By Matthew Santamaria (email@example.com)
Jessica and Charles King love each other with all their hearts. They want to share that love and have a beautiful baby to care for each and every day.
However, they have a challenge in order to have that beautiful child in their life. Jessica and Charles want to break the family cycle of 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.
They first learned about the disease in 2013 on Christmas Eve when it was discovered that Charles’ mother, Barbara, was diagnosed with HD. After taking some time to make their decision, Charles and his brother Stephen decided to be tested for HD.
Each 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 30,000 symptomatic Americans and more than 200,000 at-risk of inheriting the disease. Each year, 5-10% of at risk patients get tested.
Charles and Stephen found out that they each tested positive for the HD gene and will inherit HD.
In 2016, Jessica and Charles wanted to start a family. The Kings did not want to pass HD down to the next generation as they had to pursue their options in order to start a family.
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.
However, they chose to terminate the pregnancy once it was determined the child would be HD positive.
They would look for another option. Pre-implantation Genetic Diagnosis (PGD) testing can be used with In Vitro Fertilization (IVF) that makes sure any fertilized egg implanted does not have the abnormal gene. For HD families considering this, it can be a very costly procedure. However, that was not the main problem for the family.
“Some tests showed that I am a poor candidate for IVF, though it doesn’t affect my chances at conceiving naturally,” said Jessica.
The Kings would attempt sperm donation. This is when donated sperm can be used when the father has or is at risk for HD. This can be donated anonymously or by a friend/relative. Jessica did get pregnant but she ended up having an early miscarriage.
Their next option was adoption.
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 placement process varies by country of origins. They decided to go through adoption within the United States.
Jessica and Charles were matched with a birth mother, present at the birth, cut the cord, and named the baby, but then…the birth mother changed her mind.
By now, the financial and emotional toll on Jessica and Charles was significant. They decided to once again try and this time conceived naturally.
However, this did not came back in their favor. “Unfortunately, the baby was HD positive and we chose to terminate our second HD-affected pregnancy,” Jessica explains. “Even though termination is by far the most difficult thing we have ever faced, we 100% believe we did the right thing. Selfishly, all we wanted was to roll the dice and continue the pregnancy— especially after so much loss.”
As the family continues to try and grow their family, Jessica and Charles continue to raise HD awareness. She is HDSA’s Georgia Chapter President and is sharing her story with others in the HD Community so that HD families know that there are options when planning your family.
For more information about family planning, please click here
Jessica has a message for the HD Community:
“Having been in the situation twice now, I want those who are considering termination for a gene-positive pregnancy to know they are not alone. Huntington's Disease is isolating enough without the judgement of making such a heart-wrenching decision.”
Thank you Jessica and congrats as she recently announced she is pregant with her first HD Free child
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. Each 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 30,000 symptomatic Americans and more than 200,000 at-risk of inheriting the disease. The symptoms of Huntington’s disease are described as having ALS, Parkinson’s and Alzheimer’s – simultaneously.
The Huntington’s Disease Society of America (HDSA) 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.