Since she was diagnosed with hypotonia, we've been searching for a more accurate diagnosis. The way this is done is through genetic testing. As I mentioned in the hypotonia blog post, we started with the Genome Wide Array, which tested Molly's chromosomes. This testing did not find anything, which was a big relief for us, but still left us with questions. We decided to move forward with the next level of testing which required Kevin and I to also participate. This testing is way more in depth and took 6 months to come back.
Right before Christmas, we had our routine check-up with Molly's neurologist. She was asking if the results had come in yet, being as it had been 6 months since testing. At that point, we had not heard anything, so after multiple phone calls I finally received a call stating Molly's results had come back and there were "findings consistent with her condition," but didn't say what they were. The woman I spoke with stated that the geneticist would not be able to see us for another 6 weeks and wanted to know how I felt about that. I just waited anxiously for 6 months for results and now I had to wait another month and a half. I obviously was not happy and on top of it all, my mind of course was racing at what the results could be. Luckily, we already had an appointment with Molly's pediatrician the next day. I told her what was going on and she was beyond furious. She was on the phone before we even left the office and as a result I received a call from Molly's geneticist that night. He was very apologetic at how the situation had been handled and also spent time explaining what some of the results were.
First he mentioned Molly's macrodactyly and said the PIK3CA gene is involved in that, but it was not related at all to the hypotonia - something we already were pretty sure of. At that point, it seemed like I was on the phone with him for an eternity just waiting for the results relating to the hypotonia. When he finally got to it, I was told there were gene changes in 4 of Molly's genes. He said 3 out of 4 didn't seem relevant, but the one they were looking at was the AP4B1 gene which is thought to be associated with a condition called Hereditary Spastic Paraplegia (HSP) and he believed Molly had "Type 47." He mentioned that only 7 other children in the entire world had this particular diagnosis documented in medical journals. 7 kids... in the world... He said this is typically an adult-onset disease. This was a lot to take on and in the moment, I tried to ask him all of the questions I had swirling in my head. I wanted to know what this meant in terms of her development. He indicated that she will go from having low muscle tone to high muscle tone, almost resembling the spasticity seen with cerebral palsy. After hearing paraplegia, I asked if that meant Molly will be paralyzed. He said at some point it may be hard for her to move. He also mentioned that in terms of future pregnancies, we have a 25% chance of having another child with this condition. If I were to get pregnant again, he mentioned that we could do amniocentesis or CVS testing at around 12 weeks to determine if the baby will have the same genetic issues. He said that I would have the option to abort if it did. I'm sorry, what? Have you seen Molly and all that she is doing and all the happiness she brings to everyone she comes in contact with? It made me angry to hear this, but also made me wonder what we are in store for if this is really an option they present. He said the other option I had was to do in vetro fertilization with pre-implantation genetic diagnosis. It is basically IVF where they would do genetic testing prior to implantation.
After all of this, he said that this was the diagnosis they were leaning towards, but a clinical evaluation was also necessary. We had that appointment scheduled for January 6, 2016.
We didn't actually get to see the geneticist that we had been seeing as he was out of the country and in order to get a quicker appointment, we agreed to see the Fellow working alongside him. She had seen Molly prior to this appointment so we felt comfortable having the appointment with her. Joining her was a genetic counselor who actually did most of the talking. Going into the appointment, Kevin and I were optimistic. I think we secretly hoped that what the geneticist had said over the phone was a mistake. We thought they would look at Molly and see how far she had come and look at all of her progress reports and say they were wrong. That didn't happen. A lot of what was said over the phone was reiterated. However, she did share some new information:
-This gene location (47) was only discovered in 2012.
-There are over 50 types of HSP, each numbered based on when they were discovered.
-Most of the known cases of HSP 47 come from consanguineous families, meaning people decending from the same ancestors. We were kind of shocked to hear this. We know that Kevin and I obviously are not related, and not that we needed confirmation, but they did confirm this by stating the genes Molly received from each us are of two different variants.
-Kevin and I are both recessive carriers of this gene mutation, again giving any future children a 25% chance of getting HSP.
-Between 2 and 5 years old is when the change in muscle tone will occur, going from hypotonic to hypertonic/spastic.
-By 10-14 years of age is when they said the spasticity will become severe enough where Molly will likely need a wheelchair.
-When the spasticity sets in, botox injections may be used to relieve the tension in the muscles. Somewhere between 60 and 70 injections will be needed, requiring Molly to be sedated. Botox has a 3-4 month effect so it would need to be repeated that often.
-Molly will be followed by a neurogenetic team consisting of a neurologist, geneticist, a PT and an OT.
Leaving the appointment, we were obviously devastated. It was almost as if we had to go through the process of having to grieve the loss of the child we thought we were going to have. It took a while to process everything that we were told and after reading the 4 research articles that exist, this diagnosis just does not seem to "fit" Molly, nor are we going to let it define her. The kids we read about have severe intellectual delays, seizures, do not talk, walked around 3-4 years of age; all of which does not match Molly at all. The hardest part has been the lack of research and evidence on this disease. When you are given information based off of 7 others, it is very hard to label Molly the same way, especially when similarities lack. It has been almost 2 months since our appointment and we are still trying to be as optimistic as possible. We look at Molly and celebrate all of her accomplishments everyday! Since our appointment, she was accepted into a research study at the National Institute of Health in DC. We are hoping for some more answers there.
Here is a recent picture of Molly from when we were in Disney World a few weeks ago. She was so happy to have her walker there - she was running down the sidewalk with it!
As hard as this has been, I just keep looking at this beautiful girl and know she will prove everyone wrong. She is strong and determined and will not let anything get in her way of achieving anything she wants. We do things a little differently than others and that is ok with me. Here is one of my favorite poems that truly explains what it is like to have a child with special needs.
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