Issue #31 – Shimmy’s Story

Posted on Posted in All Articles, Down Syndrome and Congenital Heart Defects

Shimmy is a 26-year-old delightful young man who has Down syndrome.  He has been functioning at a very high level and was very involved in the day hab program he was attending.  He was always full of energy and was involved in all the goings on both at home and in the programs he attended. As with many adults who have Down syndrome, he is obese but understands that it is important that he exercise and try to watch his diet to the best of his ability.

Shimmy has very involved parents and support. Earlier this year they brought him to see me because the family had noticed significant changes in his behavior. In spite of everyone’s best efforts, Shimmy had started gaining weight and complained of feeling more tired and not having any energy.  Other signs and symptoms that the family noticed were lethargy, dry skin and constipation.

Because of COVID, Shimmy like many other young men, was not able to participate in many of the typical group activities that he had been involved in.  The family attributed his listlessness to a lack of social interaction and like many others, some ‘mild’ depression.

After hearing these complaints and seeing Shimmy, we obtained blood tests.  I had my suspicions but did not want to discuss them until we had confirmation. His labs came back with some very significant finding.  Firstly, his TSH came back at 18 with a low T4 of 4.6.  These are classic findings of hypothyroidism, or an underactive thyroid. His Vitamin B12 was 206 which is also abnormally low. Additionally, his cholesterol numbers were also abnormal with a high total cholesterol and a high LDL (which is the bad cholesterol).

Armed with these numbers I contacted the family and told them that I think we may have an answer to Shimmy’s symptoms.  We started him on oral Synthroid, (thyroid hormone replacement) as well as Vitamin B12 pills. Six weeks later Shimmy was back in our office and the report from his family was very different. They had their ‘old’ Shimmy back.  He was once again interested in participating in everything and was once again the center of attention.  He was happy to go out, was sleeping better, and not complaining of any of his previous symptoms. Even his constipation had resolved.  Repeat blood tests confirmed what we suspected.  His TSH, B12 had normalized and his cholesterol had returned to normal as well.  Shimmy was back.

I used a personal case history because I feel that it is important to illustrate how sometimes we forget the need for screening on an ongoing basis in patients with Down syndrome.

It is unclear why they are more susceptible to thyroid dysfunction, but there is a much higher prevalence in these patients. In fact, the recommendation is to do yearly screening in individuals with Down syndrome. In fact, there is a much higher incidence of various autoimmune diseases including diabetes (obesity doesn’t help) as well as gonadal dysfunction. Vitamin B12 deficiency may be related to an autoimmune process as well, and is often associated with hypothyroidism.  A low B12 level can lead to a host of other complications, including anemia, which may further the symptoms of fatigue a patient may experience.

I felt that by humanizing one of my patients one realizes how important it is to screen and how easy it is with simple oral medications to improve symptoms and restore quality of life to our patients with Down syndrome.


Dr. Meyer S Halberstam
Director of Endocrinology ODA health clinic

Assistant Clinical Professor Albert Einstein College of Medicine