Earl's Story

How my family went from having an undiagnosed rare disease to a rare disease with a name.

Written by Rachelle, published 2 months ago.

I met my wife, Sandy in 1964 she was 17. She and I married shortly thereafter. At that time there was no knowledge of the disease, or signs of the disease.
In 1985 Sandy’s older sibling began showing signs of the same condition that affected their fa- ther and grandfather. At the time the sibling came to live with us and it was at this time we be- gan going to a genetic clinic, at UC San Francisco, trying to get some sort of answer. In the end we knew only that it was a neurodegenerative disease, autosomal dominant. Nothing was known about it and it appeared there was no history of it anywhere else in the country. Sandy’s sibling died in 1990 at the age of 46 at the time of death, the individual was no longer able to communicate, had serious dementia and was bedridden.
During the process at UC San Francisco it was discovered that Sandy had hearing loss and loss of feeling in her lower limbs. Early signs of the disease that we really had not noticed.
However over the next few years it became apparent Sandy was affected as her condition be- gan to deteriorate. Eventually she was unable to walk, and hearing and speaking became more difficult. Dementia set in and she died in 1997 at the age of 50.
In Sandy's case the disease took its full course, and she died after a complete shutdown of her bodily functions. Sandy was 50.
I was told early on that autosomal dominant meant 50% of all descendants affected people could be affected. So I was bracing myself that 2 1/2 of my offspring could be affected. It was my two middle children David and Lisa that began showing signs.
David began showing signs of early onset dementia, and hearing loss in his late thirties. He was unable to hold job, and had to come and live with me. The rest of the family knew this time what we were dealing with and what was to come. But even with this knowledge, trying to talk to doctors was impossible. I would walk into their office with a stack of papers. They would thumb through them looking for anything that had a doctor's name on it and ignore the rest.
In the meantime David's Sister Lisa, 11 months his junior, began showing clear signs that she too was affected. Lisa, through her medical insurance, was sent to Kaiser genetic clinic where a geneticist took an interest in her case, and sent her genetic information to a clinic in Southern California for testing.
At the same time David was referred to UC San Francisco for neurological testing. At UCSF the geneticist who was at looking at David knew of Dr. Christopher Klein at the Mayo Clinic and his work with a genetic condition similar to our families. Dr. Klein agreed to test David to see if it was the same disease he was working with.
Almost simultaneously Lisa and David received genetic testing results which confirmed the mu- tated gene. And with that we had a diagnosis and a test. Heredity Sensory and Autonomic Neu- ropathy, Type 1E. Lisa lost her battle with HSAN1E in 2015 at the age of 48. Eleven months lat- er David lost his as at the age of 49 in 2016.
After the diagnosis, there was a sense of both relief and helplessness. Knowing that we are not as alone as we once felt has been a great relief. But there is still a lot of work to be done. Com- munication and the sharing of information will be the key to filling the gap between the different
doctors and groups of patients, so that no more families and patients don’t have to suffer with the unknown. Through our nonprofit, HSAN1E Society we hope to create awareness and sup- port for this devastating disease. You can find more about HSAN1E and HSAN1E Society at https://hsan1esociety.org/

Written by Rachelle, published 2 months ago.

One comment for «Earl's Story»

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  • martacampabadal | published about 1 month ago | Originally written in English

    Hi Rachelle,

    This is a heartbreaking story... I'm so sorry for everything your family has been trough.

    I hope this online community will bring support to others who are isolated and feel helplessness.

    Do you know if there are other HSAN patient organisations out there? We'd like to invite them to participate to this community.

    Thanks,
    Marta

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