This memorial website was created in the memory of our loved one, Rikki Joanne. Much loved Daughter, Sister, & Auntie.

03-07-80 to 25-10-07

We love & miss you Rik & will cherish your memory forever.

Please feel free to light a candle to remember Rik.

THE ROSE OF OUR FAMILY

The below story has been copied & edited from HDAC where I first wrote about the event leading up to Rikki being diagnosed with 

Juvenile Huntington's Disease.

I met Rikki's father when I was 18. We didn't stay together very long because of his behaviour toward me, which I learned much later was typical of Huntington's Disease (HD)

                        

During the time we were together he once told me his father had died of Huntington's disease, but he didn't explain much other than it was a mental illness. I couldn't imagine that an illness so devestating exsisted so I didn't ask further & just accepted it. I had no reason for it to bother me. Never once did I consider HD or its consequences.
After we parted, I discovered I was expecting. I already had one little girl and though I liked the idea of another baby, I didn't want one on my own as a young single parent & I had chosen to have nothing more to do with the baby's dad. I couldn't abort, so I decided it would be kinder to have this baby adopted. I believed this would be better for her, for Sarah and for myself too as I was hardly in a position to bring up the one I had by my self, let alone more.

                        

Family & friends who knew me well enough didn't beleive I would go through with adopting her out, but I was determined I would, right up to the moment I looked at her. When Rikki was born on the 3rd of July 1980, something inside me melted. I took one look at her tiny screwed up red face as she lay beside me screaming her head off & knew I couldn't go ahead with my decision. So home she came with me & her big sister.

                        

Five years later, my next door neighbour, whose daughter was married to Rikki's dad's brother, told me that Rikki's dad had been diagnosed with HD. He then went on to explain Rikki's 50% chance of inheriting it and its terminal outcome. I don't remember anything between that conversation & going to talk to a specialist at the hospital. other than fear. I recall the specialist telling me that one day a test would be available, but Rikki wouldn't be able to have it until she was 18. He said I should have her sterilised as soon as she was at a certain age, so that there would be no risk of passing it on to any more children.
He also told me that people under the age of 40 didn't develop HD & that most of them are around the age of 60.  It didn't occur to me then that Rik's dad was younger than that.

                        

My biggest initial worry was taking away Rikki's right to have children. I figured that if she wasn't going to get this disease until she was over the age of 40, then her children could have grown up by then & anyway, we, her family, would be there to take care of her children for her, if, by any chance, she couldn't. 
I had no idea how a person could be affected by HD or how a child could suffer growing up with HD in their lives due to the way HD affects their brain? I didn't consider that these potential grandchildren could inherit HD either. Nor did I have any information to tell me different. I had no input or info from anyone until Rik was about 12.

                        

After a lot of thought, I decided it would be better for the girls not to forget that Huntington's was a possibility for Rikki's future. I thought it would be easier for Rik to 'always' have known about HD than to find out when it could interfere with her dreams for her future or come as a terrible shock to her at a time when she was at a vunerable stage in her life.

                        

In 1993, I remember a lady from Oxford hospital coming to visit me at home to talk & update me on the progress of the test that was now available. While she was there, a question suddenly came to mind, so I asked it. I don't know why…I had never considered it before, but I found myself asking if children could develop HD? She told me that it was extremely rare & quite unlikely.

                        

As Rikki turned 13, I noticed changes in her. There was typical teenage behaviour, but there was also something else I couldn't quite put my finger on. It was not just the change in her daily behaviour, moods & aggression, but I could see something else yet I couldn't say exactly what it was I could see. (In hindsight now, I can say that Rikki's symptoms began around the age of 9.)

I asked friends & family if they could see something. Their answer was always no. They said that it was typical of teenagers to behave as they did...its in their job description. Having one teenager already that fitted the job description well, I tried to accept that reasoning, but yet something about her, still niggled me. I just felt it was more than teenage hormones.

                        

I surprised myself one day by asking her out of the blue if she was drinking alcohol or taking drugs…but I surprised Rikki even more. The look on her face was total shock. I knew Immediately that that was not the reason for the difference in her. So I continued to puzzle over it while at the same time, trying to push the thoughts away.

                        

I'll never forget the night I found out. You may think me strange for admitting this, but, as I was dozing off to sleep, I heard a voice clearly say "Rikki has Huntington's disease". Suddenly I was wide awake and from that moment on, I knew without a single doubt that she had it. I didn't need for her to have a test to confirm it, but of course it did. I have to tell you, I had never heard voices before, nor has it ever happened since. It was strange!.

                          

I called Oxford hospital the next morning and told them Rikki was displaying signs of having HD. It was arranged for Rik to go and see a neurologist. We arrived for the appointment and I tried to explain to the neurologist why I thought Rik had HD but I still could'nt describe what I could see because it was so slight. I also had no idea of any of the symptoms I should have been aware of. I reckon when I told her of the voice as I was falling sleep, she must have thought I was a total crank, not that I blame her. I might have thought the same too if someone was coming to me for such a diagnosis of their child, with no actual hard hitting facts for thinking so.

                         

After our 'chat', she did various balance tests with Rik, which she passed with flying colours, then she proceeded to tell me that she could see no signs of HD and advised me not to be paranoid and that I shouldn't wish this kind of disease on my daughter. I was mortified. I tried to protest, but no words would come out of my mouth. I left her office with in tears.

Within no time of leaving there, I wiped away my tears. I knew she was wrong and I knew that she would soon see that. My conviction was that strong. Fortunately the neurologist wrote to Rikki's school telling them of my fears for her and they replied saying they had not only noticed a decline in Rikki's school work, but Rikki was constantly falling out with her friends too (a typical symptom I now know is unreasonable behaviour & lack of reasoning. We were called back for a second appointment and the test was arranged.

Feb 5th, Rik and I sat in the reception room, waiting to be called in to be given the results. I still had no doubt what they would be. I had spent time preparing my daughters for the worst and Rikki and I had talked about it a lot. I told her all that I knew, not that that was a lot, really. Someone told me that they could become chain smokers, so I remember telling her that. Funny what things stick in your mind, isn't it?

                        

I talked to her about death & tried to impress on her that it was nothing to be scared of. That it would happen to all of us, one day, somehow. I told her we were fortunate to be able to prepare for what we knew & to be able to make the time we had together count. I promised her we would do all we could to make her life happy & comfortable. I tried to make it feel that a positive result was not going to be devastating.

                          

Anyway, back in the office, we were given the positive result.
I have never been so impressed with another being in all my life, as I was with Rikki that day. Although I hoped I was wrong, I had decided that I wouldn't fall apart in front of Rik, so I held back my tears. She needed to know we would be ok. Inside I was shaking and felt sick.  but on the outside I was calm & accepting.
But Rik? ...One tear. One single solitary tear trickled down her cheek...& her words? "What about you mum, how will you cope when I die?" The lump in my throat threatened to choke me.

                        

The only question she wanted an answer for was how long might it be before she had to use a wheelchair. She dreaded having to use one & so didn't want to. To this day, whenever I remember it, I feel my broken heart being filled with pride, all over again. That a person so young can be so brave and not concerned for herself but for me, her mum. It still never fails to amaze me when I remember that time.

The neurologist apologised for her wrong impression of me.
That was over 14 years ago .I have learned so much through Rikki since then. If she could be so strong for me when just being given such devastating news, then I would try and remain that strong for her throughout her lifetime.
If she can so bravely cope and never have sympathy for herself, then I would try to be that way too. If she could continue to be happy and make the most of her life as she has, with a smile on her face, then I would try to be that way too.

I can't say I always succeeded, but I never forgot for too long to keep trying.  I am so proud to have been the mother of such an amazing girl!

A bit about Huntington's disease

Huntington's disease, which is often called HD, is an hereditary disorder of the central nervous system. It used to be known as Huntington's Chorea or HC. Huntington's disease usually develops in adulthood and can cause a very wide range of symptoms. The disease affects both men and women & children.

Huntington's disease is caused by a faulty gene on chromosome 4. The gene, which produces a protein called Huntingtin, was discovered in 1993.

In some way - which is not yet understood - the faulty gene leads to a damage of the nerve cells in areas of the brain, including the the basal ganglia and cerebral cortex.

This leads to gradual physical, mental and emotional changes.

Each person whose parent has Huntington's disease is born with a 50-50 chance of inheriting the faulty gene. Anyone who inherits the faulty gene will, at some stage, develop the disease. A genetic test is available from Regional Genetic Clinics throughout the country. This test will usually be able to show whether someone has inherited the faulty gene, but it will not indicate the age at which they will develop the disease.
The symptoms of Huntington's disease usually develop when people are between 30-50 years old, although they can start much earlier or much later. The symptoms can also differ from person to person, even in the same family.

Sometimes, the symptoms are present for a long time before a diagnosis of Huntington's disease is made. This is especially true when people are not aware that Huntington's disease is in their family.

The early symptoms include:

Slight, uncontrollable muscular movements
Stumbling and clumsiness
Lack of concentration
Short-term memory lapses
Depression
Changes of mood, sometimes including aggressive or antisocial behaviour

Great strain is put on relationships if unexpected temper outbursts are directed towards the partner. The time before a diagnosis is made can be very confusing and frightening because people do not understand what is happening and why.

Some people who know they are at risk spend time searching for the first signs that they are developing the disease. They may worry about simple things like dropping a cup, forgetting a name or becoming unusually bad-tempered. Most people do these things occasionally - whether they are at risk from Huntington's disease or not - so they could be worrying unnecessarily.

Later on in the illness people experience many different symptoms which may include:

Involuntary movements
Difficulty in speech and swallowing
Weight loss

As well as emotional changes resulting in:

Stubbornness
Frustration
Mood swings
Depression
Cognitive changes that people experience can result in a loss of drive. Initiative and organisational skills, which may result in the person appearing to be lazy. There also may be difficulty in concentrating on more than one activity at a time.

Sometimes, psychological problems, rather than the physical deterioration, cause more difficulties for both the person with Huntington's disease and their carers. Some changes are definitely part of the disease process although they made be made worse by other factors. It is depressing to have a serious illness and extremely frustrating not to be able to do things which previously seemed simple.

In the later stages of the disease, full nursing care will be needed. Secondary illnesses, such as pneumonia, are often the actual cause of death.

What treatment and help is available?

Currently there is no cure for the illness, but there are many ways to manage symptoms effectively.

Medication can be used to treat symptoms such as involuntary movements, depression and mood swings. Speech therapy can significantly improve speech and swallowing problems. A high calorie diet can prevent weight loss and improve symptoms such as involuntary movements and behavioural problems.

Social services in your local area can assist with practical issues such as appropriate adaptations to your home where necessary and they can also help with care at home or respite care. They can also assist with the provision of equipment if necessary.

A referral can be made through your local GP.

The Huntington's Disease Association produces a full range of literature that looks at these problems in more detail. We also produce literature for professionals who are involved in care.

Juvenile Huntington's Disease

Juvenile Huntington's Disease (JHD) refers to anyone who develops signs or symptoms of HD before they are 20 years old. It is a relatively rare condition and only about 5% of people affected with HD will develop symptoms this young. This can make it quite an isolating experience for the person affected by HD, their family, and any professionals that are helping them.

HD in young people can present differently to HD in adults, although this is not always the case. Children, and to a lesser extent teenagers, with HD are more likely to show rigidity of the muscles. It is less common for them to show the chorea (involuntary movements) that is often seen in adults with HD. Epilepsy can occur in some people with JHD, and this occurs more commonly than in adults with HD.