Below is a tribute to Elsie I wrote on behalf of the HPS Network for Elsie's service. As so many that wanted to be there in person could not, I thought I'd share it here. Here is what I wrote:
It is not necessary to tell the people gathered here that Elsie was special. Anyone who met her knew that about her.
Anyone who knew her, knew how rare she really was.
We, in the Hermansky-Pudlak Syndrome community, knew Elise because of the gene we shared with her.
We loved her, however, because of the person she was – a kind and generous soul who was able to look beyond her own circumstances and use her own situation to find a way to help us all.
For those who may not know what Hermansky-Pudlak Syndrome is, let us explain so that you might understand Elsie better. Hermansky-Pudlak Syndrome, or HPS, is a rare form of albinism. Only a little more than a 1,000 people are documented to have it in the entire world. At the same time, it is one of the most common genetic disorders among people of Puerto Rican ancestry. Elsie, as well has her brother Benny, had HPS.
In addition to albinism, HPS causes a bleeding disorder. It can also cause a digestive problem much like Crohn’s disease and pulmonary fibrosis, or a hardening of the lungs. This is why Elsie was waiting for a lung transplant.
Everyone copes with a difficult diagnosis in different ways. Elsie was one of those who coped by focusing on helping others. It wasn’t long after her diagnosis that she became an advocate for HPS.
The bleeding disorder of HPS is not picked up by standard tests for bleeding problems. Elsie quickly recognized how dangerous it could be for someone to have HPS and not have a diagnosis.
She felt so strongly about it that she overcame her own shyness or personal discomfort to approach complete strangers she saw who looked as though they might have albinism.
Her gentle spirit allowed her to make them aware of HPS while at the same time not frightening them so much that they wouldn’t seek testing.
Having such a rare disease brings with it special challenges. One of them is isolation. Elsie worked to try to overcome that isolation by bringing people with HPS together. She understood that despite the best intentions of the most well-meaning people, sometimes the only one who can understand you is someone who is walking in the same set of shoes.
Elsie reached out and made friends with HPS beyond Orlando. She reached out to people with HPS in Puerto Rico, all over the United States, and indeed around the world. She spoke with them often, offering encouragement and sharing wisdom. She helped the newly diagnosed learn about living with HPS and freely shared her experiences in hopes of making the road easier for others.
Even in the last few weeks of her life while in the hospital and working so hard to breathe, she offered advice and encouragement to others with HPS trying to be listed for a lung transplant.
Elsie also understood that if people with HPS had any hope of getting a diagnosis, there had to be a greater awareness of HPS in the medical community. She approached many local service agencies, physicians and hospitals hoping to make them aware of HPS. Even though she sometimes felt intimidated by the process, Elsie always kept up her efforts because she believed so strongly in what she was doing.
Elsie was a trail blazer in the HPS community. She was the first patient to volunteer for a phase III clinical trial of a potential treatment for the pulmonary fibrosis of HPS. She was also the first person to be admitted to that study.
Of course she hoped the treatment would work and help her, as well of all of us with HPS. Still, for Elsie, it was more than that.
Elsie was committed to science. She freely gave of her time for years to travel to the National Institutes of Health to allow the doctors there to study her. She knew the drug trial might not work. She knew that if the doctors learned anything from her efforts, it might not come in time to help her. She did it, however, because she saw it as an investment in the future. She did it to help future generations of those with HPS, not even born yet, have better treatments and maybe even someday, a cure.
Even to the end, Elsie was investing in the future of people she would never know or meet. She made previsions for her lung tissue to be sent to the NIH and preserved there for future study. It isn’t the sort of thing everyone is able to do at such a difficult time, but Elsie did it because of the kind of person she was – always thinking of how to make something positive and meaningful out of the worst situation.
We in the HPS community are sad to lose such an advocate, but we are grieving because of the loss of such a friend. We are grieving because we lost the Elsie all of you know.
We knew Elsie because of the gene we share, but we loved her because of the person she was – someone who was kind to a fault, who took interest in the lives of others, who would give of her very innermost heart if she felt it would help someone. Elsie had an incredible sense of humor, could keep a confidence and was authentic to a fault.
She was a mom’s mom, always talking about and thinking of her children. She was a dear wife who loved Mingo beyond measure. She was a sister, a daughter and to so many, many of us, a most treasured friend.
The world is simply a different place without her.