I’m not in a good place this morning. That business about letting go of resentment that I wrote about a few days ago seems to have come back to mock me. I have finally gotten around to watching a webcast of a seminar at National Institutes of Health last spring, ‘De Novo SPG4 Inaugural Symposium.’ I had this on my watchlist since last May and never got around to it. It’s a bunch of scientific presentations about Sarah’s rare genetic disorder.
At the beginning of the conference there were a couple of parents from the Cure SPG4 Foundation who talked about their kids who have the disorder. There was a slide show of the kids, who were at that ultra-adorable 4 or 5 year-old stage, one using a wheelchair and one a walker. It was the usual piffle from the parents about how little Johnny is super-confident, nothing gets him down; Edwina does everything her brothers and sisters do, always a smile on Edwina’s face, blah blah blah. I felt like screaming “Your kids are toast!” the whole time, and when they talked about looking forward to a cure for SPG-4, I compassionately informed them (from my muted screen) that their kids were “dead meat.” Yes, I’m really feeling quite neighborly today.
When Sarah was 5ish, we hoped for a cure too. We didn’t know she had SPG4 specifically back then but we hoped that some medication or therapy would get her walking and/or talking. It was almost impossible to imagine then that she could be 10 or 15 and still significantly disabled. I hoped for deep-brain stimulation to be an answer or some sort of scenario like in the movie Lorenzo’s Oil. I’m certainly not in the position of the dad, Augusto Odone, in that movie, earning an honorary scientific doctorate for helping to track down answers to adrenoleukodystrophy. I was really pushed to my limits trying to understand some of the speakers at the SPG-4 symposium and their talk of missense mutations, microtubules, AAV9 vectors, and so forth.
What I can glean is that Sarah had a gene mutation known as a “missense mutation” which means a substitution of one amino acid for another in all her cells. She didn’t inherit it from us, it was brand new. (Another example of a missense mutation is sickle cell anemia disease). This mutation was present in all her cells and altered the function of a protein coding gene called Spast. This gene provides instructions for producing a protein called spastin that is found throughout the body, particularly in certain nerve cells (neurons). “The spastin protein plays a role in the function of microtubules, which are rigid, hollow fibers that make up the cell’s structural framework (the cytoskeleton). Microtubules are also involved in transporting cell compartments (organelles) and facilitating cell division. Spastin likely helps regulate microtubule length and disassemble microtubule structures when they are no longer needed.” (National Library of Medicine).
That’s where I start to drift off. (Part of me feels like, Go Sarah! That’s my creative girl! You arrange your genes exactly like you want them! Subsitute those amino acids!).
The presentations I listened to included the longitudinal study from Boston Children’s Hospital that Sarah was enrolled in at the time of her death that included all the early onset, complex SPG4 kids they could find world-wide. They apparently have 496 as of the date of the presentation last April. There were also reports on the “mouse models” and so forth they are doing to work toward cures.
I wish I could say I listened to the presentations with a glad and thankful heart for all science was doing for my deceased daughter’s rare condition. I did not. I listened and my overwhelming thought was “What about Sarah? When are you going to talk about Sarah?” Which of course would not be appropriate in any case, not to mention the fact that this conference took place last April when she was still alive.
I’m just feeling pretty bleak and cruddy.
The First Year Without Sarah 