Thriving With Down Syndrome

Down syndrome is a genetic condition that carries physical, emotional, and intellectual concerns. But with proper health care, and a dose of realistic optimism, patients and their families can live happy and fulfilling lives. Geneticist Elsharkawi, MD, maintains that collaboration amonghealth care providers and an attitude of realistic optimism is key.


[00:00:00] Stephen Calabria: . From the Mount Sinai Health System in New York City, this is Road to Resilience, a podcast about facing adversity. I'm Stephen Calabria.

[00:00:10] Today on the show we welcome Dr. Ibrahim Elsharkawi. Dr. Elsharkawi is a medical biochemical geneticist and an assistant professor of genetics at the Icahn School of Medicine at Mount Sinai.

[00:00:21] Having begun his medical career in Boston, Dr. Elsharkhawi is helping spearhead the creation of a new clinic at Mount Sinai to research and take care of patients with Down syndrome. We're honored to have Dr. Elsharkhawy on the From the Doctor Ibrahim Elsharkawi, welcome to Road to Resilience.

[00:00:41] Dr. Ibrahim Elsharkawi: Thank you. I'm happy to be here.

[00:00:42] Stephen Calabria: Could you give us a bit of your background?

[00:00:44] Dr. Ibrahim Elsharkawi: Sure. I'm a medical biochemical geneticist. I'm board certified in pediatrics, medical genetics, and medical biochemical genetics, so I take care of people, primarily kids and adults, as well, with genetic conditions, metabolic conditions, and mitochondrial conditions that are genetic in origin.

[00:01:03] Stephen Calabria: One of the patient populations that you serve is people with Down syndrome. In medical and lay person's terms, what is down syndrome?

[00:01:13] Dr. Ibrahim Elsharkawi: I think to answer that, I would first need to provide a broad overview of genetics and chromosomes. So if you think of all of our DNA as a book, if the genes, the many, many different genes that we have that tell our bodies how to work in various ways, are words on a page, and the pages themselves are chromosomes that contain the genes.

[00:01:34] Typically we all have 23 pairs of chromosomes, so 46 chromosomes altogether. We inherit a chromosome from each parent. So that's why it's 23 pairs. In Down syndrome, people with Down syndrome have an extra copy of chromosome 21. So rather than the typical two copies of chromosome 21, they have three copies of chromosome 21.

[00:01:57] This is also known medically as trisomy 21. And there are about 200 to 300 genes on chromosome 21. And so that extra copy and that extra gene dosage can lead to not just having Down syndrome, but being at increased risk for medical and neurobiological and developmental conditions that are unique to people with Down syndrome.

[00:02:20] Stephen Calabria: Now, before we continue, in prepping for today, you've made a point that it is Down syndrome and not Down's syndrome. What explains the discrepancy there?

[00:02:31] Dr. Ibrahim Elsharkawi: So, Down syndrome is named after the physician, Dr. John Langdon Down, who is a UK physician who first kind of classified features of Down syndrome and first recognized the characteristic facial features of people with Down syndrome in the 1800s.

[00:02:48] In the U. S., we don't say, for example, Down's Syndrome, we say Down Syndrome. Similarly, for Turner's Syndrome, a different kind of genetic condition, we don't say Turner's Syndrome.

[00:02:58] We say Turner syndrome. In the UK, they phrase it a little differently, but here in the US, that's the typical language we use.

[00:03:06] Stephen Calabria: Is there a verified genetic link?

[00:03:10] Dr. Ibrahim Elsharkawi: So it's an extra copy of chromosome 21, and it most often happens sporadically. It's not inherited. There are certain types, very rarely, certain types of Down syndrome known as translocations, chromosomal translocations that that may be inherited.

[00:03:28] But most often it happens sporadically. So, it is a genetic condition, but not necessarily an inherited condition.

[00:03:34] Stephen Calabria: So, if it is not inherited, does that mean that it's just kind of a free for all? Like it's, it could happen to anyone at any time or are there other reasons for that?

[00:03:45] Dr. Ibrahim Elsharkawi: Yes. So this, this happens at the very, very early stages of embryogenesis when an embryo is first forming.

[00:03:52] And it can happen to anyone for any reason. It is associated with what we call advanced maternal age. So, the older a pregnant person is, when they become pregnant, the higher the chances of having a fetus with trisomy 21 with Down syndrome.


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