What I Wish in the New Year for Rare Disease Patients


There are many serious issues patients with rare diseases face. Unfortunately, science has not caught up to most of us, but that does not mean patient lives can’t be improved. This is my 2018 wish list for patients fighting rare diseases.

1) Educational/vocational training for patients with unique disabilities. While the education system is much more accommodating now than when I was in school, we are still lacking specialized career guidance. If you are blind, there are often schools for the blind, and there is therapy and training for many other conditions. However, I’d like to see this expanded. If you are severely immune compromised, I haven’t heard of a single program that can help train you for work without worsening your condition. Being financially stable is even more important if you have an expensive condition. I would love to see programs developed to help patients with primary immune deficiencies and other rare diseases learn the skills they need to operate home businesses, for example, so they can be safe from infection and still use their talents in a marketable way.

2) Access to treatment. Many rare diseases don’t have an FDA approved treatment. We need to do all we can to promote new treatments being developed, including keeping the orphan drug tax credit in place. We also need to improve reimbursements for off-label use of medications for patients with rare diseases. Often, these off-label medications are the only options available to patients. We need to do away with specialty tiers, and protect our sickest patients by not allowing any form discrimination when it comes to health insurance. People with pre-existing conditions need insurance. They should not have to pay more, and there should be no life time caps. Living with a rare disease is very costly on all fronts, so let’s not make it any more difficult to access the right care.

3) Fix the issues with the 21st Century Cures Act. I was an advocate for this bill, but it is making it harder for some patients like me to get in home infusions. As a person who gets weekly infusions at home to live, I can’t stress enough how crucial home care can be. Primary immune deficiency patients in particular may need home care to prevent them from getting new infections while they receive their life-saving treatments.

4) Earlier diagnosis. We still need all 50 states to participate in severe combined immune deficiency newborn (SCID) screening. Currently, we are four states away from that goal — Alabama, Nevada, Louisiana & Indiana need to get on board. Raising awareness (there are 300 primary immune deficiency diseases and over 7,000 known rare diseases) will also help so patients get diagnosed sooner, and have the best outcomes possible.

5) Genome sequencing. By knowing the exact genetic mutation of their disease, patients may be able to receive more specialized care and possibly avoid misdiagnoses. The more patients’ genomes are sequenced, the more researchers can also learn. Gene therapies may also be developed, and hopefully will become cures in the not so distant future. These scientific advancements are very exciting for patients.

Personally, I am looking into getting my genome sequenced in 2018. With three rare diseases and some symptoms that don’t yet have an explanation, I really want to know what mutations I may have. I am hoping that if I do have mutations that lead to a disease, that I will be able to avoid being misdiagnosed and mistreated for years, which is what typically happens with rare diseases. When the exact genetic defect is known, patients can match with researchers more easily. Besides cost (which seems to be coming down), finding the right specialist can also be challenging. I would love to see rare disease patients have better access to the testing they need. Eventually, when more gene therapies are developed, we will have to encourage insurance companies to pay for one-time cures, which will be very costly. However, for patients like me, it’s an issue I would be thrilled to face.

Here’s to a healthier 2018!

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Getty Images photo via Cn0ra


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