Genetics

For those of you who need to know, I am recovering from the recent stomach flu, I still cannot eat and have bad stomach cramps. I am also wiped out physically and want to stay in bed all day. The boys have a TWO HOUR DELAY! ACK! HELP ME!!! Ok, it is out of my system. I will survive...

Yesterday we saw the Genetics doctor who specializes in metabolic disorders. She took one look at Bug Boy (his hair, his mole, his stature, his hand and foot shape) and had plenty to say. There are some things they are going to look at, due to a number of physical genetic flags, but the gist is that they still really do not know for sure. The boys most likely have a metabolic disorder that involves how they metabolize and store (or lack thereof) certain things. They have the most trouble with sugars and fats, lactose and fructose being two of the culprits.

This is not typically a fatal thing. There are types of these disorders that children do not survive due to failure to thrive and genetic defects. Bugaboo and Bug Boy have always been 75% and up for weight. This is clearly not their issue. But they do have a tendency to break down fatty acids and sugars and instead of storing them, they float around and end up being soaked into places they should not. Like their brains and muscles, who have no use for them but cannot get rid of them. Therefore, the boys have side effects: muscles cramping (too much lactic acid); headaches and seizures (from storage of things that do not belong in the brain); frequent urination and constant thirst (from the blood sugar imbalance, most likely hypoglycemia); problems regulating body temperature and profuse sweating (and the body odor and pimples, yes pimples! That go along with it.). The biggest thing is that Bug Boy (and now Bugaboo is developing it) is the muscle cramping. My kids cannot tolerate exercise. It may be why their weight is 50-75% but they are still healthy. The doc feels that they'd be horribly skinny if they didn't have the intolerance problem. Basically the boys muscles will cramp up after 1/2 a block of walking or riding on a flat surface. They simply cannot continue. It hurts! This is NOT normal for a little boy.

Long term the prognosis is good. The good news is that they are catching these things earlier, as they typically do not manifest until preteen to teenage years and beyond. By then the majority of the treatments are no good and they go on to develop kidney and liver problems, hypoglycemia and diabetes, hypertension and heart muscle problems, the list goes on. With the boys being so young there is much they can do. Some treatment may involve a monthly IV treatment, similar to what they do for rheumatoid arthritis. Some treatments use medications, although the boys most likely will not respond.

The doctor knows Bug Boy has this. She is not sure about Bugaboo because he is nonverbal and cannot relate some of the symptoms. At the moment we are assuming he has it and are proceeding with the tests to diagnose it. Since it is usually developed when children are older, it is possible that he will develop it full-blown by the time he is high school age.

The perplexing thing is that children with these conditions, while they develop delays due to illness, RARELY, if ever, have autism at the same time. This is not the first doctor who has told me that they do not believe that Bugaboo has autism. Just about every specialist has. But I am convinced he does. Am I a bad mommy for thinking that? I mean, I believe that the name doesn't matter as much as the therapy. But the name is necessary right now in order to get the therapy. The therapy is helping. If it ain't broke, don't fix it. We see the Developmental pediatrician again in March. We shall see. She already thinks that ADHD combined with a developmental delay due to chronic ear infections and sensory disorder is his main problem. He just exhibits these other tendencies. She also thinks he has aphasia, an inability to get your brain and mouth to coordinate in order to talk. But if that were true, they feel he'd be able to sign! He hasn't shown much interest in learning.

The best part of all of this? Late talkers and similar developmental delays run in the family on both sides. The genetic disorder could be passed on through the mother so there is a very good chance that some of my nephews (one in particular) has it. The metabolic issue is most certainly from Darling, or he has it and I am a carrier. The doctor showed me the nifty chart she made explaining my family tree and who has what, and where things most likely come from. Rather fascinating, this genetics stuff.