to lift heavy weights. Her body is effected by whatever this is 100% of the time, not just when she moves.
The one thing that really made me happy was that they made no mention of her being cute. See Milwaukee genetics has always commented how she is cute, thus there can't be anything major wrong with her because she is cute. I fully understand that there are many disorders out there that cause changes in facial features. Let me state now that these kiddos are not any less cute because of their facial differences. It always rubbed me the wrong way when they said that because obviously there is something going on with Jillian, and I felt it was rather disrespectful to other kiddos. Thankfully the doctor we met yesterday never made that comment. He commented on how she does not have some facial features of some disorders but it was not in a way that was dismissive of Jillian's medical needs or being disrespectful to other children.
They said they would look over her chart a little more and look into that particular gene a little more and they would give us a call at some point, but it was very much a "don't get your hopes up about this conversation."
We then decided we needed to do something fun for a little bit and we headed over to the Madison Children's Museum. Jilli had a great time playing and showing daddy all around (Brent had not been there before but Jillian had). We had some good family time together.
We then ran to Janesville and ran a few errands. Im starting to work on stocking up the things we need for this baby while they are on sale so we ran to Babies R Us (the things that are disposable, diapers, breast milk bags, ect... the stuff that was all used up with Jilli, thankfully most of Jillian's big stuff will still work for this baby!)
We then headed to Whitewater to meet Jaime, Jason and Emerson for dinner. It was nice getting to see friends at the end of a long day! Jilli was really cute, she was telling Jaime and Jason about the museum and Emerson started to cry and she looked at him and said "its ok, you can go to the museum when you are bigger." She also wanted to share her iPad with Emerson.

So where does this leave us... my first thought that comes to mind is "WITHOUT A _______ DIAGNOSIS!" It is really hard to explain this feeling of having an undiagnosied child. You bring your kid to the doctor, they tell you what is wrong and how to fix it... that is the mindset of our culture. People ask what Jillian has... i don't know. They ask if she will grow out of it... probably not, but I don't know. People ask if she has a shorter life expectancy because of this... I don't know what "this" is, so I don't know. I know exactly how my calories she gets a day, I know about each of the 11 medications she gets daily, I know the digestive system and respiratory system better then I ever have, I know the days in and days out of taking care of a feeding tube... but I have no idea what is the root cause. Its frustrating.
To be honest, I woke up today feeling like a tuck had hit me (then having a cavity filled this morning did not help). I don't sleep much before big appointments, and to be honest I don't eat the best either (although I really pushed myself this time because I have a little baby in me that needs to eat). Big appointments are emotionally exhausting. Brent and I made the choice early on during Jillian's first hospitalization (they were looking for brain tumors and stuff along that line her first hospitalization) that we were going to have a positive outlook on all of this. That we are blessed with an amazing little girl no matter what and that we are going to find the joy in her and not live in sorrow because of health challenges. I have seen too many people let situations suck joy out of their life, and I am determined to always find joy and hope in every situation...
But what I have to remind myself is that still sometimes things suck, and it is ok to be frustrated. I don't give myself a lot of slack to be frustrated, I push myself to try to find the positives, and while there are so many positives with Jillian, there are going to be things in this life that are frustrating and mentally exhausting and it is ok to feel those emotions too. And I need to not get mad at myself when I find myself getting frustrated that we don't have an answer yet.
So what next? I am not sure. I am going to wait for their phone call (please let them be more organized and on top of things then Milwaukee's genetics department!) and see what they have to say, but honestly I am not expecting anything. We see neurology in Madison next month, so we will see if they have any ideas. Past that, I'm not sure. We will continue to treat the symptoms as they arrive (thankfully since Monday night her lungs have sounded better). The questions swirl in my head of how far do we push for an answer? How many doctors do we visit? When is enough, enough and we just accept that medicine might not have a name for what "this" is? There are too many body systems that all have issues that seam to stem from a muscle problem for it all not to be connected but what if there is not yet a name for whatever this disorder is? At what point can I confidently say we tried everything we could to find a name for this? At what point does it not feel like we are giving up on her if we stop actively searching for a name for this? Will we always be searching for a name? Are we just not meant to have these answers? Is the best we can do for her is treat the symptoms?
These are the questions that I don't have answer for today, and might not have for a while

So for today I hang out and play baby dolls with my little girl. I laugh at her funny comments (like she informed me the baby is peeing in my tummy, thanks kiddo, I try not to think about the fact the baby is peeing inside of me). I just love my little girl for who she is!

What I do want to do today is thank our support system. I had multiple people send me messages yesterday letting us know they were thinking about us and praying for us. I can't even start to explain how much that means to me. Thank you to the people who when they found out we did not get answers were very supportive and loving. I am SO blessed to have awesome people in my life. And a special thank you to Brent for being an awesome husband and dad. For walking this journey with Jillian and I and loving me even though I get crabby sometimes (I will full admit that I am crabby today between the emotional weight of this and my tooth being drilled into, im probably not someone you want to be around today but he worked a full day and then came home and made me mac and cheese and changed Jillian's poop while I wrote this post) Thank you to everyone who is a part of our journey and loves us!