Christine Wright was an active, athletic, healthy mother of three. But in 2007 she started exhibiting strange symptoms that no one could give her an answer to. She was losing weight and muscle. She saw cardiologists, oncologists, pulmonologists, and hematologists to no avail. For two years she lived without a real diagnosis.
Finally, she received an answer: amyloidosis. Who uncovered the real reason for her ailments? It wasn’t any of the specialists she had seen. It was Christine’s own reading of a newspaper article about a woman who had symptoms which sounded like her own. This is a rare condition which results in a buildup of abnormal proteins. This buildup was attacking her heart.
She was treated with chemotherapy and a stem cell transplant. This therapy lasted for a decade, but sadly she relapsed in 2016. Her heart wasn’t able to stand another round of therapy and she passed away in 2018.
Christine’s husband Stephen remained an advocate for the condition and other rare diseases after her death. He didn’t want anyone else to face the experiences his wife dealt with, such as a hospital ringing her through a heart transplant process only to turn her away because they didn’t know how to treat someone with amyloidosis.
By the end of their experience, Stephen said he felt like he knew more about his wife’s condition than 99% of the entire healthcare community. He believes that a rare disease database could have helped his wife and so he became determined to help implement one.
State Rare Disease Advisory Council
The ultimate goal is to create a rare disease advisory council for the state of Massachusetts. They’re not the first state to create one, and hopefully they won’t be the last. New Hampshire, Pennsylvania, and Connecticut have these councils and other states are in the process of creating one.
This council would help to bring awareness, raise funds, provide patient support, improve early diagnosis and treatment options, and pool the collective knowledge on rare disease.
This hasn’t been a short process and it’s not over yet. Rare New England has been working for the last six years with state legislators to help make this council a reality.
Council members would be experts who have a sole focus on rare diseases. The problem right now is that there are many individual organizations working with rare diseases but there is no synergy between them. This fragmentation limits the impact they’re able to have. Massachusetts has many universities, institutes, hospitals, and research centers working on rare diseases. Improving collaboration between them is necessary to ensure patients are being provided every option.
A council would unify decentralized data and knowledge. This would improve ease of access to data. Additionally, it would simplify the field by providing standard definitions and treatment options.
Too often, like Stephen, rare disease patients and family members, are the ones educating their doctors and friends about the disease. They feel as if they’re alone in advocating for their needs. It shouldn’t have to be like this.
This council is backed by a bill waiting to pass the state legislature.
Advocates are optimistic that this could be the year the bill is finally passed. There’s been talk that the Healthcare Financing committee has been having positive conversations about the bill. If it passes this committee it will then move to the house floor.
You can read more about this bill here.