Miriam Kauk is mother to Mary, a delightful and accomplished 8 year old girl with Down Syndrome who was diagnosed with hypothyroidism. Parents of children with Down Syndrome may not realize that there is a higher likelihood that their children will have underactive thyroids, and as part of her parent empowerment efforts, Miriam has agreed to speak with us about some important issues for parents.
Mary Shomon: Can you share your own experience as the mother of a daughter with Down Syndrome who was also discovered to be hypothyroid?
Miriam Kauk: At age 7, Mary got a complete thyroid work-up. She had normal T3 and T4, normal antibodies, but high TSH (just a bit outside of this lab's normal range). For almost a year I had had a growing worry that Mary's thyroid was going out. The problem is that I didn't have numbers, and doctors depend on numbers. Mary never goes to the doctor, because she is never sick. This thyroid testing was the first we had had since she was a baby. So I didn't have a history of TSH numbers to compare this one to.
But I had been noticing symptoms. 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. After a year and a half, those shoes were still too big! She was wearing the same pants that she had worn two winters previous. Her basal body temp has been 96°F consistently, indicating a lowered metabolic rate. Her skin was mottled. Her auditory processing had stalled at a digit span of four for 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 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 realized that this was 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 hypothyroidism 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 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, "But 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. Here is the thing: usually I am a very non-drug, non-medical type of person. So my goal was not to convince the doctor to prescribe Synthroid, but to understand what we needed to do for Mary. Her symptoms and the high TSH told me that something was wrong.
Mary Shomon: How common is hypothyroidism in Down Syndrome children. Do you have a statistic as to how many Down Syndrome children are hypothyroid?
Miriam Kauk: Down Syndrome, with its triplication of every gene on an entire chromosome, has been aptly characterized as a cacophony of metabolic errors. There are numerous biochemical pathways that have been disrupted for these people, and my cursory reading indicates that several of these pathways play into thyroid function. One study that I read reports autopsy findings of abnormal thyroids in virtually every case of Down Syndrome. A physician with a large caseload of DS patients has indicated that in his experience, it is not if the thyroid will go out, but when.
Mary Shomon: Is it easy for a parent or physician to overlook hypothyroidism in Down Syndrome children?
Miriam Kauk: The symptoms of hypothyroidism are part of the package that parents and physicians have come to expect in Down Syndrome. Even with blood tests that clearly indicate a dysfunctional thyroid, physicians often refuse to treat because it is normal for people with Down Syndrome to have similar blood test results.
Mary Shomon: What are some of the symptoms of hypothyroidism that parents might think are normal for Down Syndrome, but might actually signal an undiagnosed thyroid condition?
Miriam Kauk: Some commonly recognized symptoms of Down Syndrome are a puffy face, swollen tongue, low muscle tone (floppy), poor feeding, lethargy (lack of energy, sleeps most of the time, appears tired even when awake), persistent constipation, slow growth, thin hair, mental retardation. Every one of these is also a symptom of hypothyroidism in children.
Let me clarify something on the overlap between Down Syndrome and hypothyroidism. As a parent I am realizing that DS is a huge puzzle. There are two hundred over-expressed genes, each with a little piece of metabolism that it affects. The symptoms above may be the cumulative result of several processes.
For example, poor muscle tone can result from poor thyroid function. But there are also collagen genes on chromosome 21 which affect muscle tone. Nutritional intervention in the collagen pathways seems to improve muscle tone. Also for example, mental retardation is surely a result-at least in part-of the increased oxidative stress upon neurons because of another triplicated gene (SOD) on chromosome 21. Sufficient thyroid hormone is necessary for brain growth, but the mental retardation piece of the puzzle is not likely to be solved without nutritional intervention to deal with the oxidative stress. I am coming to understand that common symptomology of DS is the result of numerous, overlapping, individual metabolic errors.
What I am saying is that I don't want to be understood too simplistically. Down Syndrome is a complicated disease. Parents, with the help of some wonderful medical professionals are beginning to put some pieces together in this puzzle. Thyroid seems to be a significant piece.
Mary Shomon: Are there any other interesting connections you've found between thyroid and Down Syndrome?
Miriam Kauk: An interesting piece of data has recently been reported by a two moms on my email list. Each had a child with DS who had been hypothyroid. After a few years of treatment, they were able to wean their daughters off of thyroid supplements, with no increase in TSH and no recurring hypothyroid symptoms. I'm speculating, but it seems that in DS, being hypothyroid may sometimes be a result of nutritional stress in some of the metabolic pathways, and as that nutritional stress is alleviated, the thyroid recovers its function.
Mary Shomon: If a parent or guardian of someone with Down Syndrome suspects hypothyroidism, what would you suggest the next steps be?
Miriam Kauk: First I would urge the parent or guardian to get educated. To have your child or adult relative with Down Syndrome get the best health intervention you are going to have to know more about DS than your doctor. Read Living Well with Hypothyroidism. Read up on the emerging understanding of DS that results from the new scientific knowledge of which genes are on that 21st chromosome. Talk to other parents who are seeing positive results in their own children. I would also suggest paying careful attention to nutritional status, as zinc and other nutrients that are necessary to healthy thyroids are typically low in DS. Before you approach your doctor, I suggest that you make a careful record of symptoms, including basal body temperature, and changes in growth and function. A careful record of symptoms enabled me to receive a "therapeutic trial" of Synthroid from my daughter's pediatrician.
Mary Shomon: Are there any specialists, resources or organizations that would be of help to parents of Down Syndrome children with suspected or diagnosed thyroid problems?
Miriam Kauk: As far as specialists, they are few and far between. The best results may come from finding a physician who is knowledgeable about treating hypothyroidism from either your website or one recommended by Broda Barnes and then educating that physician as to the interrelationship between DS and hypothyroidism. Mary, as hard as it may be for people with hypothyroidism to find physicians who will treat their condition, it is even harder to find a physician who is willing to intervene in the many treatable aspects of Down Syndrome.
I learned all that I know about thyroid in DS from the help of other parents on several nutritionally oriented DS mailing lists. Much of their input on thyroid treatment is summarized on my website. Some parents dig into the medical databases, some research in the medical textbooks, some forge relationships with supportive professionals, some adjust their children's supplements, get bloodwork, and report the results. Together we are finding solutions for our kids.
Mary Shomon: How has your daughter Mary fared since she started receiving thyroid treatment?
|Miriam Kauk: During the past year we have traveled twice to another state to visit Doc Don (Don Michael), a doctor who is aggressive in thyroid treatment. We have tinkered with Mary's dose of thyroid hormone, increasing it, and also switching to Armour, which contains some T3. Because her blood tests indicated low-normal zinc and selenium levels, we have also tinkered with her supplemental nutrition, increasing her dose of each. Now, her skin is no longer orange. Her daytime body temperature is 98.6°F indicating an improved rate of metabolism. Her auditory digit span has increased from four to six, indicating renewed brain growth. We are seeing good academic function and greatly improved speech. She is growing again. Her energy is back, and we almost never see the whining reluctance to do what we ask. She initiates learning opportunities-she loves math, we are working on carrying now-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."|
To contact Miriam, email her at:
firstname.lastname@example.org or visit her website at http://www.tbinet.org/einstein-syndrome.
Miriam's thyroid specific pages are located at:
For contact with other Down Syndrome parents and caregivers, subscribe to one or more nutritionally oriented DS mailing lists:
Einstein-Syndrome, the list which originated most of the content of Miriam's website:
- DS-Nutrition is an email listserv for families who use NuTriVene-D as
nutritional therapy in Down syndrome. Topics of discussion include
implementing the TNI protocol, metabolic testing, educational issues,
general health issues, dietary concerns and more. Subscribe here
- DSTNI is a list with a wide range of topics and general support for
families dealing with Down Syndrome, but with particular interest in
health and nutritional intervention. To subscribe, send a blank email