Our Trip To Holland

January 14, 2017

 

It was May 9th, 2008 and I had been dating this incredible guy for only a few months.  He was in the military, posted in Petawawa Ontario, so we really only got to spend time together on weekends.  Every weekend he would drive almost four hours to see me, while I worked as a waitress every Saturday and Sunday morning to earn some spending money and finished my honours degree in Criminology.  It was a complete shock when he asked me to marry him specifically because I was trying to get out that I thought I was pregnant.  We were three for three a graduation from University, a wedding , and a baby. The next few months were super rough.  My morning sickness kicked in at six weeks on the day.  I would spend hours upon hours vomiting and trying to keep up with daily life.  I was put on some medication called dicletin, but it had really no effect on the vomitting at all.  I had a few extra scans to make sure the baby was growing properly, it was girl and she appeared to be well.  on January 3, 2009 I woke up late in the afternoon.  I had been having cramping for a few weeks but still had over a month to go so I thought it was those braxton hicks contractions everyone is always talking about. By 4:30 I felt this huge drop and being my first pregnancy I felt very scared.  After talking to my fiance at the time now my husband Sam, we decided it was best to go up to our hospital and get checked out.  After arriving at the hospital I was placed in room 18 A.  We were pretty sure I needed a c-section as the baby was breach the week before.  However after getting settled in the bed my nurse Tanya decided to do a quick scan to see where babies head lay.  Our little Ireland was completely standing up straight.  The nurse laughed and said we will get an I.V. in and have the doctor come examine you but your only 36 weeks today so it may just be early contractions.  Tanya left the room yelling down the hall to my sister who works as an OB nurse on this floor our buttons (what they call me) is in 18A. 

 

Suddenly there was a small popping sound and gush of water all over.  Sam ran to get some help and before I knew it my sister was in the room and checking me out.  Her face looked suddenly very concerned.  The baby is footling breach we need to go directly to section she told us.  Everything went so quickly.  The walk across the hall to the operating room, a spinal block the clocking of the blue curtain and then bam they said were trying to get her out but she is stuck badly.  Irelands one leg was already born so when they opened me up to remove her she was wedged tightly in my pelvis.  The doctor struggled thrusting my body off the bed as he tried to free her and pull her back through my incision.  Finally she was out and then the loudest most amazing cry I have every heard echoed through the OR.  Ireland Evangeline Rose Cormier was born at 8:40pm weighing Seven pounds Even and 18 inches long.  She had beautiful tuffs of strawberry red hair and an angelic face that could melt any heart.  After being fixed up in the operating room I returned back to my room to hold my presious babes.  She was perfect.  Although there was a black mark on her left hand.  I never took a direct picture of Irelands markings at birth and this is something I regret.  However by three months her arm was identlcal to the one above.  What's is this? I remembering asking the Tanya, oh they propbably just bruised her pulling her out.  Yes my sister said she was very stuck and it took alot of pulling to get her free.  It will go away. 

 

Three days later we were ready to leave the hospital. I undressed my little baby for the first time, getting her fully changed in to her going home outfit. This is when I saw the extent of her bruising. purple bruising, almost black in depth, of course I immediately panicked.  My nurses were amazing truly the best and they reassured me that I had, had a rough delivery and most likely it was bruising from that and it would go away soon.  Before leaving the hospital our family physician came in and assessed both myself and our beautiful baby Ireland, we were good to go home, that bruising should clear up in a few days but we will recheck her in a week when you come to see me in my office she stated.  I felt pretty secure it was a bruise it would go away.

 

The next week the bruising was still there, I had noticed that it appeared to spread when Ireland would cry or while I was changing her from giving her a bath.  I had asked a few people but no one really knew what to make of it.  Besides these strange markings Ireland was the perfect baby.  Completely content, happy, a great eater and a smile that could melt any heart. At our next appointment I explained our concerns to the our doctor she said she would send me to a specialist, a child pediatrician who would have a look at our baby just to make sure things were ok.  While waiting for the appointment that was only a month away we started to notice other things were happening to Ireland.  Her afflicted arm had a larger hand almost puffy looking but the skin appeared thinner, whenever we would take Ireland in to the sun she would scream in pain, she always had to have her eyes protected and if she was not covered she appeared to develop strange spots from the sun,  and very strange immunity Ireland was always sick always catching everything although we did are best to keep her healthy she just seemed to catch everything going around. Everyone told me she was fine that things were ok, but deep down I felt off, I felt like something was different, she was different but I didn't know what it was.

 

Finally we were able to see the pediatrician he recommended that we see a dermatologist and so a referral was sent.  In any other way Ireland was healthy she did have sun sensitivity and poor immunity but she was born at 36 weeks so was a bit premature and the doctor assured us things would improve as she aged.  The next several months passed with no word. Finally we got in to see the dermatologist, at the time we thought this would be the end, but in all reality it was the very beginning.  They didn't know what it was and they couldn't help us.  Over the next year we would see six different specialist non of which could identify what was wrong with our baby.  When Ireland became ill or cold, or cried her markings became very evident.  As time passed I was becoming more and more afraid of what this might be, maybe I didn't want to know.  It was a warm spring day in May and my friend and I were making lunch for our girls together.  Ireland was about 16 months old and was just conquering crawling.  She was my first child so I really had nothing to compare it too.  My friend made a comment about how her child was walking by 11 months.  11 Months?????????????????  How could that be Ireland didn't appear to be able to hold herself up to walk.  I instantly called the pediatrician and was booked in for the next day.  Ireland appeared to be strong he said but strangely gross motor delayed.  Two months later she was still not walking and no one could tell us why.  Specialist after specialist just kept reassuring us that in every other way she was perfect.  One doctor even told us to prepare that maybe she would never walk and this was just who she was.  We could move forward with further testing but so far everything was a mystery.  Ireland began walking on her knee caps.  That's right knee caps.  She walked everywhere like that, down driveways, floors, cement, wood decks just like she was walking on feet but it was her knees.

 Here she is, 18 months old and walking on her knees.  My brother Darryl was determined, he spent day after day with Ireland walking with her, holding her up and one day I came home from work to find her standing and though unsteady finally walking on her feet.  The very next day we were given a referral to another dermatologist.  He looked at Ireland from top to bottom and he said "I will be frank with you both, I have only seen this in a text book, I think this is what has often been referred to as Van Lohuizen Syndrome, here is the website of an organization in the Netherlands that may be able to provide you more information".  I asked what the condition entailed and he said I will be very honest I know very little about it but I do know there have been deaths associated with complications.  My heart sank, the room spun and I felt like my legs would give out.  That night I contacted the CMTC-OVM organization in the Netherlands and I spoke with Lex.  He told me he would be in Washington D.C. for a conference in the US in two weeks if I could make it, he would have a doctor present that could examine Ireland.  I didn't think twice, my husband could not come as he was posted three hours away, but my parents and myself and Ireland in her little car seat crossed the border and headed for Washington.  This is where I met Ed and Becky Gallis, they have a granddaughter now diagnosed with Cloves disease, but associated with CMTC, Ed introduced me to Lex, they answered all my questions and put my mind at ease.  Ireland would be ok, preventative measures are key.  Prevent infection, get problem areas checked immediately, stay on top of things, she would be fine.  The now late Dr. Orange was who finally gave us the diagnosis of Classic CMTC.  We had a name we knew what it was.  Lex, Becky and Ed helped to educate us and we then helped to educate others who came in contact with Ireland.  We then traveled to the states each year for the US Conference and were always eager to learn more and teach our doctors more about this rare condition.  In 2011 Ireland underwent a biopsy of her left arm in the afflicted area to send to Dr. Patel at Vancouver Children's Hospital who is working on Genetic Research in the field of CMTC and Vascular anomalies.  

 

In 2013 I met a local family through our church who had lost their son to complications caused by his CMTC.  there were other families and not just in other provinces but here in Ontario.  Many had no way of finding more information and were wondering around as lost as I was.  Many could not afford to travel to the states or the Netherlands and so I decided that I would try and fund raise to get enough money together to start a not for profit organization right here in Canada. It took me almost a year but May 4, 2014 the Canadian CMTC Foundation officially became an incorporated not for profit organization.We held our very first conference last year in April and were so happy to be able to bring other families together.  

This is Ireland today! Eight years old and still my rare care bear.  She is beautiful and perfect and she loves to teach others about her CMTC, why she wears a medical alert and how her glasses protect her eyes from the sun.  We stay close with Lex and his organization in the Netherlands as well as Becky and the US Organization, we know that although Ed has passed he will always be the CMTC Grandpa and angel to all our rare and special children.  Together we will learn more , we will be proactive and we will develop further treatments to help those who are afflicted and we will break barriers and teach others that rare can be amazing and we are what rare looks like! 

 

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