This is the story of my battle with HD. I am a WARRIOR and I will do what I can to fight this terrible disease. I am a mother and I believe that it is my responsibility to protect my children. That is why I chose to take on this challenge. This is my story of hope. Hope for my mother, hope for me, hope for my children, and hope for a cure.
When I was a child my maternal grandmother, Jayne, had HD and rode in a wheelchair. Gramps used to joke with her and make her laugh about it. Their home had stability bars installed everywhere and a ramp up the front steps, but it didn’t matter… she was my Grandma Jayne and that’s all that was important to me. My family knew that HD was genetic and that we could all possibly have the affected gene. There was no controlling the genetics of it in the 1970’s. I absolutely agree with my parents’ decision to go ahead and have children.
When testing became possible in 1993 Mom asked if we thought she should test. We all agreed that if she tested there was nothing positive she could do with the results and therefore it could only do harm. More time passed and my Mom reached her 50’s. At one time there was widespread belief that as a person aged beyond 40 and 50, their chance of having the gene diminished. We all believed that my Mom and my Aunt did not have HD. My sister and cousins went ahead and started families. There was no reason to believe that anyone was still at risk. Then in May of 2003, my dear Aunt tested positive for the gene. It was devastating to us all and brought back fears of the fate we had thought we narrowly escaped.
TAKING THE HD TEST
Not long after I was married, I seriously considered the possibility of testing. More information on this difficult process is on the Testing for HD page.
My husband and I drove to the Center of Excellence, went in the room hand in hand, and heard “It’s not good news…”. That day changed my life. I will never be as innocent or naïve as I was before that experience. I cried for a minute, then lifted my head and asked for my CAG count. 42. That was some good news. My onset would likely be later in life, and there may be more I could do to prevent it even further.
The next few months were a rollercoaster of concern and fear, but also of great support by my dear husband. Our relationship grew stronger as a result of this monster. Getting through it together, talking about it, knowing I could lean on him for love & comfort, made our mutual respect grow. I admired him for being strong when I needed him. He was the one who helped me sustain my positive, optimistic view on life.
I also leaned on my belief in God. My Christian faith helped me see that God's love is always there when needed.
PREPARING FOR PGD
I researched doctors who could help us have a baby and we attended an orientation with Doctor Werlin of Coastal Fertility in Irvine, CA. In his speech he discussed how they have the ability to eliminate single gene disorders, “including Huntington’s Disease”. I was very surprised that he referenced HD, when he had no idea that HD was why we were there. We felt very comfortable with Dr. Werlin and his team and we decided to go with them for treatment.
In November we had a consultation with “the Whirl”. My husband and I went together and we told him that we want to have a baby without HD. He said that while he hadn’t specifically worked with a couple with HD, he had worked with others with single gene disorders. The process is the same. He took our information and did an ultrasound examination on me. He said that everything seemed to be normal and to work with his nurse on getting the PGD test ready.
(Note: The process is the same for males who carry the HD gene. Just as it is not possible to test eggs for HD before fertilization, it is also not posssble to test sperm for HD before fertilization.)
The PGD test requires that when our embryos reach the 8 cell stage, one of those cells is removed and sent to a laboratory to determine whether the DNA includes the mutation for HD. The removal of a cell does no harm to the developing embryo because at that early stage, all the cells are stem cells and each on its own could theoretically become a human. The remaining 7 cells continue to grow and divide. The removed cell is tested for the HD gene and also is compared to linked markers within the family. All of this must be prepared before In-Vitro can begin, and it usually takes approximately 8 weeks for the lab to ensure they have an accurate HD test.
WORKING WITH THE LAB
In order for the lab to prepare the test, they needed DNA from Mom, my husband and me. I also asked my Aunt to send a sample for additional help. The DNA was packaged up and sent to the lab and the 8-week wait began. It was early January when they started the process, and I expected it to be March before we heard anything.
Less than four weeks later, I received a call from the lab. The test was ready and we could start the In-Vitro process. I was ecstatic - it had only been four weeks! They said that our family has a very strong linked marker and they were sure that the test would be 99% accurate.
There were several tests required before we could begin: blood tests, sonohysterography to check my uterus, sperm analysis. When they all came back normal, we began In-Vitro Fertilization. I was put on a series of injections, beginning with Lupron. Lupron is a suppression drug, used to stop my natural cycle so the doctor can be in control.
The injections of Lupron were strange at first because I had never been injected so often. My husband gave me all the injections because he is a firefighter and he is trained in such things. He was confident and knew how to draw the medicine and administer the injection and it made me feel more comfortable. Every night at 10pm we did the injection. It was subcutaneous, which means that the needles were ½ inch long. Each dose was 10 units. Four days into it I experienced a brief “hot flash” where I was sweating & very hot. But it subsided after about 20 minutes. The next night, I woke up sweating and had to cool off a bit before falling back to sleep. These episodes were the worst of what Lupron did to me, and they weren’t unbearable at all.
Lupron also made me a little more irritable than usual. Things that bothered me before I was on the medication bothered me a lot, but I tried my best to just ride the feeling out. My husband was very understanding and patient with me during that time and sometimes we’d laugh about how “emotional” I was being. Laughing about it all sure made these irritations seem much easier.
A week after starting Lupron, I was directed to stop using birth control pills. I was ready for stimulation. The stimulation phase is where the eggs inside my ovaries are grown and prepared for harvesting. Usually a woman’s body begins preparing many eggs every month, but quickly the body chooses one egg to concentrate all its efforts on and one large follicle is prepared with one egg in it. However, the stimulation phase of IVF tells the body to continue growing all the follicles and the supplement of stimulation drugs supports the production of 10-15 or even 20 follicles. Doctor Werlin told us to add the stimulation drug called follistim to our nightly injections so now we were injecting twice (5 of Lupron and 450 of follistim). Some nights if the follistim container ran out, we would have to do a partial injection and then re-load a new cartridge and inject the rest of the drug. The three injections in one night was rough, but I got used to it pretty quickly.
5 days into the stimulation, I went for an ultrasound and Dr Werlin counted 8 follicles. I was very disappointed because I hoped I would have 15 or more! I spent the weekend resting in bed and drank lots of water. I was feeling crampy pain in my ovaries and figured that it meant my body was working hard. On Monday I went for an ultrasound and he counted 13 follicles! I was ecstatic and knew that resting & taking care of myself was working. I went to work that week of course, but I was very healthy. Every day my ovaries felt heavier & more crampy. It hurt to walk & hurt any time I was bumped, especially riding in the bumpy truck – ouch! I tried to explain the follicles to my husband and told him they were 15-20mm each, like the size of marbles. We laughed and the “marbles” were a constant area of conversation. I had to go in to the doctor’s office every morning that week, but they scheduled my ultrasound and blood work for very early so I only missed an hour of work each day. On Thursday morning my husband said that he wanted to go with me to the appointment to see my marbles on the ultrasound screen. He did and he was surprised at how large they were! The doctor told us that we would be able to retrieve the eggs on Saturday and the HCG trigger shot would be that night.
Thursday night my husband gave me the trigger shot. It was an intra-muscular (IM) injection and he was confident about administering it. Again I was relieved because it scared me! We had to mix the powder with a water solution and then pull it into the needle. I iced my rear for about 10 minutes to numb it and got my heating pad ready. Then my husband gave me the shot and it didn’t hurt as much as I thought it would. I quickly sat on the heating pad and hoped it wouldn’t hurt in the morning. The trigger shot tells my ovaries to begin ovulation and to go though the final egg maturation process. The follicles do their best to get the eggs mature enough to be fertilized by sperm. We hoped & prayed that Saturday we would have lots of eggs retrieved.
Saturday, retrieval day, I felt huge and bloated in my tummy and very heavy ovaries. But I was not unhappy at all. In fact I was excited that the process was working! My husband drove me to the surgery center and I changed into a hospital gown. They put me in bed and started an IV line in my arm. It was funny having the tube coming out of my arm, but I knew it was safe. The doctor came in and explained what would happen. Then they wheeled my bed through the hallway and into the surgery room. It had lots of equipment in it and a bed with stirrups for my legs. It was like ski boots on stands. There were two big lights directed towards the bed & the area where they would be working. I got into the bed & put my legs in the stirrups. The doctor did an ultrasound and showed me that the follicles were still there. Then they said the anesthesia medicine would be injected. I could feel it making me dizzy and sleepy.
I woke up in a recovery room, with my husband by my side. They said that I was talking & responding earlier than that, but I don’t remember any of it. The doctor came in and said we had 11 eggs retrieved and they would call me later with more detailed results. My husband drove me home and I felt really tired and just wanted to relax in bed. My stomach felt really sore and crampy. The doc called to say that 8 of the 11 had been injected with sperm, 1 was non-usable and 2 were immature but they would be allowed to grow overnight & may be mature in the morning.
The next day the doctor called to say 7 out of the 8 were fertilized and the 2 were now mature & being injected that day! I was happy that we had 7-9 embryos! I waited a couple days & the embryos grew & divided. I tried to keep myself busy and not worry. On Tuesday, Doctor Werlin called to tell us the 9 embryos had been biopsied and would soon get PGD! We hoped that at least 3 would be HD free and that we would be able to transfer them back on Thursday. Tuesday we also started injections of progesterone in oil (PIO) and estrogen. These would have to be injected into my body through the first trimester - 12 weeks! - to support a baby & prepare my uterus for the embryos. It is an IM shot and must be given every night! Yikes!
We were given an option of how many embryos to transfer. Some doctors will only transfer 2 or less in a woman 30 & younger. Lucky for us, my doc will transfer 3 or more but makes it clear that he will not do selective reduction. We decided to transfer 3. Basically, the implantation rate for 5-day transfers is 30% per embryo. I figured 3 would give us a 90% chance that at least one would implant.
Thursday was embryo transfer day. I was extremely anxious to hear how many embryos were HD free. We arrived at the surgery center and the nice nurse helped us prepare. Soon Dr Werlin arrived to tell us that 3 embryos were HD free and ready to be transferred! It was really happening and this was the most important moment thus far. We were going to transfer our HD free embryos! I was wheeled in and put in the surgery bed & stirrups again, but this time I didn’t have an IV (only a pain pill they gave me earlier). While the doctor worked we watched the whole procedure on the ultrasound monitor. The doctor first looked at my uterine lining and showed us what all the parts looked like on the screen. He did a test transfer with a catheter and we could see it in my uterus on the ultrasound screen. I couldn’t feel the catheter at all, what I felt was similar to an annual pap test. Then he yelled to the embryologist and she came in with a long tube with the embryos inside. Dr Werlin inserted the tube and released the embryos. We could see the little air bubbles that accompanied them! The embryologist took the tube back to the lab to make sure they were all out, then Dr Werlin & the nurses all yelled “Get pregnant Stacy!!”
They put me on the rolling bed & lifted my feet up so my body was inverted – feet up, head down. I had to lay that way for an hour. The next several days were total bedrest. I was told to only get up to go to the bathroom – for 3-5 days! Then for the remaining days I could go upstairs at night to sleep, take a shower in the morning & go downstairs and rest. I was allowed to walk around a little more. I was directed to continue this modified bed rest until my pregnancy test 11 days later. I kept myself busy by watching movies & TV, talking on the phone & surfing the internet. I finally went in to the doctor for the blood test & later the whole office called me shouting “You’re pregnant Stacy!”
We went in the following Tuesday for our first ultrasound and saw a beautiful, healthy gestational sac. Then Dr Werlin moved the wand a little and out popped a second sac!! They both had yolk sacs and looked good for their age. We were very surprised at TWINS! And we felt very blessed that the Lord would give us 2 beautiful babies after all we had been through.
My daughters were born on October 23, 2006. Laurel and Roxanne bring more sunshine to my life than I imagined. Their picture graces the top of this page.