Well…we heard back from the Rare Genomes Project. After the six months it took to sequence Marks, Emma’s and My DNA, the analysis phase was finally complete. I saw the name pop up on my phone and had the “this is it” feeling. I had been waiting for the call for weeks and it was finally time to learn the culprit of what has caused Infantile Spasms to occur twice in our family…because they were obviously going to find the culprit, it must be so easy now that we have two cases…right??
Wrong! “There is no smoking gun”, were our case managers words. Shock…I think even she was a little shocked. I had fully expected Whole Genome to reveal a result, but instead its proving that the world of genetics is way more complicated than my binary-minded brain can grasp. So we keep searching....
We had originally avoided poking Abby because the research study believed they could likely find a result without her DNA sample. But we have now submitted Abby’s blood in hopes that when comparing it to Emma’s, it will be the missing piece of the puzzle. Thankfully she did great with the blood draw and we got enough to submit it to the Rare Genomes Research study AND to the clinical Whole Genome Sequencing being done by the geneticists at Children’s Hospital. The down side is that we have to wait another 6-ish months for Abby’s DNA to be sequenced before they can analyze it and compare it to Emma’s, Marks and Mine. So all things genetics are just a waiting game for the time being. Pray for my sanity as I’m so determined to have a cause…something to point to and lay blame. Something to use as a starting point for more research. Something to pester scientists into studying and finding a cure. We will get there, but man I wish science would catch up with our kiddos!
On another note…Abby (or little miss Shenanigans, like her St. Paddys Day onsie said) took us for a fun little loop on the Gillaspie Roller Coaster. After almost 3 months Spasm free, she relapsed. I saw very subtle eye movements, something I could only discern from having witnessed thousands of spasms before. I emailed a video to our Epileptologist who replied that she wasn’t concerned, it didn’t look like typical spasms to her. (They may not have looked like typical spasms, but to me they were definitely the Emma/Abby flavor of spasms). But I held on to that reassurance and went back to the “I’m just paranoid” mindset. The next day I saw them again, a little more obvious to the point that once I pointed them out to my mom she was able to see what I was talking about. So I sent over more videos to our doctor. At this point she called me to tell me she still didn’t see anything too concerning, but (being the AMAZING human that she is) would order an EEG just to be safe. And thankfully she did. By the time we got to the EEG these movements were happening frequently and there was not a doubt in my mind what they were.
Sure enough, Spasms and Hyps were back on the EEG. Crap. I had ALMOST allowed myself to believe we had beat them, that this time they wouldn’t be coming back. I should have known better. We immediately started a second round of ACTH which we are now almost done weaning. Abby had her follow up EEG this past Tuesday and…DRUMROLL PLEASE…it was “a thousand” times better than it had been before. “A thousand”, that was our doctors words. Spasms were gone, Hyps were gone, Sleep structures were present and well organized, and while normally there is some residual spiking and discharges, this EEG only showed two which our doctor was hesitant to even call spikes. So YAY!!!! We are back to a good place EEG-wise, though Abby is still pretty out of it recovering from the Hell that is ACTH Steroid treatment. I have no doubt she will come back to us though, and I’m over the moon excited for another good EEG.
I am learning to take the good moments and really celebrate them, allow myself to be happy without immediately moving on to the next thing to worry about. But realistically we do have to face the next worry, which is now how do we keep these awful spasms away. After doing some research, I posed the question to our doctor about keeping Abby on a low dose steroid long term. She has responded so well to them, she just relapses when treatment is over. Our doctor didn’t like the side effects likely to occur with that idea, but she gave an alternative. Pulse Steroids. Once a month Abby with have a few days of high dose steroids with the hope of keeping spasms away for longer (or forever if I could have it my way). Studies have shown really good response to this treatment in LGS, we are hopeful it will work well for Infantile Spasms as well.