It started this morning with an email from NIH saying that because there are two kids involved in our case and so much testing that they want us there for two weeks... in February! I will admit, at first I felt kinda bummed that it is so far away and February tends to be a hard month for Jilli. Her body really struggles in February and while it is good for them to see the real deal of what is going on... doing that at a hospital far way from home and having a crash would be hard. Also NIH can not treat they can only do diagnostic things so we would likely need to go to a close by hospital if she crashed. But I prayed and said that I didn't understand the timing but that I was trusting that God had a reason... I just asked that at some point He would give me a clue to what his reason was. I am a planner... a list maker... I like things to be in my timing and every time I think I have learned that lesson that my timing isn't the perfect timing I learn it again. Special needs parenting is a lot of learning that you don't have perfect timing and learning to wait... a lot!
We already ad Lydia's genetic appointment scheduled for today. I wasn't expecting much... we had been told by others that there was nothing really to tell us for the genetic report so I went alone with both kids. First off the clinic was very warm today... I am a naturally cold person... I was so warm.
I thought we were just meeting with the gene counselor so I was surprised when the doctor walked in with her. He asked what other people had told me about the report since he saw in notes that others had mentioned it. We went over the muscular dystrophy gene and how she only has one copy and that Jilli doesn't have that gene and that type of MD doesn't fit. We talked about the second found gene while both girls do have but they each only have one copy of the gene and that gene is known for significant cognitive delays which the girls don't have (Lydia is already counting to 12!)
And then things got interesting....
They said they found a gene... that both girls have two unusual copies of... one from me and one from Brent. That this is not a known gene variance however they have a lot of backing to believe this is the gene...
so what now...
The hospital is taking up a research study on this gene to prove that it is the disease causing gene. There are some good reasons for them to believe this is it however they have to go though all the steps to scientifically prove it since this is an unproven gene variance. This will take several months but could take up to a year however their goal is for us to know by February if possible. There is a lot of testing and research stuff that will be going on with us and we might need to do some other testing but likely not much, this will mostly be research lab stuff right now.
What does this change... right now not much. This will likely not change any treatment... they said today that it is very important that we keep up with GI and pulmonary and keep those supports on board and to keep the girls in PT.
We are working with a new gene variance here so even if this all pans out it likely will not change anything for the girls...
but it would be a diagnosis....
it would be validation.
And for a mom who has been questioning for 5 years if she was pushing enough or doing the right things and all the other questions in my head... its a name! Its something to say in the store when people ask whats wrong.
There is a lot of power in having a name.
Tonight we are overwhelmed.
Tonight we don't know what to think.
My heart is guarded however this is the most promising test we have ever had... this is the closest we have ever been to having a true diagnosis. I'm scared to let my walls down but at the same time on the brink of tears.
Also Lydia's muscle biopsy is back... it looks just like Jilli's.. atrophy of the type two muscle fibers and other little changes but nothing enough to be able to say anything definitive from the biopsy.
The reason no one else knew about this was because the gene can not be presented in a clinical standpoint yet until they do the research on it. There are rules and protocols with gene testing. Its not on the paper report that everyone can see because it can't be yet. There is still a lot we don't know about the gene but in time we will know more. This is why we needed to meet with genetics. We also needed to sign paperwork agreeing to the research.
So where does this leave us...
waiting... but waiting while people are working.
We do not know what this means for our NIH trip yet. We need to talk with people and find out what is going on with that.
Tomorrow is also the 5yr anniversary of Jilli's first surgery... her first tube surgery (which had an issue and needed to be redone a few weeks later)… its also my birthday! The girls like to do big medical stuff around my birthday (Lydia went NPO and off breast milk on my birthday right after she was born... nothing like telling a hormonal mom on her birthday that their milk is not helping, thankfully we have a very loving doctor who was so kind in how she told me but hormones were still high).
A HUGE thank you to the RMH staff who have become family to us and they processed with me once I got back from the appointment and helped me get the kids to the room and celebrated with me and understood the weight of it with me. I called Brent from genetics crying while he was at work but I am so thankful for the love our RMH family showed us today. I am also thankful that my parents came and hung out with the kids so Brent and I could have coffee and talk. This is very overwhelming. This is a day we have been waiting for a long time and it still just doesn't seem real. Thank you to the small group of people that I messaged after I got back to the room, thanks for the support and love in a moment when I felt like my world was spinning... I am so thankful for the people who invest in us. There is no way I could have driven home after that appointment so I am SO grateful for RMH. Also a huge thank you to the team we met with today, they were so kind and asked me over and over if I had questions and took time to talk with me, I am very grateful for them!
And with that... I am going to try to sleep... maybe lol
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