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WHAT IS HUNTINGTON DISEASE?

 

Huntington disease (HD) is an inherited brain disorder. HD causes cells in parts of the brain to die: specifically the caudate, the putamen and, as the disease progresses, the cerebral cortex. As the brain cells die, a person with Huntington’s becomes less able to control movements, recall events, make decisions and control emotions. The disease leads to incapacitation and, eventually, death (generally due to other health complications).

 

WHO GETS IT?

 

Huntington disease is a genetic disorder. The HD gene is dominant, which means that each child of a parent with HD has a 50% chance of inheriting the disease and is said to be “at-risk”. Males and females have the same risk of inheriting the disease. Huntington’s occurs in all races. Symptoms usually appear between the ages of 30 and 50, but the disease can appear in children or seniors.

 

SYMPTOMS

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• Emotional turmoil (depression, apathy, irritability, anxiety, obsessive behaviour)

• Cognitive loss (inability to focus, plan, recall or make decisions; impaired insight)

• Physical deterioration (weight loss, involuntary movements, diminished coordination, difficulty walking, talking, swallowing)

 

There are significant variations in symptoms, and not every person will have all the symptoms to the same degree. Symptoms also vary with each stage of the disease.

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GENETIC TESTING

 

Since 1986, genetic testing for HD has been available; however, a direct test for the disease was developed in 1993. This means people who are at-risk for Huntington’s or who believe they have the symptoms can take a blood test to determine whether they have the gene that causes HD. Many people at risk choose not to take the test. It is a personal decision and varies from person to person as there is still no treatment to prevent HD from developing if the gene is present. Others make the decision to be tested so they can make arrangements as far as careers, family planning, and other issues are concerned. Anyone considering taking the test should have genetic counselling. This will ensure that the person understands what the possible outcomes could be, and whether the decision to be tested is the right one for them, at that time.

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FAMILY PLANNING

 

As of 2018, there is still no cure for HD. This results in those at risk making a very challenging decision about having children because if the parent has the HD gene in their DNA, each child themselves have a 50% chance of inheriting it. So, there is the chance that every child could have the disease, or perhaps none if conceived naturally - but it's a gamble and deciding whether you can live with the outcome is a personal choice and different for everyone.

 

Another option is Preimplant Genetic Diagnosis (PGD) through using In Vitro Fertilization (IVF) however; this is one of the most expensive family planning practices. Additionally, each province in Canada has different funding options, and some not at all, to assist in IVF-PGD. The cost of IVF-PGD can range around $40,000 and is worth doing your research on.

 

We used IVF-PGD for various reasons that were right for us. See my blog posts for our experiences and feel free to email and ask us more!

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RESEARCH      

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Information gathered directly from: www.huntingtonsociety.ca