Written by Nathalie Wendling 2010
My name is Nathalie. My husband John and I met at Concordia University in Montreal.
We have since lived in Toronto and now Ottawa. We have two beautiful children:
Melanie born in April 2000 and Tommy born in December 2002.
Our daughter Melanie was born with a rare syndrome called Cornelia de Lange Syndrome (CdLS) named after
Dr. Cornelia de Lange who first described this syndrome in 1933.
In Canada there are about 100 known cases. In the United States there are about 2,400 known cases.
When did we notice something was different?
John and I started to notice something was different in the first week! Melanie was choking 2-3 times a day and it seemed so difficult for her to cough. It was like an overload of mucus. We had to use an aspirator to clear it. It seemed very odd that after 10 days we were still at the hospital asking nurses to use this machine. We did not want to leave the hospital and the security of the aspirator. We did not have one of these at home.
The weeks that followed were worse. It was like she was choking on her own saliva. For three months we struggled. At home, I would sleep with my hand under her head. Every half hour she would choke hard until I propped her up in a sitting position. The cycle would start with crying episodes of 9 hours. Over the next ten days the crying episodes worsened and reached 36 hours of straight crying. Eventually she would vomit violently for hours and then the cycle would start over again. We tried 6 different types of milk, 25 different types of pacifiers, 47 types of nipples, 60 different sleeping positions, 100 different eating strategies, no milk, no water, only rice cereal, under medicating her, overdosing her, different types of ant-acid medication and reflux medication (the doctors even prescribed ones that had been previously pulled off the shelf due to adverse side effects). We tried all of it!
Our family and friends would try to help and support us but obviously could not!
I would try to have a shower but someone would open the door in a panic: “She can’t breathe!”
We would be driving and suddenly have to stop: “She can’t breathe!”
I would have two phones hanging from my back pocket: 9-1-1! “She can’t breathe!”
My husband and I were sweating, shaking, scared, overloaded with adrenaline and exhausted with no one to turn to because the hospital had labelled us “hypochondriacs”.
Test after test after test….blood tests, biopsies, lumbar punctures, x-rays, ultra sounds, hearing tests, catheters, pH test, barium test, upper GI endoscopy, esophageal pH probe, more blood tests (while she ate, slept and vomited), more biopsies, more barium tests... they tried anything and everything. Often I had to pin my daughter down during the tests. Sometimes it was just too overwhelming and I would beg the nurses to take over! My legs were giving out and I felt like collapsing. The nurses were overworked and understaffed and didn’t have time for mothers experiencing a weak moment. My husband lost it once during a blood test! Melanie was vomiting and choking at the same time. They would not stop! After a horrifying nine weeks of testing, the doctors could not find the source of the pain and sent us home! We were now labelled as “weak, aggressive and hypochondriacs”.
Six more weeks went by. Melanie cried day and night for thirty six hours straight. I know it sounds completely unbelievable. And it was; unbelievable and unbearable.
At four months old and a mere eight pounds, Melanie gave up. It had become too painful to eat and too painful to drink. She stopped! She stopped eating and she stopped drinking. She had finally made the link: food and liquid equals too much pain.
It was over.
She was dying.
Though we understood this we didn’t know how to just let her starve to death in our arms. So we called the hospital one more time and begged and begged them for help.
The hospital offered to give us a break and would keep her for only three days and three nights. My mother and step-father fought hard and got her file changed to another doctor on a different floor with a different team. After twelve hours they finally medicated her with pain killers and tranquillizers. They inserted a feeding tube through her nose and into her stomach. The doctor had a new strategy with no guarantee of success: Endoscopic fundoplication with a gastro feeding tube. But first we had to get her to nine pounds prior to surgery. This was no small feat. Children with CDLS have a very fast metabolism and do not gain weight easily. It took a few weeks and a lot of work but we did it! She was ready for surgery.
After the operation some of the previous doctors apologized. They had never seen a stomach that small. It was the size of a walnut and the opening at the top of the stomach was much too large so nothing had been staying in. For the first four months of her life every time she swallowed something it would come back up - not high enough up to come right out but high enough to cause severe pain. It wasn’t her saliva she had been choking on all this time - it was undigested food!
Melanie had silent reflux sometimes referred to as the silent killer!
Over the next seven years Melanie was subjected to ten more surgeries and procedures and experienced serious eating disorders. In senior kindergarten she missed so much school some of her classmates believed she had died and that the teachers were keeping it a secret. In 2005-2006, my husband and I didn’t go out for dinner once. Six different times we tried having friends over but three of those times our friends ended up babysitting Tommy while we rushed Melanie to the hospital. (We had to have two people in the car because Melanie’s body temperature would rise too high and her blood pressure would drop. One of us had to sit with her).
My husband and I had to be strong. There was no time for us. No time to eat, no time to sleep, no time for friends, no time to go out, no time to watch TV, no time for exercise, no time to argue, and no time for tears. We ate peanut butter sandwiches for supper and sometimes we would not speak for three to four weeks at a time. We had to preserve our energy for hospital trips, high fevers and sleepless nights. Once a year we attempted going on vacation but always ended up at a hospital for several days or even weeks at a time.
Melanie suffered through years of chronic ear infections, sinus infections, double pneumonias, reoccurring stomach flues, a weak immune system, infinite cold sores and behavioural problems. One year, Melanie was on antibiotics for 35 weeks. This destroyed her stomach lining and caused bouts of severe diarrhoea. Her sinus infections were so painful she did not want to get out of bed! But Melanie did not cry. Over the years, she had learned that crying does not solve any problems in her life. She tried so desperately to communicate her pain that she once grabbed my hair on both sides of my head and pulled as hard as she could. As a result of her chronic pain Melanie's behaviour problems worsened. Again my mom fought hard to change her file to a different doctor with different priorities. After 3 years of chronic fevers, chronic diarrhoea and unbearable pain, Melanie eventually got her adenoids removed.
After eight years and eleven surgeries and procedures, Melanie was finally pain free! Nothing seemed to be hurting anymore! So we slept, slept and slept some more!
At that point we were all more rested we decided to move houses. We needed to downsize and simplify our lives. We realized that I would not be returning to work in the near future and debts were quickly accumulating. My mother had been more than generous financially for the previous seven years. She would have offered us the world. But money could not fix the problem (though it definitely helped a lot. Thank you so much Mom). Melanie still could not go up and down stairs safely and she still needed constant supervision. We moved into a bungalow with no stairs and a much simpler lay out.
After the move we found we had more time and energy to focus on the details concerning Melanie. After three hearing tests over seven years, the results finally became clear. Melanie was fitted with hearing aids and glasses. What a miracle!When you called her name, she would turn around and look at you straight in the face! She could finally see and hear! Melanie was no longer in her,” own little world”. Everyday little miracles were happening. With the help of her brother, her vocabulary increased from 20 words to 500 words. Her balance improved, she became more co-ordinated, more social, more verbal, more confident, better rested, more flexible, and her appetite improved. She was better all around…finally some light! Finally, she was going to school full time, attending birthday parties, skating, swimming, riding the school bus, eating lunch with her friends and hugging her brother!
Today, life is easier. It has been for the past two years. Melanie still has sixty to eighty appointments a year and has many developmental delays: she is not toilet trained, cannot recite her alphabet or express pain. She still has other minor surgeries and procedures to face. There are still new medications to experiment with, doctors and teachers to follow-up with, eating difficulties, and strange fevers but for the most part life is much easier!
Today…I hear laughter roaring through gymnasiums. My daughter, my son, my husband, teachers, reporters and children all listen to my son read our book. They all watch the rat video we made together! Laughing, laughing, laughing, laughing and laughing some more! Once upon a time, not so long ago my stomach ached hearing Melanie cry and scream in pain for reasons that doctors could not find or fevers that could not be explained. Now my stomach aches from laughter. And now, finally, the tears fall…
Who were/are the special people on my/our support team?
My husband and my son have been the biggest source of support for me. There were times when I couldn’t imagine how I was going to survive the next ten minutes, let alone the day, week, month, or year that lie ahead. My husband has always remembered to hug me hard enough and long enough to give me the strength and courage I could not find. John has many admirable qualities. He has made me laugh when there was nothing to laugh about. He has remained calm when there was nothing but chaos. He has been strong when the whole family was weak (including him). He has been patient when all I felt was frustration and anger. Most importantly he has never questioned any of my decisions, my emotions, my state of mind, or my silence…some moments were unbearably difficult. Our marriage survived because of him. Thanks Johnny!
Our son has all of my husband’s great qualities. Tommy has learned when his mother needs a really big hug, when his sister desperately needs a good laugh and when his father needs a cold beer! Tommy will spend hours teaching Melanie a new game, a new word, a new letter or a new number. It took three years to teach Melanie to pronounce the letter “P”. He is amazing. He never gives up.Thank you Tommy!
My mother has been very supportive financially and emotionally. Into her own hands she took important matters that we had neither the time nor the energy to deal with. My mom and step-father were the one who dragged all of us to Toronto for answers. It took three different hospitals and three years for doctors to diagnose Melanie with CdLS. They were the ones who turned the hospital upside down until Melanie’s file was transferred to the right doctor. Melanie is still here because of both of you. Thank you!
My twin sister lived through all of our struggles, all of our pain, and all of our exhaustion. She helped then and she helps now as much she can and sometimes more! Though my sister has never told me this, I am sure she cried an ocean. She cried the tears we did not have time to cry! Thanks, Sis, for caring so much.
The rest of our friends and family have been very supportive as well. My husband’s mother was all heart and so helpful. She stayed with us for weeks at a time. She passed away very suddenly when Melanie was 2 years old. We miss her! Our brothers, fathers, step-fathers, step-mothers, fathers-in-law, friends (especially Andy) have helped in very special ways. They always seem to be the ones to help us out when we have reached rock bottom and need to escape, if even just for a moment. Thank you for all your help!
Benie-Rose helped us for a few years when Tommy was born. She held Tommy, played with him, fed him and bathed him. He loves her and so does Melanie. Benie-Rose still comes to babysit three to four times a year. The children are so excited to see her whenever she comes! She is also very excited to see them growing up! Thank you Benie-Rose!
Melanie’s friends have also helped in specials ways. She has three very special friends: Erica, Clare and Katrina. They love her and include her in everything. Erica wrote a song called “Melanie is like the sister I never had”. Erica looks for Melanie at every recess and says she will take care of her in high school! Melanie had her first sleep over at Erica’s house when she was 10 years old! The girls bring her to the bathroom, help her get dressed, help her answer questions and teach her how to play. Thank you so much girls. You are the best!
We would also like to thank the following doctors for solving problems other doctors believed were not problems at all: Thank you Dr. Weber and Dr. Cajal in Montreal, Dr. Lal, Dr. Kehoe, Tanis Friesen (speech pathologist), and Dr. Vaccani in Ottawa.
During the years that Melanie missed a lot of school she had a tutor named Teresa. She came to our home three to four times a week. Other than doctors, Teresa was one of the few people I saw on a regular basis. She was the sunshine in my life. She made Melanie smile and laugh. She was an amazing teacher and had Melanie write her first letter and read her first word. I often sat by the stairs, closed my eyes and listened to the sounds of laughter and achievements. I learned a lot from Teresa. She taught me how to believe in Melanie! She taught me that repetition and patience can lead to rewarding results. She taught me to never give up and to always smile. It was so hard to say good-bye to Teresa. I found it so hard to look her in the eyes. I did though and I’ll never forget that moment. Thank you for everything Teresa!
We would like to wish courage and strength to all the parents of children with disabilities.
Many of you have similar stories, (and worse).
We hope the sun shines for you soon…
We wish you, “Courage and Strength!”
The birth of the book and its overall response
In senior kindergarten Tommy came home one day and said he wanted to write a book. We went to the dollar store and purchased a pencil and a blank note book. All of his stories seemed to include the same main ideas: a boy, a villain, a car crash, and a pet rat that saves the day. After a few stories he wanted to introduce a girl to the story. And so the book “Tommy and Melanie have two pet rats and one syndrome” was born. We wrote the book together. He was in charge of the story. He wanted to make it funny enough to entertain his friends. I was in charge of making it informative and educational so it could be used to raise awareness about CdLS.
In grade one, Tommy came home one day and cried because his friends were making fun of Melanie. We decided that we should self-publish the book as soon as possible. We announced the release on the last day of school. I was very nervous and scared that the children would not like it and make the situation worse. Tommy was very confident that everyone would enjoy the book. He said, “I am seven and I know what a seven year old thinks is funny!” He was right. They loved it! They loved it so much; some slept with the book and refused to share it with their siblings.
We had book signings, coverage in newspapers and in magazines. We did book readings in schools and in senior’s residences. The Miriam Foundation of Montreal purchased 2200 books and distributed them to doctors across Canada. Grandmothers buy several copies at a time for their grandchildren. Grandfathers get all choked up! Teachers love it! Children bring it to school for show and tell. Children are obsessed with finding the rats throughout the book. Everybody loves the rat video. Some parents have told me their children watched it 10 times a day. One mother told me that she loved the book so much she gave it to her neighbour and went to buy another copy the same day. It is all so great to hear and we hope it will help find many CdLS children who live without diagnosis.
By Grade Two, someone asked Tommy what his favourite part of co-writing a book was. He answered,
“My favourite part is that no one makes fun of my sister anymore!”
About the Rats
John had pet rats throughout his childhood. We moved to Toronto after graduating from university. It wasn’t long before John brought home a cage with a couple of pet rats. I had never heard of rats as pets before. Rat after rat, after rat…I became addicted! Once I lost a rat for three days. He had fallen inside a box of cereal. When we finally found him, he was huge! It was the biggest rat I had ever seen!
Melanie holds her pet rat every night and every morning. If Melanie has a tantrum the pet rat will calm her down. When Melanie is sick, the pet rat will watch TV with her all afternoon. When Melanie requires nose spray, her rat gets sprayed too. When Melanie gets her hair brushed, the pet rat gets its hair brushed too. Her rat is relaxed, calm and happy to be held! Her rat will snuggle by her side and sneak a nap! Melanie’s rat always remembers to kiss her goodnight!
Tommy has many plans for his pet rats. They run through tunnels, ride on cars, dodge flying obstacles, play with bugs, encounter rabbits, climb up curtains, climb down bookcases, escape to the basement, run through the grass, and play with water. His rats are intelligent, quick, and adventurous and know their own names. They often get lost in the house but eventually return when their names are called.
Pet rats never bite…unless your hands smell like food! John has had pet rats for most of his life and now I think our children will too! Thank you rats for making us smile…squeak!