Oh, rats – Living with rare snydrome

Posted by Big Rat on Campus on Nov 8, 2012 in Rat News | Subscribe

Posted Nov 8, 2012
By John Curry

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EMC news – A book. Two pet rats. And a message.

These were all front and centre at an assembly at A. Lorne Cassidy Elementary School in Stittsville on Monday, Oct. 29 as siblings Melanie and Tommy Glatzmayer talked about the book entitled “Melanie Tommy have two pet rates and one syndrome” and told about Melanie’s rare syndrome called Cornelia de Lange Syndrome that has only 100 known cases in Canada. They were accompanied in their presentation by their two pet rats which are featured in the book.

Researchers estimate that there are one in 10,000 people suffering from Cornelia de Lange Syndrome without it being diagnosed.

Diagnosis is difficult because there is no testing for this condition, only clinical observations. Melanie went to three different hospitals over three years before finally coming to the attention of a genetic doctor at Sick Kids Hospital in Toronto who had seen such a case before and who referred Melanie to another doctor who had done a study on 400 individuals with the syndrome.

While Melanie has faced 14 procedures and operations, she is currently free of having to undergo any major operations. However, she does have up to 80 medical appointments a year. She also undergoes one or two procedures a year like endoscopy, biopsies, dental work or ear tubes. Her health condition is probably best understood by the fact that she rarely gets through a full week at school.

Because of the syndrome, Melanie has many developmental delays such as hearing problems, vision problems, eating difficulties and speech delays.

Tommy, when he was six years old (he is now nine years old), came home crying because Melanie, who is now 12 years old, was being teased at school. That’s when Tommy and his mom Nathalie Wendling decided to publish a book which came to be entitled “Melanie Tommy have two pet rates and one syndrome.”

By writing and publishing the book, Tommy wanted to educate his friends about his sister’s syndrome while still entertaining them. That’s why the book tells the story of a week in the life of Melanie and Tommy and the antics of their two pet rats.

In addition, Tommy’s mom Nathalie Wendling and her husband John William Glatzmayer, who live at Manotick, wanted to see the book published to broaden awareness about Cornelia de Lange Syndrome and to help find and identify as many individuals suffering from the syndrome as possible who are living without diagnosis or support.

Since publication of the book in 2009, more than 6,500 copies have been sold. In addition, Tommy and Melanie have done over 30 presentations both across Canada and in the United States. They have been interviewed on radio, television and for print media. They have had numerous book signings.

Tommy has been a guest speaker at fundraising events and conferences.

The presentations at schools began in Ottawa in 2010 when Tommy and his mother were asked to make a presentation. Tommy, then only seven years old, wanted to make the presentation by himself with his sister and their two pet rats by his side.

He delivered a message about courage, strength, love and acceptance.

It took two years to produce the book as everything from printing to finding a photographer had to be figured out. It also took time to try to include in the book all of the questions that are frequently asked about Melanie’s syndrome.

Tommy and his mother have a second book now finished with publication coming up soon.

Cornelia de Lange Syndrome is a developmental disorder that affects many parts of the body. Symptoms can range from relatively mild to severe.

It is characterized by slow growth before and after birth, intellectual disability that can be profound, skeletal abnormalities of the arms and hands and distinctive facial features. Mutations in certain genes can cause Cornelia de Lange Syndrome.

The first ever documented case happened in 1916. The disease was researched by a Dutch pediatrician, Cornelia de Lange, after whom the disorder has been named.

The diagnosis of Carnelia de Lange Syndrome is primarily a clinical one based on signs and symptoms observed through an evaluation by a physician. The Syndrome can cause some physical abnormalities such as small hands and feet, hearing impairments, heart defects, long eye lashes and small head size. Children with the Syndrome can suffer from gastrointestinal tract difficulties, vomiting, constipation and gaseous distention. These symptoms can vary from mild to severe.

Sufferers from the Syndrome may also have behavior problems including aggression, self-injury or a desire for a structured routine. Some of these are autistic-like behaviors.

Treatment of this Syndrome often takes an interdisciplinary approach which includes speech, occupational and physical therapists, teachers, physicians and parents.

Cornelia de Lange syndrome has affected Tommy’s sister Melanie in a number of ways as outlined in the book.

For Melanie, learning new skills is difficult and time consuming. It took Melanie five years to learn how to chew food. It took her nine years to learn how to jump with two feet. And it took her six years to say 20 words. For Melanie, basic skills like walking, talking and eating are challenging. This means that more fifciult skills like reading, writing, skating, sewing and more will probably take years and years of practice to perfect.

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