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Advocacy: The Small Rock in a Big Ocean

Histiocytic disorders make up about six of the 7,000 rare diseases that exist today. When a condition is rare, it is unlikely that there will be federal funding to support research into treatments and cures. The treatments that are being developed for rare diseases are often forced into the requirements and timelines that treatments for larger populations of patients are held to. This can slow down development and make clinical trials difficult. There are also many socio-economic challenges that the rare disease community faces; whether it be related to health care coverage or costs, financial needs due to limitations with work or high costs for medical care, or the emotional weight of juggling life with a rare disease. Support for these challenges can be hard to come by.  That’s why we participate in advocacy.

Advocacy is defined as ‘public support for or recommendation of a particular cause or policy’. The role of advocacy in rare disease is an important one; it helps to ensure that policymakers and legislators know about challenges facing rare disease families, patients, and caregivers.  

EveryLife Foundation is a nonprofit organization founded in 2009 by Dr. Emil Kakkis, a renowned geneticist, to improve the lives of the 30 million Americans suffering from any of the approximately 7,000 known rare diseases. They help the rare disease community by educating and activating the patient community to ensure they are heard by policy makers in government and the healthcare industry. Each year, they open opportunities for training and support by scheduling meetings with local legislators and policy makers to present issues and bills for them to consider sponsoring.  

The Histiocytosis Association has taken part in these events for many years, and many of you have joined us in advocating for change! We participated twice this year, in the spring and again in mid-August. Leisa Greathouse is the mom to Histio Warrior, Samuel; Leisa has been very active in advocacy throughout her life and became especially passionate about evoking change for rare disease when Samuel was diagnosed with LCH(Langerhans Cell Histiocytosis).  Leisa is joining us in this post to share her experiences and perspective on advocacy, her histio story, and what the experience has been like participating in EveryLife Foundation’s Advocacy Week(s) – maybe it will inspire some of you to join us next time in your local state!   

Leisa Greathouse and Advocacy

My name is Leisa Greathouse. My relationship with histiocytosis is that my son, Samuel, passed away from LCH. I’m a retired Public Historic Interpreter, having spent 34 years with the North Carolina Dept. of Natural and Cultural Resources.  

Jim and Leisa Greathouse.  Well versed in advocacy for all those with histiocytic disorders
Leisa and her husband, Jim.

My son Samuel was diagnosed with LCH when he was 10 months old. For 16 months he endured harsh chemotherapy treatments, high fevers, spinal taps, long hospital admissions, approximately 200 blood, platelet and albumin transfusions, nearly 200 x-rays, a splenectomy, two liver biopsies, and many other tests. Samuel’s LCH became inactive, and he went on maintenance chemo. Our hope soared, and we thought the worst we had left to endure was several months of clinic visits to continue the maintenance of chemo. One of the spinal taps revealed that Samuel’s bone marrow had become fibrotic (permanent scarring of the bone marrow). The doctor told us that Samuel was 1 of only 10 children in recorded medical history to have this. The doctor further told us that in adults they know how to treat it, but not in children Samuel’s age. He was a year and a half old. A bone marrow transplant, it was decided, was his best chance for survival. The process of more tests and finding a donor began. From the bone marrow transplant registry, a 10:10 match (the best type of donor) was found. Just a couple of days before the transplant, Samuel’s bilirubin, liver bile, rose very high. The doctors said they could not transplant him unless his bilirubin was in normal range. Samuel’s bilirubin never went down to normal levels and died on Sept. 17, 2007, at the age two. 

In my teens, I was inspired by a woman named Candace Lightner. She is the woman who started the organization MADD, Mothers Against Drunk Drivers. MADD after her daughter was killed by a repeat offender. Mad is often how I have felt as a mother whose child had a rare disease and died. But when one thinks of all the effective legislation that MADD got passed that made our roads safer and holds drinkers responsible for their actions, I find what she achieved very important. I’m no Candace Lightner, just inspired by her determination to make our society safer and bring good for others out of the trauma and misery a family suffers after the death of a child. She has saved so many lives and her work epitomizes a degree of selflessness that is admirable. I sat in Samuel’s hospital room reflecting upon a refrain from the Superman TV cartoon I saw as a child. “Superman is here to save the day,” went round in my head like a song that plays in your mind on any given day. That is what I wanted. I wanted and needed someone to burst through the hospital room door and to say they are here to save my son’s life. Whatever I can do to contribute to such a thing happening for another parent one day, then that is the least I can do, and I hope it makes Samuel proud. My desire to advocate also has to do with the kind of person I wanted Samuel to be–someone who empathizes with others and shows love. 

Advocacy is part of a chain of events. It accomplishes awareness. How can any problem be addressed or solved if it is not known? To make it known, people must be aware of it. To make people aware, someone must advocate for it. Consequently, awareness creates interest in solving the problem. In this case, our problem is a related group of diseases that remain a mystery as to either the cause, cure, or both. When advocacy is omitted from the chain of events in rare disease, the medical profession is the only link in that chain. It’s written up in medical journals and doctors make other doctors aware, but in the rare disease community, a doctor may never hear of it, or if they do happen to read about it, it could be years down the road before they encounter it in a therapeutic setting. Advocacy for histiocytosis must be broader and go beyond the medical field. 

Making others aware of a need and the consequence helps fundraise for research or money that helps families in financially trying times. Advocacy also results in information. Information arms families and feeling armed provides them with the knowledge needed to make good faith and informed decisions about their child’s healthcare, or their own. 

“You have heard it before, but it’s true: many voices are louder than one single voice. This is the power of advocacy. Using your voice, sharing your rare disease story, and joining with others to amplify the message, brings the needs of the rare disease community to the attention of local, state, and federal government officials.”

EveryLife Foundation

EveryLife has facilitated a way for ordinary citizens to lobby their Congress members. Being able to speak to our representatives in government about situations that affect our lives is one of the greatest advocacy opportunities anyone can have. I feel very fortunate to have participated in a few of them. When a child dies there is no recourse for bereaved parents. But taking the matter to Congress when they oversee legislating orphan products and have resources that can help save a child’s life is important. I would not have had the financial resources or the courage to do it alone. There is power in numbers and attending the advocacy weeks has made me a member of that larger group. In addition, the networking opportunities provided have paid off locally and in my state. Because of a person I met at the first advocacy week I attended; I have been able to be more involved on the state level where I participated in a state advocacy day. I have been able to contribute to advocacy initiatives on the state level through a coalition. 

We are so grateful for all the contributions Leisa has made and you can feel the effort making an impact by seeing progress: the development of quicker timelines for orphan drugs to receive approval by the FDA, more rare diseases making the newborn screening list, and clinical guidelines for rare diseases being developed. Sometimes, what may seem like a small rock in a big ocean can in fact make a big wave.