First and foremost, we are tentatively scheduled to leave to head back to Minnesota on July 25th. Armand will then undergo another series of tests to set baselines for the AIM therapy that he has been approved to start. I say approved meaning the doctors (geneticist Dr. Whitley, and pharmacologist Dr. Utz) want to do the therapy, they believe he is a good candidate: Lindy and I are still both in the dark concerning insurance coverage. A small light of hope concerning this therapy is that it has actually been proven to work, not only slowing progression, but reversing its effects.
A study was done at a center in Bethesda, MD, with a 16-year-old boy who also had GM1. He had the same version that Armand has, Type II or juvenile, but a milder version of it (Armand would not be expected to live to see 16). However, his progression was much worse than Armand’s — he had lost all speech capabilities and was confined to a wheelchair. After nearly 3 years of therapy using miglustat, the boy now has nearly full speech capabilities, and can walk with some help. His speech is still somewhat affected due to neurological damage, akin to what a stroke victim would experience; and due to being in a wheelchair, his hips are misaligned making walking tough. Because Armand has not progressed to that point, we are hopeful that he may be able to live somewhat normally for the near future, until a more permenant cure comes along. Now, on to other news:
(sidenote: Lindy and I no longer “attend” his therapy. We both go, but we don’t participate, nor are we even in the same room. This is to keep him from getting distracted, and help keep his focus. Both his physical and speech therapists have remarked on how well he has done with this.)
Armand started his official speech therapy about a month ago. We are working with him in using PECS (Picture Exchange Communication System), a program by which he begins to communicate his wants and needs by using pictures. Lindy and I will be building a book of laminated pictures, with which Armand is begnning to recognize and learn the associated words. He places the picture in our hand, at which time we use the phrase “I want (picture name here)”. For instance, if he wants a drink, he would hand us the picture of a sippy cup, at which time Lindy or I (or whomever is watching him) would say out loud “I want drink” with exaggerated movements to enhance the association. The theory is that once he learns to discriminate among pictures and their associated words, he would then begin to mimic the sounds. This would evolve into more specific requests: “I want juice”, “I want milk”, “I want whateveritusyourdrinkingdaddybecauseitsyoursandIfindthatinteresting”.
After a short time, his therapist has said he has picked up on the pattern, and has even begun to mimic both sounds (“meh” for “more”) and signs. She has said he has a higher level of babbling, showing he is attempting real communication not just ambient sounds, and that he is using hard consonants (“geh”, for instance) which is a good sign.
Also, yesterday we finally received his take-home walker. I haven’t gotten much chance to work on it with him, but it is similar to the one he’s been using during therapy. Much like the picture here, he pulls rather than pushes the walker, so that he doesn’t just use his weight to go forward, but he actually has to use some strength. The walker is also designed so that he won’t roll backwards, and won’t just “turn” on him — it’s locked for now to just go forward.
Lastly, Armand and I participated in a sleep study in early June. Couldn’t have been more proud of the way he handled himself. For those who have never been in a sleep study (and I would assume that’s nearly all of you), the nurses hook you up to quite a few wires: on your head, your face, your arms, your legs, and your chest. In addition, they hook a tube into your nose not unlike an oxygen tube — however, this take measurements, it does not circulate any air. All of these are either taped or glued on, and although there was some slight fussiness, he never attempted to pull out any of the wires, never cried, he mostly just sat and watched and occassionally fidgeted while they made him look like Neo when he first woke out of the Matrix. Ok, sorry, dork moment. Anyway, he slept like a champ that night (Daddy, not so much), and the tests showed nothing negative going on with his sleep habits.
This is a tougher part to write. There are some noticable changes for the worse. First of all, a chest x-ray he had back in January showed beginning signs of muscle-weakening in his ribs. I’m not sure how this particular issue with his ribs will affect him, but it is a sign that his hypotonia is getting worse, that his disorder is progressing. We do have some exercises we can do with him, hopefully they may strengthen him a bit. Moreso, it’s simply a punch in the face that we are running out of time.
Another of the battery of tests that he had this winter was a vision test to check on the muscle strength in his eyes. Well, more recently, we have noticed that one of his eyes occassionally will go cross, yet another sign of his hypotonia. We’re not sure how it affects him visually, because he doesn’t seem to show signs of noticing; he just continues on like normal. It’s not an “all-the-time” thing, seems to happen more when he’s tired.
He’s a biter. Holy cow he’s a biter — the boy left a tiny-teeth-mark bruise on my chest for a week, and apparently has nearly broken skin on Lindy. He also sometimes tries to nibble on his hearing aids, and we believe that one is now malfunctioning. He bites shirts, blankies, his feet — and yet oddly, he doesn’t seem to eat much at mealtime.
Armand and his mommy were briefly featured on the local news a few weeks ago. Some friends through a day-in-the-park BBQ bash that doubled as a fundraiser, and also got in touch with the local Fox/NBC news team, who sent a cameraman out. A link to the story on their website is here. Also wanted to give a quick public thank you to Elton Mack, Tony DeSaro, and the rest of the crew for putting on the event. It was also the first time he got to see his Daddy be a DJ, which was pretty cool for me.
There have been a few other fundraisers, with more to come. I’m also still working on one sizeable day-long fundraiser working with various restaraunts and businesses. I will share more on this as plans become more permenant, including dates/times, etc.
Due to some help from my brother Jon and my father, Armand was able to attend his first Yankees game this summer, watching our boys beat up on the Reds. The seats were perfect for him, front row of the section we were in but with a fence in front of us. He even cheered a bit when Jorge Posada homered. Had a DaddyFail moment when I couldn’t get an autograph for him, still gonna try to work on that somehow.
Just going to share that Armand now loves swimming this summer. Last year he enjoyed wandering near the pool, but was not up for getting in. Now he has a blast splashing and kicking and people watching and lifting his shirt so I can blow on his belly. Should be a great couple more months.
Final note is that we have a new design in the Armand’s Hope cafepress shop. The inspiration behind the design should be obvious. Please don’t sue.