IHA 2001 - 14TH INTERNATIONAL MEETING OF THE INTERNATIONAL HUNTINGTON ASSOCIATION, 25-30 AUGUST         2001, DENMARK
INITIATIVES FOR YOUNG PEOPLE FROM HD FAMILIES

DOROTHY TORTELL, Social Worker, Huntington’s Disease Association, Wellington, New Zealand

INTRODUCTION

I am very pleased to have been asked to discuss initiatives for young people from HD families, because as many of you already know, the Wellington HDA places a great deal of importance on supporting the younger members of HD families. We believe that in addition to providing for the persons with HD and their family unit as a whole, we must also recognize the special needs of the younger members (up to the age of 25) of HD families.

The Annual Camp (now in its 8th year) is still our most important activity but it is not our only initiative for young people. In addition to providing ongoing support, advice and information as required, we also liase with schools, police and other agencies and provide them with information on HD. We also provide continuing support to those young people who are going through predictive testing. About a year ago we published a book specifically for young people - “Huntington’s and Me – A Guide for Young People”.

Our initiatives for young people have one aim in common - the provision of accurate and up to date information on HD as early as asked for. We believe that by giving young people the appropriate knowledge, we are empowering them so they can better understand, become more tolerant and cope with the often difficult and stressful family situation. It will also help them deal with the possible lack of nurturing and attention, the sometimes irrational behaviour of an affected parent, the unsympathetic reactions they may get from their peers, and the extra burdens and responsibilities that are often placed on them. They are also enabled to make informed choices regarding life options such as predictive testing, marriage, having a family and career paths.

THE ANNUAL HD CAMP

The Camp has now been organized every year for the past 8 years. The Objectives of the Camp have been -
• to meet others from similar Huntington's background and circumstances
• to share information and experiences about Huntington's Disease
• to support each other and by doing so, develop a mutual support network
• to have fun

The motto for these annual camps, chosen by the young people themselves, is – “We can and we will”, and this positive feeling is felt throughout the camp and reflects the young people’s attitude to HD.

While the Objectives have not changed, organizational aspects have evolved slightly from camp to camp as we searched for the best formula. There have been many issues that we have had to address and I will discuss some of these briefly -

Camp Participants

The participants come from throughout New Zealand and it is always necessary to find out as much as possible about each, their family background, their knowledge of HD and their special needs before they attend the Camp.

The numbers at each camp ranged from 15 to 34 campers, and camps with lower numbers are certainly easier to organize and feel more successful because of easier dynamics between campers.

The age range has spanned from 6 to 26 years. Although it depends on the individual, we believe that the very young age groups gain less from the camp and since 1999 we have set the minimum age at 12. At the other extreme, we set 25 as the maximum. However, many campers wanted to keep coming to the camp, regardless of their age, and they obviously still get a lot of benefit. As a result, the maximum age has been creeping upwards!

There are other issues which we are still working on, such as –
• Should those with Juvenile HD come to the Camp?
• Should the partners of those in steady relationships, come to the Camp?

Venue and Programme

The venues have ranged from the very simple with basic accommodation, not too far from main centres, to well-established outdoor pursuits centres in remote areas, that also cater for corporate team-building and self-esteem courses.

At the simpler venues, we had to organize and run most of the outdoor activities ourselves, with the assistance of volunteers and modestly paid professionals. The more sophisticated venues catered for an entire package including the outdoor challenges and other activities. This meant that I could concentrate on the HD aspects and the discussion sessions, and address the many HD issues that arose. We have concluded that this second model is a more successful one and will be used for future camps.

At each Camp there is always a mixture of indoor and outdoor activities and discussion sessions on all aspects of HD. Activities are selected to complement each other and contribute to the process of gaining information, enhancing self-esteem, learning mutual cooperation and support, and building trust in the “group”. Through this, a safe environment is created within which the young people become confident of their own abilities and the availability of mutual support when they need it.

For example, in the last Camp which was held at an outdoor pursuits centre in a mountain national park, the campers had the opportunity to take up the challenges of rope climbing, building their own raft and then sailing it down a wild river, hiking, caving, and climbing up to the craters on a dormant volcano. The climb to the craters in particular, was an excellent opportunity for mutual support and encouragement, and only through this was it possible for some campers to succeed in this challenge.

When the number of campers and the age range started to create difficulties in providing what we felt was the required programme, we experimented with two camps, one for the younger age group and one for the older ones. We had an overlap of 2 days when the two groups were together. However, it was not popular with campers of both age groups. They were very clear that they wanted one camp, for both age groups, but with separate, specialized sessions, to address specific needs. We have now adopted this approach and it is proving very successful, to the extent that some of the older campers are assuming a degree of responsibility for the younger ones.

Volunteers and other Helpers

For safety and other reasons, the selection of helpers is a very important consideration. “Good” volunteers are not easy to get and there have been some who needed support themselves. Those from HD families have a good understanding of the needs of the young people, but we decided not to have parents of campers as helpers since we strongly believe that the young people need to be at the camp without the influence of their parents – there is more freedom to talk, fewer inhibitions. “Professional” recreation specialists are vital particularly for the outdoor activities. They cater for safety aspects and are better in dealing with difficult situations.

It is never a problem getting sufficient volunteers, but it is important to select only the right volunteers, who are compatible, can work as a team, and have a supportive, non-judgemental attitude to the young people.

The words of one of our volunteers sum up the positive attitude that we look for in our helpers -

“I have the utmost admiration for the courage shown by each of the young people for even turning up at the camp and to confront and learn about HD. They were a special group of people who, like every teenager these days, faces an uncertain future but they are facing up to it with a determination, strength and maturity of awesome proportions.”

The HD Sessions

The HD sessions are what make our Camps different from other camps. It is what the young people come for. As one volunteer helper says - “The evening sessions on Huntington’s were for me the most interesting part of the camp. Each person involved demonstrated a great respect for the others’ personal situation and needs. There were times for discussion and questioning and times for comforting and consoling”.

The sessions are structured but flexible and informal. The rules are simple – everyone must feel safe; everyone must be tolerant and respect everyone else’s views, feelings and opinions; no one is interrupted when speaking; confidentiality is paramount; everyone is free to bring up any issue they wish to share and discuss with the group.

The discussions are usually initiated from questions which the campers are encouraged to place anonymously in a Questions Box – no topic is barred and all questions are discussed. Typically, the topics will include (depending on the age group) –
• What does HD mean to you???
• What are your goals/dreams???
• How will you take HD into account in moving towards your goals???
• What are your strategies to reach your goals???
• Solutions and strategies for coping and overcoming problems
• Where do you go to get help???
• Who is there for you???
• Problems and issues in looking after a person with HD
• Problems young people foresee for themselves
• Choices young people have to make
• Ways of coping with stress
• When should you know about HD???
• Issues around predictive testing
• Termination of pregnancy
• Sexuality and HD

There is a lot of crying, but also a lot of satisfaction; a lot of anger, but also a lot of achievement; there is a lot of frustration, but also a lot of understanding. And, above all, there is a lot of support and encouragement.

The sessions often go on well into the night. As one camper says - “The best activity of the whole camp was the one which you could just never organize. Some of the kids chose to sacrifice sleep and talk about life, hopes, dreams and how HD affects them, and their experiences with HD. It was a marvellous release for some to talk freely, without having to explain what HD is. We are all in the same boat; we all have to deal with HD somewhere in our families.” (Tara, 24 years)

The HD sessions often lead to tangible products such as drawings, poems, songs, etc, and many of these are contributed to the Huntington’s News. Some examples are attached at the end of my paper. One year we had a very effective mechanism for conveying all these emotions. Campers were encouraged to select a stone from a nearby wild river. This stone meant something special to them - the colour, the shape, the size or the texture. Each camper explained what the stone meant to him/her, and why, and they were encouraged to use it as a Astore@ for their special memories of the Camp. The memory stones were very evident during the HD discussion sessions.

We believe that the Camps have been very successful. Campers met other young people in the same situation and shared information on Huntington's Disease. They formed part of a group where those around them understood what they were going through and provided mutual support. They overcame feelings of isolation and left the Camp more confident and with an increased knowledge of Huntington's Disease. They returned home more resilient and with a better understanding of their family member with HD. The support network which operates between Camps was strengthened.

Each Camp achieved the objectives in full and the best indicator that this is so, are the writings of the young people themselves.

Before I came to the Camp, I knew nothing about Huntington's.
But after coming here and talking to people in the same position as me, it has helped because I now know what is happening to Dad and what he is going through and what I might have to go through in the future.
Hamish, 14 years

I'ts my belief that we, as youth, need this discussion space, need this love, need this understanding and most importantly, need this support.
Damian, 17 years

I'm happy to be here
with people who care,
I can't believe
how much we share
Our knowledge and feelings
are so much the same.
But I wish that I could find some BASTARD to blame.
Rowan, 20 years

THE BOOK FOR YOUNG PEOPLE

The Camp is an annual event but questions and problems arise throughout the year; and new clients come forward continuously. It became obvious that the advice, support and information available at the Camp needed to be available at all times – hence the publication of “Huntington’s and Me – A Guide for Young People”.

The book is written for young people first, but also for their families, friends and professionals. Young people have to come to terms with the fact that their mother or father or grandparent is not like most other people. The book acknowledges what young people experience and how they feel. It provides information about HD and offers strategies for coping with immediate and long term challenges. It is based on the experience of the young people themselves. The text is sprinkled with quotations of what the young people have been telling us about their feelings and experiences of HD. This makes it very alive and powerful reading, and young people can readily identify with it.

I hope that those of you who have read the book will agree that it is written in a very factual but also very “warm” way, avoiding a “clinical” approach. However, it also covers some issues that may be considered contentious, such as the predictive testing of the foetus and the option of termination. We decided that it was better to raise these issues and present the full story, as long as it was done in a sensitive and non-judgemental way. We have not had any negative reactions on this.

Many young people have commented that they wish the book had been available earlier when they were going through their “soul-searching”. Parents have written to say how useful the book has been in providing answers to day-to-day questions which arise in the HD family situation. It has also been used in the school situation during classes on genetics.

CONCLUSION

In conclusion I wish to read you two quotations from the writings about HD by young people, taken from : Huntington’s and Me – A Guide for Young People :

For dreams, I find, are my home, where I sit and contemplate life and its complexities.
I’d often wonder why things had to be so complex.
Why HD? Why Me?
After years of silent contemplation, I found myself speaking about the myriad options, the heavy choices.
The complex things we discussed have enlightened me and I have become a more beautiful person inside - With the techniques and knowledge gained here, and the depths of love shown by Aat risk and those Anot at risk.
It is one of the crowning and proudest achievements of my life.
Ben, 18 years

Fear is created out of a lack of understanding.
Get the knowledge.
As youth we need discussion, love, understanding, and most importantly support.
Sara, 17 years

Ethical Dilemmas

Michael McCormack, Ph.D.
Pathology, Genetics UMDNJ-RWJ

Huntington’s Disease is a genetically determined degenerative, neuropsychiatric disorder marked by a slow progression of cognitive, emotional, and motor decline. Of people afflicted with H.D. 90% show symptoms between the ages of 35 — 50 years old while 10% are symptomatic as juveniles.

H.D. is transmitted by autosomal dominant inheritance.

Diagnosis is primarily based upon a thorough family history, and presence of motor signs in the current patient indicative of H.D. There is a 50% chance of inheritance from the gene carrying parent. The likelyhood of gene expansion is increased when it is transmitted from the father.

Direct Gene test. Used for:

i. Symptomatic adults (confirmatory)
ii. Adults at risk (predictive)
iii. Fetus at risk (prenatal)

The protocol for testing can take anywhere from several months to a year. Psychological and neurological evaluation is done and if there are any signs of depression, genetic testing will be postponed. If clients decide to proceed with testing, they also must participate in post-test counseling where they are allowed to express feelings about the impact of the test result and are encouraged to adhere to their post-test plan.

Dr. McCormack noted that patients who discover that they do not carry the mutation may experience as much stress as those who discover that they are carriers, as non-carriers feel survivor guilt for having escaped the gene and cheated out of the time they spent worrying about HD.

Requires pre-test genetic counseling
• for educational purposes
• to allow time to learn of the implications
• to promote family participation
• to reveal possibility of non-paternity (10% occurrence)

Post- test counseling
• for educational purposes
• to allow for expression of feelings (e.g. survivor guilt)
• to promote adherence to follow up plan

Gene Characteristics:
Identified in 1993. Is present on the short arm of chromosome #4. The gene codes for a large protein called Huntingtin. The mutation is a tri-nucleotide (CAG) expansion within the gene.
When the gene is inherited from the father, it is likely that the number of repeats will increase. Thus, neither parent may be symptomatic, however, transmission of the affected chromosome #4 from the father may expand in the child resulting in the disease.

Early Signs.

• Motor: clumsy, restless, exaggerated gestures, drunken gait, chorea.
• Cognitive: disoriented, decreased recall, inattentive. Observed decline prior to motor signs due to neuronal loss.
• Behavioral: depression, anxiety, psychosis, insomnia, risk for suicide (due to loss of insight, decrease in pleasure, and high level of impulsiveness)A brain tissue cross-sections shows a loss of brain tissue.

Applications of Gene Test:
• Pre-symptomatic
• Diagnostic
• Prenatal
• Preimplantation (~$25K)

Interpretation of results

#CAG repeats symptoms

• approximately 40 HD allele, will have symptoms
• greater than 40 earlier onset
• 50 - 70 (or greater) children before 18 y.o.
• 36 - 39 phenotype possible, expansion possible
• 27 - 35 no symptoms - but expansion is possible
• <26 Normal allele

Note: Dr. Michael McCormack cited a case where a woman had one more repeat than her mother and she was symptomatic at 40, while her mother still showed no signs at 70. Beyond age of onset, we know very little about the variation in the progression of symptoms, for some individuals decline quite rapidly, while others experience a much more gradual deterioration.

Ethical Issues:

Time Survey.
• 62% would want to know results for themselves
• 64% would want to know results for their children
• 70% would agree to having unborn child tested
• 39% would abort affected fetus

Dilemmas
• The duty of the physician to the patient
• maternal authority vs paternal rights
• knowledge affecting employablitiy
• do affected parents have the right to have children?
• Do I have the right to know, for this knowledge would give knowledge of my parents and siblings?

Current policy: no testing of minors for pre-symptomatic diagnosis
More controversy surrounds the potential testing of minors. Currently, the United States’ policy is that, in the absence of symptoms, there is no need to test children for they may suffer from stigmatization from their parents, peers, and the school system in the event of a positive diagnosis.

Dr. McCormack stated that he felt uncomfortable offering this test to eighteen-year-olds, although he had only been in this situation twice. He noted that the two individuals he met were notably resistant to the counseling and seemed to lack strong support groups outside of program. He felt that the power of such a test warranted more maturity that the eighteen-year-olds demonstrated.

Students voiced the concern that setting an age limit was inappropriate given that individuals show different signs of maturity at different ages. While no resolution amongst the audience was made, clearly testing young adults is a complicated matter.

Potential discrimination:
• insurance, employment, housing, abortion of fetuses, religious conflict, rejection by spouse, or society.
• Impact of emerging biotechnology advances
• gene transplantation
• fetal tissue transplantation
• embryo manipulation
• Civil Action: - duty to warn. New Jersey, 1996
• 1999 appeal to NJ Supreme Court

Complexity of genetic privacy
Because HD is an autosomal dominant disease, the decision to be tested affects more than the individual being tested.
Dr. McCormack provided us with several such examples:

• for a child’s test violates her parent’s "right not to know," because a positive test would reveal her parent’s status as a carrier.

• cases of identical twins are complicated because genetic information about one twin cannot be divorced from the other.

• prenatal testing also creates some dilemmas, as some individuals might not want to know their own status, but would like to avoid passing a potential mutation on to their children. For such individuals, non-disclosing prenatal diagnosis and selective preimplantation are options. In non-disclosing prenatal diagnosis, parents can just test to make sure that the chromosome 4 donated to their child is the one they inherited from the parent that is a non-carrier. If it is from the HD parent, they will terminate the pregnancy without knowing if the chromosome they received from their HD parent contained the HD mutation.

While many anti-abortion activists have targeted geneticists as promoters of abortion, genetic testing has actually cut down on the incidence of abortion because many couples would have terminated pregnancies without knowing that the fetus was normal.

Patient Education and Counseling — Evers-Kiebooms
• Psychological impact of being tested needs to be researched with respect to survival guilt prenatal testing (pre-implantation screening) right not to know.
• Few people have gone through genetic counseling, but many of them opted not to test.
• Longer term studies necessary to know impact of being tested.
• Real issue is, if you have the gene, you will get the disease.
• Legislation for other diseases that are not 100% confirmed (i.e. those preventable or brought upon by environmental factors) could cause great problems.
• Problems with insurance companies.

Source:
http://www.molbio.princeton.edu/courses/mb427/1999/catalyst/week5.html