MPS Smiles

MPS Smiles 2017-10-20T00:09:05+00:00

MPS Smiles

Here is a collection of stories and videos from people who have generously shared their experiences of living with MPS. Would you like to share you own experience? Contact us for more information.

Matteo Spina (MPS I H)

 July 25, 2011:

Here’s the story of my son Matteo and his struggles with MPS.  At only 7 months Matteo Spina, our second son, was diagnosed with MPS type I – Hurler Syndrome.  Our first son Gianluca is only 2 years older than his brother Matteo and he was perfectly healthy so you can imagine how shocked we were when we recieved the actual diagnosis.  Now that I look back at the last year and everything we have been through, I don’t know where to even start.  I guess you can say that we were very fortunate to be followed by some amazing doctors at the Montreal Children’s Hospital (to mention just a few: Dr. Kuclas, Dr. Mitchell, Dr. Melancon) because if it was not for their knowledge and perseverance our little Matteo would not be where he is today.  It all started September 6, 2009, the day Matteo was born.  The birth was normal and he was a very healthy boy; however, they just had started doing a mandatory hearing screening test at the Royal Victoria Hospital (the only hospital in Montréal to do this at the time) and Matteo failed the test 3 times in a 2 week span so they referred us to the audiology department at the Children’s hospital as a precaution.  It took a while to get the actual appointment and when we did I had to go back on 3 different occasions before we had an official diagnosis (with newborns it is fairly difficult to test hearing).  So our first sign that something was wrong with our perfect little boy was that he had bilateral hearing loss and no one could explain why at the time.  Matteo’s ENT prescribed hearing aids and this began our journey with the Mackay Rehab center for SLP therapy.  While all this was being set up the audiologist asked me if she could refer Matteo to see Dr. Koclas, a developmental paediatrician, just to make sure everything else was ok with him.  Matteo was about 5 months old when we saw Dr. Koclas and from the second she lad laid her eyes on Matteo, she new something was wrong.  She insisted that we get a head scan because she thought his head was larger than normal.  So, 3 weeks later we had a head scan and that day we found out that Matteo had hydrocephalus (too much water in the brain) and needed emergency surgery to insert a shunt. This was our second sign.  There are no words that can describe how my husband and I felt that day and through the first of many surgeries to follow.  That same day Dr. Koclas sent Dr. Melancon (a genetic specialist) to meet Matteo and give us a follow-up appointment to see him in clinic in 2 weeks.  We were at the hospital for 3 days for shunt surgery and then our real journey began when we saw Dr. Melancon in clinic and he explained to me that he thought Matteo had a rare genetic disorder and that he would need a urine and blood sample to get a true diagnosis.  I was so shocked and disoriented from that day on and even though that was a full year ago you never really get used to the idea.  It took 5 weeks to get confirmation that Matteo had MPS I and it was without a doubt the longest 5 weeks of my life.  At the time, I had no one to turn to because we had decided that we would not tell our family until it was confirmed.

From here on we started weekly ERT (Enzyme Replacement Therapy) and not long after we made the decision to go ahead with a stem cell transplant which was his only hope to keep his cognitive function intact.  This process took about 3 months to set up and find an appropriate match and during those months we continued ERT and did some general surgeries to insert a port, a broviac, repair hernias, insert PE tubes in his ears, replace a malfunctioning shunt, and so on.

Life at the hospital had now become routine: I knew all the doctors and nurses by name, and it was our home away from home.  Especially because we were spending 2-3 days/week there.  Once we got the go ahead from several specialist that Matteo was in good shape to go ahead with the transplant we did and we spent 7 full weeks at the hospital on 8D in the isolation rooms.  The transplant process is so intense but our little trooper did fantastic as he had proven over and over with all his surgeries.  By the day after any surgery he was smiling at us and his smile is truly contagious.  I don’t think the transplant could have gone any more smoothly than it did.  I was told that babies have an easier time in transplants and general do really well.  His transplant date was July 29th.  For more detailed information about Matteo’s transplant and his progress in general, please follow us on www.caringbridge.org/visit/matteospina.

Those 7 weeks flew by and next thing we knew we were back home as a family.  Matteo was sent home 1 week before his first birthday with 8 diff meds, feeding tube, and a strict diet but we were so happy to be at home again.  We still had many appointments in haematology and ERT (for 3 months post transplant).  Transplants are such high-risk procedures that you worry every day before, during, and after.  It’s now 9 months post transplant and he is doing so well…you would never know that he went through so much his first year of life.  We no longer do ERT and we are followed about twice a month at the hospital so we definitely have come a long way.  Matteo has 5 therapists he works with on an ongoing basis and they are all fantastic.  He absolutely loves them and the therapy has made a world of difference.  Today Matteo walks and talks and will be starting daycare in the fall at 2 years of age.  His cognitive development is exactly where it should be and in fine motor skills he is advanced.  As for gross motor, he is a little behind as he is 19 months and just started walking.  But all in all he is doing fantastic and we are so proud of him and how much he progressed in such a short period of time.  He is such a bright little boy with so much to offer.  He makes me smile every day – I couldn’t imagine my life without him and I thank God everyday for our journey and the help we received from everyone.

Matteo’s favorite things to do are going outside and playing with his brother.  His big brother really likes to make Matteo laugh and will do just about anything to see him smile which suits him fine because he’s a big clown!  Matteo also enjoys music – we do music therapy at the hospital and he really loves playing the guitar and singing along…I actually think that music is his comfort blanket.  Matteo can do anything he sets his mind to even with his small limitations but overall he is a true champ!

Thank you,
Angie Lombardo (mom to Matteo Spina MPS I/Hurler)

Evan Santos (MPS IH)

Wednesday, May 14, 2014
Jill Steele

Evan was born on September 10, 2005 by emergency caesarean section in Toronto, ON, to parents Melissa Steele and Carlos Santos. We were all so excited and thrilled since he was our first grandson. His big sister, Sophia was a healthy girl, excited to have a new brother.

He looked healthy but initially had breathing problems that resulted in him being in NICU at Mt. Sinai Hospital for 2 months. He came home still on oxygen and remained a mystery to the doctors searching for a diagnosis. Just when they were about to give up and relate his health issues to a diagnosis of  Melissa, having a virus while pregnant, an especially alert radiologist at Toronto Sick Kids Hospital noticed boney changes in his spine after a routine chest x-ray and suggested to his pediatrician that he be checked for a lysosomal storage disorder.

The news after this was quick and devastating. He was diagnosed as having MPS 1, Hurler syndrome. To say this was heartbreaking would be an understatement, especially when his initial prognosis looked so bleak. However, his parents and family didn’t give up hope and quickly looked for options for his health care. It was then we discovered the only real option for Evan was to be a bone marrow transplant so he would begin to produce the enzyme he was lacking. It looked like a challenge since his ethnic background was so diverse (Portuguese / Scottish), but happily his 2 year old sister, Sophia, was a perfect match.

It was then we contacted the Canadian MPS Society, and were so lucky to connect with Kirsten Harkins and later Judy Byrne. They were so supportive and helped us get over the initial shock. I met them at our 1st Canadian MPS Family Conference in Collingwood when Evan was preparing for his transplant and it was then I felt the first glimmer of hope. To meet other MPS parents and kids was phenomenal and to see that they were really just like other kids despite their diagnoses and challenges.

Evan had his bone marrow transplant at age 10 months with the donor being his tiny sister. Recovery after the transplant went relatively well, considering the seriousness of the process and potential side effects.

He returned home just in time for his 1st birthday. It was a joyous family time and he had none of the dreaded rejection issues.

He had multiple OT, PT, and SLP services throughout his pre-school life and they continue to-day as required.

Since that time Evan has been and is a joy. He is sweet, funny and a real joker…especially with Mommy and sister, Sophia! He has done amazingly well physically although he has some corneal clouding which require him to wear glasses and he is presently being monitored for narrowing in the cervical area. His genetics and bone marrow team monitoring appointments have been decreased to once a year.

However, there have been challenges with developmental delays and a diagnosis of Autism Spectrum Disorder at age 4. He presently is receiving treatment/therapy through Geneva and Surrey Place Autism Centers. He has an adjusted learning plan in Grade 3 where his teacher continues to be surprised by his progress and sense of humour.

Support by the Canadian MPS Society, Toronto Sick Children’s Hospital, especially the genetics team: Dr Raimen, Margaret Macreel and Patty Martinez et al, and the many other departments Evan utilizes have been phenomenal.
He is a very busy boy. He continues to amaze us with what he knows and actually understands and surprised us all with learning to read last year …despite not liking to do so… he corrects his teacher if he makes a mistake reading to the class at school. He is very talented with electronic devices especially his iPad and his favorite indoor activity is playing on the computer. Outdoors he loves to run and play soccer etc. with his cousins and Sophia. He also enjoys the playground and makes sure he goes on every piece of equipment before he’ll go home.

Since Melissa and Carlos separated 2 years ago, his extended family has tried to be very involved in supporting Evan. His Aunt Heather and Uncle John, as well as Grandma and Grandpa love him to bits, and most especially his cousins, Ava and Jack. He loves all his family and is always up for hugs and kisses on request, but his major connection is to his Mom and especially sister, Sophia. She is amazing with him, kind and patient and never seems to get tired of helping her brother. Of course they do have a few disagreements (usually over whose turn it is on the computer) – they are siblings after all!

He loves to visit Grandma and Grandpa especially in the summer when he can go to the beach and swimming. He really likes the water so we have to watch him as he will wade right in – he has no fear. He likes to visit his “Avo” (his Portuguese grandfather) for Sunday lunches…and Avo helps out by picking him up from school most days. His favorite treat is to go to eat at MacDonald’s and we can’t drive past any Golden Arches without a little voice piping up to ask ”How about a Happy Meal?”

He is our adorable “big boy” and adds much love and immeasurable fun to our family.

Written / Submitted with love by Evan’s Grandmother (Jill Steele)

Melanie Bourdon (MPS IV A)

Author: Angelle Bourdon

Born April 4, 2003, Melanie is the youngest child of 4, and takes great pride in informing us that she is the baby of the family. Melanie has been refereed to as the heart of our family. She truly loves her siblings even though she will not admit it. She is the first to raise her glass and toast to her family at any occasion.

Melanie was diagnosed with Morquio Syndrome (MPS IV A) at the age of two, and has received an immense amount of support from The Ottawa Children’s Treatment Centre – from their Genetics department, developmental pediatricians, psychologists, speech pathologist, physiotherapist, occupational therapist, social workers, and teachers’ liaison. In the education system, she was welcomed with open arms by her day care director, principals and teachers. They have all made Melanie part of the group which has contributed to her pleasant and loving nature.

Presently in grade five at Ecole Catholique St Lucie, her favorite pastimes are webkinz, music, telephone and text conversations and her newest joy, reading. Melanie is a true inspiration to her classmates and friends. She travels through the halls of her school with a happy smile and is pleasant and encouraging to others.  She is unable to participate in physical activities, but is always on the sidelines cheering everyone else and encouraging them to do their best.

Since January 2012, Melanie has travelled 900 km weekly to participate in a clinical trial for enzyme replacement therapy (ERT) for those affected by Morquio Syndrome (MPS IV A). Again, she has gained the hearts of many who we now call our Toronto family.  While participating in the trial, Melanie quickly gained 10 pounds, grew 3 inches and her respiratory health improved drastically. It was a great milestone when Melanie was actually able to graduate from a car seat to a booster seat at nine years old!  Although Melanie had one complete meltdown when she refused to travel, we know she is happy with the benefits of her new treatments as she generally loves our travel days and has dedicated herself to the clinical trial, as has our entire family. She is sad to hear that soon we will be transferred to another site, but is looking forward to continuing on ERT with new hope for a healthier future.

Melanie was featured in an article in the March 15, 2014 edition of the Seaway News. Click here to read about how the Shriners made a huge difference in Melanie’s life!

Heston Letcher (MPSIII A)

Monday, February 03, 2014
Kerena Letcher

Heston Hezekiah Letcher was born on June 3rd, 2010.  He is a sweet, loving boy who brings joy to our family.  He has two older brothers ages 13 and 10, and twin younger brothers age 1.

Heston was delayed in walking and had no speech, so after many tests he was finally diagnosed with MPS IIIA.  We have already seen a regression in his mental and physical development over the past year.  He enjoys watching videos, flavourful foods, and cuddling on the couch.  He has a constant need to chew, a short attention span and is often congested.  He also attends preschool two mornings a week, and really likes watching the other kids.

We are learning to appreciate the times when Heston is engaged, focused, and happy.  Although he is constantly busy and getting into things, we are grateful that he has mobility.  We know we have a difficult road ahead with Heston, and we are doing our best to treasure the moments we have with him with our busy family.

Jordana Kilgour (MPS I)

Hmmm…where do I start, short and sweet….

My beautiful daughter, Jordana turns 16 on September 26, 2013. I was told that Jordana reaching 16 years old would never happen, yet, here she is.

Jordana, whom has been medically sick since birth, was diagnosed with Hurler’s Syndrome at the age of a year and a half (Jan 1999-see picture) and in Sept 1999, received a cord-blood transplant. In 2010, Jordana had a pituitary tumor removed after being diagnosed with Cushing’s disease.  And, in between all these years, countless hospital visits and surgeries, but, no matter what Jordana has had to face in life and of the numerous limitations I was told she would have, her strength and determination has assisted her to overcome most of them.

Now…about Jordana… She is absolutely beautiful, inside and out. She has a smile that lights up the world with the biggest dimples I have ever seen. Her favourite food is kubasa; she loves to sing, dance and watch musical movies. She likes to play a variety of sports (golf, volleyball, basketball, power wheelchair hockey, bowling, WII). She is a social butterfly and she remembers every single person’s name she has ever met. Her favourite colour is pink. She will not leave the house without her nails being done and her lipstick on.

Her laugh never fails to be contagious to all within earshot.  She believes her brother (Jake) is the funniest person in the world and she cannot get through her day without talking to family and friends on the telephone. She loves hugs and she has loved the male gender since birth.

Jordana was unable to talk until she was 6 years old and believe me when I say, she has been making up for it ever since. Jordana briefly had the ability to independently walk from the ages of 7 to 9 and at this time, she was fully potty trained. She has been fully wheelchair bound since 10 years old.

When I describe Jordana, this is who she is: fearless, happy, stubborn, opinionated, loud, friendly, independent, polite, a diva, an overprotective big-sister, sensitive, comedic, outgoing, sassy, wise, perceptive, mischievous, clever and conscientious.

Jordana just started grade 10. She aspires to be a school teacher, dancer, singer, doctor, Boston Pizza greeter (her uncle works there), to be married and to kiss a boy (but not until she turns 16 according to her).

I have spent years studying, teaching and learning about Jordana’s abilities and applying my best skills to assist her to have the fullest life possible. All members of Jordana’s team (Doctors, Therapists, Teachers, Family, Friends, etc) have been amazed and extremely supportive of her progress.

Thank you for reading,

Wendy Taylor (Jordana’s mom)

Loïc Bydal (MPS IV A)

Loïc is an exceptional human being: what I’m saying is, he’s a SUPERHERO!  He was born July 4, 2003, four years after his older brother Felix. It was a surprise for my husband, Patrick and I, that we were carrying Morquio disease, a rare disease.  We dreamed of having a big family with four children.  I was already pregnant with Marilou, born August 29, 2004, when Loïc began to show signs of difference and the diagnosis of Morquio was made.  We feel fortunate that I was already pregnant when the diagnosis was made, since otherwise we wouldn’t have had our wonderful Marilou. As you can understand, being carrier of a rare disease gene is a strong barrier to a family’s dream.  We learned at that time that we had one chance in four to give birth to a child with this disease, and that there was a two out of three chance that Marilou and Felix could be carriers of the bad gene.  Today, Felix is 14, Loïc is almost 10 years and Marilou, who is unaffected, is almost 9 years.

Morquio syndrome

Loïc is physically very different.  He is a small person with pronounced bone malformations, but without developmental disabilities.  Other systems of the body are also affected (heart, lung, auditory, visual, etc).  Almost all children with Morquio syndrome one day find themselves confined to a wheelchair. The severity of the disease varies greatly from one person to another.  Loïc is severely affected.  Over the past year, Loïc facilitated his long journeys using a scooter.

Fun at school

At school, Loïc is like all his friends.  He loves to laugh, learn and have fun.  His favorite subjects are drama and physical education.  Loïc can’t participate in physical group activities because his spine is very fragile, but we adapt the activities to make them safe and he can have fun like no other.  For example, he played hockey or soccer with a friend or two away from the hustle.  Loïc easily learns the subjects taught at school, fortunately, since his absenteeism rate is very high because he is followed regularly by more than ten different specialists.  His greatest difficulty in school is to sit the entire duration of the class.  Even though he was far from being at the stage of requiring a wheelchair, we made the decision jointly with his occupational therapist to get him a motorized wheelchair with a tilting seat.  With this seat, it can be tilted backward to change its position and to allow him to rest.  We didn’t know at the time how this decision was crucial for Loïc’s future.

Experimental drug

As you know, Morquio syndrome is an orphan disease so few scientists are interested in studying it.  But, since November 2011, Loïc has been one of the lucky ones testing a drug specifically for this disease produced by the company BIOMARIN.  Every Sunday, Loïc and I leave the comfort of our home to receive the treatment, which consists of an infusion lasting about 5 hours, every Monday at Montreal Children’s Hospital.

Just before knowing that Loïc was selected for the study in October 2011, I decided to quit my job because Loïc suffered too often from pneumonia.  We frequently spent a full week in the hospital under supervision until his lung function returned to normal.  In December 2011, the director of Loïc’s schoo,l Mgr Charbonneau, gave me the greatest gift: the special education technician (TES) who was dedicated to Loïc at school found a better paying job.  Because of the shortage of TES, no one was available to take over.  The director offered me the position.  So it was a great pleasure to accompany my son to school and see how special education is critical to his and other children’s well-being and safety.

Life in hospital

For 9 months, Loïc was not hospitalized.  We thought we were invincible.  As a superhero, Loïc became a child like any other, without the fear of getting sick at the slightest whim of Mother Nature.  July 23, 2012 when Patrick and Loïc were in Montreal for treatment, Loïc has an asthma attack because of a nasty cold.  He was urgently intubated since he was in respiratory distress.  Despite this overwhelming misfortune, we were very lucky he was in the hospital when it happened.  He instantly received the best care.  During his first week of hospitalization, Loïc was kept in an artificial coma.  During the second week, he barely opened his eyes.  And unfortunately in the third, we realized that he had not moved in his legs …  Orthopedists and neurosurgeons made a nuclear magnetic resonance scan of the spine to finally conclude that part of the spinal cord (T4-T5) had failed to supply blood flow which caused ischemia and finally necrosis of nervous tissue.  It is now June 10, 2013 and our hope that he will walk again is decreasing.

Since then, our life has been like a roller coaster.  I had to find a foothold in Montreal, with Loïc being at a point of no return with his disease.  He was breathing artificially through a ventilator after the asthma attack.  The doctors tried extubation but without success.  He breathed only 10 minutes by himself and his heart nearly stopped.  They saved him in extremis.  Following this, no anesthetist was willing to try a second extubation.  The final solution was a tracheostomy.  This is not the ideal solution for a child with Morquio syndrome because there are several risks like high mortality rates, a weakened immune system and a recovery in the hospital for several months.

Finally to the inevitable: Loïc went to surgery for tracheostomy on October 2, 2012.  The surgeon (ENT) told us that the trachea was severely damaged due to his illness.  This is probably one of the reasons why he could no longer breathe on his own.  However, the surgery was successful and Loïc’s life is out of danger.

Every day, with courage and as a family, we face the obstacles that this disease puts us in front of us.  When a child suffers, the whole family suffers.  Felix is on the threshold of adolescence.  Marilou is still at the age where her mother must be present.  And we, as parents, need to remember that we are a couple with own needs.

This is our story! 

Our social involvement

In collaboration with the Foundation of the Montreal Children’s Hospital, we created the Loïc Bydal Fund to get involved in our own way for the cause of children with Morquio syndrome.  That is why we are raising funds to support research on the disease by Dr. John Mitchell, metabolic geneticist at Montreal Children’s Hospital.  If our help can make life easier for these children, we will be happy.  Together we can make a difference.

https://childrenfoundation.com/fundraiser/fonds-bydal/

You can read some testimonials from people who know Loïc and his joy of living!

And social involvement around us

Our daughter’s and Loïc’s school did a Halloween campaign funding for the second consecutive year for Morquio disease.  Students from St-Jean-de-Brébeuf’s school raised $612.  And this year, the students of Mgr Charbonneau’s school decided to give to our family the money raised ($1,900) in the form of gift certificates and gifts.  They spoiled us!

Even Uniprix pharmacy raised $122 to help the cause of Morquio’s children. Loïc’s cousin, François Xavier and his mother, Anne raised around $250 together.  Two Morquio’s mom, Isabelle and Patrizia raised respectively $236 and $200.  My cousin’s girlfriend, Julie Macdonald, decided to do a wonderful gesture of generosity for all Morquio’s children.  She raised $2,000 by participating in a half marathon. 

Here is the message she wrote on her page:
This year, I decided to push myself!  Inspired by my precious friend Marie-Andrée who made the San Francisco Marathon for the Leukemia Society and Lymphoma Canada, I decided to give myself a challenge.  On April 28, 2013, my challenge will be to race in the 21.1km Half Marathon Scotiabank Montreal. This challenge is for the cousin of my boyfriend, Loïc and for all children who suffer from Morquio disease.  This rare disease is still unknown.  My goal is to raise funds to support the research of Dr. John Mitchell, who is devoted to develop a treatment to improve the quality of life of affected children.  My sources of motivation in this adventure: Loïc an exceptional child, fearless, quick-witted and combative and his mother, Anik, who is devoting body and soul to the happiness and well-being of Loïc and his family.  Real models of perseverance, determination and dedication!  In preparing the half-marathon, I will spend several hours a week to train, rain or shine.  The challenge of the race, I’ll take on, but I need your help to raise funds for this cause.  All donations, even small ones, are really important! Thank you for your generosity!

I admire Julie McDonald, students from both schools, parents of children Morquio, Uniprix’s employees and all those who made donations for their personal involvement.  I thank them for being there for children as Loïc.  My life right now is a struggle every day.  I no longer have the strength to get involved as they are to pick up on.  Loïc is so lucky to be surrounded!  So we are….

Testimonials

Loïc made headlines in the site LA MOSAÏQUE DES MALADIES RARES du REGROUPEMENT QUÉBÉCOIS DES MALADIES ORPHELINES:

http://www.mosaique-maladies-rares.org/page9.php?view=preview&category=1&image=23

You will find here two small slices of Loïc’s life. Happy reading!  Please share as it allows us to better understand the discrimination and prejudice that can face kids with differences from other children.

Loïc made headlines in the Montreal Children’s Hospital employee newspaper.

http://www.hopitalpourenfants.com/fr/nouvelles/nouvelles.aspx?id=1222

***

Notre SUPER HÉROS Loïc Bydal

Loïc est un être exceptionnel, que dis-je un SUPER HÉROS ! Il est né le 4 juillet 2003 quatre ans après son grand frère Félix. Nous ne nous doutions aucunement, mon conjoint Patrick et moi, que nous étions porteur de la maladie de Morquio, une maladie rare. Nous rêvions d’avoir une belle grande famille de quatre enfants. J’étais déjà enceinte de Marilou, née le 29 août 2004, lorsque Loïc a commencé à montrer des signes de différence et que le diagnostic de Morquio est arrivé. Heureusement, sinon nous n’aurions pas eu notre merveilleuse Marilou car vous comprendrez que cela a mis un certain frein à notre rêve de grande famille. Surtout que nous avons appris à ce moment que nous avions une chance sur quatre de mettre au monde un enfant atteint de cette maladie. Et, deux chances sur trois que Marilou et Félix soient porteurs à leur tour de cette maladie. Aujourd’hui, Félix a 14 ans, Loïc a presque 10 ans et Marilou, presque 9 ans.

Syndrome de Morquio

Physiquement, Loïc est très différent. Il est une personne de petite taille avec des malformations osseuses très prononcées, sans déficience intellectuelle. D’autres systèmes de son corps sont aussi affectés (cardiaque, pulmonaire, auditif, visuel, etc.). Tous les enfants Morquio se retrouvent un jour confinés dans un fauteuil roulant. La sévérité de la maladie est très variable d’une personne à l’autre. Loïc est atteint sévèrement. Depuis un an, Loïc facilitait ses longs déplacements à l’aide d’un triporteur.

Le plaisir à l’école

À l’école, Loïc est comme tous ses amis. Il aime rire, apprendre et s’amuser. Ses matières préférées sont l’art dramatique et l’éducation physique. Loïc ne peut pas participer aux activités physiques de groupe car sa colonne vertébrale est très fragile. Mais on adapte l’activité pour qu’il soit en sécurité et qu’il puisse s’amuser comme les autres. Par exemple, il joue au hockey ou au soccer avec un ou deux amis à l’écart du tourbillon. Loïc assimile facilement les matières enseignées… Heureusement car son taux d’absentéisme est très élevé étant donné qu’il est suivi régulièrement par plus de dix spécialistes différents. Sa grande difficulté à l’école est de rester assis toute la durée du cours. Même s’il était loin d’être rendu à l’étape du fauteuil roulant, nous avions pris la décision conjointement avec son ergothérapeute de lui en procurer un, motorisé, avec une assise inclinable. Grâce à ce siège, il peut s’incliner vers l’arrière pour varier ses positions et se reposer. Nous ne savions pas à ce moment-là combien cette décision était cruciale pour son avenir…

Médicament expérimental

La maladie de Morquio est une maladie orpheline donc peu de scientifique s’intéresse à elle. Mais depuis novembre 2011, Loïc fait partie des chanceux qui font l’essai d’un médicament mis à l’essai spécifiquement pour cette maladie par la compagnie BIOMARIN. Tous les dimanches, Loïc et moi quittons le confort de notre foyer pour qu’il reçoive son traitement qui consiste en une infusion d’une durée d’environ 5 heures à l’hôpital de Montréal pour enfants le lundi.

Juste avant d’apprendre que Loïc était sélectionné en octobre 2011, j’avais pris la décision de quitter mon emploi parce que Loïc souffrait trop souvent de pneumonie. Nous passions fréquemment une semaine complète à l’hôpital sous surveillance jusqu’à ce que ses fonctions pulmonaires reviennent à la normale. En décembre 2011, la directrice de l’école Mgr Charbonneau m’a fait le plus beau des cadeaux. La technicienne en éducation spécialisée (T.E.S.) qui s’occupait de Loïc s’était trouvée un emploi mieux rémunéré. À cause de la pénurie de T.E.S., personne n’était disponible pour prendre la relève. La directrice m’a donc offert ce poste. Et c’est avec un immense plaisir que j’ai pu accompagner mon fils à l’école et voir à quel point l’adaptation scolaire est primordiale pour son bien-être et sa sécurité.

La vie à l’hôpital

Pendant 9 mois, Loïc n’a pas été hospitalisé. Nous nous pensions invincibles. Tel un super héros, Loïc devenait un enfant comme les autres, sans la crainte de tomber malade au moindre caprice de mère nature. Le 23 juillet 2012, lorsque Patrick et Loïc étaient à Montréal pour son traitement, Loïc a fait une crise d’asthme à cause d’un vilain rhume. Il a été intubé d’urgence. Malgré cette mésaventure foudroyante, nous avons été très chanceux, il était à l’hôpital lorsque c’est arrivé. Il a eu instantanément les meilleurs soins. Durant sa première semaine d’hospitalisation, Loïc a été maintenu dans un coma artificiel. Lors de la deuxième semaine, il ouvrait à peine les yeux. Et malheureusement à la troisième, nous avons réalisé qu’il n’avait pas encore bougé ses jambes… Les orthopédistes et les neurochirurgiens ont fait un scan de résonnance magnétique nucléaire de sa colonne vertébrale pour finalement conclure qu’une partie de la moelle épinière (T4-T5) avait manqué d’apport de flux sanguin ce qui avait causé une ischémie et finalement une nécrose des tissus nerveux. Nous sommes maintenant le 10 juin 2013 et tout espoir de marcher s’est envolé avec le temps.

Depuis, notre vie est comme des montagnes russes. J’ai dû me trouver un pied à terre à Montréal, Loïc étant rendu à un point de non-retour de sa maladie. Il respirait artificiellement grâce à un ventilateur suite à cette crise d’asthme. Les médecins ont tenté une fois de l’extuber, sans succès. Il a respiré à peine 10 minutes par lui-même puis son cœur a failli s’arrêter. Ils l’ont sauvé in extremis. Suite à cela, aucun anesthésiste n’a voulu tenter à nouveau cette extubation. La dernière solution était une trachéotomie. Ce n’est pas la solution rêvée pour un enfant Morquio car il y a plusieurs risques soient un taux de mortalité élevé, un système immunitaire affaibli ainsi qu’une convalescence à l’hôpital de plusieurs mois.

Finalement devant l’inévitable, Loïc a subi sa trachéotomie le 2 octobre 2012.  Le chirurgien nous a à ce moment appris que la trachée de Loïc était sévèrement endommagée à cause de sa maladie. C’est probablement une des raisons pour laquelle il n’arrivait plus à respirer seul. Cependant, la chirurgie s’est bien déroulée et la vie de Loïc est hors de danger.

C’est avec courage que nous affrontons en famille chaque jour les obstacles que cette maladie nous place devant nous. Quand un enfant souffre, c’est toute la famille qui en souffre. Félix est au seuil de son adolescence. Marilou est encore à l’âge où sa maman doit être présente. Et nous, les parents devons nous rappeler que nous sommes un couple et avant tout un homme et une femme avec des besoins bien à nous…

Notre implication sociale

En collaboration avec la Fondation de l’hôpital de Montréal pour enfants, nous avons créé le Fonds Loïc Bydal pour nous impliquer à notre façon dans la cause des enfants Morquio qui nous tient vraiment à cœur. C’est pourquoi nous amassons des fonds pour soutenir la recherche sur cette maladie grâce au Dr John Mitchell, généticien métabolique de l’hôpital de Montréal pour enfants. Si nous pouvons contribuer à rendre la vie plus facile pour tous ces enfants, nous serons heureux. Ensemble, nous pouvons faire une différence.

https://childrenfoundation.com/fundraiser/fonds-bydal/

Vous pourrez y lire quelques témoignages de gens qui connaissent bien Loïc et sa joie de vivre !

Et l’implication sociale de notre entourage

L’école de notre fille et celle de Loïc ont fait une campagne de financement d’Halloween pour une deuxième année consécutive pour la maladie de Loïc. Les élèves de l’école St-Jean-de-Brébeuf ont amassé 612$.  Et cette année, les élèves de l’école Mgr Charbonneau ont décidé de donner à toute notre famille l’argent amassé (1 900$) sous forme de certificats cadeaux et de cadeaux. Ils nous ont gâtés !!!

Même la pharmacie Uniprix a amassé 122$ pour aider la cause des enfants Morquio. François-Xavier, le cousin de Loïc et sa mère, Anne ont amassé ensemble dans leur entourage 250$. Deux maman Morquio, Isabelle et Patrizia ont également amassé respectivement 236$ et 200$. La blonde de mon cousin, Julie Macdonald, a décidé de faire un merveilleux geste de générosité pour tous les enfants atteints de la maladie de Morquio. Elle a amassé 2000$ en participant à un demi-marathon.

Voici le message qu’elle a écrit sur sa page:

Cette année, j’ai décidé de me dépasser! Inspirée par ma précieuse amie Marie-Andrée qui a fait le marathon de San Francisco pour la Société de Leucémie et de Lymphome du Canada, j’ai décidé d’entreprendre moi aussi un défi de taille. Le 28 avril prochain, mon challenge sera de parcourir 21.1km à la course au Demi-Marathon Banque Scotia de Montréal. Ce défi, je veux le relever pour le petit-cousin de mon chum, Loïc et pour tous les enfants qui comme lui souffrent de la maladie de Morquio. Cette maladie rare est encore peu connue. Mon but est d’amasser des fonds pour soutenir les recherches du Dr John Mitchell qui se dévoue à mettre sur pied un traitement et à améliorer la qualité de vie des enfants atteints. Mes sources de motivation dans cette aventure : Loïc, un enfant exceptionnel, courageux, vif d’esprit et combatif ainsi que sa mère Anik qui se dévoue corps et âme pour le bonheur et le bien-être de Loïc et de sa famille. De vrais modèles de persévérance, de détermination et de dévouement! Dans la préparation du demi-marathon, je vais passer plusieurs heures par semaine à m’entraîner, beau temps mauvais temps. Le défi de la course, je vais le relever; toutefois, j’ai besoin de votre aide pour amasser des fonds pour cette cause. Tous les dons, même les plus petits, sont réellement importants!
Merci de votre générosité! Julie McDonald

J’admire Julie, les élèves des deux écoles, les parents d’enfants Morquio, les employés du Uniprix et tous ceux qui ont fait des dons personnels pour leur implication. Je les remercie d’être là pour les enfants comme Loïc. Ma vie, en ce moment, est un combat de tous les jours. Je n’ai plus la force de m’impliquer comme ils le font pour ramasser des sous. Loïc est chanceux d’être si bien entouré ! Et nous aussi…

Témoignages

Loïc a fait la manchette sur le site LA MOSAÏQUE DES MALADIES RARES du REGROUPEMENT QUÉBÉCOIS DES MALADIES ORPHELINES:

http://www.mosaique-maladies-rares.org/page9.php?view=preview&category=1&image=23

 Vous y trouverez deux textes concernant des petites tranches de vie de Loïc que l’on retrouve sur le site des maladies rares. Bonne lecture ! À diffuser autant que vous le voulez, ça nous permet de mieux comprendre la discrimination et les préjugés que peuvent vivre ces enfants un peu plus différent que les autres.

Il a fait la manchette dans le journal des employés de l’hôpital de Montréal pour enfants :

http://www.hopitalpourenfants.com/fr/nouvelles/nouvelles.aspx?id=1222