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


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SarahOur daughter Leah was born in April 1997. We had to wait 12 years for a diagnosis for her 22q11 Syndrome. Shortly after I was found to have 22q11 as well - my husband and son tested negative.

Then there began a long road of fitting puzzle pieces together. It had answered a lot of Leah's health and learning issues, and then the pieces of the puzzle fell into place for me.

Little snippets of information from family made sense e.g. when I had been born it was commented in the family that maybe I should have been given oxygen at birth, whether because I turned blue or more probably because of my very nasal voice.
Growing up I remember having white spots on my nails, probably indicating low calcium levels, difficulty walking long distances, and when I cut my finger accidentally it bled and bled and it worried me why it had not stopped sooner. I remember being given Syrup of Figs probably due to constipation problems. I also remember being given Milk of Magnesia liquid.
At school (both primary and secondary) I hated P E lessons. I remember also at school staring out of the window not being able to do the Maths lesson - in particular times tables. I found writing long stories very hard and not having any friends. Luckily at primary school in those days we had a pets corner and I immersed myself in looking after the rabbits and guinea pigs and they were my friends. I also had many many days off school as my school reports show very bad attendance levels - both at primary and secondary school.
Sarah ridingAt Secondary school I also remember struggling for what seemed an age in the exams - in those days CSE and O'Levels.

I remember being taken to a hearing centre but do not know the reasons for this (both parents are no longer alive to answer these questions). I remember having elocution lessons (I am guessing) to try and make my voice understood. I also remember having singing lessons on a one-to-one basis and hating it.

Primary school was a happy experience despite obvious learning problems. I left with not very good reports regarding marks, and the same for secondary school.
After secondary school and instead of going straight to college (as most others did) I chose to work briefly at a dog kennels and veterinary surgery, but knew I did not want to progress into the field of veterinary work. Instead I went to college for a year and did a secretarial course - again not great exam qualifications - and then went into office work and had several jobs spanning over the years which I could not seem to settle at.

Then I met my husband and we were married in 1988 - we had our son Luke in 1992 followed by Leah in 1997 who has turned our world around - but for the better. During both pregnancies I was monitored closely because my platelet count was low, but not quite low enough to stop both children being born by caesarian section.

I am currently a housewife. I stopped being a dinner lady in 2011. I have suffered with neck and shoulder issues for many years, and recent X-ray and MRI scans have confirmed chronic disc degeneration at C6/7 of my spine. Both the spinal problems and the platelet count are issues associated with 22q11. I had been advised that I should only consider light sedentary work, but in reality just the 5 hours a week as a dinner lady over four days was about as much as I wanted to put up with.
Sarah helping Max AppealFollowing diagnosis in 2009 it took me a little while to 'discover' the Max Appeal charity, its web site and its Facebook closed group community. I have obtained valuable advice from these sources, and certainly in respect of Facebook I hope I have contributed back positively. My husband and I have acted as the main 'hosts' for 22q At The Zoo at Whipsnade Zoo (two years) and Paradise Park (this year). We see so much benefit in the discussions that take place at these events that we started last year with a Christmas meet-up at the local Mead Open Farm (which we are repeating this year) and other (roughly quarterly) meetings open to any Max Appeal member.

With my husband Chris we spoke at the launch of the Consensus Document at the House of Commons. We were happy to attend a recent 'transition' meeting at the London Evelina Hospital on behalf of Max Appeal to raise awareness of our charity and what it can do to support families who experience problems with the 22q11 syndrome and its effects. My daughter Leah has not been left out of our efforts she made her own Powerpoint presentation about 22q to her school, and she has even featured as Miss July in the 22q.org International 2014 calendar.

As a family we will continue to be Max Appeal 'addicts' !