By Matthew Santamaria (email@example.com)
Born and raised in South Australia, Mande Bellman’s family tree has been affected by Huntington’s disease (HD), a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain. It deteriorates a person’s physical and mental abilities during their prime working years and has no cure.
“More than thirty years ago, my great-grandmother, Ruby, started to show HD symptoms in her late seventies,” said Mande.
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.
Ruby had three sons: Kevin, Doog, and Desmond (Mande’s grandfather). Every child of a parent with HD has a 50/50 chance of inheriting the faulty gene.
Kevin tested positive for HD.
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.
Kevin passed away and has three sons that are at risk. Doog was never tested, but he passed away from cancer.
"My grandfather (Desmond) was never tested for HD but showed symptoms,” Mande explains. “He passed away at the age of 84-years-old.”
Desmond had three sons including Chris, Shane, and Michael. Chris is the youngest of the three.
“Not long after being tested, his wife left him, and had to move on and rebuild a life for himself along with his two daughters both in their early 20's, neither have been tested at this stage,” said Mande. “He is still working and driving at the moment but has started showing symptoms of onset.”
Shane has never been tested and has not shown symptoms. He has three children (two biological sons). Her father, Michael, tested positive more than thirteen years ago.
“At the time, I don't think I quite understood the severity of this disease until my dad started showing signs,” Mande explains. “First, it was little things like the dropping and smashing of dishes more often to his balance decreasing, his speech beginning to slur, and involuntary movements increasing with swallowing becoming harder. Now, he struggles with the stairs. When he is eating, he cannot be left alone while eating in case he chokes. He has to be thickened and there is now talk of a feeding tube being placed as he struggles to swallow without choking.”
Along the way, he lost his job of more than thirty years.
"He lost his license and his independence,” said Mande.
Through it all, Michael’s wife has stood by his side for more than forty years.
“She has done anything and everything she could to help not only dad but our whole family get thru this horrible time,” said Mande. “Her strength and perseverance after hitting wall after wall has truly been inspiring, and then to offer to move my uncle Chris in so she can help care for him if he were to get really bad is such a selfless act of kindness.”
Mande is one of three siblings at risk for HD. Mande was living with her partner at the time and they were discussing her future which included thinking about having children.
Their options included conceiving naturally as this would be an incredible risk for the child but genetic testing would assist the family’s efforts in determining a positive or negative test result.
Genetic testing can be performed on cells from chorionic villus sampling (CVS) and amniocentesis. If a woman is already pregnant, she 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.
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.
Adoption within the United States would allow the family to have access to the child’s history/medical background. There is also the chance of a possible relationship with the child’s biological family. However, the negative side is the waiting times may be long and laws/options vary by state.
International Adoption would provide limited access to history/medical information and the placement process varies by country of origin. They decided to go through adoption within the United States.
“With that in mind, I decided to get tested and in seeing me take these steps both my brothers thought it time to be tested also,” Mande explains.
Mande was the first one to be tested and waited a few weeks for her results. She was alongside her family.
“The wait was finally over, and I was about to find out if my life was going to change in a big way,” said Mande. “When the doctor came in with the papers and sat down in front of us my nerves were thru the roof. She read out the results and just like that a sigh of relief went thru the room. NEGATIVE. I couldn't have been happier knowing myself and any future children I were to have will never get this disease.”
As Mande was relieved, it was not over yet as her brothers were next to be tested. Both came back positive.
“The next few moments were a blur and then as the doctor opens an envelope those forever tormenting words,” Mande explains. “I don't really remember much else but being outside the hospital saying goodbye while trying to hold it together. It's not fair, we don't deserve this. If I could, I'd take this disease away from them and be positive so they could be negative and live a long healthy life with their families.”
Both of them are married with children at risk. The family is active in the HD Community as they take part in 3K, 6K, and 12K for the local HD Chapter. The family has raised more than $10,000 in events in the last few years.
In 2022, Mande gave birth to her first child.
Mande has a message for the HD Community:
“Don’t give up on yourself, on your loved one, on your situations...
especially if your loved ones have the disease. This is when they need you the most, and it’s hard to watch the person you once knew become someone completely different, heartbreaking even, but don’t let it beat you, keep fighting because if it wins that means we lost.”
Huntington’s disease (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 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. Today, there are approximately 41,000 symptomatic Americans and more than 200,000 at-risk of inheriting the disease. The symptoms of HD are described as having ALS, Parkinson’s and Alzheimer’s – simultaneously.
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.
HDSA was founded in 1967 by Marjorie Guthrie, the wife of legendary folk singer Woody Guthrie. Woody died from HD complications when he was only 55 years old, but the Guthrie family legacy lives on at HDSA to this day.
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