But the other day I saw a Google search that made my heart go out. Someone, most likely a woman who just received a prenatal diagnosis of Down syndrome, searched for "What is the worst Downs Syndrome that a fetus can be diagnosed with?" It stopped me in my tracks.
Every child with Down syndrome is unique. Yes, most of the Ds population has similar characteristics, but there is no universal make and model. There is a spectrum of ability in the Down syndrome population, just as there is a spectrum of ability in the typically developing population. The range of abilities and interests, challenges and gifts is just as broad as any other population subset. There is no "worst Down syndrome". A person either has it, or they don't. Medically, there are no "levels" of Down syndrome. Genetic testing does not tell an expecting parent if the child will have an infectious giggle, a stubborn streak, a terrific memory, or a taste for Macaroni and Cheese. It doesn't reveal if the child will get ear infections or have perfect pitch. Testing doesn't tell if a child will be able to live independently or drive a car. All it does is tell you there is extra genetic material.
I like to think that the extra chromosome makes people with Down syndrome more essentially human than those of us with an average chromosome count. There are difficulties to be sure, but there also is an amazing ability to live in the present. To cut through all the societal strata. To live simply and enjoy being alive.
I'm not going to try to sell you on all the good points, because I think that it sounds empty to someone who is just starting out. Every parent discovers their own silver lining as they uncover the secrets that hide in the extra chromosome. Yes, there are some really good parts of having a child with Down syndrome. And yes, there are some really lousy parts of having a child with Down syndrome. But I think that goes for having any kid.
Genetically/medically, there are three kinds of Down syndrome.
Trisomy 21: This is the most common form of Down syndrome, making up between 90-95% of all cases of Ds. This is when there is an entire extra copy of the 21st chromosome, giving an individual a total of 47 chromosomes instead of the usual 46. Many people like to use the medical terminology shortcut of "T21", as it is more precise than Down syndrome (sort of like using the correct terminology of ALS instead of saying "Lou Gehrig's Disease"). The extra 21st chromosome is present in the egg (usually), or sperm (occasionally) before fertilization occurs.
Mosaicism is hard to get your mind around, but the easy way to think about it is sort of like a grafted tree. My aunt once had an orange tree that had lime and lemon branches grafted to it. Three fruits, one tree. Where the lime branch was attached, all further branches and sprouts were Lime. The trunk of the tree was genetically Orange. In Mosaic Ds, a lot depends on where and when the hiccup in cell division occurs. If it happens early after fertilization, most cells will have 47 chromosomes. If it happens further along in the zygote or fetal development, all cells that stem from the trisomic cell will be trisomic. That means an individual could have very few cells with 47 chromosomes, or they could have lots and lots. There could be lots of branches with oranges and a few limes and lemons, or, it could turn out to be the other way around. There is no way of telling.
All that genetics stuff boils down to pretty much everyone being in the same pot. If you pull out the very small population with Mosaic Down syndrome who have little or no effect from the over expression of the 21st chromosome, then you are left with about 98-99% of individuals with Down syndrome who fall into the category of mild-to-moderate cognitive impairment. The range of abilities within this category is varied. Most individuals with Down syndrome learn to read and write. Many are able to live independently or semi-independently (this means with some sort of help--perhaps with budgeting or grocery shopping--math seems to be a challenge to many with Ds). All are able to have meaningful relationships with their families and friends. All are able to contribute to the world.
I hear from many parents of young children with Down syndrome. Over and over again they say: If I knew then what I know now, I would not have cried a single tear.
Don't stop searching for answers. Keep on asking the questions. Be brave. Talk to that friend-of-a-cousin who has a sister-in-law with Down syndrome. Email me. Call your local Down syndrome association. We're not afraid of the tough questions. We know what it's like. We've been where you are.
If you have a prenatal diagnosis of Down syndrome, please visit this new website: