If you are a parent who is trying to get your child evaluated for Ehlers-Danlos Syndrome, you may have already discovered that it is often not a straightforward process. The Ehlers Danlos Society estimates it can take 10-12 years on average for a diagnosis. That can be a lifetime for a child. However, obtaining a diagnosis is important because proactively managing your child’s health is one of the best strategies for avoiding some of the more complex symptoms that can arise during puberty and beyond.
It is not uncommon for families to find themselves stuck in a frustrating cycle of long waitlists, referrals that go nowhere, and doctors who simply don’t understand the condition. It can be a very worrisome and isolating experience. Factors such as where you live and what type of insurance you carry can also unfortunately make it more difficult. Nonetheless, getting your child evaluated IS important, as Dr. Jeff Milunksy of The Center for Human Genetics explains:
“It is important to make a diagnosis of a genetic connective tissue disorder for many reasons. These include better management, surveillance for additional comorbid conditions, anticipatory guidance, and genetic counseling. These conditions require life-long treatment and hence an earlier diagnosis may lead to improved outcomes.”
Pediatricians have reported that obtaining genetic referrals for EDS can sometimes be challenging, which raises the question why? Is it a problem of validation or even EDS bias? Although bias can be a very real and unfortunate obstacle for our community, there are many reasons why genetic clinics may be reluctant to see kids suspected of having Ehlers-Danlos Syndrome. The reasons aren’t always as straightforward as they seem.
Who Should See Genetics?
Your child may be overly flexible, but children are naturally more hypermobile than adults. Hypermobility on its own is not a reason to suspect a child has a connective tissue disease. Unless your child has additional concerning symptoms (such as chronic pain or GI issues for example), your doctor may not feel that a genetics consult is necessary.
A Disease or A Disorder?
Geneticists are often consulted for conditions where there is a gene that can provide a clear diagnosis and offer targeted interventions. Since most forms of EDS, particularly hypermobile EDS (hEDS), currently have no confirmed genetic marker or curative treatment, many geneticists feel there’s little they can do beyond confirming a clinical diagnosis. This attitude of “why diagnose something if it does not change the treatment” is a fixed mindset you may encounter. (If you do, you may want to remind your physician that Loeys-Dietz and Marfan syndrome are also connective tissue disorders that do require genetic evaluation.)
Clinical Versus Genetic Diagnosis
Hypermobile EDS (hEDS) is clinically diagnosed using more subjective criteria like the Beighton Score and relying on patient history and identifying existing symptoms. Some geneticists may feel less comfortable making a clinical diagnosis given that geneticists are trained to confirm diagnoses by relying on genetic tests.
Subjective Guidelines
The Beighton score was originally developed for adults, so it is not considered as useful in younger children. In 2017, The EDS Society presented a new diagnostic criteria. This criteria has been criticized as being too narrow and it did not account for the many debilitating multi-system conditions associated with EDS such as GI issues and Dysautonomia. There was also concern that more guidelines were needed to address the changing needs of children during puberty.
In an effort to update the clinical confusion created by the 2017 criteria, The EDS Society hEDS/HSD Working Group of the International Consortium on EDS and HSD met and drafted updated guidelines specifically for Pediatrics. However, these guidelines have determined that “children should not be assessed with the 2017 criteria or diagnosed with hEDS until they have reached biological maturity”. So parents of young patients who are suspected of having hEDS, even though they may have other symptoms associated with EDS, may still have a hard time validating the need for a genetic referral.
Confusing Diagnostic Criteria
As previously explained, the 2017 diagnostic criteria has created some confusion among healthcare providers for a condition that was medically complicated and underappreciated to begin with. Some patients with clear EDS symptoms under the former Villefranche criteria no longer qualified for a diagnosis under the 2017 criteria. In spite of the presence of EDS related symptoms, many of these people were unfortunately left in limbo, stripped of access to care, insurance coverage at times, and support.
To further complicate things, Hypermobility Spectrum Disorder (HSD) can create more confusion for healthcare providers because people with HSD can have the exact same symptoms and can experience the same level of pain, fatigue, instability, and systemic issues as people who are diagnosed with hEDS. Yet HSD is considered benign by many physicians, another example of why the new 2026 diagnostic criteria is desperately needed.
Shortage of Pediatric Genetics
While demand is high for genetic counseling, there remains a shortage of providers. Pediatric genetic clinics often have wait times ranging from 3-18 months. Some clinics have no choice but to prioritize urgent or more clearly defined genetic conditions, so EDS may be placed lower on the list with the exception of concerns about the vascular form.
Fixed Thinking
There are providers, who view hEDS as a benign or over diagnosed condition, failing to recognize its disabling potential. There are others who may be thinking more about the child’s future wellbeing and may be reluctant to want to “label” a child with a chronic condition out of concern that doing so could create anxiety in both the child and/or parent.
Find Your Path
You know your child best. If you are concerned that your child’s symptoms could be related to EDS or a connective tissue disorder and you are being told that there is no value in seeing genetics, you may want to consider looking for a geneticist in private practice if you are able.
Online genetic testing companies are another alternative that is becoming more popular, but it’s important to proceed with caution. Online tests such as 23 and Me, are not a substitute for a clinical genetic evaluation. Some companies may also lack expertise according to Dr. Jeff Milunsky who explains. “direct to consumer testing and non-experts ordering and interpreting this testing remains problematic as “negative” test results often lead to the patient being told that they do not have EDS.”
Privacy and protecting your personal data is another issue to keep on your radar as many companies share de-identified data with third parties for research. Always read the privacy policy and opt out of data sharing if that is something that concerns you.
Many direct-to-consumer tests may also not sequence your entire genome. Tests might miss key variants or provide information about risk without context (e.g., “increased risk for Parkinson’s” doesn’t mean you will get it). The results can be easily misinterpreted if you do not have the help of a trained genetic counselor to provide guidance.
Virtual online genetics clinics are another emerging option that can provide genetic counseling and may help alleviate long wait times, but again, it is important to do your research. Look for providers who offer telehealth evaluations and have geneticists to guide your testing, interpret results and offer referral support if needed.
Genetic diagnosis can be an important tool in understanding your child’s health and proactively managing their care. If you and your primary physician believe a genetics evaluation is important, but you are being told that the clinic is “not taking EDS patients”, stay persistent. You are your child’s best advocate.
In the end, your child still may not end up needing genetic testing done, but that decision should at least be made by a trained genetic counselor who has seen and examined your child, and not the scheduling department of a busy genetics clinic.
Donna Sullivan
April 2025
