Monika s story (Canada)
Monika s hôpitality
Monika was born June 7th 1999, a healthy baby girl. Monika was a very good baby and developed normally until the age of 3 years old, and then her development seemed to start reversing. She wanted to be picked up more and more, she seemed to fight with me to get her dressed, she was less active, and was tired all the time. Monika was getting a lot of ear infections and colds that seemed to last forever. Her joints were stiff and her thumb and fingers started to curve inwards. It seemed we were always at the doctor’s office.
The winter of 2002 was the longest ever with Monika being sick so much. Finally, in the spring of
2003, her family doctor recommended we take her to The Montreal Children’s Hospital for arthritic testing.
All the tests were coming back negative, which seemed to baffle the doctors. Something just wasn’t adding up. We had tests booked for the next 4 months, the staff and doctors were amazing.
Monika end the doctors
Weeks past and a routine eye appointment came up for the Arthritic department, which I had almost cancelled because arthritis had already been ruled out, but then thought why not keep it. What better place to have your eyes examined, so the appointment came and Doctor looked into Monika’s eyes and in an instant he looked at me and asked if I wouldn’t mind if his coleegs had a look. One by one, seven or eight of them came and all came to the same conclusion.
It was Corneal clouding, a very big clue as to why Monika’s body was deteriorating. After the exam, the doctor explained that it looked like some form of Genetic disease called Mucopolysaccharidose, and that he would make arrangements with a Geneticist to see Monika as soon as possible. Doctor assured me that he would call me personally to let me know when, within 48 hours, we would be able to have an appointment with
Doctor Genetic specialist at The Montreal Children’s Hospital. So once again the testing began, Biopsy’s, X-ray’s, MRI, Neurology, Urine, Blood.
Monika in the garden
July 2003 all tests were done and the final results were in. Monika was diagnosed with an extremely rare Genetic disease, MUCOPOLYSACCHARIDOSE type 1. Who would have thought? We initially felt relief, but little did we know the battle was only beginning. With the appointment I had made with the Geneticist, to talk about my daughters condition and treatment, still days away, and knowing the name of the disease, I turned to the web for information. Wow, I couldn’t believe that my little girl had this, what are we going to do, how can we help her.
This was bigger than I had ever imagined. There was a web site called “The Canadian MPS Society” and I saw that there was a phone number. So, in tears, I called the number. The lady on the other end of the phone was Lori Di Ilio, head of the Society, and a mother of an MPS child. She was, from that point on, a friend who gave me the information, the courage and the strength I needed to understand and fight for my daughters well being.
ALDURAZYME, this is the medication Monika needed to help slow down the progressions of this devastating life threatening disease. But, this life saving drug was not yet approved in Canada, this to me, was a real shook. The approval of Aldurazyme was one of the things the MPS Society had been working on for some time. They say that every cloud has a silver lining well, while researching other cases in Canada, I found out that there were not many people with this disease, but that a few of them were on this drug Monika needed so desperately. The medication was given through a special access program, but it wasn’t easy to get. There was a lot of paper work and a lot of pushing from newspapers, radio and television and also from the Montreal Children’s Hospital to help us get access to this very important medication.
Genzyme Canada
Monika with her file médical
Finally on June 10th 2004, three day’s after Monika’s 5th Birthday and ten days after the drug was finally approved by health Canada, Monika received her first six hour Infusion , and every week since then.
Since Monika was diagnosed with MPS 1, she has had many minor surgery’s to help manage some of her other symptoms.
She has permanent tubes in her ears for better hearing. She has had her tonsils removed and adenoids cotorized twice. She has had carpal tunnel surgery to help eleveate the pain and numbness in both hands. She had a port-a-cath installed for her weekly 6-hour infusion, to help easily access the vein. She also needs to have a battery of tests every 6 months to monitor her health. Monika does physio every single day, wears brasses on her hands and feet to help lengthen her tendants, and wears glasses because of her corneal clouding. Monika has had to learn to adapt with the many changes in her life. Our family is not what it once was, and we have learned to live with this disease as best as we know how.
La marche pour l'Aldurazyme qui n'est pas gratuit dans toutes les régions au Canada
2005 : Monika is now 6 years old, she has lots of energy and she is a very proud grade one student. She is able to do most of what her classmates can, but even when she is not able to, she just finds a different way of doing things. At times I do see the desperation in her eyes to do things as her friends do and try to comfort her as best as possible. The school that Monika attends has done it’s best to make her feel comfortable by readapting certain thing to her capability.
Monika loves biking, camping, playing with her dog Dawson, coloring, dancing and singing with her friends. She doesn’t mind so much going for her infusions on Thursdays, the Hospital staff has become like a second family to her and they always have a lot for her to do, for her to feel at ease in the hospital is very important to her physical and mental well-being.
Monika 7 years old, and in grade two now was faced with another hurdle on October 4th 2006 she underwent a 4 ½ hour spinal decompression surgery to help reduce pain in her back and legs and to try and slow down the accumulation of deposits in her spinal cord, the surgery was a success and Monika is recovering well.
2007 Monika is now 8 years old and in grade 3 she finds it a little more difficult because her class is on the 3rd floor, but she seems to manage for now her last surgery was in August, her Port-A-Cath into which they give her weekly infusion stopped working, so after 3 years and 2 months it had to be replaced.
This was a big adjustment for her because it is now on her right side, the surgery took about 1hour and 15 min. She came home the same day.
2008 well this year is going pretty good we only foresee one surgery so far to replace tubes in Monikas ears. Monika has started a 30 minute school programme with the hospital on Thursdays to keep up with her work and we will be celebrating her 200th infusion this summer with a party at the hospital. Monika is having more pain in her legs this year, and her feet have become our primary concern, with the progressive deforming of her toes getting worse we are trying out deferent types of orthopaedic shoes none of which she has found very comfortable.Monika has always had a great love for horses and this year she has begun taking therapeutical horse riding lessons, which she loves very much, for her this is a dream come true.
And we are also looking forward to our10th International Symposium that will be held in Vancouver B. C. where we will meet families from all over Canada, the US and the UK. Meeting other parents that are living with the same challenges is so important, because you cant fully understand dealing with a progressive illness unless you are actually living it, some days it just gets a little overwhelming.
Monika’s strength, courage and ongoing smile make’s us so proud to have such a wonderful daughter. Although this illness has pretty much changed the whole course of our lives, I would not change my precious Monika for the world. She is teaching us what life is really about.
For more articles on Monika please go on the web and search for “Monika Nelis-Dupont.”
We have also organized a yearly 4 K walk in the Eastern Townships.
Please come and show your support. I have a great love for children and believe they all deserve a chance at life, and good healthcare in Canada.
mary.nelis@sympatico.ca