When asked about the key way that the medical field can better serve patients, Pari Schroeder doesn’t waver: multidisciplinary care. She acknowledges that the medical system can often be very siloed, preventing patients from getting the best and most comprehensive care. In her own family, Pari has seen this through the diagnostic odyssey for herself and her children. The Schroeder family has seen a number of diagnoses: eosinophilic esophagitis (EoE), postural orthostatic tachycardia syndrome (POTS), intussusception, Ehlers-Danlos syndrome (EDS), and mast cell dysfunction. Says Pari:

We need to have people looking at this as a whole. My children have multiple rare diagnoses, but I feel like these are all connected: a cluster. Nobody has done research on this specific cluster but these diseases are often seen together in the community. The rare disease community needs geneticists involved with specialists to speed-up the diagnosis and treatment process. 72% of rare diseases are genetic, so why do we have these centers that are not multi-disciplinary with a wide range of specialists? Ideally one would need a team approach with all specialists involved.

If physicians and researchers don’t study these connections, how can we find a cure? It is on the patients to put the pressure on to make these connections be heard, and I want patients to know that if they have one of these diseases and present with symptoms, they should get tested for the other.

Pari’s journey has made her into a passionate rare disease and disability advocate whose goal is to raise awareness of testing and resources for people within this community. She began advocating through CURED, a foundation which works to spur research, spread education, and support families affected by eosinophilic conditions. Through this, Pari has only become more impassioned about making a difference.

Recently, Pari sat down with Patient Worthy to discuss her family’s unique diagnostic journey, how they are doing today, CURED and its many resources, and the need for changes and collaboration within medicine.

Donovan’s Story

Pari and her husband have been married for fifteen years. In that time, they’ve had two children: Donovan, age 12, and Ariana, age 8. Pari had a rough pregnancy with Donovan. He was eventually born via C-section; he was breech and Pari had oligohydramnios (low amniotic fluid).

His hip dislocated during his initial newborn screening and, within the first year of his life, had frequent rashes and other issues.

When Donovan was around fifteen months old, doctors diagnosed him with intussusception, a rare and life-threatening condition in which the intestines fold. In intussusception, part of the intestine slides into an adjacent area of the intestine; this can cause blockages, infections, bowel perforations, and other health issues. A water soluble contrast or air enema fixes intussusception in a large variety of cases, but this condition recurs around 20% of the time. Donovan’s case fit into that 20%.

Concerned that this might be a genetic issue, Pari attempted to get Donovan approved for genetic testing. However, this request was denied by insurance. Pari shares:

Insurance denials become a part of daily life with rare diseases.

Donovan had severe abdominal and chest pain which radiated to his back. Testing showed that his gallbladder was functioning at just about 9%. After additional testing, surgery to remove his gallbladder, and repeat endoscopies, Donovan finally received a diagnosis of eosinophilic esophagitis (EoE). Pari explains:

EoE has only been recognized as a disease within the last 25-30 years. In EoE, white blood cells infiltrate the gastrointestinal tract as a response to food or environmental proteins.

Pari and Ariana’s Diagnostic Journey

Donovan received his EoE diagnosis within just several months of his sister Ariana’s birth. As Pari worked to learn more, she dove into research. She also began searching for a support group. Pari explains:

At this time, we were at a large-name institution in Houston and I couldn’t believe that there was no support group for this. It felt as if no one knew what EOE was. I was learning and the disease is very complex. I tried to join the allergy support group but it wasn’t as helpful because EOE is not like a typical IgE allergy. So I started writing to the social worker at the institution to launch a support group. With the help of other mothers, we were able to get this established.

But one day, in the endoscopy suite, Pari met another EOE mother who told her about online Facebook support groups. She felt at home as soon as she joined them. There were other parents like her who were stopping at nothing to get answers for their children. Between the groups and her own personal research (reading and re-reading scholarly articles, exploring medical terminology), Pari soon began to wonder if her children were facing other unknown diagnoses.

At this point, Donovan was five years old and Ariana was just twenty-three months old. Pari shares:

The more time I researched and talked in the group, the more apparent it became that both of my children also had mast cell dysfunction, autonomic dysfunction, and connective tissue disease. Connective tissue is essentially the glue that holds you together; your collagen. Ehlers-Danlos, a form of connective tissue disease, that causes faulty collagen resulting in multisystem involvement.

Normally, mast cells play a role in allergic response. They release mediators to fight infections or bacteria. Mast cell dysfunction occurs when mast cells inappropriately release mediators, which can cause life-threatening symptoms. Dysautonomia is dysfunction in the autonomic nervous system. For example, it may affect your digestion, heart rate, blood pressure, breathing etc.

Eventually, Pari became suspicious that her children—and most likely her as well—had Ehlers-Danlos syndrome (EDS). Although Houston is home to some top-tier medical centers, Pari knew that rare disease had limited resources and educated medical staff. She traveled to specialists in the field, to the Mast Cell Center of Excellence, to the Dysautonomia Center of Excellence and to other health institutions. Here, she was able to obtain testing.

This drive to find answers panned out. When Pari was in her 30s, she and her children were diagnosed with Ehlers-Danlos syndrome (EDS), mast cell activation syndrome (MCAS or mast cell disease), and a subtype of dysautonomia known as postural orthostatic tachycardia syndrome (POTS).

Join us in Part 2 as we discuss CURED, medical gaslighting and the need for medical improvements, and advice for other families.