Building a Collaborative Research Network to Address a Rare Disease

Early June 2016

Chris had extreme leg pain off and on for about a month. Pain that came and went, creeping in slowly but sometimes with extreme intensity. Based on x-rays an orthopedist diagnosed a torn hamstring that was on the mend. We were sent home to rest and ice his muscles.

One Sunday Chris played in the pool for 5 hours straight and didn’t wince once. The following week he was fine so he went to soccer practice on Wednesday and swim team practice the next day. At 11:30 that night he woke up screaming in pain. Same leg. Same spot. Back again.

Late June 2016

We were on vacation in Greece. The pain started again, severe and intense and scary, so bad he couldn’t sleep lying down in a bed.  Desperate, we ended up in a Greek hospital… the local pediatrician was wonderful and recommended we fly home and see an orthopedic doctor as soon as possible…a terrifying flight home: No answers and a pit in our stomachs. Chris was in a wheelchair.

July 2016

We finally got the orthopedist to order the MRI. The MRI results were what every parent fears: “leukemia or lymphoma” and a referral to an oncologist.  After many invasive tests, the oncologist said it was probably not cancer.  We felt such relief, but we were left with no answers for all his pain. We moved on to infectious disease.

August 2016

The infectious disease specialist said they could not culture anything so they didn’t believe that Chris had an infection. Again, incomplete answers.  We were then passed off to rheumatology.  The frustration of not having any answers and our child still in pain was heart-breaking, isolating, and terrifying.

Based on the bone biopsy and MRIs the rheumatologists finally gave Chris a diagnosis: Chronic Recurrent Multifocal Osteomyelitis (CRMO often pronounced “chromo” for short).

The good news: it was not cancer; the bad news: very little is known about CRMO because it is a rare disease.

Being able to name a problem is step one to solving it. However Chronic Recurrent Multifocal Osteomyelitis (CRMO) is a rare, and predominantly pediatric, autoinflammatory bone disease thought to affect only one out of one million children and favors girls 4:1 over boys. Typical onset is between 7–10 years of age.

Chris at Take Your Child to Work Day at his Dad’s Lab

How did Chris end up with this disease? And what does a parent do about a disease that many clinicians have never heard of, and even the ones who have heard of it, don’t know how to treat it?

The two major challenges in rare disease research and treatment are (1) a significant lack of funding with a limited patient population and (2) extreme lack of awareness of rare disease within the medical community. These two factors make diagnosis in the clinic difficult, and even more so if the rare disease is a “diagnosis of exclusion” like CRMO. Because there is no clear diagnostic test, CRMO can only be diagnosed when all other mimicking diseases (like cancer and infections) have been ruled out. There are also no FDA approved treatments for the disease.

Sarah Theos is a senior client support consultant for Promega Corporation, and her son, Chris, has CRMO. This is their story.

In 2018, Sarah applied for a volunteer service award through the Promega In Action program, which gives Promega employees up to 40 hours off within a year to engage in charitable work. Projects range from work at local food banks or community centers to international projects to advocacy and foundation work. Sarah used her time to co-found the CRMO Foundation, with the goal of building a collaborative research network for patients, caregivers and researchers working on CRMO. One goal of the CRMO foundation is to improve the health and well being of patients suffering from CRMO by infusing rigorous scientific research with the invaluable lived patient experience. Sarah says that the Promega in Action award was the catalyst that gave her the dedicated time to focus on helping start the foundation.

This year the CRMO Foundation is one of 30 patient-led rare disease foundations selected to receive a $450,000 grant from the Chan Zuckerberg Initiative (CZI) Rare As One Program. One goal of CZI is to cure or manage all disease by the end of the century. This network will provide relationships and learning opportunities, enabling them to not only host the very first patient-led CRMO scientific conference, but to also support infrastructure to build a self-sustaining patient-fueled, productive research network. It is imperative to develop and support a network of scientists, patients, and clinicians dedicated to working together, sharing resources and biosamples, and striving towards the common goal of better patient outcomes.

In addition to organizing the research conference, the CRMO Foundation will expand their CRMO patient registry so that the community can get a more accurate idea of the prevalence of CRMO, cause of the disease, natural history, and potential diagnostic tools and treatment options. To raise awareness, Sarah worked with two other rare disease parents, Christina Loccke and Lindsey Bergstrom on a video for the 2019 NIH Rare Diseases Are Not Rare Challenge. They won second place and were featured at NIH #RareDiseaseDay.

What does all this mean for Chris? Well, it means that there is now a community of patients and families actively supporting research and seeking answers. Those who bear the burden of disease will always persist in their unshakeable motivation to dramatically propel the scientific research forward. Newly diagnosed families don’t have to feel alone and can find support and clinicians who are more familiar with the condition. Sarah says that Chris is not defined by his disease but has had to mature in a way that other kids don’t have to. Today, he is back to playing all the sports he loves and making his friends laugh while his parents continue their quest for answers.

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Michele Arduengo

Social Media Manager at Promega Corporation
Michele earned her B.A. in biology at Wesleyan College in Macon, GA, and her PhD through the BCDB Program at Emory University in Atlanta, GA. Michele is the social media manager at Promega and managing editor of the Promega Connections blog. She enjoys getting lost in a good book, trumpet playing, knitting, and snowshoeing.

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