On my post below, I received the following comment from a genetic counselor. I wanted to paste the entire comment, and then comment on it myself:
I have read all of the comments posted about this article so far. I have not read one from a genetic or obstetric professional perspective so I will add my 2 cents. I have been a genetic counselor for over 30 years and spent many of those years practicing prenatal genetic counseling. I have counseled hundreds of families about the pros and cons of having prenatal genetic screening and many of them when the results of the screening or testing indicated a fetal difference. In the genetics, we are frequently called upon to provide information and discussion of available options and to convey this information as non-judgementally as possible. We may have a personal opinion about the choices we are offering to patients but it is our job as professionals to not influence the patient with our own perspective. In fact, in professional genetic counseling there is an approach called nondirectional counseling. Genetic professionals focus their discussions in a way designed to not make recommendations. We offer options, we discuss the possible outcomes of each option and we support whatever decision the family chooses. In addition I have known and been involved with the care for many infants, children and adults with Down Syndrome. What has not been said here is that a significant proportion of Down Syndrome infants will have other serious health problems more frequently than individuals with a normal number of chromosomes, including but not limited to:
* Congenital heart disease requiring surgery
* Childhood leukemia requiring chemotherapy
* Hearing problems
* Intestinal problems, such as blocked small bowel or esophagus
* Celiac disease
* Eye problems, such as cataracts
* Thyroid dysfunction
* Skeletal problems
* Dementia—similar to Alzheimer’s and occuring earlier than in the genetal population
All of these problems are amenable to treatment but treatment for a child with mental deficiencies is difficult.
All that said, choosing whether or not to have a child with a chromosome or other abnormality that can be detected with simple screening early in pregnancy remains the mother’s decision. Knowing in advance that a child will have Down Syndrome also allows for the possibility of additional, usually imaging, procedures during the pregnancy to determine whther there are additonal concerns such as a heart defect. If such problems are identified before the child is born the outcome may be improved.
I have not received real genetic counselling, so I cannot address what a counselor does or does not do when meeting with a family. After the fact of DS16’s birth, our genetecist told us that he was “an accident,” which I found offensive, as there was definitely not a positive connotation. Not to mention, that goes directly against my theology that there ARE no accidents. My son was knitted in the womb, just as any child is, by the hands of a loving Father who has a wonderful plan for his life and the lives he touches.
My other experiences prenatally were with my pregnancies carrying DS11 and DD4. In both instances, we were encouraged to get an amnio pronto because there were risk factors present for Down syndrome. We had to hurry up because the clock was ticking on the timeframe during which we could terminate. And I might also mention that whenever I have declined the AFP test with any pregnancy, I have been pushed, prodded, and practically threatened for choosing not to have it. And then I had to sign a paper stating that it had been offered. A “cya” paper, I’m sure. So although it may be true that a genetic counselor should remain non-influential, I felt very much influenced and even pressured by ob/gyns to have testing done. And our actual genetic doctor, although she could do nothing to influence our decision since she came onto the scene after the fact of his birth, her words definitely had the power to influence how we viewed our son.
I specifically want to address this portion of the above comment:
What has not been said here is that a significant proportion of Down Syndrome infants will have other serious health problems more frequently than individuals with a normal number of chromosomes, including but not limited to:
* Congenital heart disease requiring surgery
* Childhood leukemia requiring chemotherapy
* Hearing problems
* Intestinal problems, such as blocked small bowel or esophagus
* Celiac disease
* Eye problems, such as cataracts
* Thyroid dysfunction
* Skeletal problems
* Dementia—similar to Alzheimer’s and occuring earlier than in the genetal population
All of these problems are amenable to treatment but treatment for a child with mental deficiencies is difficult.
Using the language “serious health problems” definitely raises red flags and alarms a pregnant mother. Also, not all of these occur in a “significant proportion” of people with Down syndrome. And could someone please explain to me what in the heck is meant by saying that treatment for a child with mental deficiencies is difficult??? Huh??? How is that any more difficult than for a typical child. My 16-year-old goes to the doctor just as easily as any other of my children. Only, he’s more friendly to the nursing staff.
- Congenital heart defects–Last I heard, this affects 40% of those born with Down syndrome. Heart defects certainly can be serious, but often they heal on their own. Surgery to repair a hole in the heart, for some reason, tends to be MORE successful on people with Down syndrome than on the general population.
- Childhood leukemia requiring chemotherapy–This is statistically a significantly higher risk than for the general population. One in every 95 children with Down syndrome develops leukemia, compared with one in every 2000 children without Down syndrome. Still, that is just over a 1% chance of the child with Down syndrome developing leukemia. And again, although not a disease any parent would choose for her child to have, it is often successfully treated.
- Hearing problems–I would not exactly call hearing problems a serious health problem. My grandmother, father, and mother all had hearing problems. My grandmother and mother got hearing aids. My dad either pretended to hear what people said or asked them to repeat themselves. It was hardly a “serious health problem.” An inconvenience, maybe. Hardly a reason to terminate a pregnancy.
- Intestinal problems, such as blocked small bowel or esophagus–I could not find a statistic for this. Over the last 16 years, I have met hundreds of people with Down syndrome. I know of one whose “innards” were reversed. It did not require any surgery, but he did need it noted on his medical charts in case he ever needed emergency surgery. (Wouldn’t want him opened up on the wrong side, or the wrong organ removed!!) Other than that, I cannot think of anyone I know of who has had a blocked small bowel or esophagus (both of which are serious, but correctable with surgery, I believe).
- Celiac disease–Celiac disease is more prevalent in the general population than people realize. We kill ourselves with the ridiculous number of grains we consume. Untreated celiac disease is serious. Know how to treat it? Stop eating wheat. The diet is inconvenient, but the disease is completely treatable if the diet is followed.
- Eye problems, such as cataracts–Seriously? Is this really listed as a serious health problem? Again, I have never heard of anyone with Down syndrome having cataracts. My dog has them, though.
- Thyroid dysfunction–Fifteen to twenty percent of people with Down syndrome have hypothyroidism. This is another totally treatable disorder. I can hardly imagine someone choosing to abort a baby because they might have thyroid issues down the road.
- Skeletal problems–The most common skeletal problems for a person with Down syndrome are kneecap subluxation (incomplete or partial dislocation), hip dislocation, and atlantoaxial instability.
- Dementia—similar to Alzheimer’s and occuring earlier than in the genetal population–Dementia and Alzheimer’s are frightening disorders. The connection between Down syndrome and Alzheimer’s are being studied. Hopefully this will help many individuals down the road–both with and without an extra chromosome.
If I compared the health of DS16 to his brothers and sister, he is probably my healthiest child. He never had tubes in his ears, he has never had asthma, he rarely gets colds. He did have surgery for reflux (and so did DS8), and he suffers from some kind of allergies, although we have never identified what causes him to react. His reflux is rarely an issue any more, and the allergies are managed with Claritin. I am not saying that it is always easy to have a child with Down syndrome, but having a child in general isn’t “easy.” Any person who plans to have a child needs to be prepared to be inconvenienced often! A parent should know that there are health risks and issues with almost any child.
Leticia, who also posted a comment on the same post makes an excellent point when she says that the approach of Lynn is cold and clinical. There are positives in the diagnosis of Down syndrome, but you don’t hear anything to that effect mentioned. If a genetic counselor (or perinatologist or ob/gyn or pediatrician) is going to list the many “problems” associated with having a child with Down syndrome, the good side needs to be mentioned as well. Do you think I see my son as only a list of problems? Certainly not!!! He is joyful. He is kind. He is intuitive. He is sensitive. He is outgoing and friendly. He does not accept societal stigmas, stereotypes, and rules–he follows his heart in reaching out to others, in seeing beyond the exterior into the heart of each person he knows. These are all things he has taught to me and to my family and to his friends. Does anyone tell a parent-to-be that her child with an extra chromosome will be a teacher and a leader? No. They are told of the health problems and the inconveniences they are likely to experience because of their child, but they are rarely told of the benefits, and this is wrong. It is hardly unbiased. And it is certainly unfair–both to the mother, because she may make a decision without full information, and to people like my son who may be robbed of the opportunity to grow up with more people like himself, not to mention that it is unfair to the world in general. With life becoming more frightening and less personal, don’t we need a few more people who are tenderhearted and willing to reach out beyond themselves and love unconditionally? I say yes, we do.
For a really awesome article on this very subject, check out “Golly What Did Jon Do?”!