Welcome back to the Blog! The last couple weeks have been really busy. We had a friend stay with us for a month, then we went to NYC to celebrate my birthday (The big 4) and for Zoé to visit her family, Grammy Gina and Aunt Wendy, while we enjoyed 3 days away in DC and Virginia.
We got back last Monday and on Friday, March 23rd we went to see Dr. D ( I will keep his name out, just for the sake of privacy) , the neurologist at Stanford. I was eagerly waiting to meet him, having seen him once before, I knew he would answer a lot of questions and fill the void of things I still don't know and may need to learn about.
The appointment lasted 2 hours. We first met Jennifer from the MDA who came to remind us of the MDA support group and the low attendance at the caregivers group. I am one of them, but it is true I never really take the time to go and share my daily strife.
Time is precious and while spending more time and dealing with Zoé's needs seems more important I tend to forget my own.
Any way, after Jennifer we met a Physical Therapist, who had Zoé back in her braces and thinks she looks good in them and that she should wear them more consistently.
So back in AFO mode, though we'll see, he told me to monitor the falls.
He thinks that her braces decrease her catching of the feet, it also decreases her hyperextension of the knee. By doing so she increases her lordosis (Curving of the back) and her shifting of the body to the right.
He thinks that with her AFOs she will benefit from avoiding falls.
We also talked about theratogs, and how they might be beneficial to strengthen core.
He also wants me to massage Zoé's feet, working on ankle dorsiflexion, bringing the foot up at 90 degree, because Zoé's feet are really tight.
Then we met an OT, who gave me some pointers regarding naps that Zoé doesn't take anymore. Quiet time is essential. She mentioned how using a timer can be a good idea. Zoé cannot debate with a timer! The same way she might debate with me.
Structuring quiet time in her overload of therapies and activities is essential. We'll work on it.
After the PT and OT recommendations came Dr. John D., who is awesome. I truly have not met such an amazing, caring, understanding doctor, and god knows how many I have seen in the last 4 years. He was not full of himself, but genuinely human.
I started discussing all the bullet points David and I had worked on the night before.
Mentioning my biggest concern about Zoé's social skills and how "inept" she is. Her inadequacies in the social sphere. It might seem pretty harsh to you, but Zoé doesn't know names of kids in her class. I see it every week when I teach my little French circle time at her preschool, when she does "Show and Tell" and has to call on kids who have their hands up, she never knows their names. Some of these kids she's known for almost 2 years.
Her indifference to kids, her lack of greetings when kids say hi, or bye, etc.
This is when the bombshell fell, as Dr. D. explained things about Myotonic Dystrophy. He actually said it was two diseases in one.
1) a developmental Disorder: where things are not put in the right place, things are simply not 100% right. MMD type 1 is on the ASD: Autism Spectrum Disorder. Doctor D. did mention how it is a very complex situation.
2) a Degenerative Disorder: when physically things fall apart.
He told me that for Zoé he was more concerned about her developmental issues. Cognition is affected by muscles. Something I had never really thought of before. But Zoé's facial configuration, her difficulty with speech, the fact the she "looks different" affects how she is with others. Kids get these things, they see her as different and they behave with her in a different way. However, he said that developmentally she will get better in time, and it will stabilize when she reaches maturity.
Then, that's when physically, things will start falling apart, it will come later in age. The same way it is affecting me, on a slow downhill.
I have more of the myotonia, the fact that when I contract a muscle, it takes a while to loosen up. Zoé is now complaining of neck and back pain. That makes me so sad to think of her later on, once the myotonia kicks in. Even though I cry about it, I have to keep my chin up, and run away with my pain. I cannot let it get to me.
I think the ASD bombshell hasn't hit home yet. The positive note, if one can think of it this way is that there is a lot of money involved in Autism and so he thinks that Zoé will benefit from the services in place for autistic care. He thinks she needs to be part of more structured social interactions, so she can be "trained" for more effective behavior with other kids.We can teach her through coordinating social settings. To identify ways of helping her. Again he did mention how Zoé is at the mild end of the spectrum and that given that fact, she can still take advantage of the tools provided by the system.
So what does the future look like?
She will from now on be seen by a behavioral doctor at Stanford, it will be part of her overall care. She will soon be assessed and of course, I will fill you in once we go for the test. (On an interesting note, I called a behavioral specialist in Berkeley to see if she could assess Zoé, having been given a referral by my pediatrician. The behavioral specialist secretary called me to let me know that since Zoé was only 4 they would apply their cheap rate of $900 without taking insurance!)
Some of Zoé's problems are inevitable, her speech is impaired by her lack of lip closure, the fact that she doesn't smile, she makes an over exaggerated laugh, etc. all these change her appearance and we need to set her in structured social interactions to help her look beyond that initial reaction that other kids may have.
We cannot make these muscles stronger, so we need to transcend other people's reactions. Once these muscles are gone, it is over.
For Zoé, her behavioral pattern could be an innate choice: to wander off, to be in her own world, etc. We need to use the autism approach and mildly use the method therapists will put into place.
Dr. D. asked me how Zoé's sleep was and I did mention that she used to wake up several times a night and wander into our room for absolutely no reason. He mentioned that these events were called "micro awakenings", that the REM sleep indicates what the problem is. A lot of people affected with MMD tend to take stimulant medication to stay cognitively aware, to stay acute cognitively during the day. We need to keep that in mind and we might have to check on Zoé for a sleep evaluation.
We then mentioned a few issues regarding my health and how sometimes I choke on food, that is due to the weakening of the pharynx, regurgitation is hampered, we tend to have acid reflux, which I don't have!
I do have problems of aspiration at night, when saliva seems to be going down the wrong pipe, he suggests putting a wedge under our mattress.
As far as constipation, GI (Gastro intestinal) pain, the stomach is made of smooth muscles and our bowel might be very dilated. It looks like pseudo obstruction due to the fact that one area doesn't work.
Weakness can sometimes go into complete paralysis but it can come back.
He said how important it is to mention to any one that we have motility problems with MMD. The danger is that one can end up in the ER (Emergency Room) for acute pain, which was my case once in NYC. I thought I was literally going to die from the pain. Some doctors might take an XRay and notice the enlarged bowel and want to do surgical emergency procedure and might cut something that shouldn't be touched.
As far as Zoé's neck and back pain, he doesn't think that the myotonia is there yet, but that we should try to move those muscles to loosen them.
Though I have it for sure, my hands go into complete cramping and I have to move the hands to loosen the stiffness, to do more muscle activity is important to relax the muscle.
Regarding my "Poop Battle", he mentioned that getting bowel more active and softened might help Zoé. The abdominal wall is weak hence our problems with constipation.
Heart: have an EKG test done every year to see the progression of change. A Holter monitor (The one we have on for 24 hours) every other year.
The real eye-opener was the question of repeats of the "bad gene sequence" on chromosome 19, that number means nothing!
There is no accurate number because it is found from a blood test, and the gel that they use to see the number has a smear so the lab just gets a number that can vary tenfold at times.
Zoé has 850 repeats
I have 135, my youngest brother has 600, my father had 59, other family members have 61, 62 and 150. We are basically a hodge-podge of numbers that mean nothing!
That was the last positive note on this long description of information.
Dr. D. finished our visit by mentioning that exercise is key. Keep those muscles working.
He checked my left foot and discovered how I had lost those muscles. He mentioned that if I wanted to use ankle foot orthotics and if they enabled me to do more, I should consider a pair.
I am not there yet, and I will keep my regimen of sport including: yoga and walking.
I walked around the lake twice today: 10 to 11 kilometers, making a muscle every step of the way...
Hope this wasn't too tedious a read.
Have a great week!
