News & Events

RARE from the Front Lines : The Good, The Bad And The Ugly


In Washington DC and all around the world events have been taking place as advocates, physicians, patients and policy makers meet to talk about Rare. Support groups are hosting events and people are sharing their stories in the hope of shining a spotlight on the many lesser-known diseases that are not always well understood, perhaps well funded or effectively treated.  Since an estimated 30 million Americans live with Rare Diseases, this is an important day.

There are so many families, like mine, who navigate the daily challenges, uncertainty, fears and frustrations that are part of living with a rare condition.  The goal of this global event to promote awareness, celebrate progress, and highlight the need for more resources is a wonderful thing. However, as a mother and a TCAPP volunteer who has had the privilege to meet so many families living life with rare, I can tell you that from the front lines, the situation is still not good.  I am saddened to report that mainstream medicine is still often failing rare– and sometimes in disturbing ways that seem to reflect a larger and more serious problem in our healthcare system.

For example, in the last 60 days our New England support group has witnessed:

  • A child dropped by her second PCP because she was told she was too complex. The physician explained that she was not able to get local specialists within her network willing to get involved in her case. (Even though it included a Children’s Hospital.)
  • A child was informed she is no longer able to have her shoulder surgery done by her orthopedic because the hospital is no longer “taking” complex pediatric Ehlers Danlos Syndrome surgeries.
  • A child was discharged from a children’s hospital with a subluxed and possibly disclocated hip. Her mother asked repeatedly for an orthopedic consult but was not granted one as she has Ehlers Danlos Syndrome, is quite deconditioned and already in a wheelchair. She had been admitted for issues with her feeding tube, and the hospital chose to fulfill the minimum and acute reason for her admission. The mom reported the ride home from the hospital was pure hell as her daughter’s pain level was still quite high and she felt every bump in the road.
  • A family from Pennsylvania drove to Boston to see a neurologist for their child’s Complex Regional Pain Syndrome. On exam, the neurologist talked about the strong link between abuse and CRPS. No medical or therapeutic assistance was offered and the parents were very upset with the implied accusation. Being aware of the high incidence of CPS charges filed against families whose kids have rare conditions that are not recognized, this family left the hospital in fear.


It is estimated that over 30 million people in the US are living with rare diseases. Half of them are children.  The lack of financial incentives to treat these conditions is seeping into decisions on patient care and sometimes even impacting access to care. Is the Hippocratic oath becoming extinct?

I will not be ashamed to say “I know not,” nor will I fail to call in my colleagues when the skills of another are needed for a patient’s recovery.

Conversion, somatic and psychological diagnosis is all too often the go-to explanation when symptoms are not recognized or understood. Nobody knows this more than the rare community. The clinical consequences and emotional impact of these diagnosis can be damaging and create obstacles for patients in their journey for diagnosis and proper treatment.

I will remember that I do not treat a fever chart, a cancerous growth, but a sick human being, whose illness may affect the person’s family and economic stability. My responsibility includes these related problems, if I am to care adequately for the sick.

Physicians are often allowed a very limited time for each appointment. The time pressure on them can be intense. Yet rare and complex patients often require extra time to be adequately treated, and this is extra time is not covered by the insurance companies. So what’s a doc to do?  Imagine all the extra money insurance companies waste paying for unproductive visits and appointments that could be saved if we could help people obtain earlier diagnosis, and connect with experienced specialists earlier on.

I will remember that I remain a member of society, with special obligations to all my fellow human beings, those sound of mind and body as well as the infirm.

See what Rare is up against? As if having a rare condition is not enough. Many families share stories of disappointing appointments, declined diagnostic testing, the need to travel and expenses incurred. It can take years to get proper diagnosis and an experienced medical team in place.  The process itself can be draining, and in some cases, even traumatic.

How can we turn this around?  Did you know that many rare people feel that hospital ER’s are the worst place for them to go when they require acute care? How can we change that?

How do we restore the purpose of medicine in this country?

People need to matter more than bottom lines. No matter how complex or costly they may be.


The Ehlers Danlos, Mito, Dysautonomia and CRPS families in our support group are extremely grateful for the knowledgeable experts and physicians who DO understand rare conditions (and equally as important,) the co-morbidities associated with them.  These doctors work extra hours to support our kids, and often have to go above and beyond to help advocate for their young patients. We are also extremely grateful to the researchers who keep searching for answers in diagnostics and treatment, and pharmaceutical companies developing new therapies – especially for those whose metabolic issues may be different from the norm.  We are extremely grateful to the hospitals and institutions willing to allocate time and resources to treat people with rare conditions, and that support their physicians who work with the rare and complex community.  We are extremely grateful for organizations such as RSD Hope, RSDA, Mito Action, EDNF, Dysautonomia International, National Dysautonomia Research Foundation, The Chiari InstituteRare Disease United, local support groups,  and so many others that help rare families to connect with physicians and resources needed.

And last but certainly not least, we are extremely grateful for efforts like Rare Disease Week. Information improves understanding.  Educating and promoting better awareness within the medical community and healthcare system is the only way to acheive better and more compassionate care for our kids.

They deserve it – all people do.

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