My story

Foreword     

When you hear for the first time about a disease you don't know, you want to know more about it of course, since it is new to you!

You will search for information from newspapers, books or the Internet. The information you want is sometimes hard to find. This is one reason I created this website, to display information about the Werner syndrome. Another reason is to get in touch with fellow sufferers of Werner syndrome, and to talk about it. I hope this way I succeed.

New patients are still being discovered, and of course it's sometimes not detected, in many countries the medical knowledge is not sufficiently developed. Patients with the Werner syndrome can be entered in the International Register in Washington (USA). It is on a voluntary basis, without the consent of the patient there can be no investigation. There are taken a few tubes of blood at the local hospital and sent to the University of Washington, so there can be a DNA test.

Development of the patient (like atherosclerosis, heart disease, sarcoma, type 2 diabetes and cataract), is in interest for the International Registration, so the investigator's team can get a better picture of the Werner syndrome in patients. More of this can be found at the werner syndrome register.

My story

Written on 03/06/2011 to Netherlands

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My youth

To begin my story I want to write that everyone, including every story is unique, at least here is my story, I tried to write as clearly as possible.
To tell my story I must go back in time to link the first appearance between symptoms and the Werner syndrome.

I guess I was about 12 years old, (it was the year 1988) when I first went to a clinic for my flat feet, X-rays of my feet were made.
The specialist said I had an extremely flat feet, and there probably a surgery had to be done at the tendons in the foot.
Fortunately that was not necessary, but since that moment I had insoles (a metal plate) in my shoes, and when that was no longer needed, I always wear sturdy shoes.
On the age of 18, I didn't used the insoles and now wore sturdy shoes. All very normal because there are more people with flat feet.

On the age of 14, I received a prediction from the school to hear what my final height would be if I was an adult. The prediction (with a growth spurt included), had to be feasible to 1.85 m (average length between parents + a few cm) but eventually I was 1.72 m, a growth spurt hasn't been received.
I'm always been slight of build and I have always had an underweight. My voice has always been high, as far as I remember it, I never got a heavier voice (people laugh at you sometimes).
I have a small head and a small nose (he does not really shaped point out), compared to the rest of my body, I also have bulging eyes. I have always had thin arms and legs, and I didn't get easily burned by the sun, In recent years I burned faster by sunlight. When I was 19 years old, I got my first gray hair, first it was a few hairs at the hairline, at the age of 30 I had become completely gray. Overall, I experienced a carefree childhood without much trouble.

So far so good, there's nothing wrong, and ............ the Werner Syndrome , there was no one who ever heard of it!!!!!

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The further story     

After finishing my school and graduating, I went to work in the company business of my parents. This meant, much physical work and many hours (approximately 60 hours a week), and in 2005 I took over the company business, the work I've always really enjoyed doing.

The cataract, a period that started it all

I can't really say when I noticed that I could see less, maybe it caught up.
In 2007 tragedy hit it, I had more trouble with my eye-vision (like reading the newspapers became increasingly difficult, in traffic I suffered from the light of oncoming traffic).
It looks like you are walking all day with your head in the fogg and everything looks gray. At that point I thought, maybe I should have some glasses, so I went to an optician and an eye test was done, I could see nothing, the optician said, "just go to an eye-specialist", In this reaction, I went to my doctor (who I barely knew), and I have taken the test again (I couldn't see again), but now I had the referral to go to the eye-specialist.
In late 2007 I went to the eye-specialist, and he told me I had kataract, the right eye had a eye-vision of 30%, and the left eye had a eye-vision of 70%.
The reaction of the eye-specialist was, "How strange, cataract at the age of 31, how do you get that? Can I send you for further research? ".
I agreed with this, even I found it is strange, this is common by people with an age of about 60 years or older?

In December 2007 I got my first cataract surgery, the right eye had to be done first because it was the worst, my surgery was under general anesthesia, this was because the eye-specialist was afraid that the eye would be mobile and the operation would not succeed. Read on what this is all about. The operation was so well done, followed by surgery in January 2008 on my left eye, and the operation went also well.
All in all, it takes 3 months to recover, but ..... I was so happy that I could see everything again.

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The period of further investigation!

Time passed, I had a new job and had already forgotten that I had been referred for further investigation. Then I got a letter in February 2008, of the foundation of Clinical genetics, if I wanted to come along for a genetic testing. Questions were asked about relatives and whether more cases of premature aging occurred. There was also asked to bring photographs of family members and myself at a younger age for assessing the physical characteristics. There was drawn a brief family tree, but I knew no one who also had symptoms.
Subsequently, a physical examination, and noticed that the joint of my two little fingers were shortened, the flat feet, the gray hair and high voice were noted. When the skin was examined, I got this "unpleasant" feeling when the clinical geneticist said, "You have a very tight skin, I will get someone here to look at it". Then the head of the department came to me, and found it was strange, she had never seen this before, the "unpleasant feeling" remained with me.

In July 2008 I received another letter, if I wanted to come back for a follow-up visit, to talk about my tight skin, low subcutaneous fat, and my sensitivity to sunlight. Also, there were X-rays taken of my hands and the X-ray photos of my feet that were taken years ago at the clinic, this was used for further research. This was the first time that I heard of the Werner syndrome, the clinical geneticist was not sure what it was at that time.

So there were taken several tubes of blood for 2 DNA tests:

DNA testing based on scientific research about the Werner Syndrome, it takes place in America (Washington).

DNA study of a gene whose clinical genetics knows that the atypical symptoms of Werner syndrome might lead to this was conducted in a laboratory in the Netherlands.

the results would be given in about 6 months later.

Back home I immediately went looking for information about the Werner syndrome, I could find little about this, but what I found shocked me. It was all very similar to what is going on with me, but given the occurrence of the Werner Syndrome, I thought,
"this can't be, chances are too small".

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The results     

The genetic counselor called in early September 2008, asking if I wanted to come on 30 September for a conversation.
At that point I thought, maybe there is more information needed that I haven't told, not thinking of the results, because after all I would only get the results in about four months.

On 30 September the clinical geneticist told that the results from America was there, hearing this was already a bit of a surprise. Of course I blamed nobody, how could I, sooner or later I would recieve the results anyway.

DNA research in America found out that you have the Werner Syndrome , this is what the clinical geneticist told me, the news hit me like a bomb, and I needed time to realize what this means.

At that moment I was thinking:

Would there be no mistake in the DNA test? I am almost never been sick before!

What does my future look like, how many years would I have left?

How about personal relationships, can I have children?

What will happen if I will not be able to work?

Many questions remains unanswered, of course, you don't know how the disease progresses. But fortunately, so far there are no further complications, except sometimes fatigue complaints.

Late September 2008 I was referred to the internist, I semi-annual physical examination, and where control, blood is taken. Every 2 years there's gonna be a bone density research , at the first measurement there is a mild form of Osteopenia established.

Read on for more about my story

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