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Genetic Test

John’s Huntington’s Disease Test Results

On January 16, 2016, after a six (6) week wait for the results of John’s genetic test for Huntington’s disease, John and I sat anxiously in a patient room at HDSA UC Davis Center of Excellence holding hands. We held our breath as Dr. Wheelock gave us the answer we had hoped for.

John was negative!!!!! It was the happiest day of our lives!

At that time, it was only the second time I ever saw John cry. I was so happy it was tears of joy and not sorrow.

To tell you the truth, hearing his CAG count was surreal, almost dreamlike. After committing to a relationship in 1979 with John, marrying him in 1980 knowing he was at risk for Huntington’s disease, and living 39 years at risk, the tension I felt in my chest subsided.

Our daughter Vanessa Garrett

John and our son, Keith.

John’s negative test freed Keith and Vanessa, from having to live a life at risk like their father.

We Can Never Lose HOPE…

May is Huntington’s Disease Awareness Month. #LetsTalkAboutHD
Please consider making a donation to the nonprofit, Huntington’s Disease Society of America (HDSA) to help fund research, Centers of Excellence (HD clinics), local and online support groups, disability lawyer to help HD families with their disability claim and many FREE online programs/services to HD families across the U.S.

May 10, 2023 by crutcht

#LetsTalkAboutHD, Genetic Test

John’s Appointment To Test for Huntington’s Disease

John, Dr. Vicki Wheelock, and myself at the 2017 HDSA National Convention in Schaumburg IL.

On Friday, December 4th, 2015, John and I traveled to his appointment at HDSA UC Davis Center of Excellence to begin the genetic testing process for Huntington’s disease (HD). This Center of Excellence allows anonymous testing where you pay for the cost for the visit and lab work. At this time, it was approximately $1,000.00 for everything and when we received the bills in the mail, it only contained a number that had been assigned to John. Anonymity was important as we did not want John’s test result to find its way to our children, Keith and Vanessa.

It was a poignant time in our lives, as John and I would learn, in about six weeks, how many CAG repeats were on chromosome 4 that would determine if John would eventually have Huntington’s disease.

On the drive to the appointment, we both were quiet, lost in our thoughts. When we arrived and checked in, my heart was pounding in my ears and I felt light headed. I held John’s hand tightly, wondering what was going through his mind.

We were guided into a room, sat down and within a few minutes, Mara Sifry-Platt, genetic counselor entered, sat down introduced herself. She asked my relationship to John and asked if she could create a family tree of the Marin family. I had already created one and handed it to her.

Dr. Wheelock, director of the Center of Excellence, entered, talked with us about the decision to test, asked John to walk as she watched his gait. Then Dr. Scher, a Psychiatrist on the interdisciplinary team, came in and asked John to tell his HD family story.

The last thing to do was to go to the lab and for John to give his blood to be sent off and tested.

HD is caused by a mistake in the DNA instructions that build our bodies and keep them running. DNA is made up of thousands of genes, and people with HD have a small error in one gene, called huntingtin. Over time this error causes damage to the brain and leads to HD symptoms.

We Can Never Lose Hope…

May 3, 2023 by crutcht

Genetic Test

Are You Considering Testing for Huntington’s Disease?

Deciding whether to be tested for Huntington’s disease (HD) is a personal decision and a very, very difficult decision that will change your life. John was tested in 2016 and we are forever grateful that he did not inherit the mutated huntingtin gene from his mother. “The mutation that causes Huntington disease involves a DNA segment known as a CAG trinucleotide repeat . This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row.”