The Importance of Seeing A Genetic Specialist

Updated: Sep 15

This week Dr. Paldeep Atwal, a board-certified geneticist at the Atwal Clinic in Jacksonville, Florida is a guest writer for our blog! Dr. Atwal and his team specialize in many areas, including connective tissue disorders such as Ehlers Danlos Syndrome, Loeys-Deitz Syndrome, or Marfan’s Syndrome. He sees patients from around the country, and even the world, and is compassionate and dedicated to understanding the diagnostic ups and downs of those with complex disorders.



A correct diagnosis is one of the first steps in improving individual health. An article from The Mighty tells familiar stories of people living with EDS that were previously misdiagnosed. “Although each of the 14 subtypes of Ehlers-Danlos syndrome has their own unique set of diagnostic criteria, some symptoms of EDS may mimic other illnesses” (Wyant, 2018). To put into more specific terms, there is significant overlap between sub-types of EDS, and indeed other genetic connective tissue disorders (e.g. Marfan syndrome).

Your rheumatologist may think you have fibromyalgia, your neurologist may diagnose you with chronic migraines, your PCP thinks it may be some issues with anxiety or depression, and your orthopedic surgeon just sees dislocations. While some of these may be accurate, none of them tune into the underlying cause of EDS so rarely can they treat accordingly. But can you blame the rheumatologist, neurologist, PCP, orthopedic surgeon, or whichever healthcare professional that has tried to find a diagnosis for the myriad of symptoms associated with EDS? Afterall, EDS is a rare genetic disease and they can only go off of what they know or are trained to detect. Considering the minimal training that medical students get in genetics, and the fact that EDS is one of 7,000 rare genetic diseases, it’s a miracle that anyone finds a correct diagnosis without a geneticist (“FAQs About Rare Disease,” 2017). If your physician is able to determine what your diagnosis is based on matching up the EDS diagnosis criteria, are they able to explain the how or why without formal training in clinical genetics?

Specialists are essential when pursuing care for certain systemic illnesses because they dedicate their lives to becoming experts in their field. As EDS is a genetic disorder, when seeking diagnosis and care, it is important to see a clinical geneticist –a specialist in genetics- someone who understands your disease as well as the spectrum of related disorders. Their thorough knowledge of medicine and genetics allows them to detect the overlapping conditions that can come with EDS.

Clinical geneticists understand genetic testing in and out: which genes to look at, which tests to order (which can save patients thousands of dollars), and how to explain them in a way that is easy for patients to understand. Alternatively, Genetic Counselors are able to explain genetic test results, but are unable to provide many other services Clinical geneticists do including:

1) Ordering medical tests; including genetic testing

2) Establishing a clinical diagnosis for a patient

3) Performing a medical examination of a patient

4) Medical management of a patient

5) Medical treatment of a patient


In summary, it is important to see a genetic expert for EDS to avoid misdiagnosis and receive the best care available. Understanding EDS is key for the healthcare professional and patient to manage symptoms and ultimately improve overall well-being. A geneticist looks at their patients as a whole – from family history, to their displayed symptoms, all the way down to variations on the molecular level. This allows them to understand the what, why, and how of your condition to provide the best care.


Article written by Dr. Paldeep Atwal, MD

Here at Actify, we are dedicated to helping our patients receive the most well rounded and comprehensive treatment. By working with geneticists, Dr. Perretto enables her patients to receive treatment that would otherwise be unknown or a stress to get into. We are here for you!


References:

“EDS Types.” The Ehlers Danlos Society, www.ehlers-danlos.com/eds-types/.

“FAQs About Rare Diseases.” Genetic and Rare Diseases Information Center, U.S. Department of Health and Human Services, 30 Nov. 2017, https://rarediseases.info.nih.gov/diseases/pages/31/faqs-about-rare-diseases.

Gregg, Anthony R., and Maximilian Muenke. “H.R. 3235 – Access to Genetic Counselor Services Act of 2019.” Received by David Loebsack, and Mike Kelly, H.R. 3235 – Access to Genetic Counselor Services Act of 2019, 9 Jan. 2020.

Wyant, Paige. “18 Conditions People With Ehlers-Danlos Syndrome Were Misdiagnosed With.” The Mighty, Mighty Proud Media, Inc, 5 July 2018, themighty.com/2018/07/ehlers-danlos-syndrome

34 views
  • Instagram Social Icon
  • Wix Facebook page
  • Wix Twitter page
  • Instagram
  • Wix Facebook page
  • Wix Twitter page

To Schedule An Appointment

Call 561.366.2435​

7000 W Palmetto Park Rd
Suite 305
Boca Raton, FL 33433​

© 2017 by Actify Physiotherapy.

© 2017 by Actify Physiotherapy.