Alpha Spirometers: Positive Impact in Puerto Rico

Wednesday, January 25th, 2023

Vitalograph has donated six Alpha spirometers to a rare disease clinic in Puerto Rico.

The HPS Clinic has a special significance to the country it operates in and has a mission to provide education and vital support to individuals and families with a rare disease called Hermansky-Pudlak Syndrome (HPS). Read on to discover how a conversation at an industry event led to an opportunity for Vitalograph to donate vital devices and raise awareness of this rare disease.

 

Hermansky-Pudlak Syndrome Puerto Rico Clinic
Hermansky-Pudlak Syndrome Puerto Rico Clinic Dr Enid Rivera and Hilda Cardona

The Breath Connection

Respiratory conditions are sometimes caused by underlying diseases, or hereditary disorders, that have a negative impact on pulmonary function. One such disorder is HPS.

At the American Thoracic Society 2022 International Conference in San Francisco, we met with Donna Appell from the Hermansky-Pudlak Syndrome Network and learned about the important work they do in supporting people affected by this rare hereditary disorder.

We had the opportunity to understand more about the challenges faced by people living with HPS and to find out how Vitalograph can support those people, particularly in Puerto Rico where HPS affects one of every 1,800 individuals. One in every 21 individuals of northwest Puerto Rican descent is believed to be a carrier of the HPS type 1 gene, due to a genetic founder effect.

A Rare Hereditary Disorder

HPS affects multiple body systems and includes bleeding and visual problems, and abnormally light coloring of the skin, hair, and eyes (oculocutaneous albinism). Other symptoms may include immune problems, lung scarring (pulmonary fibrosis), and colitis.

Pulmonary fibrosis is highly prevalent in three out of 11 genetic types of HPS, including type 1. This form of pulmonary fibrosis has a progressive course, is difficult to treat, and usually leads to a poor prognosis with a shortened life expectancy. People with HPS types 1, 2, or 4 who develop pulmonary fibrosis may eventually need a lung transplant.

Respiratory diagnostics and care form an essential part of the management of HPS, and access to professional healthcare services is critical to the detection, monitoring, and management of HPS-related pulmonary fibrosis.

Living with HPS

Living with HPS can have a daily impact on respiratory health, and for people living with the disorder, managing their daily respiratory health is an important part of managing the disease.

For me having HPS is like having your guard up all the time! You’ve got to be careful, from simple things like allergies to infections like RSV which could be life-threatening. It’s like walking on eggshells when it comes to your lung care.Carmen Camacho – Board of Directors for the HPS Network

When it comes to managing her respiratory health, she adds: “it’s all about being proactive, exercising, pulmonary rehab, wearing a mask, not smoking, and staying away from those to smoke! I want to keep my lung health as much as possible!” 

A Multidisciplinary Approach

The HPS Network was instrumental in engaging Dr. Jesse Roman, who established a cost-free multidisciplinary clinic, available to individuals and families with HPS.

The HPS Clinic is run in partnership between the Network’s physician medical experts on the island of Puerto Rico and the HPS Network. The clinic provides care from volunteer clinical physicians in pulmonology, gastroenterology, haematology, psychology, and dentistry.

At the clinic, medical histories are taken, and DNA testing is conducted. 6-minute walk test, Pulmonary Function Testing, Covid Testing, Pulmonary Rehab training, and health coaching are provided.  Medical students are also involved.

The clinic is facilitated by volunteer physicians in Mayaguez, Puerto Rico.  Medical space is provided free of charge and travel is provided for patients when needed.  It takes place approximately every three to four months.

Supporting the HPS Network and those living with Hermansky-Pudlak Syndrome

To support those living with the disease and further research into this syndrome, Vitalograph donated six Alpha spirometers to the clinic in Puerto Rico. These arrived in January 2023 and are being used to aid diagnosis and monitor respiratory conditions associated with HPS. Vitalograph will also use its position as a global leader in respiratory diagnostics to raise awareness about HPS among the wider respiratory healthcare community.

The HPS Network is a charitable organisation. You can help them continue their efforts to improve the lives of those affected by Hermansky-Pudlak Syndrome by making a donation to the HPS Network.

Discover More

Hear from two individuals who are at the forefront of seeking a cure and supporting those who live with HPS. Check out Vitalograph’s Exhale podcast Episode #37, featuring Donna Appell, Executive Director and Founder of the Hermansky-Pudlak Syndrome Network, and Carmen Camacho, MA, LSW.