Brown and Pink Polka Dots : Genetics

We finally got to see the clinic for "this" this week.

On Tuesday afternoon we met with the Children's connective tissues disorder clinic. I was feeling really at peace the day before and that morning which is not typical for me before a big appointment. I was even more at peace when we got off the elevator and standing there was our favorite nurse at Children's. She use to be our GI nurse so she has known Jilli since Jillian was Lydia's size. She did all our check in stuff and we got to catch up a little bit since we don't get to see her as much anymore. First we met with a genetics counselor who went over family history with us and talked a little bit about connective tissues. Then the nurse practitioner came in and talked about symptoms and Jillian and Lydia's medical history. New another genetics counselor came in to talk about the re-run of the whole exome sequencing. I was a little annoyed with her because I have been asking since April when that test was going to be re-run, and when Lydia was in the hospital in July the genetics doctor asked her to re-run it, however we get there on Tuesday to find out she still has not even submitted for insurance approval! She had us sign a form and if I knew this form needed to be signed sooner I would have happily gone to genetics to sign it one of the many times we have been at Children's since April. After she left the room the genetics doctor walked in along with a bunch of students. He did connective tissue assessments on all of us. He said that we are all hypermobile.
Then we got into the diagnosis part... he said that giving us a connective tissues diagnosis would be a copout because we show symptoms of that and so much more. He said that while we have connective tissue issues, there is more then just that going on and to call it that and stop looking would not be the best thing for us. He said we most definitely have Ehlers-Danlos syndrome tendencies, however this is more then EDS. EDS is not completely off the table, but a connective tissue issue is most likely secondary to something else. He thinks it is a mitochondrial disorder. We just keep coming back to that over and over, but have not been able to scientifically prove it yet, however it is the thought of so many doctors we have seen. He wants to do some more digging into mito again. They are going to look to see how much of Jillian's muscle biopsy is left from last year to see if we can do more testing on it. They tested it for the most common 36 muscle disorders however now they would like to test it for the less common or look for changes in the mito DNA that they don't know about yet. I am hoping to hear back soon about how much muscle is left and that if we need to take more that we can do that on September 9th. We are also going to re-run some blood work on Lydia that was off when she was in the hospital. That bloodwork also points to a mito issue. While we are getting blood on Lydia we are also going to get blood to store for DNA testing incase they find something on Jillian's exome sequencing so that we can compare the two. We are following up with this clinic in 3 months.
Other then exhausted after this appointment, I feel hopeful. Too many times we have gone to genetics and I have felt like they just dismiss us saying there is nothing more they can do, however this time we left with a plan and a follow up appointment that is not a year away. This doctor really wants to help us, you could tell by the way he talked that he wanted to help us get to the bottom of this and he wants to make sure we get the right diagnosis. It is a little hard to hear that this is too severe to be EDS, but comforted to know that they are going to figure out what it really is. Science is finding more and more the EDS and mito seem to be connected and effect each other which is why you see similar characteristics.
We also talked to the doctor about ankle bracing. We have been trying to hold off as long as possible but with 2 sprained ankles in 3 weeks it needed to be brought up again. Her PT asked us to ask the doctors at this clinic their thoughts and they said it is time so we will talk to her PT on Monday to see what the next steps are. We need to help support her ankles better.

Other things going on here right now:
-We came home Saturday to our garage messed up. Its one of those situations where you walk in your house wondering what is missing and if anyone is still in there, however to our relief nothing was missing. We went back to the garage and found that while stuff was messed with, nothing was missing. Sunday morning we were leaving for church and found more of a mess and I watched a raccoon scurry across the garage. We came home from church and the garage was trashed! There was stuff all over the floor. On top of that the raccoon ate the wire for the sensor for Brent's garage door and broke the spring on mine. Brent spent part of Sunday fixing things the raccoon trashed. Brent got the raccoon out on Sunday. Oh the fun of living in the country!
-Brent's tonsils have been infected for months and are just getting worse. He went and saw his ENT last week and they said they need to come out asap as his body is now struggling to keep up with the infection. He is having surgery to get his tonsils on August 31st. Hey if one person is having surgery in our house, might as well have 3 people in our house have surgery in 2 weeks!
-We are in full swing getting stuff ready for the Children's Hospital Run/walk!
-Lydia also had a weight check in GI on Tuesday. She was 9lb 10oz. Her nurse comes today so we will see what she weighs on her scale. She still fits in newborn clothes and diapers but is gaining weight each day. She is also smiling more. We have switched her formula again to Elecare to see how that works for her and so far she is having less gas pain! Yeah! Of course Elecare costs even more then Alimentum and exponentially more then regular formula but if it is what is best for her then that is all that matters! I still have not heard any more from GI...
-Last night we took the girls to the festival in Lake Geneva. We were so excited because on the Children's really accurate measuring tool Jilli measured tall enough that she should have been able to go on the rides... however they have their measuring sticks set off at the festival and said she was 2in too short to ride anything (even the marry go round!). Thankfully the fire department was there doing kids activities so Jilli got to do that and then we took her over to the park to swing. Maybe next year she will be tall enough to ride rides. She handled it like a champ though and there was no tears about it.