sweetmarieT
Wish child's Mama
- Joined
- Dec 29, 2011
- Messages
- 81
"My wish is to go to Disneyworld and Universal Studios to meet all the characters, especially Harry Potter, get my own wand and my own Slytherin robe. As well I want to ride every single rollercoaster.” Cassies says.
I’ll tell you that we have had one heck of a journey with getting Cassie diagnosed. I often wonder, does everyone go through this or was it just us. We had to fight to get my husband diagnosed as well, so to say I was frustrated is the understatement of the century. I felt myself often so angry with our doctor that most times I wanted to scream at her or punch her which of course neither would help the situation.
It started early where Cassie would often cry in pain as a baby and toddler but we just didn’t know why. We asked our family doctor to check her over and she said it was just growing pains each time. She was quite late walking but with older siblings that did everything for her we thought maybe she just had no reason for walking. As Cassie got older and could tell us what hurt we would take her back to the doctor telling her about Cassie’s pain but again we were constantly being told that it was growing pains and to take her home. This continued for over four years when finally I had had enough. I walked into her office with the mindset that I was getting some answers. When our doctor again tried to say it was growing pains I told her after over four years of growing pains this child should be over seven and a half feet tall and she was not. I demanded that she start testing her to see what was wrong. I have arthritis so I suspected that maybe she had juvenile rheumatoid arthritis so I asked her to test for that. When the test came back inconclusive I was frustrated when the doctor wanted to just pass it off as nothing. I argued with her that it was abnormal for a child to start off at the top of the growth chart and off the chart and to now be at the bottom of the chart and off the chart. She had no answers to offer us so I told her that I was entitled to a second opinion and that we wanted to see a pediatrician.
We finally got in to see the pediatrician and right away I felt he was wonderful. He went over the blood test for arthritis and said he didn’t think it was that but he was unsure. He knew from the letter that our family doctor wrote him that I wasn’t ready to just back down without some sort of answer. He said although he specialized in children he did not specialize in arthritis so he wanted to send us to the IWK where there was a team there who specialized in arthritis in children. So off we went to the children’s hospital in the winter of 2007. We saw the team there where they told us that Cassie did not have juvenile rheumatoid arthritis but they suspected that she had Ehlers Danlos Syndrome. We were thankful to finally have a possible diagnosis. We were told that we would be put on the list for genetics so they could do the test to confirm but that it would be at least a year wait. So we went back and forth to the IWK every six months for checkups and to adjust her physiotherapy while waiting for the genetics appointment.
In early 2010, after repeatedly going back and forth with my husband to our family doctor with concerns with how his body was wasting away where we were repeatedly being told that “he was lazy and that he needed to start working out and getting exercise.” Finally our doctor was seeing what I was seeing and when she did a physical exam she noticed that his hands had very little strength in them so she decided to send him to a neurologist. In August 2010 he saw the neurologist who suspected that he may have Muscular Myotonic Dystrophy. We were shocked that he went from being lazy to being sick! During one of our planed visits to the IWK with Cassie, the neurologist asked if they could draw the blood to do the genetic testing for Muscular Myotonic Dystrophy on my husband. They agreed to draw the blood but we knew we would have to wait a long time to get the results. Finally in January 2011 we were invited for a teleconference at our local hospital with the IWK genetics team where they confirmed that Jason’s test was positive for the Muscular Myotonic Dystrophy. As you can imagine we were devastated. Well that day started a massive chain reaction that altered our world forever. In July 2011 my husband ended up in the Cardiac Care Unit in heart failure due to the MMD.
In April 2011 we took Cassie to the IWK for her genetics appointment expecting that she would have the test done for Ehlers Danlos Syndrome as well we thought that they would test her for the Muscular Myotonic Dystrophy at the same time. Well let’s just say it didn’t go how we expected. They refused to do the genetic testing as they said if it was positive we would alter her life’s path and that we would not be able to get life insurance for her. I flipped out and demanded a second opinion.
Finally on May 16th, 2011 we saw a pediatric Neurologist who finally agreed that we had the right to know what was wrong with our child. He asked me if I thought that she had it and I told him “Yes I believe she does.” He then told me that he was sorry but there was no easy way to tell us. He sadly told us that she does have Muscular Myotonic Dystrophy and that hers has indeed mutated. As much as we are heartbroken for our daughter we are at least somewhat relieved that we at finally have a diagnosis so we can at least get her the treatment that she needs rather than just being told that she was having growing pains.
I’ll tell you that we have had one heck of a journey with getting Cassie diagnosed. I often wonder, does everyone go through this or was it just us. We had to fight to get my husband diagnosed as well, so to say I was frustrated is the understatement of the century. I felt myself often so angry with our doctor that most times I wanted to scream at her or punch her which of course neither would help the situation.
It started early where Cassie would often cry in pain as a baby and toddler but we just didn’t know why. We asked our family doctor to check her over and she said it was just growing pains each time. She was quite late walking but with older siblings that did everything for her we thought maybe she just had no reason for walking. As Cassie got older and could tell us what hurt we would take her back to the doctor telling her about Cassie’s pain but again we were constantly being told that it was growing pains and to take her home. This continued for over four years when finally I had had enough. I walked into her office with the mindset that I was getting some answers. When our doctor again tried to say it was growing pains I told her after over four years of growing pains this child should be over seven and a half feet tall and she was not. I demanded that she start testing her to see what was wrong. I have arthritis so I suspected that maybe she had juvenile rheumatoid arthritis so I asked her to test for that. When the test came back inconclusive I was frustrated when the doctor wanted to just pass it off as nothing. I argued with her that it was abnormal for a child to start off at the top of the growth chart and off the chart and to now be at the bottom of the chart and off the chart. She had no answers to offer us so I told her that I was entitled to a second opinion and that we wanted to see a pediatrician.
We finally got in to see the pediatrician and right away I felt he was wonderful. He went over the blood test for arthritis and said he didn’t think it was that but he was unsure. He knew from the letter that our family doctor wrote him that I wasn’t ready to just back down without some sort of answer. He said although he specialized in children he did not specialize in arthritis so he wanted to send us to the IWK where there was a team there who specialized in arthritis in children. So off we went to the children’s hospital in the winter of 2007. We saw the team there where they told us that Cassie did not have juvenile rheumatoid arthritis but they suspected that she had Ehlers Danlos Syndrome. We were thankful to finally have a possible diagnosis. We were told that we would be put on the list for genetics so they could do the test to confirm but that it would be at least a year wait. So we went back and forth to the IWK every six months for checkups and to adjust her physiotherapy while waiting for the genetics appointment.
In early 2010, after repeatedly going back and forth with my husband to our family doctor with concerns with how his body was wasting away where we were repeatedly being told that “he was lazy and that he needed to start working out and getting exercise.” Finally our doctor was seeing what I was seeing and when she did a physical exam she noticed that his hands had very little strength in them so she decided to send him to a neurologist. In August 2010 he saw the neurologist who suspected that he may have Muscular Myotonic Dystrophy. We were shocked that he went from being lazy to being sick! During one of our planed visits to the IWK with Cassie, the neurologist asked if they could draw the blood to do the genetic testing for Muscular Myotonic Dystrophy on my husband. They agreed to draw the blood but we knew we would have to wait a long time to get the results. Finally in January 2011 we were invited for a teleconference at our local hospital with the IWK genetics team where they confirmed that Jason’s test was positive for the Muscular Myotonic Dystrophy. As you can imagine we were devastated. Well that day started a massive chain reaction that altered our world forever. In July 2011 my husband ended up in the Cardiac Care Unit in heart failure due to the MMD.
In April 2011 we took Cassie to the IWK for her genetics appointment expecting that she would have the test done for Ehlers Danlos Syndrome as well we thought that they would test her for the Muscular Myotonic Dystrophy at the same time. Well let’s just say it didn’t go how we expected. They refused to do the genetic testing as they said if it was positive we would alter her life’s path and that we would not be able to get life insurance for her. I flipped out and demanded a second opinion.
Finally on May 16th, 2011 we saw a pediatric Neurologist who finally agreed that we had the right to know what was wrong with our child. He asked me if I thought that she had it and I told him “Yes I believe she does.” He then told me that he was sorry but there was no easy way to tell us. He sadly told us that she does have Muscular Myotonic Dystrophy and that hers has indeed mutated. As much as we are heartbroken for our daughter we are at least somewhat relieved that we at finally have a diagnosis so we can at least get her the treatment that she needs rather than just being told that she was having growing pains.
