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What It's Like When the Chances Are 50/50 of Developing a Rare, Fatal Disorder

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This is the tale of two sisters, two sisters who grew up in the same house, with the same biological parents, and the same black cloud of a rare disease. The sisters grew up knowing they had a rare genetic disease in the family. They knew it was fatal. They knew it could be devastating, and after watching their mom deteriorate and die, they knew each of them had a 50% chance of sharing the same fate.

What they didn’t know growing up, was that their disease had a name, and a genetic test. In 2014, the sisters once again were faced with watching a loved one begin to decline. This time when they sought answers. They received a name, a test, and a decision.

Rachelle and Krista grew up knowing they had a 50% of possibly dying a terrifying death. They had watched it happen over, and over, and over again. It had come for their great grandfather, grandfather, aunts, uncles, cousins, mom — it was only a matter of time before it came for them. When it became apparent it had come for their brother and sister, Rachelle and Krista sought out to finally get answers. In 2014 those answers came through DNA testing, when it was revealed that the four generation family disease was hereditary sensory autonomic neuropathy type 1E (HSAN1E).

HSAN1E is caused by a mutation in the DNMT1 gene; it is an extremely rare hereditary neurological degenerative disease. The symptoms start to appear when the affected individual in their 30’s and is an aggressively progressive disease that will end in total mind and body failure within 10-15 years. Death for individuals affected HSAN1E usually occurs in the early 50’s. HSAN1E is characterized by a triad of symptoms:

  1. Hearing loss: Affected individuals will experience early onset progressive hearing loss until eventually the individual will become totally deaf. Individuals may benefit from the use of hearing aids and devices, but due to the progressive nature of the hearing loss, these devices will become ineffective.
  2. Dementia/Behavioral changes: Affected individuals will experience a marked decrease in cognitive abilities. Individuals may gradually experience the inability to multitask, or complete simple tasks. The individual may become confused or frustrated, causing them to withdraw. As the disease progresses the some individual may suffer from hallucinations, and erratic or obsessive behaviors.
  3. Peripheral neuropathy: Affected individuals will experience numbness (loss of feeling) or tingling in the hands or feet. Individuals may experience a twitching in the arms, legs, hands or feet.

While, there is no cure or treatment for HSAN1E, there is still the need for research to be done to find the exact cause of the mutation in the DNMT1 gene, and therapies and treatments. What is known about HSAN1E is that there is a genetic test.

This brings us back to our two sisters.

With the discovery of the name and the test, the sisters were now faced with one question: Do you want to know if you have the disease?

At the time Rachelle and Krista found out they could take the test, both were adults and neither were starting to show symptoms. This is where the tale of two sisters diverges. Like most sisters, Rachelle and Krista had very different ideas on many things, including whether they would or should get tested for HSAN1E.

For Rachelle, it was hard for her to think of a reason why she shouldn’t get tested. She couldn’t remember a time when she wasn’t worrying about whether or not she had the disease. Now after all the years of worrying, someone was standing in front of her with an answer, an end to the worry. It was a no brainer — why wouldn’t you want to take the test to answer the question once and for all?

On an even deeper level, Rachelle wanted to go out on her own terms. After watching her mom deteriorate and eventually pass away from HSAN1E, she decided she didn’t want her or her children to go through the same thing she did. Rachelle was determined, she would take the test and she would plan accordingly. Rachelle knew the impact it would have one her family, and if she could take steps to alleviate the pain and the stress, she would do so now when she was still in the right mind to do so. A positive result would have been devastating, but she needed to know. Without hesitation, Rachelle took the test and waited six long weeks for the results. She was negative. And like that, the black cloud lifted.

For Krista, it was different. She had already spent her entire life coming to grips with the lack of control over her destiny. She had already resigned herself to take whatever was waiting for her one day at a time. Each time her foot twitched, or her words failed her, she wondered if it was the disease, and so as a way to cope, her internal mantra became “if you’re sick, just live each day as best you can, until you can’t anymore.”

When faced with the decision to take the test, Krista preferred to live with uncertainty. Rather than take a chance, and have to live with a positive result, she decided to decline the test.
Krista turned 40 recently and is still healthy and shows no signs of HSAN1E. When her big toe twitches, or she misses a word here and there, she is still left to wonder if that black cloud is going to open up, whereas Rachelle feels the twitch of her toe, or pangs of memory loss and she can remind herself that it is all part of growing old.

What Rachelle and Krista do have in common is the desire to reach out to other families that are suffering with HSAN1E. After the death of their sister and brother, the sisters co-founded the nonprofit organization, HSAN1E Society. Their organization is aimed at raising awareness of HSAN1E, connecting and supporting individuals and families affected by HSAN1E, and helping facilitate research through education and contributions. HSAN1E Society has a constant need and desire to find tenacious scientists, researchers, and medical professionals that want to be part of helping find the cause of the mutation, treatments, therapies, and just maybe one day — a cure.

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Originally published: February 15, 2018
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