Ivy'v Story What care and support is available for those with deletion 22q11 syndrome?


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Charlotte's story

Charlotte and her familyI was born in 1982 with low calcium at birth. I spent some time in an incubator at birth and after a few days it was stabilised and I was sent home, my parents unaware that I had tetralogy of fallot, and another serious heart condition.

This was revealed to them at my six week check up. It must have been devastating for them to find out their first baby had this serious condition.

As it was the 80's technology was not fantastic. When I was two, there were plans for me to have full corrective surgery but during the surgery they decided it was too risky, in which they did a shunt instead to help improve my quality of life.

I struggled as a child and teenager with physical activity. I could not run or walk very fast and had blue lips and blue nails. By the time I was in year 11 at high school, my health was really starting to deteriorate. I had to give up P.E and use it for a rest period.

At this time, there was talk about the possibility of having full corrective surgery. It was not until my first year in college that we started to take the thought more seriously. I had counseling with the cardiac liaison nurse and after a few months we decided to go ahead in June 1999.

The operation itself lasted up to seven hours. Then I spent two weeks asleep in intensive care. It was a rocky time for my family but I regained consciousness after the two weeks. When I woke up even though I was pleased to see everyone, I was in a lot of pain. I tried to ask to go to the toilet but I had no voice. It took a while before anyone understood what I was saying. In the end I tried to get up. I felt very weak and was in agony with the pins and needles. As I tried to walk I did not get very far and needed help. My foot could not go flat on the floor, I tried a few more steps but no luck I was in pain and I needed to lie down again. As time went on, we found out I had nerve damage and foot drop.

During the time I was in hospital, a consultant suggested I may have Di George syndrome because of my facial features. So I had some more tests and it was revealed I had Rheutmatoid Arthritis and as the consultant guessed Di George. This was a shock to all of us, my parents and sister had tests for Di George but there was no evidence in their tests.

I since, have come along way since my heart operation. I got married in 2001, and in 2006 had a beautiful little girl. Because of my condition, it was up to me to take the risk of having a baby, but I believed it was what God wanted for me and I knew that she was going to be fine. After I gave birth to her she had many tests done but all results came back she was fine and did not carry Di George. I was so happy.

The Di George has somewhat puzzled us though over the years. In 2002, I suddenly started having fits and was diagnosed with Epilepsy. More recently (2011) I was rushed into hospital due to a clot last April, then a couple more times for very low calcium levels. I am so grateful for all my friends and family who I know are praying for me and the levels have now gone back to normal.

I don't know what Di George has got up it's sleeve this year or years to come, but I am happy being me. I know God has a plan for me and maybe 'one day' the 'piece of the puzzle' may eventually come together.