The following is advice for anyone considering testing for HD in relation to PGD. It was prepared by a layperson who went through the process, not by a doctor or counselor. The best resource for this decision is to contact your local HDSA Center of Excellence. Go to the HDSA website to locate a COE near you.
Testing for HD is a very difficult decision. Not one to move too quickly on. I contemplated the options for about a year and I had all the concerns that most people have. I worked with my husband and held his opinion in high regard. Being open & honest with him was the best thing I did for myself because he is the one who seriously helped me through the scary times. I'm not sure whether he would have been able to be my strength if we hadn't started out as a team.
STEP 1: Consider your personal foundation
When I was contemplating the decision, I first thought about my morals, my dreams & made a mental list of what I was sure of. I was sure that I WOULD NOT put a baby at risk. I was sure that I wanted to have children. I was sure that I could not personally abort a fetus that tested HD+ (which is an option through amniocentesis testing, but you have to be ready to possibly abort the baby).
STEP 2: Deduce your personal options
So my options were:
1. Get tested for HD & do PGD if I get bad news
2. Don't test & do non-disclosed PGD (so I wouldn't learn my own fate but I would ensure that my babies are protected)
STEP 3: Research your possibilities
Will my medical insurance cover it? Is there a good fertility center near my home? Do I have support from family & friends?
I researched the costs and I checked with my insurance to see under what (if any) circumstances they might cover all or part of it. I was told that they don't cover IVF for infertility. I fought and was able to get them to cover one attempt at 70%. (See the Insurance Help page for more information.)
STEP 4: Put all the above together and think about it for a while
I thought about the effects of testing - obviously if I tested negative for HD, I could move on. But what if I tested positive? Well, I could help my husband & family prepare for it. I could set up our finances so we were all taken care of. I could rigorously take supplements & do all the preventative things we've heard of. I know that these are all things that we can do even if we don't know our fate. But do we really do them? I wasn't taking fish oil or blueberry pills until the day I heard my result. The realistic side of me knew that it would take a bad result to kick me into gear (and it has).
As I did all these things and I talked more & more to my husband, the answer soon became clear. I was ready to face it head-on.
STEP 5: Make a Plan
So I started to put together a plan: my HD positive plan. It prepared me for all the things I would do if I tested positive. Take 2G of fish oil per day. Take 2 blueberry pills per day. Get involved in local HD groups for support & fundraising. etc, etc. I turned myself into a WARRIOR. I approached it like a battle that I am determined to win! Protecting my babies from the HD Monster is the greatest part of my battle.
STEP 6: Take Action
I went into action. I set up an appointment at my local Center of Excellence. I helped my husband to become more understanding of HD and how it could seriously affect my emotions. I told him how I needed him to be my support if this went badly. I talked to my best friends & taught them about HD and what I might need from them. Everyone wanted to help, especially as they learned more about HD. I chose to not tell anyone at work, for professional reasons.
Then I purchased life insurance and long term care. I checked my health plans and double-checked that I didn't miss anything legal that I would later regret. I asked for time off from work for the week immediately following my result. I booked a room at a luxurious resort & spa. I knew that if I got bad news I'd really need to be pampered.
STEP 7: Recover & Move On!
Then I got my result. Bad news. But I did have a low CAG (42) and that provided some relief. All my family & friends were very supportive. But over time as the conversations naturally changed back to small talk, I felt like the world was going on around me but leaving me behind. That was a tough "2nd wave" of grief. I saw a counselor and she helped me to understand that I actually was grieving and that I needed to be patient with myself. I'm sure this transitional period is different for everyone, but I would assume that having supportive people around who understand would help anyone.
As we started the IVF/PGD process, my remaining grief slowly gave way to incredible hope.
STEP 8: Be Proud & let your good decision heal your heart
Even after several years of positive living and wonderful blessings in my life, I still have personal, quiet fears about HD. I don't think it's possible to go through this test and not have it change your life. But any time I think about my HD+ status, I try to also think about what I have done for my children. And for me it’s worth it because I had the courage to protect my kids from the HD Monster.