I Never Imagined This

11728731_10207242883373435_1987070127507751484_oI Never Imagined This

Patricia Weltin

Most times when I’m in a room with Olivia and Hana I can feel the Ehlers-Danlos in their body. It’s like an energy. It is my enemy. I am watching Ehlers-Danlos. I have watched it take Olivia from a Division I tennis player to a wheelchair. I have watched Olivia’s joints dislocate and her teeth fall out. Now, I watch Ehlers-Danlos attack Hana’s joints and her autonomic nervous system. I have never had an enemy like this. Because my enemy seems indestructible, I am studying it, looking for a chink in it’s armor. This is incredibly hard to do because what you’re learning about the disease applies to two people you love more than anything. I don’t feel like I’m surviving. I feel like I am suspended in mid-air where the air is thin and I seem to always be gasping. I feel fierce and frightened at the same time.

Every person living like this is so, so much alike. I know them because I know me. We are from a place unimaginable. As an older first-time mom, I worried about the possibility of having an unhealthy child. I imagined all kinds of horrific scenarios, but I never imagined living rare.

As worried as I was, I did not imagine my children having a disease I could not pronounce and which most doctors never heard of. I did not imagine there would be no treatment for this disease. I did not image that 16 years later there would be another diagnosis for both my children of Ehlers-Danlos Syndrome. This disease also has no treatment. I never imagined.

No one should have to imagine this, let alone live it

Enough!

Mother prays for the health of seriously ill daughter.

Enough!

Patricia Weltin

In 1982, the beginning of patient activism for rare diseases began with Abbey Meyers and the founding of the National Organization for Rare Disorders (NORD). Ms. Meyer’s son had Tourette’s Syndrome and saw a potential treatment for her son slipping away because of the small number of people living with Tourette’s. Ms. Meyers and a group of rare disease parents worked to incentivize treatments for small population diseases through the Orphan Drug Act, which gave pharmaceutical companies tax credits and extended patent lives to make the development of rare disease treatments profitable.

Abbey Meyers was not afraid to speak out against opposition to the Orphan Drug Act. President Reagan was considering vetoing the Act. Ms. Meyers reaction was to send President Regan a note that read “Go right ahead and veto it. You don’t mind if we take out full-page ads in the Washington Post, the New York Times, and the Los Angeles Times, because that’s what we are going to do.”The Orphan Drug Act was not vetoed.

It has been over 30 years since the enactment of the Orphan Drug Act. Not until the last few years has there been a real interest by Pharma to create rare disease treatments. With the mapping of the human genome, the drastic reduction in the cost of whole genome sequencing, and an increase in research dollars raised by patient organizations, rare disease treatments have become popular. But how many of us have a treatment and how do we maintain this interest?

The truth is not as rosy as the numbers indicate. We have all heard that 5% of the 7,000 rare diseases have a treatment. The actual percentage is much lower. What about the hope of precision medicine? It is unlikely that my child or yours will see the benefit of precision medicine in our lifetime. Abbey Meyer’s work was extraordinary, not just in the US, but across the globe, but the work is not done. Not by a long shot.

Since I began advocating for rare, I have spent countless hours wondering how the 80 million people directly impacted by rare diseases continue to have so many unmet needs. Why are children still dying? Why are people suffering? Why are we still educating our doctors? I had to think back to the years when Olivia was first diagnosed. At first hopeful, I soon began to realize that no one was researching Olivia’s disease and no one likely would. Since things weren’t that bad for Olivia, I learned to accept that this was just the way things were. I believe many things have happened over the past 18 years that have led to my feelings of complacency.

I came to the place of complacency through the following beliefs:

1. There was someone else who could solve the problems of rare. This is absolutely the biggest lie I told myself. There is not a single umbrella organization out there that can stand alone and make the changes that we need. Over the past 30 years there have been other umbrella organizations that have entered the rare disease space, including Rare Disease United Foundation. Everyone working as an umbrella organization in rare has something positive to offer the community, but it still is not enough. Even if we formed one coalition, little will change. This space has become politicized. If things are going to change, a more radical approach needs to happen and that change will come from the patients and parents.

2. We live in the great United States of America. Our country would surely not let our children suffer and die. Aside from the NIH, which is woefully underfunded, the United States government has done little to nothing to protect our children and our loved ones. More money is spent on preventable diseases than we have ever seen spent on children, who through no fault of their own, were born with a genetic mutation that is causing them to suffer horribly and taking their lives. Coming to this understanding has made me feel disgusted, ashamed and deeply saddened.

3. I could not make a difference. Another huge lie I told myself. I can make a difference, just like anyone else. One day, I said to myself “Enough.” I came to Enough through a place of anger, but it is where I need to be. I have seen too many people suffer. I have seen too many children die. It is where everyone living rare needs to be. I hope my shout of Enough will be heard. If you hear it, ask yourself if you have had Enough. Whether you get to Enough from anger or you get there from sadness, you need to get there.

I have been reading a lot about the ACT UP movement created by AIDS activists. I am in awe that a group of people fighting intolerance, fear, hatred and ignorance stood up and said, “Enough.” The ACT UP movement’s list of wins is long. This group of like-minded people working to create change in a hostile climate forced the FDA to speed up the drug approval process, made the CDC expand the definition of AIDS, and pushed insurance companies for reimbursement of off-label drugs.

ACT UP is a perfect example of what the collective voice of rare is capable of doing. We share many of the same obstacles to treatments, but we do not face the hatred they did. We are not being heard. We are not being seen. My favorite saying is “What we allow, is what will continue.” Enough of what has been, it’s time for what should be!