MOSAIC MOMENTS

The average age for a person with mosaic Down syndrome to be diagnosed is 1-4 years of age. The main reason for this delay in diagnosis is the lack of physical characteristics associated with Down syndrome. The other reason is the lack of knowledge in the average medical professional on this rare form of Down syndrome.

As I have stated before, Tim was diagnosed with MDS when he was 2 1/2 years old. This was a very difficult time for us, not because of the diagnosis, but because of the delay in the diagnosis. If Tim had been diagnosed as a baby, he would have had the early intervention needed to help him with his development. Also, his medical conditions would have been better understood and perhaps not as stressful during those first two years.

Tim did have slight facial characteristics, and was delayed (compared to those without extra chromosomes) in his development. But, because of the lack of information on mosaic Down syndrome, his doctors were baffled and didn’t know why he was delayed and had these slight characteristics.

In the 1980’s the Health Care Guidelines for Down syndrome were not available to us, (if they were, we didn’t know about them) so other than checking for heart conditions and loss of hearing, we really didn’t know much about the health risks associated with Down syndrome. It was much later that we discovered that Tim had a thyroid condition and that it was associated with his extra chromosomes. However, if we had been aware of this possible condition, we could have checked it much earlier and he wouldn’t have had all the health problems he had from it.

It is widely known that there are many individuals with mosaic Down syndrome who go throughout their lives not knowing about this diagnosis. “How can that be?” many ask. The answer depends on each individual.

Perhaps they were slightly delayed and had some trouble in school, but nothing so noteworthy that struck red flags in those around them.

Or, maybe they did have severe delays, but the reason for the delays was never known.

Then, there are some whose extra chromosomes do not find their way in the body to affect development and maybe they have some health problems, but no one associates it with Down syndrome.

The most disheartening to me are those who go undiagnosed and are unaware of the health checkups needed to keep them healthy.

Tim was born with a thyroid condition called hypothyroidism. This went undetected until he was 12 years old. During this time, his growth was so painstakingly slow that he didn’t even make it on the Down syndrome growth chart. He went three full years without any growth at all and at 10 yrs old he weighed 37 pounds and was 37 inches tall. We joked that he was square because of the measurments, but really, it wasn’t a joking matter.

Tim is now healthy and takes a pill daily to keep his thyroid in check. It was as simple as one pill! However, if it were not for that pill, it is likely that Tim would not have survived.

I worry about those who are not diagnosed because with a proper diagnosis, they would automatically have the annual checkups needed to stay healthy. That is why one of our missions at IMDSA is to educate the medical community on how to diagnose MDS.

Tomorrow, I will talk about how this diagnosis is done and why people diagnosed with Trisomy 21 Down syndrome are being misdiagnosed.

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