Redefining MommyhoodJourney of a mom whose son is overcoming hypotonia

We went for our second follow-up with the neurologist this week. I swear, their follow-ups are how they make a profit. We actually saw the neurologist this time instead of the nurse. He didn’t have any new information for us, of course.

The doctor told us that he wants to repeat the brain MRI in one year even though it came back “normal”. He said that Luke’s white matter isn’t as broad as it should be. He said this could be a “chicken or the egg” dilemma though. Since Luke’s gross motor skills aren’t where they should be for his age, his white matter is going to reflect that. I’m guessing that if you compared Luke’s MRI to one of a normally developing 9 or 10 month old, the white matter would be similar. I am really on the fence about repeating it for a few reasons. I don’t want Luke to have to go through the traumatic experience again. It was also disturbing to us as parents to see him scared, then 2 seconds later go completely limp from the anesthesia. Another thing to consider is the fact that we will have to pay out another $1000 deductible. I would definitely not think twice about paying out the money if I knew for certain that the procedure was critical for more answers. We are going to wait and see what happens. As long as Luke is continuing to make progress with his physical therapy, then we are going to hold off.

The neurologist also said there are a few other tests to perform that weren’t already done with the bloodwork that Luke had done while he was under. There are 2 blood tests that check for other kinds of dystrophies. They can also do a muscle biopsy to check for other genetic muscle conditions. There are no cures or treatments other than physical therapy for any of these outcomes. Again, we are going to wait another 6 months to do any additional blood tests or biopsies.

I also asked the doc if he had patients in the past with hypotonia who had all of the testing done, but found no cause. He said “yes”. Well, that doesn’t really make me want to do them either.

Does anyone out there have any experience with all of these crazy tests? I feel like my son is a pin cushion and a guinea pig! I just want to leave the poor boy alone for awhile and let him have fun. Maybe then he will feel more compelled to be “normal”!!!

One of the main reasons I wanted to start this blog is to share my experience with my son’s hypotonia, also known as low muscle tone.

He is a normal boy in every way except that he is 20 months old and is not yet walking. He can stand along tables etc when he wants to get at something. He just starting getting into a sitting position on his own in June (from laying down), and he just started to crawl about 2 weeks ago. His primary form of transportation since December has been “butt scooting.”

Luke has been in physical therapy through early intervention since May of this year. He has progressed quite well. His therapist is happy that he met her 6 month goals in only 3 months!

He has also been through various tests to rule out causes for the hypotonia. He has had an MRI done of the brain and lower spine, both were normal. He also had extensive bloodwork done to rule out metabolic disorders and genetic conditions. The only thing that showed up was a vitamin B12 deficiency, which may or may not cause hypotonia. He is taking a B12 supplement just in case. A trip to the orthopedic surgeon also ruled out anything wrong w/ his legs or hips. They did a hip xray to be certain.

I guess our only “diagnosis” from a doctor is hypotonia which really isn’t a diagnosis at all. My diagnosis is a subborn boy who will do things in his own time, no matter how frustrating it is for all involved:)

Phew!!! Ok, now that I’ve filled everyone one in on Luke’s medical background, it’s time to move on. He is still a normal (whatever that really means) toddler with the same issues etc. as others.