By Matthew Santamaria (email@example.com)
Amy-Jo Adams is a nurse and married to the love of her life, Matt. However, she learned at a young age she was told that her mother was diagnosed with the gene that causes Huntington’s disease (HD).
HD is a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain. It deteriorates a person’s physical and mental abilities usually during their prime working years and has no cure.
“My mum starting displaying symptoms of HD and it was my dad that had noticed after witnessing the changes that happened with my nan,” she explains. “My dad discussed this with my mum and she decided to have it investigated. Months went by with hospital appointments; my mum and dad had given me very little information at the time as I was around ten or eleven years old.”
The symptoms of HD are described as having ALS, Parkinson’s and Alzheimer’s – simultaneously. Symptoms include personality changes, mood swings, depression, forgetfulness, impaired judgment, unsteady gait, involuntary movements, slurred speech, difficulty in swallowing, and significant weight loss.
Before her diagnosis, her family did not know anything about HD. Amy-Jo was informed that her parents donated nan’s brain for research as she never met her before her passing. Her mother inherited the gene from her nan.
Every child of a parent with HD has a 50/50 chance of inheriting the faulty gene that causes HD.
“At this point, my mum and dad weren’t aware of the risks this placed on my mum as there was very little information given to my mum and dad at the time,” said Amy-Jo. “With the use of google, I soon became aware of the risk this placed onto myself and the internet became the best and worst thing for me.”
Once she was 17-years-old, Amy-Jo wanted to know her future with the disease.
The decision to get genetically tested is difficult to make. Each year, 5-10% are tested. It is never the right or wrong decision to be tested. There are people that see no benefit in knowing that they will develop the disease while others want to know in order to make informed choices about their future. It can take up to several weeks to receive your results from the genetic testing center.
“The main reason that drove me to undergo testing was so I knew the risk that my future babies would have,” said Amy-Jo. “The fear of not knowing was driving me crazy.”
A few months before her 18-year-old birthday, she tested positive for the HD.
“Initially I found this very hard, my husband was so supportive and came to every appointment with me,” Amy-Jo explains. “For me personally, it’s difficult caring for someone knowing your fate, it gives such a mirror-like feeling… you’re constantly thinking – will I be like this? Will people become frustrated with me? I do still struggle with this at times, particularly on mum’s bad days.”
Once she tested positive for HD, Amy-Jo carried on with life. She completed her nursing degree, got married, and purchased her first home. Then, she and Matt were ready to have children. They considered a few options for this.
Genetic testing would assist the family’s efforts in determining a positive or negative test result and can be performed on cells from chorionic villus sampling (CVS) and amniocentesis. A woman who is already pregnant can receive testing for the fetus with a CVS at 10-13 weeks. This includes testing on the placenta and the risk of a miscarriage is 1:100. For amniocentesis, beginning in the 15th week of pregnancy, testing can be performed on fetal cells from amniotic fluid. The risk of a miscarriage is 1:500-1:300.
“This increased the chances of miscarrying and also placed a huge dilemma on how we would feel if our unborn baby was HD positive,” said Amy-Jo.
Pre-implantation Genetic Diagnosis (PGD) testing can be used with In Vitro Fertilization (IVF) which makes sure any fertilized egg implanted does not have the abnormal gene. For HD families considering this, it can be a very costly procedure.
“Me and Matt discussed this for a long time but agreed that IVF-PGD would be the way to go for us,” Amy-Jo explains. “We felt that with IVF, it was the most responsible way of eliminating HD and for HD to end with me.”
In August 2018, they would visit a local genetics center and schedule their first appointment in October. In May of 2019, she started her first injections. Throughout the process, Amy-Jo blogged her journey. To view her blog, click here
“It feels like it’s taken such a long time to even get to this point but we're so excited for what’s coming.”
After a long journey, the couple decided to not continue with the IVF-PGD process and wanted to have a child naturally. In 2022, Amy-Jo and her husband welcomed their first child.
Amy-Jo has a message for the HD Community:
“You are not alone!
There is support out there and hopefully,
through blogging, I hope to inspire
and educate others about HD and
the options and processes are available to us.
Information is power and more awareness of the condition will hopefully lead to better care
and research opportunities!”
Huntington’s disease is a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain. It deteriorates a person’s physical and mental abilities usually during their prime working years and has no cure. Every child of a parent with HD has a 50/50 chance of inheriting the faulty gene that causes Huntington’s disease. Today, there are approximately 41,000 symptomatic Americans and 200,000 at-risk of inheriting the disease. In less than 10% of cases, juvenile Huntington’s disease (JHD) affects children & adolescents. JHD usually has a more rapid progression rate than adult onset HD; the earlier the onset, the faster JHD progresses. HD is described as having ALS, Parkinson’s and Alzheimer’s diseases – simultaneously. HD is characterized by a triad of symptoms, including progressive motor dysfunction, behavioral disturbance and cognitive decline.
The Huntington’s Disease Society of America is the premier nonprofit organization dedicated to improving the lives of everyone affected by HD. From community services and education to advocacy and research, HDSA is the world’s leader in providing help for today and hope for tomorrow for people with HD and their families.
To learn more about Huntington’s disease and the work of the Huntington’s Disease Society of America, visit www.HDSA.org or call 1(800)345-HDSA.
This is a story featuring a personal experience with Huntington’s disease. If you would like to have your story told please contact Matthew Santamaria at firstname.lastname@example.org