I’ll try to make this short. Here are eight facts:
- Although we do not have actual statistics, a significant number of children and adults with MECP2 Duplication Syndrome have been tested and found to have abnormally low levels of vitamin D.
- The reason or reasons for this are not well understood. Limited exposure to sunlight, some medications (e.g., anticonvulsants) can lower levels of Vitamin D), dietary issues may play a role.
- Low bone density (including osteopenia and osteoporosis) low-energy fractures, and skeletal deformities have been reported frequently among individuals with MECP2 duplication.
- Individuals with MECP2 duplication typically have increased frequency of respiratory infections.
- While at least some factors that contribute to this increased risk are well known (e.g., weak immune response, aspiration) are will known, this increased risk appears to be the result of multiple interacting factors.
- A large body of research suggests that Vitamin D deficiency plays a role in lowering resistance to respiratory infections.
- This research DOES NOT provide evidence that supplementing vitamin D beyond recommended levels is helpful.
- Too much Vitamin D is not helpful and can be toxic.
Most of these facts have been well known for many years.
CONCLUSION: Considering these facts, families may want to ask their child’s doctor about checking vitamin levels, and supplementing if needed. Continue reading
Way back in December 2012, I posted Bone Density, Osteopenia, Osteoporosis, and Fractures: Part 1. I never got around to posting Part 2 because I was hoping that some more relevant information would come forward. It hasn’t. Nevertheless, I am posting Part 2 now, even if it doesn’t add a lot of new information to the discussion, because I think it is an important topic. It is important because low bone density is a problem for many individuals with MECP2 Duplication syndrome, this problem often remains hidden until it manifests in fractures or other serious problems, and it is basically irreversible.
This figure indicates some Continue reading
Do the pieces of the puzzle fit?
Here are some known facts:
1. MECP2 Duplication Syndrome results in deficient interferon gamma that produces poor resistance to certain kinds of infection.
2. Individuals with MECP2 Duplication Syndrome often develop osteoporosis.
3. Individuals with MECP2 Duplication Syndrome are at risk for bone fractures.
4. Interferon Gamma plays a significant role in the formation and maintenance of bones.
SO, it seems likely that the low levels of interferon gamma might be responsible for low bone density and frequent fractures in individuals with MECP2 Duplication Syndrome. Continue reading
I need to start this post with a disclaimer. This post suggests that it may be worth asking your child’s doctor about checking Vitamin D levels if your child has MECP2 Duplication Syndrome. If there are signs of deficiency, it suggests discussing supplementation with the doctor. It is not intended to recommend supplementing vitamin D unless a deficiency is identified or without your child’s doctor’s approval, and it is not recommending excessive doses of vitamin D. Having said that, here are the reasons that checking might be worthwhile. Continue reading