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Haunted by Huntington’s Disease—and Fear of Passing It On

Very recently we had a case where the husband of a couple seeking treatment had strong indications that he carried a genetic disorder called Huntington’s disease. This is a fatal, debilitating disease that some describe as like having all at once Alzheimer’s, Parkinson’s disease and ALS (amyotrophic lateral sclerosis, or Lou Gehrig’s disease).

Equally disturbing is the fact that a parent with this disorder has a 50 percent chance of passing it to any children. This was exactly what the couple feared: that the husband, we’ll call him Jim, could father a child who might suffer later in life from this terrible, fatal disease.

Aside from passing the defect on to a child, the prospect of having the gene mutation that causes Huntington’s disease can be maddening. Unnerving fear that it will strike is constant, because if you have the mutation, you will suffer from Huntington’s disease one day.

But its symptoms don’t appear until after age 40. It starts with personality changes and progresses to forgetfulness, loss of speech, inability to walk, and so on until you are totally dependent on the care of others before you die from complications.

Jim’s father and brother carry the Huntington’s disease gene mutation. Jim decided not be tested for it since he does not want to know if he has it. And he has not yet experienced any telltale symptoms. But could he take a risk of fathering a child possibly condemned to this disease?

father and son

A test that erases all doubt

Jim and his wife did have an excellent option: IVF with preimplantation genetic diagnosis (PGD). And they took it.

Using PGD, an embryo formed through in vitro fertilization (IVF) is tested for genetic abnormalities before it is transferred into a woman’s uterus and ultimately lead to a live birth. PGD evaluates an IVF embryo for a single, specific gene mutation that one of the parents is known to have or that is evident in a parent’s extended family. In this case, Huntington’s disease.

Jim wanted the PGD test done without disclosure, meaning he did not want to know if any of the embryos carried the mutation because if one did, that would mean that he carries it. That was not something he wanted to know at this time. So the couple went through IVF with PGD.

PGD involves taking a cell sample from an embryo and testing its DNA for genetic mutation. If the embryo does not have the mutation and is a good candidate in other respects, it is implanted in the mother’s womb.

Fortunately, we had two normal embryos and transferred one into the wife. She is now pregnant and released for follow-up care to her OB/GYN. And they still have one genetically normal frozen embryo that can be used to have another child.

This terrible disease has now been eliminated from this patient’s direct line of descendants. None of his children have to be concerned about getting the disease because only a normal, mutation-free baby was conceived by the wife. For Jim and his wife, this is a great relief.

It’s also a great example of how IVF with PGD can help a couple have a healthy child. For prospective parents who suspect they may carry a genetic mutation they don’t want to risk passing on to their child, PGD is an option to consider.

There’s another form of genetic testing called preimplantation genetic screening (PGS). PGS screens for a wide range of genetic defects, not just a specific one as in PGD.

These tests don’t just ensure a child without a genetic birth defect, they dramatically increase the chances of IVF success. That’s because, depending on age and reproductive history factors of the parents, 35-85 percent of IVF embryos have genetic flaws that result in failed pregnancies due to implantation problems or miscarriage.

PGD and PGS can eliminate many of those failures.