Repercussions of Malignant Hyperthermia

In my last post I discussed Malignant Hyperthermia (MH) and how it pertains to my son and daughter.

Now I'll explain how it may be affecting Lily (besides that she may have inherited the MH gene).

Lily was a healthy size baby - 8+ pounds, born January 09. She did have more than the average problems breast feeding, and so was given a bottle. Usually babies double their weight by their fourth month; Lily was around 16 lbs at a year old.

She wasn't hitting any of the milestones of crawling or pulling herself up on furniture, etc.  When we all got together for Christmas, my sister was the first to notice that something was wrong when she held Lily.

"Don't you notice that Lily kind of flops around when you pick her up? That she doesn't hold herself up?" She asked.


Jessica noticed the difference with her cousin's babies who were all near to Lily's age. Previously, when Jessica had mentioned the lack of Lily's mobility to her pediatrician, the doctor said, "Oh, don't worry, she'll get there." The doctor kept saying that. I felt she was wrong. Jessica agreed. So she switched doctors.

The new pediatrician examined Lily and saw some issues right away. She recommended that Jessica take Lily to Easter Seals for evaluation. After many interviews, evaluations and home visits, they concluded that Lily had a condition called "slip-through", where the baby feels like they would "slip-through" your hands when you pick them up. They also said that Lily had low muscle tone throughout her WHOLE body; including her jaw and tongue. This is why she had problems eating, especially solid foods. She would choke quite often. They recommended that Lily get physical therapy and speech therapy several times a month. (Lily is currently getting therapy through a state-run program.)

Lily began walking at 22 months and now she runs around the house. She has to wear teeny tiny braces on her feet that fit into her special shoes (they look like gym shoes).

Another concern about Lily is her size. She is very small and doesn't seem to be growing very much. She still wears a size 18 month size pants and she is now 29 months old. She weighs 24 pounds. She is very short. Jessica and Dave took her to a geneticist. After taking an in-depth history from both of them, Jessica just happened to mention that she had MH.

The doctor really jumped on that. He said that the problems Lily is experiencing could be a form of MH, and what is called Central Core Disease. He said that she definitely has Hypotonia, another name for low muscle tone in the body, but that disease has a wide spectrum of problems from minimal to severe. Luckily Lily is on the low end.

She has a problem with her vision; one eye or the other will wander. When that happens the straight eye will compensate and the brain will shut off the vision from the wandering eye. For now Jessica and Dave have to try and put an eye patch on each of Lily's eyes (alternating days) for 2 hrs/day, for two months. If this doesn't help strengthen the muscles in the eyes, then surgery will be necessary.

Of course, we need to know if Lily has MH before any surgery is done.

And thus, we want Jessica to have the marker in her blood.

Kids with hypotonia tend to sit back and observe what's happening; they know their limitations. We've seen this happen with Lily. But where she may fall behind physically, she is WAY ahead cognitively.

Lily has an upcoming visit with an endocrinologist to see if there is any issues with her growth. The geneticist didn't find anything in the chromosomal study.

It's pretty sad that Lily is so used to going to the doctors that she thinks that's the only place they ever go.

"Come on, Lily, let's go," Jess will say to her, getting her ready to go to the store, the library, or wherever.

Lily will reply, "Doctor?"

Luckily, the majority of doctors have been extremely nice to Lily.

Remember George?

Lily takes him EVERYWHERE, especially to the doctors. And the doctors ALWAYS examine George FIRST, looking into his eyes, listening to his heart, etc. It is wonderful how they take the time to do this.

And so, that is the story behind my Lovely Little Lily, who will always have a special place in my heart.