Einstein Syndrome: Down Syndrome with a Positive Attitude

Mary Kauk was born with Down syndrome in November of 1992. Early in her life I was blessed to find a cadre of parents who refused to be satisfied with the status quo. For sixteen years I have associated with these people, sometimes challenging them, and more often finding myself challenged. During these years we have seen the future change for the child born with Trisomy 21. Our research, struggles, experiences and successes are recorded in the archives of a few private email lists.

I have attempted to distill what I wish I could tell a new parent. Over the next several days, I’ll be posting the Top Fifteen Things New Parents Should Know. Beginning with #15, below, I’ll post in reverse order what I would do from the beginning if I once again had a baby with Trisomy 21.

15. Treat the Thyroid

The thyroid is a gland that I hardly gave a thought to until my daughter was born. I couldn’t have told you where it was (it is on the front of the neck), nor could I have told you what it was good for (thyroid hormone regulates the rate of metabolism). Actually, I didn’t give a thought to this gland for the first five or six years of Mary’s life. The doctors did tests. They told me everything was fine. And I trusted them. Since those early years, my husband and I have learned that it is our responsibility to monitor Mary’s thyroid function, because no one else cares about the result.

A Syndrome is a Laundry List of Symptoms.

Look through the following list of symptoms:

•    Puffy face
•    Swollen tongue
•    Hoarse cry
•    Cold extremities
•    Mottled skin
•    Low muscle tone (floppy, no strength)
•    Poor feeding
•    Thick coarse hair that grows low on the forehead
•    Large fontanel (soft spot)
•    Prolonged jaundice
•    Herniated belly button
•    Lethargic (lack of energy, sleeps most of the time, appears tired even when awake)
•    Persistent constipation, bloated, or full to the touch
•    Little to no growth
•    Mental retardation
•    Low body temperature
•    Orange skin
•    Thinning hair

It is pretty good description of the Down syndrome, right? Wrong!  This is a list of symptoms of low thyroid function in infants. Much of this list is from Mary Shomon’s book: Living Well with Hypothyroidism.

The Syndrome:  Hypothyroidism or Down Syndrome?

Many symptoms of low thyroid function—including mental retardation and slow growth—are eerily similar to those of Down Syndrome. Indeed, low thyroid function is a usual part of Down Syndrome, and yet most physicians are lax about this entirely treatable problem. It is quite likely that much of the “syndrome” named after Langdon Down is the result of low thyroid function, especially in infancy and childhood.

Cretinism is one of the first causes of mental retardation that was identified as treatable. It is caused by insufficient thyroid hormone the early years of life. Cretinism was identified a hundred years ago and today is routinely tested for and treated at birth. Yet when a child with Trisomy 21 is also hypothyroid, well, “that’s just an expected part of Down Syndrome.”

Definitions:  TSH, T4, T3, and Sumo Wrestlers

Ginger Houston-Ludlam wrote on the Einstein-Syndrome email list to explain the thyroid system:

TSH is Thyroid Stimulating Hormone. It is what the brain (pituitary) releases to tell the thyroid, “Make more thyroid hormone.” This is all a negative feedback loop. When the thyroid releases T4, it suppresses the pituitary’s release of TSH. So, if all is well, it is fairly tightly regulated. If that number is high, this means that in the brain’s opinion, there is not enough thyroid hormone in [the] body, and it is kicking the thyroid in the tail to get it to make more.

T4 and T3 are the main thyroid hormones that act in the body. (There are a few others, but we’ll ignore them for purposes of this discussion.) T4 has four iodines on it, and T3 has three iodines on it—that’s the only difference chemically.

However, there is a huge difference metabolically. T3 is much more active in terms of stimulating cellular metabolism than T4 is. It’s kind of like the 98 pound weakling versus a Sumo wrestler! Anyway, if your T3 number is low, (and T4 levels normal) that means you have a bunch of 98 pound weaklings running around in your body and not enough Sumo wrestlers. It is likely that all the work that needs to be done by the thyroid hormone in your body may not be getting done. Thyroid controls metabolism (lethargy, body temperature, weight) and rate of cell division (growth) amongst many other things.

A normal kid can absorb the results of a slightly hypoactive thyroid for years and still end up with pretty good function. But a child with Trisomy 21 doesn’t have the margin to spare. With everything else to deal with, your child needs a thyroid gland functioning in top condition, and if it is not, then your child need supplemental thyroid hormone to make up the difference. You don’t want untreated hypothyroidism to worsen the obstacles your child is already facing.

Mary’s Story

When my daughter, Mary, was seven, we had complete thyroid work-up.  I know now that I should have been doing this routinely, but I didn’t know that then.   Mary had normal T3 and T4, normal antibodies, but high TSH (just a bit outside of this lab’s normal range).  For the previous year, I had had a growing worry that her thyroid was going out.

Her symptoms were pointing to low levels of thyroid hormone. . She had stopped growing out of her clothes. A year and a half before I bought her a pair of shoes, and as I usually do, I bought them just a little big because I have too many children to be buying them new shoes every month. Those shoes were still too big! She was wearing the same pants that she wore two winters previous. Her basal body temp had been 96°F consistently, indicating a lowered metabolic rate. Her skin was mottled. Her auditory processing had been stalled at a four year old level for the past two years, (actually getting to five two years previous and regressing and getting stuck at four) indicating a slowing of brain growth. She was orange, and sufficient thyroid is necessary for conversion of beta-carotene, the orange precursor of Vitamin A. She was becoming increasingly reluctant to do anything the least bit strenuous or difficult, collapsing into a whining pile on the floor when we asked her to do what should be simple things.

When her TSH came back high, I scheduled a consultation with Mary’s doctor. (I loved this doctor. She once told me, “I don’t have a child with Down syndrome, but if I did, I would do everything I could do to help my child.”) I wrote up my talking points, and gave her a copy as we met, so she could see my arguments in writing. She was wanting to wait six months to see what happened with the TSH, and I realize that this is standard procedure. But my strong feeling was that this hypothyroid problem had been there a while, based on the symptoms.

I wrote up the list of symptoms of hypothyroid in children and had her notice how similar that list is to classic Down Syndrome. I told her the things we are doing to combat the almost inevitable retardation that everyone expects from a child with Down Syndrome. I told her about the neurodevelopmental program we have Mary on to build dendrite-axon pairs in a systematic, efficient manner. I told her that we were supplementing the precursors to the neurotransmitters in a targeted nutritional supplement because the neurotransmitters are low in Down Syndrome. I told her we are supplementing antioxidants to keep the SOD over-expression from destroying neurons with hydrogen peroxide after we had worked so hard to build neural pathways. Then I said that all that was just spinning wheels if sufficient thyroid hormone wasn’t there for brain growth.

I told her that one of the biggest problems parents of Down Syndrome kids have is this brick wall we keep running into that says, “Down Syndrome is supposed to be that way.” I told her that if Mary was going to be retarded, then I wanted it to be something that was inevitable, and not because of something that I could have treated. And I stressed that Mary was not going to get age seven to do over again. Time was slipping by for her, and her development was slipping.

The bottom line is that I walked out with a 30 day, non-refillable prescription for a very low dose of Synthroid, a T4 supplement. During the next year we twice traveled to another state to see a doctor who is aggressive in thyroid treatment. Throughout that time we tinkered with Mary’s dose of thyroid hormone, increasing it, and also switching to Armour, which contains some T3. We ended with a combination approach, some of the T4 supplement, and some Armour. Because her blood tests indicated low zinc and selenium levels, we have also tinkered with her supplemental nutrition, increasing her dose of each.

One year later her skin was no longer orange or mottled. Her daytime body temperature was 98.6°F indicating an improved rate of metabolism. Her auditory digit span had increased from four to six, indicating renewed brain growth. She was growing again.  Her energy was back, and we almost never saw the whining reluctance to do what we asked.  She initiated learning opportunities and physical activity.

I shudder to think what Mary’s lot would have been if I had not known to be aggressive with treating her thyroid, writing off her symptoms as “just part of Down Syndrome.”

How to Treat the Thyroid

Here are the steps to take to treat your child’s thyroid.

1.  Never accept, “Everything looks fine,” as an acceptable report on lab tests.   You must get copies of the lab results yourself, and you must learn to read them.

2.  Realize that there is a difference between a healthy blood level of thyroid hormone and a “normal” level.  Think about it…. who goes to their doc to request tests for thyroid problems?  Well, that would be people who are experiencing symptoms of thyroid problems.  So the statistically “normal” range from the lab includes a disproportionate number of results from people with thyroid problems.  You want your child to have a healthy thyroid hormone level, not a level at the outside edge of normal.

3.  Levels of zinc and selenium are almost always low in DS, yet these two minerals are critical for thyroid health.  Either measure your child’s blood levels, and supplement to get their levels healthy, or simply use a vitamin product targeted for DS.  I use Nutrivene-D.

4.  When vitamin supplementation is not enough, there are over-the-counter desiccated bovine thyroid products that you can use.  International Nutrition has a product called OrganRx which some have used successfully.

5. Be assertive with the doctor.  Do your research.  Know the medical literature.  Read patient sites like Mary Shoman’s.  Your doctor does not have the time to do this research for you.  You must do it, and present to your doctor the information he/she needs to make a reasonable decision to treat hypothyroidism.

More on this site about the thyroid:

The Importance of Thyroid Treatment in Down Syndrome

Thyroid Case Histories

Doctors and Hospitals

As we work to keep our children with Down Syndrome healthy, it is wonderfully helpful to build on the research and experience of parents who have gone before us. The health of our children is a major topic on the Einstein-Syndrome list. This does not constitute medical advice, but only the experience of other parents dealing with Down Syndrome.

Remember that every child is different. What works for one child may not work for another. The ideas presented here are sometimes out of the medical mainstream. Your doctor may not endorse them. We strongly advise that you use our discussion only as contributing data for your own research, consult with appropriate medical professionals and make your own decisions. If, after doing your research, you decide to follow a practice that is out of the medical mainstream, carefully monitor your child’s progress by appropriate medical testing and oversight.

Filed under: Down Syndrome, Health, Start Here | Tagged: thyroid