MOSAIC MOMENTS

Yesterday, I explained the genetics of mosaic Down syndrome. I have found that there is a lot of confusion surrounding how to get a diagnosis of mDs. Some of the explanations, mainly from medical professionals, totally floor me!

I have heard from some medical professionals that it is impossible to diagnose mosaic Down syndrome because they would have to take samples from the brain, the heart, the bone marrow and every other organ in the body.

This is FALSE!

I have heard stories from parents that said they didn’t know their child had mosaic Down syndrome because they were told their child had Trisomy 21 Down syndrome. And, there are many reasons for this to happen.

1. The karyotpye said that the child had mosaic Down syndrome, but the doctor felt that this was not important information to pass along.

2. The karyotpe said “low levels of mosaicism” or “can not rule out mosaicism” and the doctor felt that additional tests were not necessary for whatever reason.

3. Not enough cells were tested during the karyotype.

In a study conducted by International Mosaic Down Syndrome Association, we asked 75 families about how they received their diagnosis for their child with mosaic Down syndrome. Of the 75 families, 15% of the families first received the diagnosis of Trisomy 21 Down syndrome, then after further testing, they found out that their child has mosaic Down syndrome. 15% is quite a significant difference when it comes to a misdiagnosis.

Tomorrow, I am going to explain further about the tests and what you can do if you suspect your child has mosaic Down syndrome.