"The personal experience is more difficult at times than the medical – financial stress, parental stress over diagnosis, next steps, insurance, the physical toll and the amount of time spent travelling to appointments, and of course, the stress over the future."
My father, brother (4 yrs old), and I (9 yrs old) were diagnosed with von Hippel Lindau disease (vHL) in 1990. Fortunately, our dad continues to be minimally affected – however, both my brother and I were affected by various tumors, at young ages.
Our lives have been impacted by surgeries and other elements of dissonance caused by life with a rare disease, but more importantly, our diagnosis led to numerous opportunities to live excellent lives and walk extraordinary journeys.
Dad had symptoms for some time which led to a craniotomy in Dec. 1989, followed by a biopsy of the resected mass. Shortly after, my mother noticed issues with my brother’s right eye and took him to see a local ophthalmologist. That ophthalmologist observed masses in the eye which, considering the mass recently removed from my father’s brain, was very likely von Hippel Lindau Syndrome; a disease which he learned about a few weeks earlier at a rare disease conference!
Once my father’s and brother’s tumors indicated this condition, we were all submitted for a variety of scans, exams, bloodwork, urine analysis, at specialized facilities both locally and in the nearest metropolitan area.
The experience was difficult at the time. It’s scary to be a child and subjected to the variety of medical procedures and observations, necessary to determine one’s condition.
Really though, the personal experience is more difficult at times, than the medical; financial stress, parental stress over diagnosis, next steps, insurance, the physical toll and the amount of time spent travelling to appointments, and of course, the stress over the future.
vHL is a disease affecting 11 parts of the body and causes recurring lesion growth so it’s basically always and for life.
I was patient number 34, globally, to participate with a drug in a clinical trial that is now available through prescription and known as Welireg. However, now that the drug is approved there are a variety of stories that follow all the old patterns – denial of coverage, high costs, etc.
Many vHL patients receive their diagnosis and learn quickly how few medical professionals know anything about the disease, necessary surveillance and treatment. I speak Spanish and English so not only have I always been able to communicate on my own behalf, I am also an advocate for the Spanish-speaking community and translator for the VHL Alliance. Economically, we have always strived to support each other as a family – we’ve remained close over the years; help each other financially and otherwise. It’s not easy; if you can acquire worthwhile insurance, affording it is a tremendous burden, even in times of relatively good health.
Insurance coverage has always been a complicated situation – vHL is a complex syndrome which affects a number of organs and requires one to see a variety of specialists. Insurance companies tend to make it difficult for our community to receive the appropriate coverage and approvals for the necessary scans, exams and general care for patients with this illness.
Shortly after our diagnosis, our mother started the VHL Foundation in 1990 and was acting president during the first few years of formation and fundraising, until it was taken over to become the VHLA in 1993. This was the inspiration for my later time spent working with patients and caregivers of all ages, participating in/run fundraising events and helped to facilitate a camp for children affected by brain cancer and other traumatic experiences (2008-2018).
Since 2018, I have been active with the VHL Alliance, as an ambassador to other patients, a voice in the community and recently have launched a podcast, Very Heroic Living, dedicated to exploring our experiences, navigating this illness and so many other difficult or traumatic life experiences.
Being an advocate is fulfilling in its purpose for others and a tremendous way to process one’s own experience with a rare disease.
