Featured Story: FORGOTTEN HD POPULATIONS

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By ZOÉ CRUZ-GIL

 

For more than 14 years my relationship with Huntington’s disease (HD) has been one of the most important liaisons I have experience in my life. My mother, who has HD and is undergoing the final stages of the disease, has been my reason for never giving up my dream of a better future. As a daughter and caregiver, my every day consists of dealing with many unexpected situations. To be the caregiver for someone who has given all and accepted all during her personal journey with HD has been a difficult task, but also an empowering experience. I am so proud to be the daughter of a wonderful woman who has fought this disease with all her heart and strength.

When I established the Fundación Huntington Puerto Rico, a non-profit organization, my heart was in the right place. The HD community in Puerto Rico was an invisible population and very much underserved. The Fundación Huntington Puerto Rico is an affiliation between me and a public researcher and scientist, Dr. Sylvette Ayala-Peña, (both with distinctive expertise in HD). Together we decided to engage in what was going to be a really hard and bumpy road. With only two patients, my mother being one of them, we established the first support group in the island of Puerto Rico. After publishing an article in some local newspapers about the HD research in Dr. Ayala’s laboratory, a few families emerged as a magical advent. We only had one task in mind, and it was to identify all HD patients in the island that were unknown to us and everyone else. This was really difficult due to the general illiteracy about HD that pushed families into hiding, as they were convinced that nothing was going to help them. 

After encountering this scenario, we decided to start visiting patients at home, one by one, to identify their unmet needs. Contrary to other countries, there is no cluster of HD patients in Puerto Rico; rather they are located around the entire island. The main question was how to establish HD care for the patients all around the island of Puerto Rico. There was no genetic counseling or any kind of intervention to improve their quality of life. Multidisciplinary care was nonexistent, and no protocols for the management of HD patients were available. It was too clear that we needed to intervene with a very focused approach, tailored to our cultural idiosyncrasy. We found that most of our patients were prematurely bedridden, some at a very young age, without any quality of life. Therefore, our mission became to provide education and awareness, and to improve and maximize our patients’ quality of life. 

We transformed ourselves into strong educators about HD and fervent advocates of the HD community by offering radio and TV interviews, holding conferences at the universities, and recruiting volunteers, mostly students. We also targeted health professionals and the general population, inviting them all to become volunteers of the Fundación. This way, we also established local, national and international collaborations that allowed us to bring recognition, for the very first time, of the existence of a HD community in Puerto Rico. Also, our interaction with other HD organizations, such as HELP 4 HD, was instrumental for the establishment of Education Day, one of our most outstanding activities. How could we make HD care available to all patients? I knew I could make it work, and it was going to be the best way I knew how, based on my experience (and struggles) trying to cover for my mother’s unmet needs for so many years, and on my previous involvement in humanitarian work.

The most important component, from my point of view, was to get our patients to receive the basic care from a neurologist, a neuropsychiatrist, physical, occupational, and speech therapists, and a social worker. The idea was to get my patients to receive multidisciplinary care aimed at providing them a better quality of life. I started to procure healthcare professionals that were interested in getting to know HD better. Referrals are tailored to the patient needs and new protocols are been established for the care and management of HD patients. We have made this possible by creating referral cores that align and coordinate the key resources that provide accurate healthcare to HD patients. I was blessed with the kindness of some health professionals that were willing to help us, that became part of our local workforce, regardless of the conditions of our patients. For this, I am completely grateful. 

A strategic action was to visit our patients at home, and while doing so, we started to identify their necessities and to compile demographic information. Most of our patients have the government health insurance, so it has been a challenge to obtain the various benefits according to their unique necessities. Most of the HD families are from outside the San Juan metropolitan area, many from towns in the mountain area and others from the coast. Many of these patients don’t have transportation and most of the clinical visits are arranged by the Fundación. These are some of the realities we constantly face with our patients.

The social work that we do represents one of the main programs within the Fundación. Changing the way health insurance companies look at the specific needs of the HD patients, such as the approval of customized wheelchairs and coverage of specialized treatment for chorea, among many others, is one of our accomplishments. The Fundación Huntington Puerto Rico got two important governmental bills approved and signed into law benefitting the HD community. Still, HD is not yet considered a catastrophic disease, leaving in front of us another important task to accomplish. Almost three years after Hurricane María struck the island, there are still clear long-term needs in the HD community that require urgent action from the Fundación Huntington Puerto Rico. Right after the hurricane, we received a generous donation from the Huntington Study Group that allowed us to address the immediate needs of our HD families. Subsequently, support from The Griffin Foundation has allowed us to accomplish so many important milestones on a timely fashion, allowing us to advance our mission to ameliorate health inequalities among the HD patients. 

The Fundación Huntington Puerto Rico is the only organization serving the HD community in Puerto Rico, and has become the only place patients and families rely upon for support and guidance. More recently, because of the detrimental effects of earthquakes and the current COVID-19 pandemic, new needs have emerged, pre-existing necessities have been exacerbated. The need to address the long-term consequences of these is guaranteed in the HD community. We are working on developing novel approaches to deal with our new way of life. Through education and awareness campaigns, we have reached many milestones in advancing HD care by creating a unique relationship with our HD families, engaging a robust workforce of health professionals and volunteers, and changing the way people look at HD. 

Although there is a lot of work still to be done, and many new families are still to be identified and cared for, there’s no doubt that the Fundación Huntington Puerto Rico holds a very unique momentum. Unquestionably, we are working hard to take the Fundación Huntington Puerto Rico to a new level of service for the well-being of our HD community and the HD community in the Caribbean.

 

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