Ask Dr. Driscoll: If My Daughter’s EDS is Genetic, How Can Treatment Help?

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Dear Dr. Driscoll,

We are not quite sure, but my daughter might have EDS and POTS, last tests will be made soon. Now my question: as I know EDS is a genetic defect, how can this be treated, you can‘t change genes?

Sorry for my English, we live in Germany and I am looking for help. Thank you for your answer.

– Claudia

Dear Claudia,

This is such a great question! I remain shocked that no one has located the genes responsible for the majority of EDS patients! This means that we cannot know what aspects of the presentation may be treatable. I discuss this in Chapter 6 of “The Driscoll Theory”. Here is a section from that chapter:

Where Have We Failed With EDS/POTS?

How have patients suffered with EDS/POTS for decades, with little help beyond symptomatic assistance?

Most of the genes for Classic EDS and (basically) all of the genes for Hypermobile EDS remain elusive. As such, no evidence exists that these conditions are purely genetic (and no evidence exists that they are purely genetic defects of collagen). Somehow, as the nosology of the various forms of EDS changed, this fact became lost. Only through close analysis of the nosology of EDS does this contradiction become obvious. Practicing physicians are rarely able to stay abreast of obscure details such as the genetics of “rare” disorders, and this contradiction remained hidden.

Hypermobile EDS is said to be a genetic disorder with an autosomal dominant inheritance pattern (as is about half of Classic EDS). This statement has been repeated for decades – without evidence of a genetic defect of collagen, without studies indicating a 50% inheritance pattern, and in the face of informal evidence that the “inheritance” pattern was near 80%. This misconception was also left to stand unchallenged. Patients (and their physicians) assumed that patient symptoms were due solely to genetic defects of collagen, stalling any thoughts to the contrary, or any studies evaluating the possibility of acquired (and preventable or treatable) conditions. Lacking specific genetic defects and lacking formal studies of inheritance, these statements now seem absurd.

There is lack of research, lack of funding and lack of peer-reviewed journal articles for joint hypermobility, EDS and EDS/POTS. Although it is presumed that 90% of patients with connective tissue disorders are never diagnosed, little effort has been made to screen the general population for EDS or joint hypermobility syndrome and publish the results. If joint hypermobility (or EDS/POTS) was found to be as common as many predict, this condition could receive the medical attention it properly deserves. With such attention, a huge number of patients currently diagnosed with somatic disorders or anxiety and depression could receive a proper diagnosis – the first step needed for effective treatment.

While in the hospital with life-threatening infections, I was frustrated to learn that there were few or no published articles about our difficulty with sedation and pain control. As patients, such difficulties are something we find to be common. No one in the hospital, however, was familiar with the basics of EDS, much less the nuances of EDS. We had no journal articles to give them, so difficulty with sedation and pain control was seen as “psychosomatic”. We have much to learn about EDS, but it is critical to release what we do know to help patients today.

All too often, females are (incorrectly) prejudged to have psychosomatic, emotional or hormonal issues as a cause of symptoms, and patient testing may be incomplete and inadequate.

Underlying causes for many “invisible illnesses” are not apparent in routine testing. Rather than consider more advanced testing, it can be easier to assign the patient with a somatic diagnosis. Hyperadrenergic POTS patients are routinely diagnosed with “anxiety”, for example, despite objective evidence of abnormal catecholamine production only found in the vertical position. Once labeled with a somatic diagnosis, effective treatments often remain elusive.

Because EDS/POTS can affect every system of the body, patients are shuffled between specialists. Very few have stepped back to consider the body as a whole. Rarely has someone asked, “What could tie all of these symptoms together?”

More can be found in “The Driscoll Theory”. In my lifetime, I would like to see proper labels for these disorders — based on the genetic defects. Without this objectivity, I’m afraid patients may continue to suffer — not only with dramatic symptoms but with a lack of validity and proper care. We must identify the treatable aspects of this “invisible” illness.

Diana Driscoll, OD

Founder, Clinical Director at POTS Care

Dr. Diana Driscoll, an Optometrist, is the President of Genetic Disease Investigators, LLC – a research corporation devoted to helping people affected by “invisible illnesses”. Read more…

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