Julie fought to save brother Bill from HD (family photo).

By Julie Rosling

My name is Julie Rosling and I am at risk for Huntington’s disease. I live in Orange County with my husband Reed and our three cats. I go to work every day as a pharmacist and live a seemingly normal life. Not once while I was in pharmacy school or doing my graduate work in genetics was I prepared for what my family was about to face upon learning first-hand about Huntington’s disease (HD). Now there isn’t a day that goes by that I don’t dwell on the cause and cure of HD and wonder what I could have done to save my brother’s life.

The vast majority of families who have suffered through the loss of loved ones from Huntington’s disease have been aware of the possibility of being at risk because they’ve seen or heard of other relatives who had the disease. But, with the e xception of myself, no one in my family had even heard of the term, “Huntington’s chorea,” as HD used to be known. As far back as we could trace, none of our relatives had the disease or displayed its symptoms. So, it came as a complete shock when my brother Bill was diagnosed with HD in 1996.

Bill was a very bright, positive, and outgoing individual. He graduated from college, received a MBA, and served in the Air Force. He had a wife and three children. Probably the first indication that something wasn’t normal occurred when he lost his job working for the City of Fresno. This led to a breakup of the family. Bill’s wife left town, moved back in with her parents, and took the children with her. Coincidentally, my father died of a heart attack, and my brother moved back home with my mother after losing his home in foreclosure.

My sister Joyce and I knew there was something not just right with his behavior, but he refused to see a physician. After he was hospitalized for a hernia repair, my mother was able to convince him that he needed to see someone for “counseling.” Bill ended up seeing a psychiatrist at the VA hospital. Mother drove him to those appointments that he agreed to keep. He often refused to get into the car with her, and missed deadlines often, but we were unaware that he was suffering from paranoia. He was able to hide his disability from us. When people saw or heard him, they would assume he was on drugs or was an alcoholic, a common perception of HD people. To counter this image, he wore a suit and tie every day when he took the bus to the library or wherever he went.

Disbelief

After months of seeing Bill, the physician at the VA said he suspected that Bill had Huntington’s chorea. The doctor said that the last time he had seen a case was many years ago when he was still in medical school. He asked Bill and the rest of the family if he could tape my brother’s speech and motor disabilities for use in their teaching program.

My description of the disease to my family was that HD was like a combination of Alzheimer’s, Parkinson’s, and Lou Gehrig’s diseases. However, since I had been taught that HD is an autosomal dominant disease due to a genetic defect, I did not truly believe that Bill could have this horrendous and debilitating condition. There was no past history in our family, and a new, spontaneously generated genetic defect didn’t even seem remotely possible. I requested proof, stating that for the sake of Bill’s children and the rest of his family, as well as ours, we had to confirm or rule out the diagnosis.

The HD gene was discovered in 1993, and I was vaguely aware of the lab test for its e xistence. I was able to read and understand articles on HD, and so my family depended on me to keep them “educated” in what we were being told about Bill. I was able to convince my mother and my sister to go through the necessary counseling and testing for HD.

The Genetics Department at Children’s Hospital in Fresno was instrumental in apprising us of the results of Bill’s test, which unfortunately were positive for HD. My sister tested negative, as did my mother. Knowing the ramifications of the results, I was able to assure Joyce that her children and their children would not be at risk for HD. I was also able to instill relief in my mother in the sense she now knew that she was not responsible for “giving” her only son this dreadful, non-treatable, always deadly disease. She was also able to tell her side of the family that none of them would get HD.

My father died in 1981 at the age of 69 from the complications of a second heart attack. He had had open-heart surgery some years earlier, amazingly at the same hospital where we later received the results of Bill’s HD test. My grandfather on my father’s side also had heart problems, and died in his early 50’s, so we could not find a possible HD link there. My paternal grandmother lived to be 95 and died peacefully in her sleep. However, someone on my father’s side of the family had to have HD in order for it to surface in this current generation. More on that to follow.

Finding support in San Diego

I spoke with the HDSA people in New York. They suggested that I align myself with the HD support group in San Diego. UC San Diego evidently had the most research being done, and if I wanted to “be on the cutting edge,” I needed to become part of its study groups.

The San Diego support group also had a number of at-risk individuals who would be able to share personal e xperiences with me. If I, too, became symptomatic for HD, I wanted to be in a place where I could be “first in line” for the cure. All of the staff, professionals, and contacts I made from my initial meeting with the clinicians at the VA hospital in La Jolla were wonderful, caring, and helpful with all of my questions. They have been there for me ever since my brother was diagnosed with the defective gene.

Now back to my brother. My mother continued to allow Bill to stay with her at the house. She was very protective of him, refusing almost to accept the fact that there was something radically wrong with his behavior and demeanor. Joyce and I were at wits’ end, trying to determine what we could do for both of them. The local HD support group had no one who knew what could be done. Finally, my mother decided to find an apartment for Bill that would be close enough to her home to check up on him daily. By now the e xpected involuntary movements were becoming more apparent, but unlike most early HD sufferers, he already had paranoia and the beginnings of dementia. He refused any and all medications, which might have been of some help to him.

Then my mother died at home of a stroke. She always said she could go to her grave, knowing that it wasn’t her fault that Bill was sick.

I went back to Fresno to help my sister with the arrangements, and also to check on my brother. I found someone who still understood what he needed to do to survive. However, he had stacked his apartment, from floor to ceiling, with unnecessary things he insisted on keeping. My brother-in-law helped him get dressed for mother’s funeral, but we weren’t sure he understood the situation. He called her answering machine for days afterward, eventually stopping when we told him again that she had died.

Finding a facility

No rest home, long-term care facility, or institution wanted to care for Bill because he had HD. Joyce tried every possible living arrangement listed in the phone book. She asked for help from our church, co-workers, and friends who had elderly relatives, leaving no stone unturned. Over and over again the facilities would ask about Bill’s current health, and they would refuse admittance to him, sight unseen, based on their preconceived ideas about HD patients. Because Bill had been out of work for so many years, we were also faced with the cost of food, clothes, housing, and future medical e xpenses. Bill refused to cooperate because in his own mind he was just fine.

Finally we found a long-term care facility that would accept Bill. It was located about an hour’s drive from Fresno. We were assured that this home knew how to care for individuals with HD. We were also able to obtain financial aid from the state.

Unfortunately, Bill did not want to leave his apartment in Fresno, and Joyce was forced to have him removed by police officers. After 72 hours of observation in an initial intake facility in Fresno, he was transferred to the long-term care facility. At first he was housed with other individuals with various health problems, but no one with HD.

Escaping the home

The second day Bill scaled a 12-foot fence and started walking toward the highway. He had motor disabilities, but he knew he didn’t belong there. Luckily, one of the day workers recognized him as being a patient. The facility then placed him in their “lock up” area to prevent “elopement,” as they called it.

Not once was he assessed for depression or his general psychological fitness. Bill withdrew from the rest of the patients who were in late stages of Alzheimer’s or Parkinson’s, since they couldn’t communicate with him. He also withdrew from the staff because they were keeping him there and forcing him to take a shower and do other things.

Bill was still ambulatory and could dress and feed himself, but he needed e xtra time for safe swallowing. He found a special spot in the eating area away from the rest of the patients where he could swallow in some privacy. He was aware that he had to be careful in terms of falling, but refused to use a wheelchair. He really presented a problem to the staff because of his young age, his lurching gait, and the fact that he had only mid-stage HD. They truly did not know how to care for him, since the only HD patients they had seen were in the final stages of the disease.

Solving a mystery

As I learned more about HD, a number of theories were being put forth about age of onset, probable length of the affected gene, and transmission of the disease. I asked HDSA to send me literature that I could share with other members of my family. I contacted a cousin who was one of three male children from my father’s brother. He knew my brother, and had seen him before and after his diagnosis. I sent pamphlets, e-mails, newsletters, and any current articles I could find to keep that branch of the family in the loop. Now one of the three is symptomatic, and another has the gene, but is still asymptomatic. We now think that my uncle died from HD, and not Alzheimer’s, as was told to the family.

What does this mean? The first obvious answer is that both my father and his brother had the defective gene. All humans have the huntingtin gene, which is essential for brain function, but in some people it is too long and therefore causes HD. Normally the gene’s CAG nucleotide repeats number no more than 30. HD people usually have 40 or more repeats. The length of my father’s and uncle’s CAG repeats was probably between 35 and 39, a gray zone where individuals do not show symptoms but can pass on – especially in the case of males – a larger repeat number to their children.

Another possibility is that it was my grandmother, and not my grandfather, who transmitted the defect. She could have had a low number of CAG repeats in the gray zone, but her male children then transmitted higher numbers to their children

These are the reasons why HD suddenly appears in previously unaffected families. If this is proven to be true beyond a doubt, then this current generation will be one in which many new cases of HD appear.

Emergency brain surgery

A little over two years ago Bill fell and hit his head. No one thought he had suffered any damage until a couple of weeks later, when he could no longer feed himself and his speech became slurred. Apparently everyone thought he was just entering the ne xt stage of HD.

He was taken to Fresno, and the hospital staff there decided to do emergency brain surgery, after finding evidence of two subdural hematomas. He survived the surgery and was sent back to the long-term facility, where he received 24-hour nursing care.

He had been given a NG (naso-gastric) tube for feeding and was doing OK until it started bothering him. He fought to remove it himself.

Joyce and I were asked to attend a meeting of all of the staff members who were treating Bill. They wanted permission to remove the NG tube, and replace it with a J-peg, which would feed him directly into the stomach. We did what we thought would be best for his nutritional needs and agreed to the J-peg. Bill died two years ago, not of HD, but of pneumonia he acquired by aspiration of food into his lungs. Because he was using a J-peg, it was a mystery as to why he died this way.

Unique survival tools

How did I manage to get through all of the struggles to find adequate care for Bill? I believe that my background in pharmacy and genetics helped immensely. No one knows why we do things when we do them and going back to school wasn’t in my immediate plans. I was working as the in-charge pharmacist at the Student Health Center at CSU, Fresno, and found the opportunity ripe to obtain an advanced degree. Why did I choose genetics? I can’t tell you why, e xcept I thought it was a neat field, and that many diseases might be eliminated with gene therapy.

The other coping mechanism I had was being able to look at things factually rather than as personal events. My family depended on me to clue them in as to what was being said about Bill, and how he was being cared for and treated. I in turn had to learn everything there was about HD to apprise them of the facts. The library at the School of Medicine at UCI in Irvine was a wonderful place to find necessary articles about HD. The HD Support Group in San Diego was a place for me to tell everyone what I had learned, and we continually shared new information among the members.

I have been reluctant to climb on the bandwagon and try unapproved medicines and herbs to slow the onset of symptoms. Because I know about blind-study drug studies, it is always in my mind that if you are taking something already to prevent HD, any new study with a possible treatment or cure, could not include persons already self-medicating. I have been on an anti-depressant for a number of years (not to prevent HD), and I’m sure it has helped me cope. Some researchers have suggested that the use of Prozac-like drugs may actually slow the onset of HD. I continue to take my medication.

Yet another battle

Unfortunately, anti-depressants do not prevent cancer. In November 2003 I had my annual mammogram. It was abnormal. Again, we had no family history of cancer. After an ultrasound, I was sent to a breast specialist here in Orange. He did a needle biopsy, and I was told the lump was malignant. I had a lumpectomy in January 2004, went through si x months of chemo, and then a unique form of radiation. I am done with all treatments, passed my most recent mammogram, and e xpect to live cancer-free. Did all the stress from worrying about my brother bring this to a head? Who knows, it might have just been the pressures of “living in Orange County.”

Today I am very adamant about finding a cure for HD. I have seen over and over again how this disease is badly misunderstood by staff in many hospitals and long-tem care facilities. This does not occur in isolated situations, but seems to be prevalent everywhere. Not only is there discrimination against HD patients, but no one seems to understand the many different “faces” that the disease presents.

Unfortunately, HD does not have a “poster child”, and much of the funding for research comes directly from HD families. We desperately need to focus on research that is being done on either preventing the onset of the disease itself, or that which stops and/or reverses the progression of the disease.

San Diego researchers Dr. Elizabeth Thomas and Pam Foye-Needle as well as other researchers, truly understand the “need for speed” in making this the last generation with HD. Their labs must be given the necessary funding to continue their important research. The HDSA Center of E xcellence at UC San Diego, directed by Dr. Jody Corey-Bloom, also needs support.