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April Newsletter 2002

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PERSPECTIVES

Vol. 2 Issue 13

April 2002

IN THIS ISSUE:

1) Dreams, Goals, A Mentor and My Own Animal Planet - by J.J.

2) Stress Relief and This Old House - by Stuart H.

3) The Pleasure of My Modified Driving Van - by Alice R.

4) Windows on My World - by Mike M.

5) Disability, Procreation, and Hope - by Paolo Vinci, M.D.

1) Dreams, Goals, A Mentor and My Own Animal Planet - by J.J.

It's no secret that CMT doesn't affect our brains. I must have

intuitively known this, as my childhood dream was to become an

astronaut. Never mind women weren't even much involved in the " space

race " , and my hero, Glen, was male. As an only child growing up in

the country, I learned to be alone comfortably and nature gave my

imagination freedom. While my friends built treehouses, or played with

dolls, I continued to build 'flymobiles'. Only problem was I keep

falling out of the cockpit and none ever got off the ground!

During my teens I had two serious CMT foot surgeries that kept me out

of school for months on end; good thing too, as I was quite bored. My

parents hired a special tutor who came 4 days a week and made sure I

kept up my basics in English, Math, History and Science. Somehow going

to school in bed was a lot more fun than those musty classrooms and I

did not have those fire drills to contend with.

Martha was an interesting tutor in many ways; perhaps the most

intriguing issue was she had survived polio. She walked with 2 canes and

had a brace on one leg. As our relationship developed, I discovered

Martha was the smartest, bravest, and neatest person I ever met. Forget

Glen. I had a new hero! She was quick to pick up my interest in

sciences, the natural world and animals (ok, so my 2 dogs and 4 cats

attended our tutoring sessions too!)

I continued meeting weekly with Martha during the rest of my high school

years. I suppose my parents " arranged " this, but her influence on me

made me who and what I am today. This was all way before " mentoring " was

a common word and " disability awareness/rights " were issues. She did

much more than just make sure I passed English. To this day I credit her

with enhancing my self-worth and self-esteem; which has carried me a

long, long way.

Sometimes we would just take short walks in the woods as our abilities

allowed and watch nature unfold from our " secret spot " . This was a

lovely, shady, woody glen next to a creek and beaver damn. What a

'school' that was! Or we would meet for a soda and burger in town to

talk. In many ways, I grew to love Martha, I suppose she was like a big

sister to me --one I didn't have and always wanted.

Martha helped me prepare my college applications and calmed my fears

about flunking the SAT tests. We stayed in touch all during my college

years and met as often as possible. One day during my junior year she

simply said " Now what? " There I was caught off guard, I hadn't thought

much father ahead. " What are your goals, your dreams, what do you want

to accomplish in life " , she questioned further.

Goals. Dreams. Accomplishments. Life. It appeared CMT just had melted

invisibly into the whole pot, thanks to Martha's " you can do anything,

so long as you try and work hard " approach to my life! So I told her I

would be majoring in Biology. She seemed pleased and the next thing I

knew Graduate School catalogues started arriving in the mail. Can you

believe it? All this from one tutor who cared enough to be interested in

me getting along OK with CMT in all aspects of my life.

I read and read and read. Zoology, Botany, hmmm, just WHERE WAS I

going? And then, there it was larger than life " Veterinerary Medicine " !

It turned on like a 150 watt light bulb! I first shared this discovery

of new direction with Dad, who seemed a tad worried it might be too

demanding for me. Then I sprung the news on Martha. " OK, great, I knew

this all along, but you had to find it yourself! " So, onward to filling

out more applications (just 2 schools) and taking some extra elective

work my senior year to 'prove' I was 'academically worthy'.

I was accepted at both schools, and attending my first choice for what

felt like the rest of my life. Demanding? Of Course! Was I tired? All

the time! Did I ever think of giving up? Just about every other day!

But I didn't! I graduated among the top 2% of my class after all and

now, years later, have established my own small animal clinic with a

colleague. Our patients are mostly cats and dogs, with a few ferrets, a

raccoon, snakes, several birds, turtles, and rabbits.

Not too long ago I arrived at work earlier - 5 am to catch up on

paperwork in the morning's peace. Someone had left a skunk with a

broken leg and five babies in a box on the clinic doorstep! Who needs

Starbuck's at that hour with six scared skunks in your face?!

After a rabies check and x-rays, I set the mother skunk's leg and we

placed the babies in an incubator to nourish and keep them warm. Soon,

they calmed down and fear left, then mother and babies were reunited in

a special, secure area of my office. I didn't even think about getting

sprayed. I just did my job and hoped for the best.

Soon the skunk family had nicknames and the babies fattened up. The

family was the hit of my clinic and received much attention, care, and

yes, even special treats. We supplemented their diets with extra

nutrients - in other words, we bottle fed them! I especially enjoyed

watching their littermate antics and once Mrs. Skunk's leg healed, she

was a doting mother. I crated them at night under a heat lamp, as skunks

are nocturnal and I had a messy desk of papers needing to stay put!

I hated to part with them, as I do all my 'patients', but I found the

skunk family found a nice home at the local wildlife reserve, with

plenty of habitat-specific plants, trees, flowers, ground cover, etc.

and some new critter pals to boot!

Meanwhile, Martha and I continue to write, call and visit often. She was

witness to the Skunk Family recovery and just kept saying " I am so proud

of you, what's next? " AH! THAT question!

What's next for me now is to set new goals: included in this is a

Part-time teaching position, (including mentoring!) along with time for

research, and eventually putting my ½ of the clinic up for sale. Yes,

goals spur me on to new adventures. I'd also like to do some wildlife

rescue work. Maybe it is time to meet the grandkid-skunks? Who knows?

And Martha continues to be a blessing to me, her wit, wisdom and grace

over the years have sustained me like nothing else. She's older now so I

make most of the trips to see her. When her dogs Buster and Phideaux

bound down the drive to greet me, I feel I am coming home. She has

taught me so much, about disability, about self-defeating limitations

and about who I am. And she tells me how lucky she is to know me and

reminds me, after all, how many people have ever had the opportunity of

bottle feeding a skunk?!

So you see, the kid who wanted to discover the planets as an

astronaut,did in fact 'discover herself and her own 'animal planet' as a

Veterinarian!

2) Stress Relief and This Old House - by Stuart H.

Enjoyment of pastimes gives me great pleasure and releases stress. For

this reason, and my passion to preserve history, I restore old homes in

my spare time. Well, really, I do mostly minimal work, or shall I say

the 'expensive' part! I buy, move, gut and start over with a beautiful

empty shell. I contract out the major carpentry, electrical and other

building work, as I am too busy with my real job, and everything must be

brought up to code before further work can be done.

Then comes the fun part; researching the history of the home and

restoring staircases, window boxes, turrets, nooks and flooring. I like

to let my mind wander through the house, savoring the life that once

lived there. I imagine, the people, the families, the festivities of

years gone by. Yes, this is a great stress-reliever for me!

From wallpaper to antique doorknobs, I will try to restore a home as

close as I can to its original state. Sometimes my children accompany me

to antique stores and I have discovered this is a very interesting way

of teaching them about history.

Maybe I only spend one weekend a month on a project, but it is deeply

satisfying. My current project is a turn-of-the (20th) century,

n. My goal is to have it completed by Fall 2004! Yes! That's

right - 2004! That's because primarily on this fun stressless endeavor,

I don't set goals as I do in my 'real world' job nor am I accountable to

partners. I work at my own speed on my own time. That's what makes it

fun and almost easy!

When a house is finished, I am thrilled! Some joy, some relief, but by

then I am ready to sell, as the fun for me is in the 'process' After a

good sale follows, I meet with the new owners to " let my baby go " and am

off to look again for Another Old House!

3) The Pleasure of My Modified Driving Van - by Alice R.

I purchased my modified van in May 2000. How and why is the subject of

this article.

My first symptoms of CMT showed at age 3 in 1941. I believe the

diagnosis was made at age 11 after a muscle biopsy and EMG. Foot

deformity was very rapid but was corrected by night splints designed and

made by my father, a precision machinist and mechanical genius. Through

a progression of braces, triple arthrodesis on both feet, a walking

stick, AFOs, and crutches over the next 57 years came the time for an

electric scooter any time I'm outside the house.

For 37 years I drove my faithful VW bug. Obviously I could not transport

my scooter so I depended on my husband to load the scooter into his VW

camper, deliver us and return later for the trip home. Needless to

say,we both wanted more independence for me, so the search for an

appropriate vehicle began.

I posted requests for personal experience on several web sites but got

no useful replies. Edmonds.com, an automotive information site, started

a forum for special drivers' needs but the only information I got there

was from a mechanic who recommended the Dodge over the Ford Windstar as

being easier to service. I could not have a Honda, my first choice, or a

Toyota because no one was adapting them. Basically, I was left pretty

much on my own to make this major decision.

One of my first decisions was selecting the person who would be

responsible for maintaining the adaptive equipment. As luck would have

it the perfect couple live in my hometown with their business located 20

miles away. They recommended Vantage Mobility International for

quality,reliability and customer service. In Santa Ana, CA at the

Abilities Expo, I looked at vans in different configurations from many

different companies.

I chose a side ramp for safety reasons. Even a slight rear end accident

can jam a rear latch and leave a person imprisoned. Not a pleasant

thought. Next choice was a slide out ramp over the fold up so when a

passenger opens the door nothing is in the way. With a toggle switch I

can choose to have the right rear kneel to lessen the slope. If

the ramp fails it can be manually extended or retracted by an able

bodied person or by a ratchet tool that takes lots of time but almost no

strength. A disadvantage is less ground clearance and the chance of

scraping or mashing the exhaust pipe. So far, I have identified only two

driveways that pose a problem.

I test drove a Ford Windstar with a hand control to be sure I could

manage it. I have no grip strength but my hands are pain free. The hand

control was a revelation but I felt closed in by the design of the

" cockpit " . After I got the Dodge it took about 10 minutes to know that I

would be comfortable with the hand control and one-hand steering. My

maintenance man added a parking brake operated by pressing a toggle

switch. My husband designed a tie-down specifically for my scooter and

worked with a machinist to build and install it. It's an aluminum bar

that fits over the scooter floorboard onto two upright posts and is

secured with two metal pins. It takes only seconds to secure with no

fumbling with straps and clasps.

Cost is a major factor. My choice was $16,450 plus the cost of the van.

I consider it money well spent because independence is mine. I go where

I want, when I want. Since I plan this van to last my lifetime I needed

to be careful with my choices. My van is a pleasure to drive and I

believe I made the correct decisions.

4) Windows On My World - by Mike M.

Fun as a 'stamp collector'? Not! Stamps were for nerds, so I

thought.But, as my life 'grew up', two types of stamps have become a

great source of fun for me and given me unique " windows on my world " .

As a child of the Consular Corp, often my sister and I were given

various postage stamps from countries of visiting dignitaries. This was

seen as a gesture of friendship from children of one country to

another.Now, my sister could care less, and being older, was more

interested in boys, so, you guessed it! I became the sole owner of some

incredibly designed and handsome foreign stamps.

I spent hours and hours at a huge table sorting, cataloguing, and

guarding my prized cache! How I loved this time alone to consider these

mysterious lands I had not traveled yet, or people I had not yet met.

Considering this all started when I was about nine, I now have walls and

special frames for my stamps, and I am still collecting! I loved the

people, buildings, commemorations and designs on these stamps.

As I grew up and we continued moving and traveling the globe, my stamp

collection grew! And now, I was also collecting passport stamps! Ah!

What fun! Both types of stamp fun connected me with our world and her

people in a very unique way.

I have a special office where I keep all my stamps, some in frames, some

in special acid-free wraps and boxes, and some just on my desk to marvel

at. My stamps from Egypt of the pyramids and my stamps from the World's

rain forests countries are among my favorites. In addition, I have

recently purchased two of the first edition CMT stamps that I found out

about through our group. Certainly an eclectic collection!

While in Egypt on a dig for school, my host family, having saved many

old letters, simply sat around the family area evenings and started

cutting. I was early getting home one night, and came upon this weird

scene - I couldn't figure out what they were doing!!! Once I entered the

room, they stopped, and quickly put everything away!

On my last evening with them, after our meal and party, my hosts and

friends presented me with a big box! What could this be? After all I had

already bought every T - shirt in the country! Slowly, carefully, I

opened the elaborately dressed box! Peering inside, I saw literally

thousands of postage stamps, from all year and dates, from Egypt, Africa

and parts of the Middle East!

I was simply astounded! They had cut the stamps off all old letters AND

asked their friends to do the same - all of this was a surprise to me -

nobody let me in on this! I estimate this took a few months' time, since

I was there for most of the summer. My gratefulness knows no end to such

kindness and generosity. Many of the stamps date far back into the

reaches of postal history, and gave me much to learn and study. My

gratefulness for this gesture knows no end. My host family and I are

still in touch, even though my recent studies and digs are taking me in

opposite directions.

I have not been much into trading or exchanging, but now with the new

U.S. issue of attractive 'states' stamps, I just might - after all,

since my many world friends have asked ME for a 'window' on MY world!

Now, for the passport stamps - over the years I managed to fill up many

pages; even some countries would not stamp the Consulate Corps, I would

beg. And those stamps serve as another type of 'record' of my life. My

old passports are worn and torn and I have protected them in special

pouches. But not before I made bright copies of each stamp - to frame

and make notes upon. I also found the coloring is more intense this way

and many details not previously noticed, emerge.

So, within my home office, along with my graduate work, piles of books

and papers, tests to correct, hung elegantly on the walls, surrounded by

a world map, are my special 'fun' insights into a world of greatness I

have come to know. I have seen some magical lands and met some of her

people. What is important to me is to keep going - despite any CMT

'challenges' because I am not done yet! I know there are more " windows "

to open!

5). Disability, Procreation and Hope - by Paolo Vinci, M.D.

I have been asked to write about procreation in case of CMT, both as a

physician who visited and spoke with hundreds of CMTers and as a patient

affected with quite a severe form of CMT since the age of six. Since I

live in Italy and almost the totality of my patients are Italian, what

I'll say is the result of an experience made in Italy and that may be

not valid in other countries.

For example, in Italy it is not easy to find or change a job, even if

you do not have CMT. So in case you have CMT, unless you have a

recommendation to get a public employment, you risk to remain unemployed

all the life (especially in case you are severely affected or you could

not get a master's degree) or to be fired in case your boss realizes you

are not normal.

In addition, the Italians are very worried about aesthetics: girls must

wear miniskirts and heeled shoes, men must be full of muscles and wear

shorts while playing soccer. If you are different, you risk to be

isolated, which is frustrating especially in adolescence.

One of the most important problems for a CMTer is related to the

acceptance by a healthy partner of the risk of giving birth to a sick

child. A healthy partner may love and accept a CMTer with walking

problems, but not to have a not-normal child. The only idea of this may

upset him/her.

Speaking with my CMT patients, I realized that they all worry a lot

whether to procreate or not. Most of them, especially the women, are

really scared about transmitting the disease to their children. Almost

all the parents who have children affected with CMT were not aware of

having a hereditary disease before procreating them. Especially in case

of onset in infancy and a severely form, they generally say: " If I had

known before, I would have avoided making a child. "

This is probably the result of their sensation of failure in giving

their child the same chances as other children. These parents are also

worried about the problems their sick child will face in their future in

the society, as described before. In addition they are stressed by the

management of their child's disability, obliging them to take him/her to

physicians, physiotherapists, orthotists, instead of enjoying childhood.

In no case a decision not to have children was made because of worries

not

to be able to grow children up, because of a parent's CMT.

These same considerations made me decide not to have children. Of course

it was a personal decision, a suffered decision. It was based on my

personal experience in a society where the handicap is still seen as " a

mark of shame " and the disabled person is not respected (e.g. even the

policemen park in the reserved places for the disabled!).

Perhaps if I had lived in another place, my decision might have been

different, I don't know. Perhaps if I had not started with those ugly

AFOs at the age of 11, my decision might have been different, I don't

know. When I decided, I thought that there are millions of healthy

children who die of hunger and that in case in the future I felt the

need to feel myself as father, I might adopt one of them.

However, I think that any decision about procreation is up to the

parents'. As a physician I inform them about the percentage of risk of

transmitting the disease and about the possibility (in most CMT1 cases)

to know if the fetus inherited the pathological gene, in order to decide

whether continuing pregnancy or not. I also inform them about the

gravity of the specific genetic defect, if known: for example, CMT1A due

to duplication is never very severe, whereas there are some point

mutations that cause severe muscle wasting of the distal and proximal

muscles and there are some CMT2 forms where the disease is more severe

and starts earlier in the second generation.

I hope that scientific studies comparing the disease gravity in each

genetic form are made soon, in order to allow couples to decide with

better awareness.

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