A Unique Struggle Against Juvenile Huntington’s Disease




Huntington’s Disease (HD) affects approximately 30,000 people in the United States. Less than 10% of these people are under 20 years old at the time of diagnosis. These patients with juvenile, or early-onset, HD and their family members face significant and unique challenges as they battle a fatal, degenerative disease.

Symptoms of HD typically present in the third to fifth decade of life, but symptoms may appear as early as the first, or as late as the ninth, decade. The variation in age at onset is likely due to the number of defective trinucleotide repeats on the short arm of chromosome 4. Within the HD gene, more “CAG” repeats implies earlier onset of the disease. (Most juvenile HD patients have 60 or more repeat segments.) There is contradictory evidence about the rate of disease progression and clinical manifestations of HD related to the number of trinucleotide repeats.

While most adults with HD show symptoms of chorea — rapid, involuntary, jerky movements — juvenile HD presents a symptom profile different than adult-onset HD. The most common symptoms in juvenile HD include rigidity, stiffness, awkwardness in walking, and slurred speech. Seizures are also common in younger patients. Chorea is typically not present. Onset of the motor difficulties is usually used to define the age at onset.

Also significant in juvenile HD patients are severe cognitive and psychiatric disturbances. Since these are often the first disease symptoms to appear in young patients, HD is often not diagnosed until later in the disease process. This is particularly important in cases in which family history is either unknown or negative for HD. The cognitive dysfunction and loss of motor abilities is more severe in patients with juvenile HD.

DepressionDepression is common in juvenile HD patients, as well as aggression and impulsiveness. Adolescents with HD are particularly vulnerable to impulsiveness related to sexuality. Seizures occur in approximately 25% of juvenile HD patients. Some medication therapies can be implemented to treat some of these symptoms, but may have unwanted side effects in adolescents. The only FDA-approved drug for management of HD is not appropriate for use in children.

As HD progresses, children with the disease will lose the ability to walk, talk, dress themselves, and perform activities of daily living. They will require constant care and supervision. There is no cure for HD, and care is focused on symptom management. The team of medical professionals involved in the care of juvenile HD patients often includes a pediatrician, neurologist, psychiatrist, social worker or genetic counselor, and speech, occupational, and physical therapists.

Children diagnosed with HD will gradually lose the ability to attend school, perform routine tasks, or care for themselves. Families need immense amounts of emotional support from medical professionals, family members, and friends. The average life expectancy after diagnosis for a juvenile HD patient is less than 10 years.

Juvenile HD is a devastating disease, not just for the individual affected with the disease, but also for the entire family. With such a small number of people affected by HD, and an even smaller number affected by juvenile HD, researchers and drug and medical treatment manufacturers are reluctant to invest too much time and money into HD. But, there is hope, and advocacy groups are gaining in strength and voice, and new treatment options are currently under development.

References

Aubeeluck A, Brewer H (2008). Huntington’s disease. Part 2: treatment and management issues in juvenile HD. Br J Nurs, 17 (4), 260-263 PMID: 18414272

E. Gomez-Tortosa (1998). Severity of Cognitive Impairment in Juvenile and Late-Onset Huntington Disease Archives of Neurology, 55 (6), 835-843 DOI: 10.1001/archneur.55.6.835

P. Ribai, K. Nguyen, V. Hahn-Barma, I. Gourfinkel-An, M. Vidailhet, A. Legout, C. Dode, A. Brice, A. Durr (2007). Psychiatric and Cognitive Difficulties as Indicators of Juvenile Huntington Disease Onset in 29 Patients Archives of Neurology, 64 (6), 813-819 DOI: 10.1001/archneur.64.6.813

Shihui Xing, Ling Chen, Xi Chen, Zhong Pei, Jinsheng Zeng, Jinru Li (2008). Excessive blinking as an initial manifestation of juvenile Huntington’s disease Neurological Sciences, 29 (4), 275-277 DOI: 10.1007/s10072-008-0981-7

  • Professor Yasser Metwally

    This post is indeed a very important one, describing juvenile huntington disease in such an easy way and a very useful and sinple way. This article is useful for both neurologists and and patients. I really agree with you about the differences between the juvenile and adult onset types of Huntington disease.

    Thank yoy very much for such an article
    Yasser Metwally
    http://yassermetwally.wordpress.com

  • debbie

    i hav been with my partner for 28yrs we met at 16 and went on to have 6 beautiful well mannered children when my partner stephen was diagnosed as havin hd he was only 32 life was hard as we also had a child our fourth who had cystic fibrosis and our youngest daughter was ill with chronic lung disease both had been ill from birth we both worked very hard and long hours to give them the best life possible stephen was earning less than me so it was decided he would stay home to care for the children at some point a few yaers later i noticed small changes in him i would come in frm work and the house was untidy the cuppas he used to make for me arriving home had stopped it was then i had to give my job up stephen became worse and i was now visiting hospitals every week with one of them when reece was 10 the doctors were no longer sure that reece had got c f 8 yrs of the wrong treatment had made him afraid of doctors i told them no more tests until they tested him for the most obvious illness sure as little apples he had juvenile huntingtons why didnt they listen to me years ago instead of fobbin me off saying its so rare he doesnt have that how wrong they were nd now my youngest is showing symtoms my oldest child is 25 he was always the nosey one couldnt keep a secret nd loved xmas u couldnt tell him any of his siblings presents or he would give them clues until they guessed so after breaking the news to the oldest 3 that there dad had hd my oldest said well if dad has passed it to us kids i want it to be me nd not my brothers nd sisters at 18 he had the test it was devastating news he had it aswell my life now is looking after my partner nd 6 kids 3 with jhd nd 3 at risk and terrified two of them are over 18 bt dont want a test i often cry in my room at night when i do sleep its for a couple of hours i would like to see more public awareness of this disease as not many people no what it is nd the people that do recoil in horror or pity for you i would also like to see more funding into a cure from this awfull illness lastly for all those carers and victoms out there be positive and happy with the time we have with our loved ones and maybe one day we can binn this disease

    • Tristin

      This breaks my heart to hear your story. My son Gabriel was just diagnosed with Juvenile Huntingtons. He is 6 year old and has displaying symptoms for three yrs. His father, grandfather and greatgrandmother all had huntingtons. My heart goes out to you in your time of need. Thoughts and prayers are with you

  • nina w

    MY SON STEPHON HAVE JHD IT WAS A HARD PILL FOR ME TO SWALLON I NEVER HEAR ABOUT THIS DIEASE UNTIL HIS FATHER GOT SICK SOMETIMNES I JUST WISH HIS MOTHER HAVE TOLD ABOUT THIS.HIS FATHER DIE AGE 29 NOW HIS ONLY SON STEPHON HAVE ITT NOW I SAW THE FIRST SIGN OF HORRIBLE DIEASE WHEN WAS 11 I WAS IN SPACE I DIDNT WANT TO BELEIVE MY WONEDFUL HANDSOME SON IS STRUGGLING WITH EVERYDAY LIVING SKILLS HES 17 NOW HE HAVE PROBLEM BREATHING NOW <strUGGLE EVERYDAY WITH HIS SPEECH, WALKING HIS JHD IS PROGRESSING FAST I JUST WANT IT NOT BE HARD FOR MY SON,I KNOW BECAUSE ITS HARD WATCHING YOUR CHILD SLOWING,DIEING AND FRONT OF YOU THIERS NOTHING U CAN DO ABOUT IT BET BELIEVE IM HERE ALL THE WAY WITH MY SON, HE HAVE DRA AND PLACE AND HES DONAR,HE NOT WORRYING ABOUT DIEING HE WORRY ABT THE PPL HE CAN HEIP WHEN HE GOES TO HEAVE, IM TRYING TO WRITE ABT HIS FATHER AND SON.

  • Patricia

    My boyfriend was diagnosed in 2008 at the age of 30 with HD. His CAG count is 56. We had him tested because at the time his 1st born daughter was having major medical issues. We had our 1st child together in 2006 and then in 2007 we had our 2nd. His mother died when he was 12 and she was never really talked about so I did some family research and found out she died at age 35 of HD. After receiving my boyfriends positive test result for HD I forwarded it on to the mother of his 1st born and she tested positive for JHD. She ended up passing away 2/16/11 at the age of 10. I recently got my children tested and both girls received postive test results. My oldest has a CAG count of 100 she is 6 years old and my 5 year old has a CAG count of 150. I am 32 years old and I have put my life on hold since I was 27 to care for my family. It is not easy when I have no support in the home. I work full time, take care of all the household needs, and a caregiver. JHD I believe should be taken seriously before deciding to have children. It does strike very young. I am living proof of it.

  • kay peterson

    Person’s who are aware of Huntingdon’s disease existing in their families have a responsability to be tested for the gene. For four critical reasons. That is to minimise the chances of ever passing this disease on to any future child, to have any possible spouse fully informed of the reality of dealing with a partner afflicted by the condition, to maximise research options in finding ways to understand the progression of the disease so that ways of least slowing the progression may be developed -which is more likely to come before a cure.Or to free themselves and any children of the looming shadow of the disease were they to get a negative result.
    Since the mid nineties, excuding persons with absolutely no notion whatsoever of Huntingdon’s Disease being in their hereditary or hereditary aware failed contraception conceptions, or rare failed pre implantation and other genetic testing results, there is no truly valid reason for any children born hence to have the gene these days or the Juvenile HD form.
    If an individual finds contemplating being positive for the HD gene too horrific to face, it follows that it’s even more horrific to pass this lethal gene on or put a semi aware partner through having a spouse so afflicted once the disease manifests.Fully aware spouse regarding the real risks of familial HD and all the ensuing implications are another matter, and ought to be likely to deal with the avoidance of such transmission to any possible children.Excuses of insurers or employers discriminating aren’t truly valid. The first aren’t allowed to and it’s in their interest to avoiding more persons coming up with closet HD. Employers may not either, until it would become relevant to the persons compromised capacity to carry out their work.
    Most of all the information of HD carriers is a moral obligation to: the HD community at large re research information and for health needs re support of the future, and more so to prevent future victims of this lethal disease.Particularily children who could be come Juvenile victims.

  • kay peterson

    My prior comment isn’t made without compassion for the complex issues, fears and familial distortions in minimising the horror of facing the knowledge of being positive for the HD gene. In 1998 I worked in a 1yr pilot as a large regional case worker fot HD affected families through the state organisation. I do have a fair understanding with full compassion of the dilemmas and suffering as well as extrapolated hopes of perons living in the shadows of HD. I did always fully support persons to only go as far as they wanted to go or not get tested in my past role. I could do this genuinly then, accepting how they needed to view and deal with things to cope. Ironically things regarding information, even occurances of Juvenile HD were actually well enough progressed and really not so different than from today. Those I dealt with weren’t ready to easily take my prior comments actions then.Nor did I have such a clear view then. What stuns me that so many from families that have HD in relatives aren’t moving forward to recognise that as sorry for themselves as they have every right to be, they won’t take the needed steps to eliminate the diseases continued impact and suffering of all it touches. Nor recognising that they have a moral higher obligation to contribute to this constructively. That action of early testing, followed by other responsible choices and openess goes beyond their private miseryand it’s temporary amelioration, or that avodance before adds far more pain in what they bestow on future children when it’s too late to have avoided that. Prevention counts far more than belated fund raising or activity of education re the HD arena.Not saying the last activities aren’t important too.

Jennifer Gibson, PharmD

Jennifer Gibson, PharmD, is a practicing clinical pharmacist and medical writer/editor with experience in researching and preparing scientific publications, developing public relations materials, creating educational resources and presentations, and editing technical manuscripts. She is the owner of Excalibur Scientific, LLC.
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