Samantha had her three month follow up on Friday with our local metabolic/genetics doctor. This is Dr. Falk, the doctor who first mentioned Leigh's disease a week or two before Sam's gene mutation was found (thus confirming the diagnosis). Dr. Wallace also sat in on the appointment (he is a top mito researcher who is now working at CHOP) so he could meet Samantha as well.
The good news is that the doctor felt in general that Sam was doing really well. Sam talked more in the appointment than last time and even took some steps for the doctor and her assistant Emily. The bad news is that Sam's weight is not going up like it should. She is still growing (height), which is good. But the doctor is concerned that if her weight continues to be stagnant, it could be a problem at some point. So, to be proactive she'd like us to be in contact with a GI again to discuss ways to help Samantha gain weight. She's a picky/small eater on a good day. Being a small eater combined with a metabolic condition (she may burn more calories than most kids despite not being very active) is a double whammy and makes for a very tiny kid. I felt like Sam was doing well with weight a couple of months ago, but she was sick a few weeks ago and prior to that just wasn't eating as much. So, she may have lost a little then. We stopped her carnitor a few weeks ago and her eating has increased some. So for now we'll keep away from the carnitor and contact a GI to see what else they may suggest.
In other medical news, my preliminary blood test has come back as negative for the mutation that Sam has. Apparently it is pretty rare for these mutations to be new and not inherited (Dr. F and Dr. W discussed that 1 out of 200 mutations they find in cases like Sam's are "new" mutations). They are going to re-run a more sensitive version of the test on my blood once my insurance approves the test. However, I wouldn't be surprised if it is new mutation in Samantha only because her condition is pretty obvious now and she is so young. And, her blood level was only 14%. I'm 38 and have never shown any symptoms. So even if I did have it, it would have to be practically non-existant as her mutation has been shown in previous studies to be pretty potent even at low mutant loads. On Thursday they also collected saliva and urine from Samantha so that they can also run tests on those tissues to see what the percentage is in them. It is assumed that Sam's brain tissue would have a higher percentage than her blood--but we aren't going to do a brain biopsy, obviously.
As a mom, I had very mixed feelings about getting tested for the mutation. The same mutation can also cause MELAS (which can present at any age). So, if I did/do have the mutation I'd be at risk for developing MELAS at some point. Also, if it "runs" in our family I'd then worry about my nieces and their future kids. As Val says, it's a good thing for me not to have it. But, part of me had come to terms with this mutation being maternally inherited. It feels weird for me to know that Samantha has something that I somehow escaped. I talked with the doctors on Friday about how these things happen and asked if it was something I did at some point to cause this. Of course I knew the answer was no, but I had to ask anyway. And yes, the answer is no. They really don't know why or how new gene mutations happen. It could be something that happened in some of my eggs (that were formed when I was formed way back 38 years ago). Or, it could be something spontaneous that happened while Samantha was being formed. They just don't know.
Speaking of not knowing....I think that will be our theme with Samantha going forward.
When you get a diagnosis like Leigh's Syndrome and then you rush to research and learn about it, you read some pretty scary statistics. As a parent, you want to try to prepare yourself for things before they happen as much as you can. But the truth is we can't prepare because we, and the doctors just don't know what is going to happen (either positive or negative). The doctors both stressed on Friday that Samantha is an individual and her condition is HER condition so we really can't and shouldn't compare her to anyone.
We'll continue to take it one day, one word, and one step at a time with our sweet little one. In addition to getting pretty good at speaking, she's also developing a quite a sense of humor. She makes us laugh daily, and that's always a good thing.
Until next time,
Monica
