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Our beautiful daughter Jordyn was born after a normal pregnancy, and a long 17 hour labour. After they took her from me, one of the nurses came and whispered, "...she has an umbilical hernia", as if it was the end of the world. Nothing on that day prepared me for the roller-coaster ride I had just gotten on, and that the long ride up to the peak, had only just begun.

Other than the herniated belly button, Jordyn appeared to be a normal developing baby girl. Our only concerns were that she was throwing up through her nose, and that she had many ear infections in her first year of life, but no bells went off, and apparently this was something our family doctor considered 'normal' development. She didn’t seem to be concerned, so neither were we. Our daughter started to speak and form words at about 14 months, and she had a sweet high-pitched voice which was at times difficult to understand.

As a first time parent, you aren't handed a manual, and we struggled as to when we should first bring her to the dentist, so at about 17 months of age, she had her first dental check-up. This was when we were told that the dentist had noticed a slight split in her uvula, and recommended us go to Sick Kids to have this checked out.

We first saw a speech and language pathologist at Sick Kids, and we did some blood work, and within weeks Jordyn started speech therapy through Bloorview Macmillan in Toronto. At our first speech therapy session in November, we received a phone call from the Genetics Clinic at Sick Kids. We were told that the blood work we had done had yielded positive testing for a micro deletion of chromosome 22. What on God’s green earth is that? Our best source of information was the internet. Schizophrenia, Bi-Polar disorder, heart conditions, Auto-immune deficiencies, leg pain, along with the other 175+ “things that could affect a child with VCFS” overwhelmed us, scared us, made us fear the worst future for our baby girl. Within weeks we were headed back to Sick Kids for a hectic and frantic day of testing with various departments, including their genetics counseling.

It was emotionally draining, and both my husband and I left – none too impressed with the process. As far as we were concerned, we were done with ever setting foot in the genetics department again. They spoke in general terms, and did not provide us with any information that was directly related to our child. They couldn’t tell us what her future held, only what she’s predisposed to since she had the syndrome.

We returned to Sick Kids for more testing, and a videofluoroscopy confirmed that a half crescent is missing from Jordyn’s sub-mucous pallet and that surgery might only improve her hyper-nasal speech by about 25%. We also found out that she has a benign cyst on her kidney (which needs to be monitored), a perfect heart, and low calcium levels (which need to be checked annually). She was generally healthy…and that we could just take everything else as it came.

Since those hectic few months, Jordyn had her umbilical hernia fixed just before her 3rd birthday, and had been in speech therapy until the age of 6. I count my blessings everyday, and cry when I read about some of the struggles that other parents with children who have VCFS face. We are truly blessed that she has no other health issues at this time.

School, now that’s another story. In the beginning of Jordyn’s school life, we had a fear that she would be labeled and left behind if we told them what she wasn't until we did some psychological testing when she was 4 and a half, through Bloorview Macmillan, that we finally approached the school about setting up an IEP, Jordyn’s tests provided them with clear and concise results of what her learning strengths and weaknesses were, and yet, the school only made accommodations for her in the classrooms, they decided that since her scores were
'average', she would get along.

The problem is that she's not 'average', she as very strong rote memory skills, but has issues with reading and comprehension....a skill which becomes a major requirement of achieving success as you progress through your educational career.....we struggled, and battled and then she progressed to second grade, for us to start the process again. We kept telling the school that she needed to have a modified curriculum, not just accommodations....finally, the teacher told us that if Jordyn continued on the path she was on, she would not progress to the
3rd grade.

I thank God every day for Jordyn's second grade teacher Mrs. Kelly. She agreed that she would help with writing the IEP. Almost a year later, I look back, and realize that this woman was our “Guardian Angel”, she wrote that IEP like Jordyn was her own child, she took it upon herself to document every modification and accommodation she made to Jordyn's curriculum – she saw what needed to be done, and did it. I know that her own struggles with a special needs child drove her to do what she did….she knew that she was the only one who could help us help Jordyn succeed.

One thing I have learned through all this is that, as parents, we are our children's advocates. When I spoke with the genetic counselor at Sick Kids and asked her why they aren't promoting the heck out of this syndrome, she responded “with respect to advocating for the syndrome, we have been encouraging parents to get involved since the inception of the clinic. One of the issues is that everything we do above and beyond direct patient care (family days, newsletter, family directory, collaborating on guidelines etc.) is done on volunteered time. Thus we welcome a strong parent advocacy group to take the lead, and we would be thrilled to be part of this group, from a medical/clinical advisory perspective.” Unfortunately, parents do not have a way of influencing the medical community, and we know that many children aren't being tested for genetic disorders at birth, and that the medical community is not any more educated now about VCFS than they were 10 years ago.

I don't know what kind of difference I can make, but I wanted to try to do something. I can’t go through life, and feel that one person cannot make a difference. My Facebook group has already helped people, even if it’s only the comfort that as individuals affected by this syndrome, we are not alone. There are other parents out there who face the same issues, and have the same concerns. For me, I now know that there are people out there in their 30’s who have this syndrome and who lead normal lives. This helps me find the drive to keep this thing going. Knowledge is hope.

On June 24th, 2013 Jordyn graduated from grade school, and become a high school student. I cannot express in words, the pride I feel in her accomplishment. When she was first diagnosed with VCFS - I worried for her future. With determination and love she's made it through things that, way back then, we thought would seem insurmountable. Lucky for us, she took her challenges in stride, and achieved more than we ever would've hoped for her. We love her, are proud of her, and know that the next 4 years in High School will be successful for her, because she is who she is. Thanks for listening.


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