Not letting rare type of dwarfism define me

2014-09-18 15:35:01 by April Helm, as posted on the inside.akronchildrens.org blog.

I recently addressed several children and teens participating in this year’s Asian Services in Action’s summer program, which is headed by my mom, about journalism and writing careers. I recently addressed several children and teens participating in this year’s Asian Services in Action’s summer program, which is headed by my mom, about journalism and writing careers.

The Internet is a pretty amazing place.

Yes, it has its drawbacks and dangers, but nothing can rival its power at connecting you with people. I’ve reconnected with countless friends I had lost track of over the years and, more recently, I made contact with other people born with the same condition that I have: Conradi-Hunermann syndrome.

This is something I never dreamed possible because Conradi’s is very rare. According to the National Organization for Rare Disorders, the number of babies born with CHS is roughly 1 in 100,000. In my 40 years, I had never seen or heard from anyone else with this form of dwarfism.

I was born in April (hence my name), on the same day as my great-Grandpa Brubaker.  I imagine my parents had a lot of fears, uncertainties and worries about having a child born with a rare disability, but they seldom, if ever, showed this.

On the contrary, my parents always urged me to do what I dreamed of doing – including things I didn’t think I was capable of. I didn’t always appreciate that as a child but I have come to realize how lucky I was getting my parents.

 

Complications of Conradi’s


I consider myself very lucky all in all. A lot of complications are possible with CHS, including troubles with the heart, the kidneys, skin, and conditions such as scoliosis, cataracts and alopecia (hair loss), among other problems.

I managed to avoid the worst two – the heart and kidney trouble. I have cataracts in my left eye and have trouble with depth perception, although my right eye is good.

So those 3-D posters that were all the rage in the 90s, and 3-D movies today? Totally wasted on me.

I have alopecia, mostly on my scalp. I’ve worked around this with either hats or wigs. I like to get a new wig every once in a while, in a radically different color or style from what I had been wearing. What can I say?  I like to keep people guessing.

Me in my “Holly Hobbie” phase Me in my “Holly Hobbie” phase

Because the cartilage doesn’t form right, I have some stiffness, but nothing too limiting. I recall once reading something about how babies who crawled before walking did better on cognitive tests than infants who went straight to walking.

This made me chuckle because I never crawled — I physically cannot due to stiffness in my right wrist. I do have trouble with caps, and I always give a little sigh of exasperation when I see those seals underneath caps. In those cases, I find a knife or scissors are my best friends.

I have scoliosis – a short, sharp curve between my shoulder blades. I had a spinal fusion the winter of my seventh grade year. Dr. Patrick Riley and Dr. Dennis Weiner were my pediatric orthopedic specialists, and Dr. Riley oversaw my surgery.

I have very fond memories of both of these kind and professional gentlemen. While many people dread doctors’ visits, I remember actually looking forward to seeing them and the staff who worked for them, especially Bea, Dr. Weiner’s late receptionist.

 

 

Fond memories of hospital


Now, no child (or adult for that matter) likes to be in the hospital. It’s a strange place, with strange noises and strange smells. You are poked and prodded with needles and sometimes have to go through multiple procedures and tests.

But I really don’t have any bad memories as a patient at Akron Children’s Hospital. Of course there was the unpleasant but necessary stuff but what comes to my mind first are the kind and caring doctors and nurses who make you as comfortable as possible.

I remember the crafts from TWIGS – probably one of my favorite things because I’ve always loved art. I remember the playroom and the drawing paper and blocks.

I don’t recall getting a visitor from the Doggie Brigade. But that might be because I’m an asthmatic. I was a patient at Akron Children’s far more for my asthma than problems with Conradi’s. Indeed, I’ve always found my asthma more limiting than my dwarfism, although my asthma is well-controlled today.

However, I’ve met many of the fuzzy, four-footed members and their human s at the Akron Children’s Hospital Holiday Tree Festival, where I chaired the one-person face painting committee for many years. I’ve also seen pictures of the Doggie Brigade at the hospital, and you just don’t forget the smiles and bright eyes of kids as they are greeted by a happy face and wagging tail. They always make this adult grin, too.

The surgery itself was uneventful, and didn’t involve rods like many spinal surgeries do – another stroke of luck. I did have to wear a back brace for several months. That could be uncomfortable, but thankfully I had my surgery in the winter. I can’t imagine wearing that brace in the summer.

I “graduated” from wearing the brace all the time to wearing it only when I was doing something like horseback riding right before school ended.

As an adult, my eczema is probably the most annoying “side effect” of my Conradi’s. About 14 years ago, I know my skin was really bad, constantly painful, in part due to my own ignorance, and in part due to being subjected to two doctors (NOT affiliated with Akron Children’s) who didn’t know what they were doing.

I finally found a dermatologist who did know, and things have improved greatly. A bad day today would have been an average day even a couple of years ago.

 

 

Educating others about rare disorder


april-helmI often get stares out in public, and I hear it all the time: “Look mom/dad! She’s little!”

I never mind that. They are just stating the obvious, in the typically naïve and unknowing way of kids. If anything, if I can get the child’s attention, I enjoy opportunities to tell others about dwarfism and Conradi’s. I’ve worked with children and teens all my adult life, and you would be hard-pressed to ask something I have not heard in some form.

I will never be a star athlete, but two sports I enjoyed when I was younger was ice skating and horseback riding. I rode and volunteered at Pegasus Farms, a riding facility for those with physical and mental challenges, for a number of years.

I spent many a Saturday helping other riders, grooming the horses, cleaning tack and mucking out the stalls. That was my idea of a good time. Alas, a busy college schedule and a tighter budget when I grew older forced me to quit riding, but I remember those days fondly.

I graduated from Kent State University with a major in journalism and a minor in theater, both of which serve me well in my present job as special products editor for the Record Publishing Co. I cover entertainment and arts events in the area. You may see me at an art gallery opening, a theatrical production, a concert or festival. I love the variety my work brings to me.

I also have an MLIS (Master of Library and Information Science) degree, a degree that also has come in handy in my current job. Obtaining an MLIS was something I’d wanted to do, even as an undergrad, so earning this degree in December 2006 was a real accomplishment.

I like to keep busy and pick up new skills. One thing I’ve enjoyed is working with children and teens. My mom and I used to do work with Kids of the Block – a program that uses puppets to educate children on special needs and on issues such as nutrition, abuse and cultural differences.

I’ve assisted several times with workshops conducted through Girl Scouts (an organization in which I am a lifetime member; Juliette Gordon Low is one of my heroes) and United Disability Services. These workshops educate younger girls on various special needs.

I’ve also gone to classrooms and youth groups, mostly Girl Scouts, to talk about dwarfism and disabilities. I’ve also been known to come out to teach songs and games, which I enjoy doing.

I also occasionally give talks about journalism and writing careers, most recently for Asian Services in Action’s summer program for school-aged children and teens. In addition, I teach computer literacy to adult immigrants who come to ASIA’s Akron office, through grants I wrote and obtained from the Moffitt Foundation and the Smith Foundation.

I really enjoy teaching. I love watching my students’ faces light up when they grasp something. But I also love it when I learn something new – and I always do.

All in all, I consider myself very fortunate in many ways. Sure, life as a dwarf has its annoyances (top shelves are the bane of my existence), but a friend of mine, Patti Lou Judge, my Kids of the Block trainer, once made a comment that has always stayed with me: “Everyone is disabled – on some people it just shows more.”

 

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