Beyond the Diagnosis

CEO and founder of arts organization Beyond the Diagnosis, Patricia Weltin, has two daughters with Ehlers Danlos Syndrome. Recently she spoke to us and explained how and why she launched her charity.

Both of Patricia’s daughters presented with differences from a young age. Olivia was sickly from birth and had deformed hands and feet and her other daughter Hana was extremely hypermobile, able to dislocate her shoulder and lick her elbow. They even joked that she should perform it as a trick on the David Letterman show. Finding humour in difficult situations has helped the family cope with uncertainty.

In addition to the hypermobility, both daughters had severe anaphylactic allergies, Olivia to shellfish and Hana to nuts. Olivia additionally had many issues growing up with ongoing ear infections. These were initially treated by several surgeries whereby tubes were inserted to reduce the fluid build-up. A chance discussion led them to explore the possibility of it being related to allergies.

“I took her to an allergist and they advised she was off the charts for everything. They put her on an allergy regime and she never needed tubes again, but by then she had lost four years of language skills which impacted her speech.”

Olivia was really sporty and an accomplished tennis player. As time went by, she started to experience a number of issues that caused concern, but on their own did not immediately get linked to one specific condition. She started to lose her teeth and had severe pain between her shoulder blades which was so bad that she needed multiple surgeries and was hospitalized. “Olivia never complained. She had a whole team of doctors, yet no one could work out what was happening. Whilst investigating the tooth loss they took a full jaw scan that also included her head. I got a call from the radiologist who told me she had a Chiari malformation. I had previously been to an EDS conference and so knew about it and recognized that a pattern was starting to form. From other parents I was chatting to on EDS Facebook pages I could see that Olivia was ticking quite a few of the boxes.”

“I then asked Hana to do the Beighton scale, which allows you to gauge hypermobility, and she scored nine out of nine. I called up the hospital and told them I thought it was EDS. They regrouped as a team and agreed with my diagnosis. It was crazy that after all this time and so many clinicians involved it was me who identified it.”

What followed was an extremely difficult time for the family. They discovered that both girls had tethered spinal cords and needed brain surgery. There was a point when they were both in wheelchairs and for some time Hana was completely bedridden.

The Beighton score is a popular screening technique for hypermobility. This is a nine–point scale and requires the performance of 5 manoeuvres, four passive bilateral and one active unilateral performance. It was originally introduced for epidemiological studies involving the recognition of hypermobility in populations. Therefore the scale was well suited, being easy and quick to perform with large numbers of people. The criteria of the Beighton score were the first used to recognize hypermobility, and this method has been in use for 30 years. It involves the evaluation of only a few joints and does not include other involved systems.

“There were times when my daughter’s ribs and hips were dislocating and I would need to go into the college to fix them. It was relentless. I started doing everything I could to find a way to ease their symptoms. I was researching autoimmune diseases and found there seemed to be a connection between them and EDS. I read a study that said people who had taken an older style antihistamine were experiencing an improvement in their condition and as they needed to take an antihistamine anyway we swapped it. We immediately saw a huge improvement.

We also adopted the Cusack protocol which recommended a supplements program. My kids were in wheelchairs and recently when we were able to go to the beach, it just hit me and I started crying. I never thought I would see this day. Hana is off at college and Olivia is doing great. There are more surgeries to come but I am not worried about them as things have improved so much.”

Patricia has a degree in finance and was a senior financial analyst for a manufacturing company prior to getting married. She did not have any knowledge of, or qualifications in medicine, however due to her lived experience and desire to learn as much as possible to help her daughters she has recently had an article on tethered spinal cord accepted for publication by the American Journal of Medical Genetics. Having always avoided promoting herself in the past, she now feels it is important to stand up for all those parents who, like her, felt ignored or belittled by a system that often refuses to accept the patient and their carers as partners in care.

“I remember somebody saying to me that people with rare disease often feel like they are on an Island of Misfit Toys and that's stuck with me. I said, we are! We are on an island and slowly more and more people are joining such as pharma companies, support organisations etc., but we're still on the damn Island. We can't get off the island. I want to reach out to the mainstream. Build a bridge off our island.”

Beyond the Diagnosis was originally started as an art exhibition for medical schools and then they were contacted by New England Haemophilia Association who asked to include their exhibition at a conference. Particia explained that they did not have any art included in that specific condition but they did not mind. “This is the beauty of art. It has a way of reaching so many people. It's about educating those people that don't know anything about it.”

Since launching, Beyond the Diagnosis has continued to reach audiences from Harvard Medical Journal to mainstream media. For Rare Disease Day this year she has collaborated with H4B Boston and Havas Health & Me for an exhibition to be displayed on billboards in New York City’s Time Square. Her dream of reaching those who have little or no experience of rare disease is becoming a reality.

Beyond the Diagnosis unites art and science to inspire research and innovation of treatments for people living with rare and neglected diseases. The Beyond the Diagnosis art exhibit’s focus is the rare disease patient. Artists have donated their time and talents to paint rare disease patients for this groundbreaking exhibit. Each portrait represents a single orphan disease. The goal is to put a face to all 10,000 rare diseases. This beautiful exhibit is travelling to medical schools, research institutes and hospitals around the globe encouraging the medical community to look “beyond the diagnosis” to the patient.

Art has been used for thousands of years to successfully convey a message, whether it be a story or a glimpse into the human spirit. At Beyond the Diagnosis, we believe art not only leaves a powerful and lasting visual imprint but creates a unique connection for the viewer.

Visit www.beyondthediagnosis.org