Testing and Resources for Patients

A diagnosis of Huntington’s disease is life-changing.  Because there is no cure, and the disease cannot be stopped or slowed down, there is a relentless march toward the inevitable end:  the person with Huntington’s will eventually be totally disabled and will die from complications of the disease process.

We adopted our son knowing that he had a 50/50 chance of inheriting the fatal gene.  After consulting with doctors we decided not to have him tested as a child.    I think that was the right decision.  We pushed Alan to achieve far beyond what was expected of him.  Honestly, we put the possibility of Huntington’s out of our minds and thought very little about testing until we began to see signs that something was not right. 

In all the literature I have read, most experts agree that this is the best course for children who are living at risk.  It is unnecessary to burden a child with the sure knowledge that he or she will develop this cruel disease.   As adults, they can choose to be tested before symptoms develop, or they can wait until they feel they need to find out because they are symptomatic, or because they are planning a family.

Our situation is somewhat unique since we do not have to be concerned with other family members developing HD, and also because our son’s medical history is complicated.  With developmental delay and a seizure disorder, the drugs that can be used to treat the cognitive and psychiatric features of HD are limited. 

So we are again walking along a road for which no one seems to have a road map, and for which we have no frame of reference.  The only exposure Kenny and I have had to Huntington’s is what we have read, and the horrific you-tube videos we found while we waited for test results.  The best information we have received is from the HDSA website and from the Huntington’s Disease Facebook page.  For anyone seeking good information and the support of others on this long, sad journey, these are the best places to start. 

After diagnosis, we ordered the book featured on the HDSA site.  When ordering, families are asked to input the doctor’s name and patient information.  The family/patient and the doctor will both receive a free copy of A Physician’s Guide to the Management of Huntington’s Disease.

If you are researching HD, you will find little in the way of books to read, but there are a few gems.  Huntington's Disease: The Facts is a great book with unemotional explanations of genetic factors, and symptoms.  There are a few others, and you can find those through a Google search.