Rare Disease Day (February 28, 2023)

 

February 28 is Rare Disease Day. Prior to Scott being diagnosed, I never thought about rare diseases. I thought of cancer patients and families as "those brave people fighting cancer." I never thought I would become one of them, never wanted to become one.

 

25% of all cancers are rare, as are all pediatric cancers. According to the NIH, nearly 10% of the population have a rare disease (https://ncats.nih.gov/news/events/rdd). Of the estimated 10,000 rare diseases, fewer than 5% have an FDA-approved treatment.

 

Last week a colleague reached out after her father was diagnosed with a metastatic rare cancer. She needed help navigating a bewildering medical system while processing the shock of the diagnosis. Below are some medical lessons I learned when dealing with a rare cancer:

 

- ***Get a specialist for a rare cancer if at all possible.*** This really is so critical. It may not be at your local hospital, but you can consult with other hospitals on treatment options and then have your local doctors administer the treatments. I once alerted someone on a Facebook support group that the anti-nausea drug she was prescribed and about to take (metoclopramide) can cause a hypertensive crisis for paraganglioma patients. Scott's endocrinologist (who had warned us against it) told us later that this could have saved her life. Only a specialist will know these sorts of details. 

 

- The patient absolutely needs someone to advocate on their behalf. Our medical team was world class, but they juggle a lot of details for many patients. Track the details, because no one else will. Initially Scott was misdiagnosed with a different cancer; I caught it buried in the pathology report one day before he was scheduled to start treatment for the other cancer. Scott was put on an alpha blocker to lower his blood pressure; I had to ask if we should take him off his other blood pressure med (the answer was yes).

 

- Don’t be afraid to ask questions and educate yourself on the disease. The doctors we worked with were all very open to us getting second opinions and talking through the reasoning behind treatment options. 

 

- Look for an organization that supports the rare cancer. For example, the Pheo Para Alliance has a Centers of Excellence program that helps patients know which hospitals specialize in this disease.

 

- Sometimes I felt like we would get caught in the medical system. I don’t feel like it was malicious, I think that sometimes the doctors just follow a certain script and most patients just go along with it even if it doesn't make sense in their case. If something doesn’t feel right, ask the questions and advocate for yourself or the patient if needed. 

 

- Understand the pros and cons of treatment options. For all treatments, ask about side effects, so you can monitor them and have a plan to address them if needed.

 

- Get a palliative care doctor appointment ASAP if you don’t have one already. Oncologists are notoriously slow to get palliative care involved and then it takes months to get an appointment. Many people associate them with end of life; they are really about quality of life and were wizards at troubleshooting Scott’s pain levels and weird treatment side effects. 

 

- Physical Medical and Rehabilitation (PM&R) was excellent for troubleshooting pain relief too. I had never heard of them before but they have injections and other pain treatments that aren't done by palliative care.

 

- Make a plan if the patient needs urgent medical care. For Scott, we were able to call the Hopkins oncology after hours line and get seen by their oncology urgent care center. This was WAY better than waiting hours at an ER each time.

 

I share this not to be a downer, but to let anyone fighting a rare disease know that you are not alone. I hope you never need to know any of this, but if you do, I'm happy to share my experiences or just be here for you.