SIGNAL SCREENING VISIT - Visit one and beyond

This is Terry Hayes the Iowa study coordinator.

The EKG Test (Electrocardiogram) is done the first thing during the screening visit, that is why I am showing it first. It is the probably the most invasive thing they do, and I mistakenly wore a sundress that pulled over my head (because it was so hot outside and in)! What you wear does make a difference, and I came to subsequent appointments wearing jeans, a T-shirt, and a front clasping bra. Also during the first visit, I underwent many other types of tests and scans, mostly for the brain (PET scan, MRI, and many tests of the blood that they do each month. They also weigh me each time so they can adjust the amount of infusion as needed.

One important fact remains: there is no rushing in research, and we spent most of the summer waiting to hear about my admission into the study! It really took weeks from the screening visit to actually schedule a first appointment. 

After I started the study, there would be monthly visits for a year and a half, where I would receive monthly infusions of the study drug (or placebo). The infusion is in the arm, and takes about an hour and twenty minutes each. They also monitor your blood pressure and pulse several times during the infusion. At the completion of the infusion, they take a vial of blood out of the opposite arm, just to make sure nothing is going wrong.  Last week, I had the fifth visit, and things are going very well. We will  never know whether I am on the placebo or study drug, but I am feeling pretty good!

Besides having scans and infusions, there are also a variety of brain tests that I carry out each time, including the type of test that have become familiar through the PREDICT HD study that we did, and some new kinds of mechanical assessments that detect motions in the hands or feet. I have met a couple of other study participants there, and they feel that they feeling an improvement in their reactions to things.

This is me getting the monthly infusion in my right arm.

Hidden No More

Vatican City, May 19, 2017 / 03:24 pm (CNA/EWTN News).- Pope Francis’ gathering this week with a group of Huntington’s disease patients was a major inspiration for those seeking to increase awareness and research about the condition.“In the U.S. this is HD Awareness Month, so we're working on just telling the story of families affected by Huntington’s disease, and this brings it to a whole different platform,” said Louise Vetter, CEO of the Huntington’s Disease Society of America. “Really, with Pope Francis setting the tone I think it offers so much hope and inspiration," 

In an interview about the event, Charles Sabine stressed that, more than any other disease, people keep Huntington's Disease hidden, and that has prevented a cure or effective treatment from being found! There are so many negative aspects of "coming out of the closet," including job problems, insurance problems, (there still is a two-year waiting period for Medicare to go into effect), and all kinds of personal family problems!

A few weeks ago, I started to blog again. The reason is that I promised God (and my family) that I would continue to stay involved in a real way, since I had a sort of "near death experience" recently. The day after our daughter's wedding, in mid-February, I tripped down some stairs in a coffee shop, at the hotel where we were staying. I didn't think I hit my head too hard, but I did get three stitches and a horribly bruised face. I also hurt my right arm, which we thought was broken. So, I took a few weeks not doing too much, putting special healing stuff on my facial bruises.

Weary of staying home, I ordered some purple walking shoes (to wear for Lent) and was dying to take them for a walk. I had new golden headphones, and I was so excited to get outside! I was heading for a street that is about 4 miles away, but I was sure I could do it! I said, this was going to be a walk to remember!

After a couple of miles, my right leg started to feel weak, and I felt like there was a strong wind coming from the left. I tried turning right a few times, then I realized that my right leg was giving out. I was totally veering to the starboard side, and ended grabbing a tree and sitting down next to the tree. A neighbor saw me struggling, and she came to make sure I was all right. She was an emergency room doctor, so she described it very clearly to my husband when he arrived: "I took a do-si-do around the tree!"

I started at the Oak Park Hospital ER, where they did a CT scan to check my brain. Unfortunately, it showed that I had some bleeding on the brain, probably from the fall at the coffee shop. So I had my first ride in an ambulance, as they took me to "Big Rush," so a neurologist could have a look. At some point, they recommended that I have surgery right then and there to let the blood out of my brain! We opted to wait until morning to decide, after talking with our family.

During the night, I "had a vision/dream" that "FAMILY IS EVERYTHING!!" (also the T-shirt motto for the HDSA a few years ago). But Family Really Is Everything! In the morning, I talked with each of the girls about being tested for HD, because each of them has a 50/50 chance of being gene positive. I am Facebook Friends with several distant cousins, and I realized that they have never met my daughters and grandchildren. Those distant cousins also are at risk for HD, and I don't think they ever talk about it. I hope to get them together sometime in the next few month.
FYI: We opted not to have surgery, and my little brain is healing nicely. I have been going for physical therapy and occupational therapy, and I'm walking pretty straight again!

And the big news is that I am going to participate in the SIGNAL trial, (at the University of Iowa) where the medication being given is proving very helpful for people with early symptoms of Huntington's Disease. I will start in July, and will fulfill my dream of participating in a meaningful study that may reap benefits to anyone with HD in the family. My next blog will be a first-person account of someone participating in the SIGNAL trial!

Coming Out of the Closet Times Ten

I just celebrated my 61st birthday! It doesn't sound old to me, for some reason -- probably because I work with people in their 80's and 90's and 100's. They make it easy to feel young!

Coming out of the closet two years ago, when I started keeping this blog, has been accomplished gradually. At first, the blog itself was hidden (by me), and I just shared it with a few people. The latest setting that I have makes it "google-able," and that is a bit frightening to me! I have also started calling myself a "Huntington's Disease Activist" on Twitter and LinkedIn. In order to keep my part time job, I had to reveal my status to my employer, but at that time it was a secret.

Why did I keep it a secret for so long? One big reason is that my husband, who is an insurance man, thought I shouldn't tell anyone. In addition, when I was applying for jobs, I didn't share my status, because my biggest fear was that "people wouldn't take me seriously." I also did it for my daughters, so that they wouldn't have to face discrimination in the job market. And, of course, each of them may decide to be tested at some point in the future. I also tried to protect my untested brother, who happens to share my last name. Now that I am coming out of the closet times ten, the names of my loved ones may be more easily found in relation to Huntington's Disease. That's a chance I am afraid to take, but I will.

This is definitely a great time for me to become an activist for Huntington's Disease. Many important clinical trials are getting underway, including gene silencing trials, which I learned about from the many Facebook HD groups that I have joined. In order to learn more about participation in clinical trials, I called my neurologist a few weeks ago. It's easy to put off visits to the doctor, especially since, at this age, becoming symptomatic for Huntington's Disease is a real possibility. So, when I called to schedule an appointment, I learned that it has been two years since my last examination. That's a long time to claim I'm pre-symptomatic.

My husband accompanied me to my appointment, and I was surprised by his lack of knowledge about HD and me; in particular, he didn't even know my CAG count (which is 42). When I got tested eleven years ago, I did it on the sly, and I think he has pretty much been in denial for many years. This time the doctor did a complete neurological  exam, mostly for the benefit of the five residents, nurses, social worker who were crowded into the little examination room. Happily, I passed with flying colors, and will be starting a couple of clinical trials in a few months. So, I will stay out of the closet (for the time being).

Over His Dead Body

My father was the first one to be tested in our family, literally over his dead body!

When Dad was in his late fifties, he got in trouble by hitting his second wife, who was weakened by breast cancer at the time. She called the police, and he was taken to a downstate jail, near where they lived. 

At the time, our little family was getting ready to take a summer camping trip. When my father called us from jail, we ended up taking a week-long vacation downstate, where we camped in my mother's driveway in our home town. The whole family gathered during this time, and all of us adults were trying very hard to protect our children from too much knowledge of Grandpa's delicate condition (Huntington's Disease), which really had not been named in respect to our father. The family of our stepmother also rallied to defend their mom, who was afraid that he might do it again!

In preparation for meeting with the judge, we decided to tell him that our father did, indeed, have Huntington's Disease, and that we would see a medical specialist as soon as possible. As we spoke to the judge, Dad said,"I do not have Huntington's Disease!" and he gave me a "sidewinder glance," as we called it. Every time think of that conversation, I always remember his "sidewinder glance!" and how guilty I felt to be the one betraying him. The judge released him, as long as he agreed to seek a medical expert.

Dad and his wife moved to Wisconsin so they could be near his mother, who was still living at this time. He promised that he would try not to hit his wife anymore, and that he would go to a Wisconsin doctor that I selected. In retrospect, I now realize that I should have contacted a Chicago Huntington's disease specialist, but I ended up setting up an appointment with the neurologist that had seen a cousin of ours in a nearby town. This is the first time that I got to witness a neurological exam, and Dad's symptoms were quite obvious to me. At the end of the exam, the doctor said that it was probably Huntington's Disease, since his father and cousin had it, but recommended that he get the genetic test, which had just been developed. Of course, my Dad never returned to that doctor; he was there under judge's orders! He also never had the genetic test, while he was still living. He also never admitted that he had Huntington's Disease.

My stepmother eventually died from the breast cancer, and my father lived alone, near his mother in Wisconsin for the next year. We went to see them almost every weekend, and took both of them shopping for his staples - pinwheel coffee rolls, Big Macs, and bananas! Every time we saw him, he asked that we take him fishing in Hayward, which was one of his favorite vacation spots when he was younger. We always had to refuse, which made us very sad! But we were pretty busy with our family at that time, and his mom was still alive, too. So we never got to take him on his dream fishing trip.

Dad also rarely answered his phone, so when Grandma couldn't reach him one hot summer day, we thought he was just ignoring the ringing of the phone. Finally, after a few days of not reaching him, my younger brother, who was there helping Grandma, used his key to let himself into our father's house. He found Dad's body where he had fallen in the hallway, apparently a few days earlier. My brother was very young (in his twenties) at this time, and many years later said that this was the most terrible thing that he had ever experienced.

During the following days, we spent lots of time with our Grandma, trying to plan a memorial service that would ease some of her pain. Since the body was somewhat decayed by the time we found it, we decided to have him cremated. We didn't let Grandma see his body, and I didn't see it either. My husband did the official identification, and it was something that haunted him, too. 

Then, I had the brilliant idea of having his DNA tested, so that at last we would know the answer. My brothers both agreed that we could do it, but it also delayed the cremation process. The genetic test for HD at that time required two test tubes of blood, and it was the coroner who had to take the sample. It wasn't easy, but he got enough for the test and sent the sample to the lab that I instructed him, and the answer was sent to our pediatrician, who was our family doctor at the time. So, we finally had an answer, even over his dead body! He was positive, with a CAG count of 42.

Like It's My Job

I came out of the Huntington's Disease closet when I went on SSI disability, more than a year ago. Since then, I have been using my "work days," or days when I used to work, to exercise my body and my brain to fitness, with the hope of delaying the onset of symptoms of HD. In fact, I have accepted this new use of my time and energy like it's my job, because that's what it has become - my occupation and my daily grind. 

Besides exercising physically and mentally, I spend quite a bit of time (and money) in the purchasing and consumption of nutritional supplements. Maintaining a higher body weight seems to help, as well as these supplements that I take each day: 

Con-cret Creatine - Very easy to take, one capsule a day

Blueberry IQ - Two capsules daily 
(equals 1 cup wild blueberries)

Ubiquinol Concentrated CoQ10 - 
One 100 mg capsule daily 

Omega 3 Fish Oil - One 500 mg capsule daily

Trehalose - Two tablespoons daily

Turmeric Extract - One 300 mg capsule daily

Vitamin E - One 400 mg daily

Citalopram Antidepressant - One 20 mg tablet daily

What about my part-time employment, working with Alzheimer's patients? Well, in anticipation of getting rid of me entirely, when I lose track of just one more person, they have hired someone to take my place, and I only work one day a week -- Sundays, of course, since no one else wants to do it! Before I lose this position completely, I hope to solicit a few new music students via my new website

A few months ago, I put a website together for myself (like it was my job!) It is my hope to attract a few piano and voice pupils, since I have always been a music teacher. Using some you-tube videos that I made from old family movies, I included some samples of my work over the years. I asked family members for input on the site, and it looks pretty good now. I then invited a few former students and colleagues to write a recommendation, and some were kind enough to do it. 

The somber truth is, though, that the people I asked for a testimonial all know that I am on disability for Huntington's Disease. Most of them have not seen me for a long time, and are probably afraid to put their name on a recommendation, for fear that I am already symptomatic. 

By the same token, any prospective students might have the same issue. What if they fear that I am already deep in the mental and physical decline that happens with advanced Huntington's Disease? 

Bring on the self-doubt!