Huntington's disease...
In our specific case, it took the medical staff (U.P.C. St. Jozef Kortenberg and U.C. Gasthuisberg) more than 3 years to diagnose my wife B.B. was suffering from Huntington's disease and then only after a tip from B.B.'s sister.
How did BB's sister know as there were no other known cases of HD in my wife's family.
HD is a genetic disease that you get by inheriting a defective gene. for HD from one parent.
Every child of a parent with the defective gene for HD has a 50/50 chance of inheriting the gene, no matter how many children that parent has.
If you do not inherit the HD gene, you cannot get the disease and you cannot pass it on to your children or their descendants.
If you do get the HD gene, you will eventually get the disease.
HD always manifests itself if you live long enough. It never skips a generation.
As a genetic disease, HD is referred to as "a disease of families." In many families touched by HD, more than one family member may have HD at the same time.
Many relatives are at risk of later developing the disease. Nearly every member if the family has been a caregiver to a parent, brother, sister, son, daughter, aunt, uncle, grandparent, or grandchild at one time or another.
Similarly, this person in your care must likely see one of his own parents suffer with HD.
Just as the winter snow was always deeper and the summer longer through a child's eyes, this horrible disease probably appeared worse from a child's perspective.
Feelings of guilt or sadness may be stirred in the person with HD. He may think about how he might have already passed the gene on to his children.
Or he may worry that is brothers and sisters will get HD, too.
His family may have struggled to care for him at home For as long as possible.
They are very knowledgeable about his preferences, and have learned how to meet his care needs.
They may be very helpful to you.
When family members visit him in the nursing home, they may be silently thinking of the day when one of his children may need this same kind of care.
Visits by children, bothers, and sisters can be as difficult for them as they are for the person with HD.
For at-risk relatives, each visit can be another confrontation with the disease they might get themselves.
Although people can first exhibit signs of HD at any age, most people first show them when they are in their 30s and 40s.
Thus, HD is described as an "adult-onset disease."
In the prime of his life, he may discover that he has HD, that each of his children may have inherited the gene, and, if so, will eventually develop the disease.
More than likely, he had settled on a career and was, in many ways, a well-adjusted adult.
These achievements will now have to be given up, one after another, along with his plans and dreams, as HD runs its destructive course.
As a progressive disease, HD begins very subtly and only the person with HD, close friends or relatives, and the trained eye of a physician can detect its earliest signs.
It progresses in stages, slowly advancing for many years.
It usually takes at least 15 years for the disease to run its course, sometimes longer.
Particularly during the last half of those years, the affected person will need help with household chores and personal care.
As a caregiver, you can help by anticipating changes in function that may trigger new concerns and preparing in advance for each new set of challenges that you and the person for whom you are caring will encounter.
There is also a juvenile form of HD. Occurring in about one in ten people with HD, it looks different from the adult version. Usually the person is stiff, rigid and slow, may have involuntary movements that look more like tremors, and may experience seizures.
Juvenile HD worsens more rapidly than adult-onset HD.
Since January 2010 B.B. is staying in Home Marjorie a nursing home specialized in HD. Before that she was hospitalized in the AOP nursing division of the U.P.C. St. Kamillus in Bierbeek. The AOP nursing division is specialized in several disorders that the patient was not born with. AOP is also sort of specialized in HD as there are always several HD patients residing in this nursing station.
How did I or my family suffer from Huntington's disease:
In my recollection, the first HD symptoms started after the birth of our children somewhere in 1997.
We had just started a diving business as B.B. was an avid diver and skilled ice skater, but then slowly the symptoms and side effects started:
- First B.B. was laid of at UCB chemicals in Gent (after 11 years of service as a production engineer, research engineer, automation project manager automating UCB's plant in North-Augusta South-Carolina US), probably because she did no longer function at the level of a skilled and trained civil engineer.
I guess this was the first implication of HD. - Slowly but certainly B.B. became very fearful as a diver and she forgot about techniques she previously had mastered with brilliance.
And shortly after stopped diving, which is not a good sign if you are the owner operator of a dive shop. - B.B. broke her arm during skating although she had been skating during 25 years at nearly top level.
- B.B. started developing a strange walk.
- B.B. graually lost interest in the business, the dive shop etc.
Then we started experiencing several years of mood changes and bad temper.
One minute B.B. would be behaving like a bitch, the other minute she could act fairly normal again.
I pleaded her several times to discuss her multiple problems with a MD, but I think the disease was already too advanced and she was not aware about the symptoms visible to me and hence could not describe or wanted to discuss her problems with a MD.
As we speak today (September 2009) B.B. is still sort of concious, and every week-end she is still coming home from Saturday afternoon till Sunday evening but I can nearly see a decline every week, both physically and mentally.
Luckily for me and my family the mood changes are now oppressed by medication.
Another issue with HD's disease is that it's occurrence is much lower than for example Halzheimer's disease, meaning that there is less research hence a treatment is not foreseen for any day soon.
Even for Halzheimer there is no treatment although there is now good hope that the development of Halzheimer can be slowed down.
A cure in these disease is never possible - dead brain tissue will stay dead. Currently there is no Dutch or French translation available from this text, but I will write that translation any day soon.