Jimmy Pollard, Lorenza Estandia, Margaret D’Aiuto de Gallardo, Katie Jackson, Katrina Hamel, and Sharon Thomason enjoy networking at the Sacramento Symposium. Lorenza and Margaret traveled all the way from Mexico to attend!
Sacramento Symposium Brings Hope
By Sharon McClellan Thomason
“The symposium in Sacramento was the best HD [Huntington’s disease] gathering we have ever attended,” Bob Lohse wrote for his wife, Gail, who has HD. “We expected lunch sandwiches and sodas and were blown away with the spread. Your organization was a mix of progress, ‘fun,’ and Q/A with speakers available for questions during breaks. We thought Kyle [Fink] did a great job of explaining how all this gene/DNA stuff ties together for someone not a DNA engineer.”
Dr. Kyle Fink, from UC Davis, was one of seven keynote speakers who presented hope and understanding to attendees at Help 4 HD International’s third annual symposium on April 9, 2016, in Sacramento, California. In addition to speakers’ presentations, the symposium featured hands-on activities, a silent auction to raise money for JHD (Juvenile Huntington’s disease) research, and recognition of some very special people in the HD community.
Dr. Jan Nolta, “Bench to Bedside”
After opening remarks by Katie Jackson (president) and Katrina Hamel (vice president), Dr. Jan Nolta, Director of the UC Davis Stem Cell Program and Institute for Regenerative Cures, opened the day’s presentations with “Bench to Bedside,” a talk about PRE-CELL, her stem cell research that she hopes will produce a therapy for HD. PRE-CELL is funded by CIRM (California Institute of Regenerative Medicine), and Nolta’s team has applied for bridging funds for additional short-term studies that the FDA (Food and Drug Administration) has requested before approving human clinical trials.
Nolta’s lab is focusing on producing “paramedic” mesenchymal (MSC) stem cells that will deliver Brain Derived Neurotrophic Factor (BDNF) to the brain. BDNF is very low in people with HD, and so the paramedic cells, which are mature cells derived from healthy bone marrow donors, are engineered to deliver BDNF to the brain. The goal of the research, said Nolta, is to “slow down striatal degeneration and hopefully coax the new striatal neurons to replace those that are dying.” Nolta noted that in her research, they’ve been able to measure in the HD mice that receive BDNF a reduction in anxiety, a regeneration of striatal volume, and a 15 percent increase in lifespan.
In October, the FDA required that Nolta’s team try the therapy in pigs, so they are looking for additional funding to purchase the pigs and are hoping they will then be ready to move into HD-CELL, the human clinical trials later this year. According to Dr. Nolta’s website (www.jannolta.com), her team is seeking an industry partner to help take the MSC/BDNF platform to even more patients, outside of their planned initial Phase 1 clinical trial.
Jimmy Pollard, “You Are a Part of the Change”
Jimmy Pollard, a popular speaker for CHDI who lives in Lowell, Massachusetts, opened his morning presentation with the theme of “Families Keep Telling Their Stories.” His brief history of HD began in East Hampton, New York, where a young doctor named George Huntington saw families with this “curiosity” and continued to Oklahoma in 1888, where Nora Ball and Charly Guthrie had four kids, one of whom was famed singer-songwriter Woody Guthrie. Nora Guthrie developed HD, and Woody moved to Brooklyn, where he married dancer Marjorie. As Woody developed symptoms of HD, Marjorie began to tell her story. Doctors told her to find other families, so she put an ad in the newspaper, found other families who were living with HD, and founded CCHD, the Committee to Combat Huntington’s Disease, which is now known as HDSA, or Huntington’s Disease Society of America.
Pollard said, “Families told stories, organized, partnered up with doctors and researchers, and now we have pharmaceutical and biotech companies interested in HD.”
He noted that Marjorie always talked about the ripple effect of the pebble being tossed into the pond and said that’s what happened and continues to happen in the HD community because, “Families keep telling their stories.” Without those stories, he said, there would be no change. Equally important, according to Pollard, is that families continue to participate in clinical trials.
Participant Lisa Mooney said, “I loved Jimmy Pollard’s presentation. It was such a thoughtful addition to celebrate families moving science forward with participation in studies.”
Morning Panel: “Update on Clinical Trials and Studies in HD”
After a short break, a three-person panel presented updates on the progress of current clinical trials and studies. Dr. Ben Cadieux, Senior Director of Clinical Development at Raptor Pharmaceuticals; Dr. Victor Abler, neurologist and Global Medical Director of Teva Pharmaceuticals; and Dr. Peg Nopoulos, professor of psychiatry and pediatric neurology at the University of Iowa shared research and results with an audience that ranged from scientists and medical professionals to HD patients and their caregivers.
First up, Abler talked about three drugs that Teva currently has in the pipeline. The first clinical trial he spoke of is Pride-HD, a Phase 2 clinical study of pridopidine to see what effect it has on movement, thinking, and behavior, compared to placebo, in people with HD after 26 weeks of use, one tablet per day. Abler pointed out that it is not for chorea, but is for other physical motor symptoms. Researchers believe that the drug may have an effect on some of the symptoms of HD that depend on dopamine. He also spoke about the Legato-HD trial, which seeks to measure the effects of laquinimod, an immunomodulator that has already been in clinical trials for multiple sclerosis. Legato-HD is currently enrolling and is for people with little or no motor symptoms. The third study, SD-809, often referred to as “the next generation” of tetrabenazine, is currently waiting for FDA approval for the treatment of chorea. According to Teva’s website, SD-809, or deutetrabenazine, reduces dystonia as well as chorea and has fewer side effects than tetrabenazine.
Cadieux spoke about Raptor’s drug RP103, a cysteamine bitartrate that was approved for another disease (cystinosis), not HD, but is believed to be a potential drug therapy for HD. Cadieux explained that the drug has antioxidant properties and that HD mice improve motor symptoms and survive longer when placed on RP103. He said patients are currently enrolled in long-term trials in France. Using the total motor scale for HD to measure the effectiveness of the drug, those receiving early treatment do 25 percent better than those receiving later treatment, and completers who are on the drug for a total of 36 months do 35 percent better than non-completers. He said they are currently developing Phase 3, a multinational clinical trial in which they hope to include patients in the U.S., something that Huntington Study Group (HSG) is working on with the FDA. Raptor’s website says that, “The potential clinical benefit of RP103 in Huntington’s disease is reinforced by preclinical studies supporting three proposed mechanisms of action: 1) increased synthesis and mobilization of cysteine resulting in increased levels of glutathione and reduced oxidative stress, 2) inhibition of transglutaminase and induction of a heat shock protein (HSP) response, which assists in promoting proper protein folding and reduced proteolysis, and 3) enhanced gene transcription and increased expression and secretion of brain-derived neurotrophic factor (BDNF).”
Nopoulos, who is the director of Kids-HD and Kids-JHD studies at the University of Iowa, shared some of the goals and findings of her research. She said that brain development in humans continues through the age of 25, and in Kids-HD, they are trying to determine if there may be subtle signs of HD even in childhood. Thus far, research has shown that the higher the CAG repeat, the lower the striatum development, and so the cerebellum compensates by enlarging; however, with CAG repeats between 45 and 59, there are subtle symptoms in childhood because the cerebellum is not quite compensating. Nopoulos said that Htt (the Huntingtin gene) appears to be evolutionary because the more repeats, the better the brain development as evidenced by a higher IQ and a bigger brain. Nopoulos’s studies are funded by grants that pay all travel costs for the family of a child participating in either study, plus there is monetary compensation for the child. As a caveat, she added, “Kids have to want to do it and to understand about HD and that they’re at risk.”
Nopoulos noted that the DeNovo study has shown that a CAG repeat of 30+ is more unstable, particularly in males, and that in rare cases, their kids can develop HD.
Several attendees noted that it was good to hear about the programs at University of Iowa because they really didn’t know much about JHD research.
Dr. Vicki Wheelock, “Pre-Cell: The Path Forward and Findings Along the Way”
Wheelock, director of the UC Davis Center of Excellence, talked about Pre-Cell, an observational study at UC Davis that is managed by Terry Tempkin, ARNP. The trial to develop “the best therapy possible” began five years ago and studies adults at six-month intervals. Wheelock said 42 patients were screened, and 32 were admitted to the trial which includes a study of behavior and movement, brain imaging, and biomarkers.
Wheelock said the MRIs have shown slow, subtle changes, and the Unified HD Rating Scale has shown a slow progression in members of the trial. The trial also identifies problem behaviors, does an E-Cog rating, and measures quality of life. Spinal fluid that’s drawn is sent to Mass General for analysis and has shown plasma BDNF to be very low.
“We have developed measurement tools to be shared with the world,” said Wheelock. “Good science takes time.”
Dr. Kyle Fink, “Gene Therapy in JHD”
Fink, who is part of Nolta’s lab at UC Davis, explained his research that he hopes will lead to clinical trials for Juvenile Huntington’s disease. He’s working on gene modification or correction, targeting the DNA that is the root of the disease. His research with JHD mice has shown the CAG repeat to collapse down to approximately 16 CAG repeats and has produced mutant gene silencing.
Fink said his study is looking for the best way to deliver the therapy to the DNA. “Htt [the huntingin gene] is expressed throughout the body,” said Fink, “so where does it [the therapy] need to be delivered?”
They’re not sure yet what will happen if one area is treated and not another. Fink added, “Htt is critical for development, so the embryo won’t make it out of utero with a total absence of Htt.”
He said that JHD research may help scientists understand how other genes affect the development of the disease, but, he emphasized, “The bottom line is that we need funding to continue.”
Dr. Peg Nopoulos, “The Neuropsychiatric Disorder”
In addition to directing the Kids-HD and Kids-JHD studies at the University of Iowa, Nopoulos is a psychiatrist. She explained, with the use of slides, that the striatum (a part of the brain known to be affected by HD) is highly connected to the frontal lobe; thus, non-motor symptoms controlled by the frontal lobe often appear years before motor symptoms appear. She explained that while psychiatric and cognitive symptoms are the most disruptive for individuals and for families, they are also highly treatable.
Nopoulos pointed out that depressive symptoms decrease as the disease progresses, and are probably more situational than organic. According to Nopoulos, research has shown that major depressive syndrome has about the same prevalence in the HD population as in the non-HD population.
“The suicide rate,” said Nopoulos, “is higher right before (23.5 percent) and right after (21 percent) diagnosis.”
Nopoulos explained that the striatum helps control frontal lobe symptoms, so impairment of the striatum increases frontal symptoms. An increase in agitation and irritability are probably the most common and often contributes to the difficulty of getting placement into and retention in a care facility. Other problematic frontal lobe symptoms include impulsivity and disinhibition, a lack of insight and unawareness (anosognosia), and apathy.
“Apathy,” said Nopoulos, “is more common than depression and, unlike depression, progresses with the disease. The world becomes very small, and the person with HD becomes isolated.” Nopoulos pointed out that this is often more of an issue for the family than it is for the patient, urging that families and doctors ask the patient, “What is your quality of life?” If the patient is content with his/her quality of life, then the isolation is more of a problem for the family than for the patient.
Nopoulos also explained that the cerebellum is also very connected to the striatum and when affected causes increased chorea, difficulty with balance and swallowing, cognitive impairment, and an increase in psychiatric symptoms. Drugs that modulate the neurotransmitters change the brain chemistry: too much dopamine results in chorea, psychiatric symptoms, mainly agitation and irritability. Nopoulos pointed out that treatment of psychiatric symptoms is the same as treatment of psychiatric symptoms caused by other conditions, such as bipolar disorder and schizophrenia. She said the psychotherapy can be helpful in the early stages and encouraged consultation of The Physician’s Guide to the Management of Huntington’s Disease, published by HDSA.
Terry Tempkin, ARNP at UC Davis, Honored
An emotional tribute to Terry Tempkin, who is loved by many families who attend the clinic at UC Davis Center of Excellence, began with a video of colleagues saying their goodbyes as Tempkin prepares to retire. With barely a dry eye in the audience, Tempkin, who works with over 500 HD families, said, “It is about the families. It’s an extraordinary partnership.”
Judy Roberson, president of the Joseph P. Roberson Foundation, presented a certificate to Tempkin, noting that she is the ONLY privately funded ARNP. Roberson said Tempkin is “a visionary, energetic, has heart, and is compassionate.”
Tempkin, in accepting the award, said, “I can think of no higher calling than to come together to help other people.”
She noted that the clinic began with eight patients and today serves 500.
“I’m leaving UC Davis,” said Tempkin, “but I’m not leaving the HD community.” She challenged everyone to reach out to other parts of the world with far fewer resources.
Joseph P. Roberson Person of the Year Award
Judy Roberson began with Margaret Mead’s famous quote, “Never doubt that a small group of thoughtful, committed citizens can change the world. Indeed, it’s the only thing that ever has.”
Roberson said that when her brother-in-law Joe was diagnosed, there was no one in northern California who knew anything about HD. He started the foundation and contacted Dr. Ira Shoulson, with HSG (Huntington Study Group). Shoulson told Joe he needed to find eight people for HSG to open a Huntington’s Clinic. At that time, there were only two in California. Joe found eight people, a clinic was opened at UC Davis, and Dr. Vicki Wheelock became the director. Now, the clinic cares for 500 people with HD. Terry Tempkin came up with the idea to honor one person each year, someone who showed courage and strength in their battle with HD.
Laura Gagnon, announced Roberson, was chosen as this year’s honoree. Gagnon, who lives in Woodland, California, and is a patient at UC Davis, is active in studies and trials and is the third person in her family to receive the award. She was a registered nurse for 40 years in maternity and lost her dad and brother to HD.
In surveys collected at the end of the symposium, one person answered the question, “What could be improved upon?” with this comment: “Nothing, except for a box of tissues on each table!”
Jimmy Pollard, “Hurry Up and Wait”
The afternoon closed with Jimmy Pollard teaching the audience what it feels like to live with HD, what it feels like to think with HD. Through hands-on activities and the use of volunteers, Pollard demonstrated what it’s like to experience slow thinking, the difference between recognition and recall, the difficulty trying to focus when there’s distraction, the difficulty in trying to plan, organize, and sequence, and the problem with impulsivity—“I can’t wait!”
As the audience tried to write their names ever-so-slowly, Pollard noted that fluency decreases, distractibility increases, and the “inner cheerleader” disappears. These things, he said, are the “seeds of misbehavior.”
In an exercise of trying to draw from memory the picture on the face of a penny, Pollard demonstrated the difference between recognition and recall. Recall, he pointed out, is a much more difficult task than recognition.
Through use of the Stroup Test (color names are printed in different colors; i.e., the word “red” might be printed in green, and the person must read the name rather than saying the color), Pollard demonstrated what happens when there’s cognitive interruption.
Finally, Pollard blindfolded a volunteer, turned her round and round, then asked her to find her way across the room to a designated spot, then asked another volunteer to count backwards from 100 by sevens. Both exercises demonstrated the frustration that occurs when there’s difficulty in organizing and planning.
“When skills start to erode,” said Pollard, “you just want to do things; others get judgmental, saying things like, ‘He could do it if he wanted to.’” But as tasks begin to take extra concentration, it becomes fatiguing, and people with HD just don’t want to continue. It takes more effort to recall, to answer hundreds of questions in a day, and it just becomes harder to stay focused.
One survey respondent commented, “I loved Jimmy Pollard because of his delivery style.”
Wrapping It Up
End-of-symposium evaluations reflected excitement about the day’s events: “I enjoyed the interactions between clinicians, scientists, patients, care partners, industry. The set-up of the meeting was conducive to a more intimate dialogue!”
As one respondent summed it up, “I enjoyed the talks, but I especially enjoyed the level of professionalism. From the appearance of the speakers and the coordinators to the wonderful food, it let me know that HDers are cared for and important and valuable.”/* Custom Archives Functions Go Below this line */ /* Custom Archives Functions Go Above this line */
Through the Eyes of an 11-year-old Child Living at Risk
Through the Eyes of an 11-year-old Child Living at Risk
I just want a normal life……..
It seems like I’m the only one in my life that lives with my grandmother and grandfather. They are great and all, probably better than most, but I hate being different . . . I don’t get to see my dad ever and rarely see my mom. When I do see my mom, we always have fun. We go to the park and play on the equipment, we go bowling, or to the mall, and sometimes we all go out to eat, which is really nice because we can just sit and snuggle and talk.
But I just want a normal life.
And let’s not forget the fact that I’m surrounded by family members with HD. My grandmother died of it, I live with my uncle who has it, my Nana’s sons (I call them my uncles) are at risk, and their dad who I called Uncle Joe died of it. It was really sad going to his funeral and seeing my uncles so upset. I suppose this means my mom is at risk, too, but she won’t test. I don’t tell Mom this, but I really wish she would test, so we might know if having HD was part of her problem. Then I know I’d be sad if she tested positive and scared that I might get it. I still think it’d be better if we knew.
I JUST want a normal life.
I have friends that are really great that I can talk to, and some of them have parents that are divorced, and they spend time with each parent or just one parent. It’s not really the same, but they have some understanding of my situation at least.
And we just want a normal life.
I love staying with my grandparents, but I really want to move back with my mom and maybe start seeing my dad. Both my parents have had trouble with drugs and alcohol, and my mom is in recovery now . . . I’m so proud of her. I know she can do this and get a place for us to live.
I just want a normal life.
Where I live now, I have my own room, all decorated with Star Wars, and we have two dogs, Max and Sandy. We also had cats, but they died, and they weren’t very friendly with me anyway. Someday, I’d like my own cat or a guinea pig. That would be so cool.
I just want a normal life.
My grandparents try to help me as much as they can. I see counselors whom I like, and Nana takes me to the movies and signs me up for stuff like soccer, karate, Lego robotics, and other things. We used to go to the library and read with a Golden Retriever and also go to the YMCA.
But I just want a normal life.
I sometimes get so angry, and I don’t even realize it because of my ADHD. I’ve done some pretty destructive things that could have hurt me, but I honestly didn’t think about that at the time. I don’t understand why my mom won’t see me more. My grandparents are very willing to take me to see her any time, so I get really frustrated that I don’t see her as much as I would like. My counselor is helping me with this.
I just want a normal life.
Maybe I’ll never be able to live with my mom again, but I know with the loving attention of my grandparents, counselors, friends, teachers, and extended family, I will have a good life and opportunities to help myself live a good life later.
I just want a normal life . . . and what IS a normal life?
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New Genetic Test Offers Hope
This article originally appeared in February 2016.
New Genetic Test Offers Hope
By Sharon McClellan Thomason
Folks in the Huntington’s disease community are quite accustomed to the bad news that a genetic test can bring; now there’s a genetic test that can actually bring GOOD news because it can help with the treatment of psychiatric symptoms. For me, this is even better than “good”—it’s EXCITING!
My son, Randy, has struggled with severe anxiety for almost a year. Severe like “can’t leave the house” severe. Like many other people who deal with psychiatric issues (depression, anxiety, psychosis, etc.), Randy has gone through a long, frustrating process of trial and error, trying, with his doctor, to find the right medications in the right dosage and the right combination. Typically, with psychotropic drugs, you try a medication for a couple of weeks, and if it doesn’t work, the doctor increases the dosage or tries a different drug altogether. (I went through five different antidepressants before finding, through trial and error, one that worked for me. That’s a lot of lost time when you’re dealing with issues that significantly impact your life!) After repeated med changes and changes in dosages made no difference, Randy’s doctor decided to do a pharmacogenomic test to try and determine what psychotropic drugs would be most effective for him.
The test is called GeneSight®, and according to the website (www.genesight.com), “The analysis is based on pharmacogenomics, the study of genomic factors that influence an individual’s response to medication treatments, manufacturers’ FDA-approved drug labels, peer-reviewed scientific and clinical publications, and proven drug pharmacology.” Approximately 210,000 patients have undergone GeneSight® testing, developed by Assurex Health in Mason, Ohio. The testing is based on “patented technology licensed from two world renowned medical centers, Mayo Clinic and Cincinnati Children’s Hospital Medical Center, who continue to be research collaborators.” It analyzes eight different genes as well as your metabolism.
The test started with two simple cheek swabs done right in the doctor’s office at a regular visit. She packaged them up according to directions and sent them off to the lab. Randy’s Medicare and Medicaid covered the cost of the test. It took a month for us to get the report.
Now here’s the really cool stuff! We went for Randy’s follow-up visit today, and his doctor went over the full report with us. The psychotropic test analyzes a person’s genetic makeup as it interacts with four categories of psychotropic medications: antidepressants, anxiolytics and hypnotics (anti-anxiety and sleep aids), antipsychotics, and mood stabilizers. It assesses a total of 55 different medications that fall into those categories and tells you and the doctor which medications can be used as directed, which ones have a moderate gene-drug interaction, and which ones have a significant gene-drug interaction. Drugs that have a significant interaction should be avoided; drugs that have a moderate interaction can be used, but with certain clinical considerations that are indicated on the report—lower or higher doses may be required; it may be difficult to predict dose adjustments due to conflicting variations in metabolism; the genotype may impact the drug’s mechanism of action and result in reduced efficacy; use of the drug may increase the risk of side effects; serum level may be too low in smokers; the FDA label may identify a potential gene-drug interaction for the medication.
Randy’s test revealed that he should NOT take Paxil® (an antidepressant/anti-anxiety drug) for three different reasons—lower doses may be required, reduced efficacy, and increased risk of side effects. Well, guess what? Randy has been taking Paxil® (paroxetine) for several months now, increasing the dose again and again, with him getting no better or even worse. The doctor wrote a new prescription today for Pristiq® (desvenlafaxine) instead. It’s one of the two drugs listed in the category of “Use as Directed.” In other words, this one SHOULD work as expected. There are 19 others listed in the middle category (Moderate Gene-Drug Interaction).
In the antipsychotic class, there are four drugs identified as having significant gene-drug interaction—these are the ones to avoid. In the past, Randy has been on two of these with terrible results, so I’m thinking this test is pretty accurate! In the class of mood stabilizers, he’s consistently been on Depakote® (valproic acid/divalproex), one of the three recommended for his genotype, and has done very well on it. Again, the test seems to be pretty accurate.
Randy’s doctor also did a second GeneSight® test on him—the MTHFR. This test analyzes one specific gene to predict how your body processes folic acid. If your body is unable to convert folic acid into its active form, this can cause folate deficiency, which can be important when treating depression, anxiety, cardiovascular disease, or when pregnant. Randy’s test showed that he has reduced folic acid conversion, resulting in moderately decreased serum folate levels. He also has moderately increased homocysteine levels, which is associated with low levels of Vitamins B6 and B12 and has been linked to increased risk for heart attacks, strokes, and renal disease. It can also interfere with creation of the brain’s “feel good” chemicals—dopamine, serotonin, and norepinephrine.
Because of the results on the MTHFR, Randy’s doctor has prescribed for him EnLyte®, which she described as “a medical food” in the form of a gelcap. Taken once a day, it is used in treating Alzheimer’s, mild cognitive impairment, vascular dementia, major depressive disorder, diabetic neuropathy, renal disease, and atherosclerosis. It’s basically a super multivitamin and must be prescribed by a physician. It includes three forms of folate, Vitamins B1, B2, B3, B6, and B12,CoEnzyme Q10, and Omega 3s, among other things. If it works like it’s supposed to, EnLyte® should help with Randy’s anxiety, depression, and cognition, and Florida Medicaid will cover it!
To say that I am excited and hopeful about all this is an understatement! In fact, I’m so excited that I’ve asked Randy’s doctor and a representative from Assurex Health to speak about GeneSight® at our Florida Symposium, October 8, 2016, at the Lodge at Wakulla Springs, and they’ve accepted the invitation. I believe that this is a major breakthrough, and it’s so important for our community to know that this kind of testing is available! I believe it will help physicians treat what 70% of people attending the FDA-PDUFA meeting in Silver Springs, Maryland, last September identified as the most troubling and problematic symptoms of HD. If it works as well as I hope it will, it can not only save precious time, something that folks in our community don’t have in abundance, but it can also give us more quality time!
As a side note, GeneSight® offers two other tests as well. Their Analgesic test analyzes gene interaction with 22 FDA-approved medications frequently prescribed for chronic pain, something that may be especially important for children with Juvenile Huntington’s disease. Their ADHD test analyzes gene interaction with eight different FDA-approved drugs for ADHD and narcolepsy.
Stay tuned for a report on what kind of results we get from the Psychotropic and MTHFR tests!
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Guidelines for Genetic Testing Aren’t Working
This article originally appeared in October 2015.
Guidelines for Genetic Testing Aren’t Working
As anyone with any knowledge or affiliation with Huntington’s disease knows, predictive testing to determine if one has the genetic mutation (and anyone with a parent with the disease has a 50% chance of inheriting it) is not a decision entered into lightly. Regardless of the outcome, the implications of learning whether you carry the mutated gene are life altering.
Guidelines for genetic testing for H.D. were developed in 1994 by the U.S. HD Genetic Testing group. Most HD Centers of Excellence (COE) closely follow these guidelines, even though the guidelines specifically state “…It is important to emphasize that these are not intended as rigid rules but rather recommendations to guide and inform practice, based on current evidence and expertise.” (Emphasis added by author.) It’s my experience that Centers of Excellence do not view these as guidelines but as rigidly inflexible rules, directly countering the guidelines.
Some background information about me may be contextually useful here. My father was diagnosed with Huntington’s disease in his early 70s. At that time, I reached out to a family friend who was a genetics counselor to learn more about the disease I had not heard of prior to that point. In addition to speaking with her at length, I spoke extensively with my father’s neurologist and attended all of his appointments at which I asked numerous questions. Following his diagnosis, I followed every story provided by my daily Google alerts on the topic, and as an employee of a large university, regularly requested academic articles and research papers on the topic. I meet with a neurologist at a COE facility annually for a neurological evaluation. I met with a neuropsychologist for testing. I attended HD support group meetings and fund raisers and, disappointingly, found a number of well-meaning, but not particularly effective advocates in the HD community. Three months after mentioning to an HD board member about a new program emerging at a local hospital, this person sent me an email to the effect of, “You were right about this new program.” As someone not serving in an official capacity, I was dismayed to think I was more knowledgeable about emerging developments in the HD community than the “officials” were. Suffice it to say, I’ve gathered a great deal of information about the disease and feel fairly knowledgeable about the disease and the research in progress.
It is now six years since my father’s diagnosis, and I finally feel ready to test to find out if I have the gene. The COE recommendation states, “REC 6.2: Neurological examinations (if possible) and psychological appraisal are considered important to establish a baseline evaluation of each person. This however is not a requirement for participation in predictive testing. COM 6.2: Refusal to undergo these and other additional examinations will not justify the withholding of the test from participant.”
I contacted two COE facilities, both of which told me I would need to meet with a genetic counselor numerous times, meet with a neurologist, meet with a neuropsychologist, and participate in a number of other required steps, including a blood draw and follow-up. (And I found it funny that one of them, when asked about their anonymous testing program, inaccurately told me I had to bring in a prescription for the test and then again when I showed up for the first step, requested my ID and insurance card. So much for anonymity……) “In general, it is good clinical practice for the counselling team to suggest that other physicians involved in the participant’s care be kept informed about the test and the result. If the participant objects, his/her view should be respected except in the most exceptional of circumstances.” The whole point of testing at a COE is to preserve anonymity. “Should be” should be a “must be,” except in rare circumstances.
My question with regard to all these required appointments is, “Why?” There is no way at this time that in the course of a normal one-hour appointment, a genetic counselor is going to tell me anything useful that I don’t already know about the disease, and truthfully, if I had a question, I would pick up the phone and call our genetic counselor friend. Are these Centers of Excellence not familiar with this recommendation or opting not to follow it? The time for meeting with a genetic counselor is when you know nothing about the disease, not when you’ve lived with it via a loved one or ones for 1, 5, 10 or 20 years, once you’ve decided it’s time to learn your fate. As many people know, this is a rare disease, numbering in various places from a few to tens of thousands of people in the U.S., and it’s a minority of those at-risk that choose to be tested, so the guidelines should allow for some flexibility based on the potential number of people impacted.
I’ve heard it stated that the reason one needs to meet with a neuropsychologist is to determine one’s emotional state of mind to evaluate whether he or she could handle a positive result. Based on the high suicide rate associated with this disease, my guess is this is (sadly) not a strength of the program. To me, this requirement feels more like it’s a step to protect the center rather than to benefit the patient. Additionally, the idea that a healthcare professional has the ability to deny my right to know about my own health and the necessary planning required for either outcome is just wrong.
Also, in an effort to maintain anonymity, at-risk individuals must pay for all these visits, which are ultimately not reimbursable either by insurance, health care flex spending, or on one’s taxes, out of pocket. (See REC 2.2: “Each participant should be able to take the test independently of his/her financial situation.”) By requiring a multitude of appointments, regardless of an individual’s background or knowledge of the disease, the out-of-pocket expenses range from approximately $350 to $1,000 or more. Who does this serve?
Another recommendation in the guidelines states, “REC 3: The participant should be encouraged to select a companion to accompany him/her throughout all the different stages: the pre-test, the taking of the test, the delivery of the results and the post-test stage.” The closest COE to me is about 30 miles away, and based on conversations I have had with others at-risk, that’s pretty close on a relative basis. I know people who are hundreds of miles away from a COE. Is it reasonable to ask a friend (because family members are discouraged in this role) to take 3-6 days off work to accompany someone to these appointments? Furthermore, should the result come back positive, one wouldn’t even have the luxury of focusing on his or her own results, because he or she would be concerned about his or her friend, who has just learned the at-risk individual has a terminal illness. Who does this serve?
While I completely disagree with the processes in place for at-risk persons, due to a need to know, I finally just decided to go get tested at a COE. I made my appointment, went with cash to cover the cost of the appointment (even though they couldn’t give me a specific dollar amount for the first appointment), prepared myself mentally for what I was about to embark on, and showed up at the office for my appointment. I waited, and I waited, and I waited some more. I had taken a day off work for this appointment, and the person I was supposed to meet with couldn’t manage to keep our appointment? I left wondering what are the standards for “Centers of Excellence” and believing it to be little more than a marketing term. As a matter of disclosure, I’ve now been to two COEs. My experience has been one of bureaucratic red tape. My father, on the other hand, was diagnosed by a wonderful neurologist. When we went in for his appointment, we had no knowledge or family history of HD. This neurologist, who has since retired, requested the HD test. There was no appointment with a genetic counselor, no psych evaluation, no consecutive required appointments. Truth be told, my dad was far better served by his unaffiliated neurologist than I have been by the two COEs I’ve met with.
Was this the point of the testing guidelines and of the COE designation?/* Custom Archives Functions Go Below this line */ /* Custom Archives Functions Go Above this line */
Haunted by Ghosts of Huntington’s
This article originally appeared in October 2015.
Haunted by Ghosts of Huntington’s
By Marcia McCall
Huntington’s disease has a reputation for being a “rare” disease. Statistics say that only about 30,000 people in the United States are affected by this disease. Yet 15 years ago, when a Florida clinic was recruiting subjects for one of the first clinical trials, the phone began ringing constantly….it seemed that 28,000 of those affected must live in Florida!
Today, social media is alive with people affected by Huntington’s disease. Facebook and multiple blogs cater to caregivers, gene positive people, or people at risk. The participation on these sites is overwhelming for such a “rare” disease. It appears that Huntington’s may not be as rare as once thought…so where are all these “ghosts” hiding that make Huntington’s such a “not so rare” disease?
Indeed, there are many “ghosts” that contribute to the “rarity” of Huntington’s disease. And the first and perhaps the greatest of these are family “ghosts,” or secrets that are not shared even within the family. So many times, a newly diagnosed patient is surprised and bewildered by being diagnosed with a genetic disease and has no knowledge of the disease ever being present in the family. A little digging through family history turns up stories of a grandfather who was thought to be an alcoholic, a crazy aunt who lived in a mental institution, an abusive parent who abandoned the family, or secretive cousins who had little contact with the rest of the family, and other tales considered too taboo to share or pass on to younger generations. The patients find that they are not alone; there were many “ghosts” in the closet before their diagnosis.
Perhaps the main reason the “ghosts” were relegated to the anonymity of the closet was fear. Fear is the strong motivator for fight or flight…and many families chose flight…as far away as possible. No one would want to live with disgrace, stigma, shame, or worse, experience the pity of their society.
The Puritanical practices of the earliest settlers in New England punished deviance from societal norms severely. Although it is no secret that several men affected by the “dancing” disorder called St. Vitus’ dance came over with Governor Winthrop to the Massachusetts Bay Colony, only two chose to remain. Others may have come on other ships, but their history is not so clearly reported. When the motor symptoms of the affected men became so obvious they could no longer be disguised, the uncontrollable movements were considered to be punishment for their sins. Later, affected women were accused of dancing with the devil or of being witches. (None of the witches of Salem were affected with St. Vitus’ dance, but the witch of Groton, Connecticut, was hung for allegedly being inhabited by the devil.)
As the colony grew and time passed, other members of other families were also recognized as having St. Vitus’ dance. By the 1850s, medicine was advancing, and physicians noted that St. Vitus’ dance was a “curious” disease that ran in families. These physicians were more interested in identifying people afflicted with this disease than in treating the symptoms. Affected families tended to keep their own counsel and remained somewhat isolated from the general population but followed the same occupations and kept the same social standards as their neighbors. Within their own communities, affected people held positions of respect and were elected to local offices until their symptoms prevented them from carrying out their duties. They were not overtly discriminated against, but their differences were noted.
By 1872, George Huntington had become the third generation of his family of physicians to treat the community of East Hampton, Long Island, where many families affected by this disease lived. No longer simply interested in identifying people affected with St. Vitus’ dance, he began to study the disease as a science and wrote the description still used to this day. Because of his interest, study, and astute description, the disease became known as Huntington’s chorea. He called it a chorea, which comes from the Greek word for dance or dancer (khoreia) because of the dancelike movements. (Later, the name was changed to Huntington’s disease because not everyone develops the motor symptoms of chorea.)
Dr. Huntington correctly made the association that it was a hereditary disease, but unfortunately, he described the cognitive and psychological symptoms as “insanity,” which shifted the way in which the disease was understood from a benign manifestation to a medicalized disability that brought a negative aspect or stigma to the affected families. Families with Huntington’s disease began to be perceived as detriments to society who were prone to have too many children. Also, at this same time, medical “science,” such as it was at the time, became focused on building a society that was disease free and had only good genes. This was the beginning of the Eugenics Movement. (The word eugenics derives from Latin, “eu—” meaning good and “genics” referring to genes.) The United States was not alone in the Eugenics Movement. Europe, too, and particularly Germany, shared this view. Hitler used eugenics to justify his deliberate and harsh programs to eliminate those he considered unfit for his program. Opinion at that time was that anyone from a family that included members diagnosed with insanity should not be allowed to marry or to have children. In the U.S., Indiana was the first state to pass mandatory sterilization laws in 1907. That law read that sterilization was necessary for “prevention of the procreation of confirmed criminals, idiots, imbeciles, and rapists.” More than 60,000 men, women, and children in the U.S. were sterilized without their consent before individual states found the laws unconstitutional and voted for their repeal. Not until the end of the 1970s were the final laws passed that made forced sterilization no longer legal in any state. It is not hard to see why prior generations would choose to keep their “ghosts” firmly locked in closets and never share their secrets with anyone.
The 1960s was a decade that brought attention to social ethics and reform. Mental health began to receive more recognition as a disease, civil rights moved front and center, and the feminism movement saw improvements in reproductive health and medicine for women. Science was changing due to better education, and research began to focus on causes and treatments of disease. Many of the drugs used today to treat illnesses were developed after this time. By 1984, the gene that causes Huntington’s disease had been found. In 1994, the genetic test to determine if an individual would develop the disease had been developed. But it was expensive, and few doctors even knew about it.
Medicine was also growing by leaps and bounds. The independent family physician who treated all members of a family for anything and everything from birth to death was being replaced by doctors who specialized in different diseases and specific areas of medicine. Medical care moved into medical clinics organized by the corporate world, and insurance dictated practice guidelines. Specialists became even more specialized; for example, neurology now has specialists who deal exclusively in stroke or epilepsy or movement disorders or multiple sclerosis or autism, etc., etc.
Today, there are now more than 20,000 known common illnesses. So it is easy to see why many doctors may never have received any training to recognize the symptoms that lead to a diagnosis of Huntington’s disease. The early symptoms are often vague and can be indistinguishable from symptoms for other diseases. Also, there is no general x-ray or laboratory test, such as can identify many other illnesses, which can specifically identify Huntington’s, only the specific genetic test. Without previous experience with this disease, doctors may have a very hard time trying to find what is going on with the patient. Or they may see the symptoms in terms of diseases with which they are familiar and do have more experience.
Patients, too, may not be acting in their own best interests. Lack of knowledge of family history is a big issue. Slightly more advanced symptoms also include anosognosia, or “organic denial,” the total inability to see what is happening to them, even though caregivers may insist there is a problem. Constrained by time and number of patients, doctors rarely have enough face-to-face time with the patient to fully assess family histories and must focus on evaluating the symptoms the patient does complain about. Unless a physician has had previous experience with Huntington’s patients, coaxing out the realization of other symptoms from a patient who is unaware or in denial may be exceedingly difficult.
Many doctors are unwilling to consider a diagnosis of Huntington’s until well after the motor symptoms or chorea presents. The psychological or cognitive symptoms which usually present first are treated the same way whether or not they are part of Huntington’s. And even if the physician does suspect Huntington’s, genetic testing is needed to confirm the diagnosis.
Through the development of social media and the internet, awareness of this disease is increasing. National organizations and local groups are bringing attention to the problems faced by families affected with this disease. Social stigma and discrimination are also lessening as affected families band together and find support and encouragement from each other. Changes in insurance regulations have helped ensure that coverage for “pre-existing conditions” is now mandated. Research into causes and treatments for this disease has expanded tremendously since the year 2000, and with it, education of both doctors and families. As science continues to advance the search for the cure, the “ghosts” of Huntington’s will be vanquished, never more to haunt or add further anxiety to already distressed families.
Winthrop, John; Dunn, Richard; Savage, James; Yeandle, Laetitia. The Journal of John Winthrop, 1630–1649. Cambridge, MA: Harvard University Press, 1996.
 Samuel Willard, A briefe account of a strange & unusuall Providence of God befallen to Elizabeth Knap of Groton in Samuel A. Green, ed., Groton In The Witchcraft Times. Groton, MA: [s.n.] 1883.
 Arthur Kleinman. Writing at the Margins: Discourse between Antropology and Medicine. Berkeley: University of California Press, 1995.
George Huntington, M.D. “On Chorea,” The Medical and Surgical Reporter: A Weekly Journal. Philadelphia: S.W. Butler, vol. 26, no. 15, April 13, 1872.
 Diane B. Paul. Controlling Human Heredity, 1865 to the Present. Amherst, N.E.: Humanity Books, 1998.
 Gusella, J. F.; Wexler, N. S.; Conneally, P. M.; Naylor, S. L.; Anderson, M. A.; Tanzi, R. E.; Watkins, P. C.; Ottina, K.; Wallace, M. R.; Sakaguchi, A. Y.; Young, A. B.; Shoulson, I.; Bonilla, E.; Martin, J. B. “A polymorphic DNA marker genetically linked to Huntington’s disease”. Nature, 306 (5940): 234–238, 1983.
 “Guidelines for the molecular genetics predictive testing Huntington’s disease.” Neurology 44: 1533–1536, 1994./* Custom Archives Functions Go Below this line */ /* Custom Archives Functions Go Above this line */
The Amazing, Astounding, Awesome, Super Hero Cameron Brown
This article originally appeared in May 2015.
The Amazing, Astounding, Awesome, Sensational, Spectacular, Phenomenal, Extraordinary, Incredible Awe Inspiring, Super Hero Cameron Brown
By Sharon McClellan Thomason
Bright brown eyes and a big, engaging smile belie the fact that Cameron Brown, 13, struggles daily with the pain and suffering of Juvenile Huntington’s Disease.
“Cameron is an amazing child,” says his mother, Tina LaVornia-Ross. “He is funny, sweet, and loving. He has always been easy to please, and he appreciates everything. He has an amazing soul, and he has unknowingly taught people so much in the short time he has been on this earth.”
On June 13, hundreds of people will get to see that big, happy smile as they meet Cam (as his mom calls him), the official honoree for the Juvenile Huntington’s Disease Walk in Sacramento, the first JHD event ever held in the United States. Every penny of the net proceeds will go to the Institute for Regenerative Cures (IRC) at UC Davis, California, to support Dr. Jan Nolta’s JHD Research Initiative.
Tina said Cameron doesn’t and has never realized truly what is going on and doesn’t grasp that there is anything wrong with him. When he has asked why he has to go to doctors and get tests, she has tried to explain, but he just doesn’t understand. “It has been a blessing in this,” said Tina.
“Cami loves cartoons,” Tina said. “‘SpongeBob’ is his favorite. He has yet to meet a cookie he hasn’t liked. When he was still able to walk, he loved to run and race his brothers. He was always happy. Even now, no matter what he is going through, if you ask him how he is, he will say, ‘Good.’ He has a beautiful soul.”
Cameron’s father, William, was diagnosed with Huntington’s disease in 2000, at the age of 28, when his chorea became too difficult to control, and he was no longer able to work. Tina’s husband knew that his dad had it, but didn’t know a lot about it and wasn’t even sure of his chances of getting it. Tina researched HD at the library, and after seeing eight doctors, one finally gave them a referral to a neurologist for William to be evaluated and possibly tested. The youngest of four children, William began showing symptoms in 1994-95, and went to live with his parents in 2001, due to issues with anger, after Cam and his twin sister were born. He went to a nursing home in 2006, and lived there until he passed away in January of this year. Cameron’s grandfather, who also had HD, passed away in 2005, and one aunt passed away from HD in 2013. After William was diagnosed, and Tina was pregnant with Cameron and his twin sister, the doctor told them not to worry, that there would be a cure by the time the kids were old enough to be affected by the disease.
Tina first noticed something was wrong with Cameron in 2006, the summer before he turned 5. She said the symptoms were slight: he fell a few times over nothing, was dropping items more than normal, and would struggle with the doorknob. Knowing the family history, she took him to her family doctor, a doctor she trusted and whose input she wanted, in August of 2006. When she first suggested that Cam might have Huntington’s, the doctor was dismissive, but Tina persisted, explaining to the doctor the family history and that Cam’s symptoms, however slight, were there. After CT scans and blood work, the doctor decided to test him for Huntington’s. When the test came back, there was only one CAG (cytosine-adenine-guanine) number (which was in the normal range) and a notation from the lab that possibly his second number was too high, which is why it did not appear on the results. (Normally, in the genetic test for HD, the CAG number for both alleles, one inherited from the mother and the other from the father, is given.) The doctor dismissed this and said that Cameron was negative for Huntington’s disease, adding that Tina should not pursue this diagnosis because there was nothing anyone could do to help Cameron if he had JHD. He suggested that she wait and see.
Unable to do that, Tina sought out another pediatrician who said that he honestly knew nothing about HD and that he didn’t see what she was talking about, but, given the family history, he would refer Cameron to a neurologist. Cam saw the neurologist in December of 2006, in Las Vegas. The neurologist walked into the room and silently watched Cameron play with his toys on the floor. After examining him, she said that she saw the chorea Tina had spoken of and that she would like to do further testing. She explained that with children, a different test had to be done to measure the longer CAG repeats. (Most adults with HD have CAG repeats of 40-50, while children with JHD usually, though not always, have CAG repeats over 50. A different, special test must be done to detect the very high numbers.) On Feb. 13, 2007, Cameron was officially diagnosed with Juvenile Huntington’s Disease with a CAG of 95.
Tina said one of the biggest challenges she faces as his mom is making sure she has the best people caring for him; she still struggles with “doctors who give up too easily.” Although Cam was diagnosed in Las Vegas, the lack of pediatric care was hard, so she made the decision to move to Rhode Island. Tina had family there, and Boston was close by, where Cam was cared for by Dr. H. Diana Rosas at Mass General from 2007-2013. The cold weather worsened Cameron’s dystonia and made him very uncomfortable. It was also difficult to make the hour-long trip with Cam to Mass General, so Tina moved to California, where she has family. She says Dr. Rosas was an amazing doctor and one of the most genuine people she’s ever met. Currently, Tina is struggling to find a pediatric neurologist who understands JHD. She and her partner, Carrie Ross, work opposite shifts so that one of them is always there to care for Cameron.
Another challenge is being a mom to her other children and not letting them suffer because her attention is always on Cameron. She says it’s a balance she has yet to master, but one she works on daily. Cameron has six siblings. He has a brother from his dad’s previous relationship, a 19-year-old sister, an 18-year-old brother, a 16-year-old sister, his twin sister, and a little brother who is 12. His 16-year-old sister is not symptomatic, but plans to be tested when she turns 18. Tina will also have Cameron’s twseiUewain, who was born with developmental delays but is not symptomatic, tested when she turns 18. The others are not at risk.
She says that the biggest challenge at first was learning not to grieve over Cameron right now. Tina remembers being told by another JHD parent who had just lost his son to enjoy the time with her son now because there will be plenty of time for grieving later. She said that once she internalized that advice, the journey became easier; she’s been able to make the most of the time Cameron has here and to push him to do the most and the best that he can do.
Tina made the difficult decision to pull Cameron out of school in September of 2014. She said he wasn’t happy there and was no longer benefitting from going to school. Even so, it was a decision she and her partner struggled with for a long time.
“Cameron’s biggest challenge right now,” said Tina, “is his ability to eat and communicate. He loves food, especially sweets, and he has had trouble with opening his mouth when he wants to, so some days, all his nutrition comes from his g-tube. Communication has always been a challenge, and some days, it’s hard to understand anything. Without proper use of his hands, due to dystonia, he is not able to use an iPad or any other device to communicate his needs. It’s a guessing game most days, and that is frustrating on both ends.” The medication Cameron takes for seizures has the undesirable side effect of making it difficult for him to open his mouth.
Besides dystonia and difficulty communicating, Cameron’s symptoms over the past nine years have included falling, fine motor deficits, seizures, and swallowing issues. He has lost the ability to walk, talk, and hold himself up. There have been several things that Tina and her family have found to make Cameron more comfortable and happy over the years, and she says that tips from other moms have helped so much on their journey. An egg crate mattress cover keeps Cameron more comfortable, and weighted blankets (used for children with autism) help to soothe him. She’s learned that too much excitement, being upset, or just being off schedule will often trigger seizures. Much of what she’s learned has been from careful observation of Cameron and conversations with other JHD moms on Facebook. She added, “The JHD group on Facebook is my lifeline, and I am thankful for all the moms every day.”
Because Cam spends about 50 percent of the day in bed, Tina has moved his bed into the living room so that he can be a part of everything that goes on in the family. They keep two chairs by his bed so that family members can sit close to him and interact with him. While Cam seems unable to fix his eyes on anything, Tina said she can tell from his laughter at funny things that are said that he understands what is going on around him, and she can tell that his mood has improved.
Huntington’s disease has impacted Tina’s life and the life of her family greatly. She notes that her marriage was destroyed and that her son will never live to do the things others take for granted.
“I am living a life that many parents fear,” Tina said. “People dream of healthy, happy kids.”
Many of her family relationships are strained; some don’t know what to do or say, so they do or say nothing. Others judge her decisions or the way she takes care of Cameron. She believes that grief and fear come in many forms, so she has learned to accept that people handle things in different ways.
The most important piece of advice Tina would give to someone who suspects JHD is, “Don’t give up. Moms have an amazing intuition, and we know when there is something that isn’t right. Fight for your child so that if it turns out they do have JHD, the services and care can begin early, and your child will have what they need.”
Tina is proud that Cameron has been chosen as the Poster Child because the JHD Research Initiative from Jan Nolta’s lab means hope. She is excited about the initiative and wants Cameron to be part of it. She’s also excited at the prospect of meeting other moms that she’s talked to on Facebook for years but has never met.
“Even though Cameron will most likely not benefit from this research,” Tina said, “the fact that this may give other children hope to not have to suffer with this disease is amazing. The scariest thing about this disease is the lack of treatments. There is no hope right now for these kids, just short lifetimes of pain and suffering. Hope that research will eventually bring a cure for these kids means a lot to me.”
Update: Sadly, Cameron Brown lost his battle with JHD in November 2015, as he traveled across country from California back to the East Coast to be closer to family. Heaven has gained another JHD Warrior Angel. Rest in peace, Cami, until we meet again. Cami’s memorial page may be seen here./* Custom Archives Functions Go Below this line */ /* Custom Archives Functions Go Above this line */
Help 4 HD International Hosts Inaugural JHD Kids Walk
This article originally appeared in May 2015.
Help 4 HD International Hosts Inaugural JHD Kids Walk
By Sharon McClellan Thomason
“Several years ago Jacey Mukka reached out to me to ask me if I could save her little sister, Karli,” says Dr. Jan Nolta, researcher at the University of California at Davis (UC Davis) Institute for Regenerative Cures. “We did not have anything to offer her; we were not even close to the adult trials yet. Karli passed away [at the age of 13]. It broke my heart.”
The seed was planted, though, and Nolta never forgot about Jacey’s request.
“While working toward our CIRM-funded clinical trial for adult HD,” Nolta said, “I continued to think about JHD (Juvenile Huntington’s disease) daily, going to JHDkids.com and watching the videos to keep myself working even when I was tired, even through treatment for breast cancer (I am okay now). With this motivation, we have continued to work quietly but intently on our strategies that could be used to treat JHD, which is far more aggressive and quickly progressing than adult HD, over the past years.”
The more Nolta thought about JHD, and the more she watched the videos of kids with JHD, the more determined she became that something had to be done.
“Joining Facebook one year ago, over the holiday break,” Nolta said, “I connected on a more personal level with many families and wonderful kids who are affected by JHD. I do not have time to log in every day, but when I do, I get a huge dose of renewed inspiration and then go back to work. Posts from the families and the young people themselves who are affected (like Jacey) help me understand the ravages of JHD, and my commitment has grown to be even more intense through these interactions. I share things with my lab members, and they are equally motivated. We also have several young lab members who are at risk, and who we love, and this provides motivation as well.”
Enter Katie Jackson, president of Help 4 HD International Inc., a 501(c)(3) organization, and ardent stem cell advocate. As the wife of a man with Huntington’s disease and the mother of three children at risk for JHD or HD, Jackson began to fear for her children. She also realized that JHD was almost never talked about at the many conferences she attended.
“It’s my worst fear,” Jackson said. “I just can’t imagine what these moms [of kids with JHD] are living through. These are our babies. They need help.”
Jackson called Nolta one night and shared her fear about her children, especially with her husband’s CAG repeat being so high. She asked Nolta if there were any way Nolta could start doing JHD research in the lab at UC Davis. Nolta told her that they’d already started, so Jackson made a commitment to raise money and raise awareness. She said she’d write letters to philanthropists who give money just to children’s causes and also decided to host a JHD walk to help the JHD/HD community come together, to give them hope, and to raise awareness among the general public.
This inaugural walk, Saturday, June 13, 2015, 8:30 a.m.-1 p.m., at McKinley Park in Sacramento, California, has already had a phenomenal response. According to Jackson, monetary donations from sponsors and individuals have already reached over $7,000. Every penny of net proceeds will go to support Nolta’s JHD Initiative, the first ever clinical research for Juvenile Huntington’s disease. “In-kind” donations (raffle prizes and silent auction items) are coming in daily.
According to Nolta, under ten percent of HD cases are in people under 18, but, she says, “We are not sure how accurate that is. JHD is caused by the same CAG repeats in the DNA (often, but not always, a longer stretch of repeats) and is different, with seizures and other problems that are unique. We don’t know exactly how the two diseases (HD and JHD) differ, and more study is needed.”
The JHD Initiative at the University of Iowa is collecting data to better understand the disease, and Nolta is hopeful that this data will help her lab in developing stem cell and gene therapies to treat or even cure JHD.
“We are developing strategies that will actually modify the DNA or shut down the mutant gene,” said Nolta. “This would help with adult HD as well.”
Honoring her commitment, Jackson has been working on the JHD Kids Walk for six months. With sponsors Teva CNS, Auspex, Raptor, and Wal-Mart covering most of the cost of the walk, Jackson emphasizes that every penny of net proceeds will go to support Nolta’s research. Items donated by community businesses and organizations for a raffle and a silent auction will raise additional money for the research. Registration, which is $25, includes a T-shirt, lunch, and entry into the raffles. Thirteen-year-old Cameron Brown, who suffers from JHD, is this year’s official honoree and Poster Child for the Juvenile Huntington’s Disease Kids Walk, the first JHD event ever held in the United States.
Currently, Nolta’s lab is working on two different strategies, a gene therapy/interference study and a gene editing study. Although Nolta is not certain when the research will translate into clinical trials, she says, “Our proposed studies will be accomplished and translated into a clinical trial for Juvenile HD as rapidly as possible. For JHD, we know that every hour counts.”
One of the most exciting aspects of the walk, for Jackson, is that JHD moms will be meeting each other for the first time in person. Thanks to a generous donation from an anonymous source, moms from as far away as Iowa, Georgia, and Florida, moms who have been each other’s lifelines through social media, are flying to Sacramento, where they will meet face to face, participate in the walk, and even get a personal tour of Nolta’s lab.
“The JHD trials are important to me,” says Denise Hudgell, from Iowa, “because I have a nine-year-old son, Aidan, who has JHD. A trial would mean that there is a chance to stop this disease from taking more and more away from him, a chance at doing things that his friends can do that he can’t. I would be willing to have Aidan participate in the trial. I believe that it would be his best chance at defeating this monster. Our family wants our little boy to have the best chance at a long, happy, pain-free life.”
The trials offer the first hope ever to many who have lived for years without hope.
“My son Cory is 20 years old and in the last stages of this disease,” says Stacey Sargent, from Georgia. “IF he were able to participate, and just receive some comfort from the dystonia and have more quality of life, we would be first in line. Cory was a misdiagnosed child (autism, cerebral palsy) for years prior to the JHD diagnosis when he was 15 years old.”
Even if you cannot attend the walk, donations are encouraged and welcomed. “We appreciate any donation and will put each dollar to good use,” Nolta said. “We do not like to take money from the families suffering from this disease. I would wish that those funds could be used instead to make the kids happy or their lives easier. But sometimes friends will want to help in some way.”
Katie Jackson is passionate when she says, “These children deserve a voice. Even though JHD is rare, that doesn’t mean they don’t deserve a voice. These children haven’t even had a chance to live. With [CAG] expansion, I think we’re going to see more and more cases of JHD. These are our babies. This monster has to stop.”/* Custom Archives Functions Go Below this line */ /* Custom Archives Functions Go Above this line */
IACP Conference a Huge Success
This article originally appeared in November 2014.
Frances Saldana, Tom Owen, Vicki Owen, and Sharon Thomason represent Help 4 HD International Inc. at the International Association of Chiefs of Police Conference in Orlando, Florida.
IACP Conference a Huge Success
By Sharon McClellan Thomason
A shocking video that went viral in September spurred the Huntington’s Disease community into action. The ten-minute video showed a young man in West Virginia, Jeffrey Bane, being held face down on the ground by four police officers, his face ground into the pavement, screaming for help and choking on his own blood. Bane has HD and had been stopped while taking his two young children to the park because he looked “suspicious” and appeared to be under the influence of alcohol or drugs.
Frances Saldaña, co-founder and president of HD CARE at University of California, Irvine, decided to take action. She first contacted Louise Vetter, CEO of HDSA (Huntington’s Disease Society of America) and asked that HDSA get on the agenda and have a booth at the 121st annual IACP (International Association of Chiefs of Police) conference in Orlando, FL, Oct. 25-28, for the purpose of educating law enforcement officials about HD. Vetter responded to the request by saying that her “advisors” felt it was better to build a strong strategy and relationship with the IACP organization before setting up a booth in October.
Vetter added that HDSA believed personal conversations with the police departments and using the “Tool Kit” (available on www.hdsa.org) would do much more to build relationships than setting up a booth, and that they would certainly work on getting on the agenda for next year. She said people wouldn’t be able to stop by the booth and have a conversation, and it wouldn’t do much good to develop a relationship with the law enforcement community with a booth.
In an email to H4HDI (Help 4 HD International), Saldaña asked if the organization would be interested in stepping in since HDSA would not. Passionate that this was an opportunity that the HD community could not overlook, Saldaña said, “Yes, they [law enforcement] are at fault for lack of education and mishandling situations like this, but we can also take some of the blame for not being pro-active enough to educate our police about HD.”
It was obvious from community response that Saldaña was right; something HAD to be done NOW. The original video, which has been reposted on multiple sites including personal blogs and news media sites, has been viewed over 120,600 times. The enhanced video, which can be viewed here (http://youtu.be/0Nb2ZPXuWIs) has an additional 25,438 views. “Justice for Jeffrey Bane,” a Facebook page set up by Bane’s brother, currently has 3,722 likes. Many members of the HD community expressed outrage and frustration, sharing their own experiences with law enforcement as well as those of their loved ones. A common thread quickly emerged: many of our loved ones with HD were being stopped and picked up because police officers mistakenly thought they were intoxicated or under the influence of drugs.
Melissa Biliardi, president and CEO, Katie Jackson, vice president, of H4HDI decided this was a project the advocacy organization needed to tackle. Biliardi contacted IACP and learned that it was too late to get on the speakers’ agenda this year, but that we could reserve a booth and talk to attendees and distribute materials.
Since the convention was taking place in Orlando, and I live in Florida, they asked me to be the point person. We recruited HD advocates Marsha Miller to write the copy for a trifold pamphlet and Diana Kastelic to help with graphic design, created a donation site to fund the expenses for the convention, and recruited HD community members to help man the booth. Our donation site quickly raised $4,660, and Lundbeck Pharmaceutical generously gave us a grant for $2,000 for the conference, followed by a second grant of $2,000 for educational materials.
Approximately 16,000 people from 84 countries attended the convention. About 250 people over three days stopped to talk with us. Of those people, only a handful knew for sure what HD is; most had never heard of it! We spoke with people from all over the U.S., Canada, Nigeria, the Bahamas, Ireland, England, Iraq, and Brazil, just to name a few of the countries represented there. One of the things that struck me the most was the interest and compassion that people expressed. They were shocked by our stories, and nearly every person we spoke with offered compassion and prayers, expressed a desire to learn more, and wanted more training. I left there feeling like we had expanded knowledge about HD exponentially.
T.W. Baker, Sr., staff sergeant at the Indialantic Police Department in Florida, said that he was so appreciative of the information we’d shared with him. He said that whenever a new family moves into his community, he makes it a point to go meet them and see if they have any special needs or circumstances. He added, “I try to teach my officers to look beyond what they see at first sight.”
Todd Kirchgraber, training director at St. Petersburg College, located in St. Petersburg, FL, expressed an interest in partnering with us to send trainers to advanced law enforcement officer training all over the country.
Vicki Owen, an HD advocate who lives in Sun City, FL, with her husband Tom, who was diagnosed in January 2010, helped hand out pamphlets and talked to attendees. She said the most important thing she came away with from the conference was “how receptive they were to hear our stories and how readily they gave us ideas.”
Other advocates who helped at the booth were Saldaña and Jeannie and Bob Grundborg. Both Frances and Jeannie lost two children to JHD; Frances has a son who is now in the end stages of the disease. My son, Randy Thomason, helped with setup of the booth.
Despite the fact that we had a comparatively small, low-tech booth (think shooting ranges, semi trucks, armored cars, and a helicopter!), interest in our message was high, and we had a much greater attendance than many of the more “advanced” exhibits. People were genuinely interested in the pictures, videos, and stories we had to share.
Our work is just beginning, though. There is much left to do, including filming and production of a training video and following up with the many people who shared their contact information with us. It’s an exciting journey, and one that proves that grassroots efforts DO make a difference!/* Custom Archives Functions Go Below this line */ /* Custom Archives Functions Go Above this line */