Testing, my own personal roller coaster ride from .....

I am writing this in Mid October of 2007. Six years ago at this time I had a new baby who was just a couple of weeks old. I had decided to be a stay-at-home mom, and life was going great. I had never heard of Huntington’s disease and to my knowledge we didn’t have any medical issues in our family. Little to my knowledge, this turned out to be the time my life was about to take a roller coaster ride that was the most frightening ever. With more turns and spins than I would have ever imagined I am amazed that I have developed the inner strength and determination to set goals for myself and face each day with optimism and gratitude.

In November of 2001, my father was arrested for child abuse of his adopted and foster kids. Now my dad was always a hard disciplinarian so looking back I still didn’t believe or even consider there was an underlying cause for his behavior. I just figured that time had finally caught up with him and he needed to “step up and realize” that his form of discipline crossed over the line and was abusive.

During the next year, my step mom left dad. He became very violent toward her and she feared for her life. We became more aware as we spoke of the issues that dad had been changing over the past few years. His walk was different; it took extra effort to move one of his legs forward. He had always been a great public speaker as he was a minister for 30 plus years. We noticed that his train of thought just wasn’t there any more. We came to believe that there were other reasons for his difficulty walking, his explosive outbursts and declining cognitive abilities and he needed to seek medical guidance.

After the separation dad lived with my brother. My father currently resides in a nursing home since fall of 2003. We had him tested for about everything other than Huntington’s, such as a stroke, Alzheimer’s, etc. Then the neurologist one day mentioned Huntington’s to us. So without any knowledge of the disease or its genetic implications, he was tested.

The test came back positive. The doctor who gave my brother and me this information did not give us much information as to how this would impact us or our families. We left with knowing that dad had a genetic disease called Huntington’s and there is no cure. We did not know to what extent this disease would affect the rest of our families. This knowledge came in the next few months as my brother and I researched the Internet and spoke with anyone who had experience with HD.

I immediately, once knowing the ramifications for myself, called my primary healthcare provider and said “I need to be tested.” He directed me to a genetic counselor. He advised me to pay for the testing on my own to preserve confidentiality and to avoid risking discrimination for future employment and insurance coverage. He also agreed to take our conversations out of my medical file. He now has a “special color code” for me that reminds him to check on my status.

My husband, a wonderful man, but with life spinning right now—new baby, my dad having HD, and other issues in his family—felt no need for me to be tested. I, on the other hand, being straight type A personality needed to know-because if I didn’t, it would drive me crazy!!!!!!!!!!!!!! Every time I would fall, slip, or drop something I would wonder if this was a symptom or not... My other family members also saw no need for my testing. Consequently, it took all my energy to convince them of my need to be tested.

I got in touch with Kathy, my genetic counselor. She began the testing process. I hated every step. All I wanted them to do was draw my blood and give me a result—but instead I had to endure a neurological exam, a counseling session to see if I was at risk to kill myself. Looking back it was all good and I needed it to prepare, but for Gods sake, I wanted it done!!!!!!!!!}. Finally I passed everything, they drew my blood, then the waiting game really began---do I have it, don’t I, maybe I do, what if, etc. etc. In that time I also became pregnant. About a week prior to my results late Oct 2002, I took a pregnancy test, oh my—it was a positive! Now even more thoughts………what do I do about this situation? The roller coaster was going faster than ever now. I was nauseated most of the time and had no way of putting into words what I was feeling so I was truly unable to ask for help.

A week after my home pregnancy test, we went to the office of my genetic counselor and got my positive HD gene test. Both my husband and I cried. Then my husband looked and me and then said “Are you going to tell her the rest?” I said “NO” I had already decided the rest. Most would find my decision cruel, but I had decided on my own that if I tested positive, my unborn child would be aborted. My husband ended up telling Kathy I was pregnant, and we spent time talking about what this meant to me. One of the options she gave me was to have a CVS. Since my husband was dead set on this – I got with my physician , and with his help and due to my age the CVS could be done with out alerting insurance companies of other issues but the genetic testing for HD to be done out-of-pocket, of course. This would tell if my unborn child was to carry the gene or not. So for us the cost was well worth it.

We did the CVS. I believe that day was worse than my entire testing process. The CVS had to be done 3 different times. After the second attempt to retrieve the cells, I was done! No more, I said. The poking the prodding, the emotional torture I was going through had to stop. I was ready to give up and call the clinic. But the doctors finally got the sample they needed on the 3rd try.

Then the waiting really begins. It takes a few weeks to grow those cells. I already know my luck. I carry the gene, and so {I expect} will this child. I had the clinic on speed dial waiting to hear. It took forever, or at least, in my thoughts, to get the result. Days turned to weeks and I just knew that if the test didn’t come back soon, there was no reversing this unplanned pregnancy and I was going to have to carry an HD baby to term knowing full well that he had the gene predicting his fate in life.

Then on another November day I got the call from Kathy. “You are pregnant with an HD free little boy!” I think she expected me to sing or shout with joy but all I could do was sit in silence. I was stunned and could not believe what I was hearing. And at that point, since the roller coaster hadn’t ever slowed down for me, I didn’t know if I was happy or not. Everything still was spinning.

I made it through the next few months of pregnancy and gave birth to my last child in June of 2003. We named him Jonathan. If you look at the baby name books, Jonathan means a gift from God. I am not a spiritual person, but for some reason, I believe God played a huge part in bringing him to us.

It took me a good year to connect with Jonathan. Every time I looked at him for some time I thought of dad, of HD, of my gene positive result. But now, 4 ? years after his birth, he is a normal part of our life. I no longer look at him and think of my HD journey. He is my son. We go to the park, swing, collect rocks and catch frogs, things “normal” families do.

Today in the fall of 2007, the roller coaster is at a glide: I am gene positive. I do not know the gene status of my oldest son, nor do I know the status of my niece and nephew. But what I do know is—I tested and had an awesome support system during that time and still do. My physician, my genetic counselor, my friends, and family. I have come out strong. I am now involved in research projects, fundraising, public awareness and peer groups. I know the road ahead is going to be long and hard, but if I continue my efforts, keep my self-healthy and mentally strong I will endure and so will my family.

This year in November when Thanksgiving in the USA is celebrated, I will not only thank God that I live in the Land of the Free where the Pilgrims and Indians feasted together. I will for one thank God that my physician calls in a prescription for Wellbutrin {LOL} with out asking questions, and I will thank God for an almost uneventful, except for only some minor bumps, year, and I will thank God that I know my status. Knowing my status has given me a reason to continue to live and to live a better life than I would have. Today I do spend every day with my kids knowing that I may miss some of the tomorrows. I really hope when they look back they will know Mom did every thing possible to stop this dreadful disease, but Mom also did everything possible to make their childhood fun and as happy as could be with or with out HD.

I write this knowing that HD testing is a big decision. For me it was a “must do”. There was no choice. When you decide to test you need to be aware that whether the test comes back positive or negative there are ramifications. With a positive result you have the rest of your life questioning everything, and deciding what you are going to do with that positive test result, such as whether to participate in research or clinical trials, engage in fundraising to advance research and/or provide services for families living with HD. For me I can have bouts of depression at any given time. With a negative result comes survivors guilt, and wondering why did I escape this fate? I am glad I got tested and would never change that decision, but each person needs to decide on their own whether testing is for them or not. The roller coaster goes very fast at times, with emotions running to every extreme, but in time it does slow to a manageable glide.

It’s not a ride I would wish on anyone, but if you find yourself in the position, please know this is a Roller Coaster Ride you cannot ever get off. There will always be spins and twists but with the support of family, friends, medical professionals, counselors, internet groups, and peer groups you can have some glides where life looks okay and most times, you can look at life as what it is---Life—and most of the time its pretty darn good.

DCB