A Tale of Two Heriditary Diseases, Parts I, II & III



 

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----- Original Message -----
From: Phillip J. Hardt
To: Huntington's Disease Discussion
Sent: Saturday, March 18, 2000 11:08 PM
Subject: A Tale of Two Heriditary [sic] Diseases (Part 1 of 3)

[Paragraphs added for clarity.]

Since I was "lucky" enough to inherit two genetic diseases, Hemophilia B and Huntington's Disease, I wanted to compare and contrast both with the intent of hopefully helping someone else who is "at risk" or "diagnosed but still asymptomatic." A lot of the planning and preparation that I did on account of the Hemophilia B could also benefit others and make their lives a lot easier if they ever become symptomatic and cannot work any more. It's rather long but may be worth the read......Phil


MANIFESTATIONS
Let's start with Hemophilia. In addition to being recently diagnosed with HD, I was diagnosed in 1971 as having Moderately Severe Hemophilia B. Approximately 5000 males in the entire U.S. have type B Hemophilia. Type A hemophilia is much more severe and more common. As soon as I started learning to walk I also started getting bruises all over my little arms and legs and torso. Back then, in 1956, Hemophiliac's were only known as "free bleeders" but at least there were the bruises as constant reminders that I had something the matter with me, and I was able to adjust my life accordingly- no contact sports, etc. I was also born with HD, but was not diagnosed with it until March, 1997 because it's symptoms didn't begin manifesting themselves until late 1996.

Since HD's symptoms begin so subtly most of them go unnoticed at first, unlike the painful bruises that stayed for months as reminders of the Hemophilia I had also inherited. Because of it's unexpected onset while in the prime of my life at 41 years of age, no plans were made to protect my family and I from its destruction. We knew about hemophilia on Mom's side of the family before it was even named such, and before I was even born. It was too fresh on Mom's mind as my older brother Gary had recently died from an internal bleed to his head after falling off a teeter-totter. Unfortunately, we didn't know of the HD "timebomb" that I inherited from my Dad, ticking away inside of my body, waiting to unleash it's awful destruction. In fact, no one even knows whether it was transmitted to Dad and two of his brothers from his Mom or from his Dad. Back then, when people had problems, they generally kept things to themselves.

In addition, many of the signs of HD, such as forgetfulness or chorea-like movements of the head and limbs would have been passed off as "old age" and signs of cognitive impairment would have been blamed on "senility. Any inappropriate emotional or sexual behavior would have been blamed on having a "mid-life-crisis." Whereas both the hemophilia B and HD were present at birth, the hemophilia B manifested symptoms right from the start and allowed me to adjust, plan and compensate, in order to still maintain a fairly good quality of life. Since HD did not begin manifesting it's symptoms in me until mid-life, most of the major decisions in my life had already been made, such as amount of education, family size, amount of insurance, debt, and employment decisions. I was lucky, most are not, and by the time they recognize HD's subtle symptoms, it's too late to change the past and prepare for the future.

 


----- Original Message -----
From: Phillip J. Hardt <phardt1@home.com>
To: Huntington's Disease Discussion <HUNT-DIS@MAELSTROM.STJOHNS.EDU>
Sent: Saturday, March 18, 2000 11:09 PM
Subject: A Tale of Two Heriditary [sic] Diseases (Part 2 of 3)

INHERITANCE
I inherited Hemophilia B from my Mother. It is always passed from Mother to
son, with the son being the one to show symptoms. With my Hemophilia, my
two biological daughters would automatically be carriers because of the
affected "x" they would inherit from me. They would not have Hemophilia "B"
themselves but each of their sons would have a 50/50 chance of inheriting
it. Thus the disease will "spare" or skip their generation but potentially be able to affect the next. The disease could not be passed on to my biological son because he would get my unaffected "y" chromosome. It stops with him, period! In contrast, HD can be passed on by either the father or the mother. In my case I inherited it from my father. However, each and every child from the parent who has HD will have a 50/50 chance of inheriting it, regardless of their sex.

EDUCATION AND PREPARATION
Because of the monetary burden of purchasing factor to stop bleeds,
inevitable hospital stays, and lengthy therapy sessions afterwards, we were
frequently encouraged by the Rocky Mountain States Hemophilia Clinic to
pursue a college education in order to become "gainfully" employed with an
employer who not only had affordable group medical insurance, but also group
life insurance coverage without exorbitant premiums. We were also
encouraged to pursue a career where we could use our "brain" power instead
of "brawn" because of the crippling affects of the disease to muscle joints.
In contrast, since we knew so little about HD we were totally unprepared for
its devastating consequences like loosing my job so early, not being able to
plan ahead, etc. Luckily my hemophilia had already began to prepare me for
the day I became symptomatic with HD, otherwise I seriously doubt that I
would have had the foresight to pursue an education and start working for a
company who offered these type benefits. Anyone can do the same with a
little hard work and planning.

With the unsurity [sic] of my life span with hemophilia B we decided that when I went back to college, Laura should do the same thing and then her degree would be yet another type of "life" insurance. Our thinking was that if she ever needed to go back to work, she could start at a higher rate of pay, instead of struggling to get by on minimum wage. We also decided to get credit cards in Laura's name and charging a little bit on them so she could establish a credit record in her own name, just in case. Luckily, since we had just adopted two more children before transferring between divisions, the Human Resource
representative was adamant that I take out short-term (STD) and long-term
disability (LTD), just in case anything happened to me. (I foolishly told her that I was never going to have anything happen to me because at this point in my life, I felt invincible!) Her promptings turned out to be one of the greatest blessings we as we would not been able to make it now without having both of them.

 



----- Original Message -----
From: Phillip J. Hardt <phardt1@home.com>
To: Huntington's Disease Discussion <HUNT-DIS@MAELSTROM.STJOHNS.EDU>
Sent: Saturday, March 18, 2000 11:09 PM
Subject: A Tale of Two Heriditary [sic] Diseases (Part 3 of 3)


PASSING IT ON
I knew the odds and the consequences of passing on Hemophilia B to my
grandsons, because I had already experienced them growing up. Because of a
little common sense from our family doctor, I was able to strengthen my
joints through weight lifting, tennis and swimming to the point that I had
very few serious bleeds into them. I knew that I had to pursue other
interests beside contact sports, and these turned out to enrich my life
tremendously. Practicing piano, band and choir filled up the void left when
I had to quit all contact sports. Needless-to-say, because of the "quality
of life" which I was able to enjoy, I wasn't afraid of passing on the
hemophilia to my children's children. In contrast, this is one of HD's
greatest irony's: By the time most of us had become symptomatic and
realized that we were having serious problems, chances are we'd already had
our own children and they were now old enough to begin having children of
their own too.

Its bad enough to know that you've inherited this incurable degenerative brain disorder yourself, but it's even greater mental anguish to realize that you have potentially transmitted it to every child and grandchild you already have and the only way they can find out for sure, before going down life's path too far is to be tested. By this time, your symptoms are beginning to be more pronounced and they have the option of ignoring them and going on with life, or placing themselves under a microscope and blaming every little twitch or forgotten task, or emotional change on the disease before they find out for sure.

MEDICINE
Since the 1970's, there has been clotting factor available, although it is
very expensive. The Factor 9 that's missing from my blood can be injected
into my blood stream to assist my blood to form a normal clot. Once the
clot is formed the bleeding stops, just like in a normal person. Most
hemophiliac clotting factor is now recombinant, or man made, thus avoiding
the potential side effects of HIV and hepatitis B and C. In contrast, HD
does not have any medication to delay or prevent it's occurrence, in fact,
all that can be done for HD is to treat it's many symptoms as they manifest
themselves. And then, many of the medicines used to treat the symptoms have
side effects that mirror the disease symptoms itself, making determining
whether its the disease progression or medication almost impossible.


 


Phil Hardt     phardt1@cox.net    602-309-3118
 

 
 
         
   

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