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


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Katie Jane

KatieJane shares her story as part of 22q Awareness Week

Image: katie_medium.jpgHello there my name is Katie Jayne and I'm here to tell you about my disability called 22q.11 deletion which is also known as Di George or Velo Cardio Facial Syndrome or VCFS for short, I am now 22 years old.

I live in North Yorkshire with my mum called Tracey she is my main carer and she been to every one of my appointments I also have an older sister called Charlotte she also got 22q but she got different problems to me. Our parents are divorce that happen when I was 16 years old I still get to see my dad every couple of weeks or when I want to see him and it my choice if I do want to see him. We found out about 22q in the year 1997 when I was about 5 or 6 years old down at Great Ormond Street Hospital because we got sent down by our local hospital just to see what was wrong with us.
The Doctors at Great Ormond Street hospital knew straight away what wrong us if it wasn't for them where would we be today in the year 2014 I wonder ?
Image: katie_and_charlotte_medium.jpgI had my first operation down at Great Ormond Street Children's Hospital in the year 1998 when I was about 6 or 7 years old, I was in straight after my sister Charlotte on the same day. Our mum didn't know what to do with herself when we had our palate operations on the same day, she always say now that there was one that slept for a week and another that didn't take their tablets. I was the one that slept for a whole week opps but I did wake up though.
Image: katie_and_friend_medium.jpgThe year 1999 was amazing because I had child of achievements awards, I went to Blue Peter Studios (which were down in London at the BBC Center) at the time! I also went to Lapland at Christmas time. My sister went to see her favorites pop band steps and she met them too when she was young though. When I was growing up I was in and out of our local hospital due to bad chest infections which lead to pneumonia when I was younger but now I just get a bad chest infection but that is only in the winter months now. Throughout my school life I had 1-1 support for 15 hours to help me in my lessons because I went to mainstreams school. In between my school and my hospital appointments I had to do speech therapy which I hated. When I was growing up I did Rainbows, Brownies and Guides which was fun to do. I also did some dancing too I did ballet for a couple of years but I can't remember what ages I started though. My mum said that I went on stage when I was ill and I went back into hospital the next day. I started disco dancing in the year 2002/2003 until 2008 (the year that I left school) it was on a Tuesday nights but it got swap to a Fridays evening but I had guides on and I didn't want to make myself tired. In between my school life I had loads of hospital appointments to attend which means traveling on a train to get to them. We had to travel to London for our Gosh appointments checks up which means I got to miss School. Sometimes me and mum got to go to Leeds Lgi for my back check-up and other different things.
Image: katie_and_max_appeal_medium.jpgIn 2003 I found out that I suffer with Scoliosis which means having a curve Spine which made me having back pain for the most of the time along with sharp chest pains which were annoying at times.

That lead to another serious operation which long which finally happen on the 6 of December 2011 when I was 19 years old and that was under 3 years ago coming up this year!

I've got a mixture of friends I wasn't popular when I was at school but I had some friends though which was the main thing right. There was one friend who looked after me,she was in the same form group. We always had our crazy sleepovers which were funny I remember one summer that we both got up at 4am just to get an bus to Leeds which wasn't until 9am in the morning. I have met some lovely people with 22q syndrome by going to Max Appeal trips/ meet ups if we can get there like it so nice to meet up with other families with this condition because they understand what we been through and we can have a laugh with them too I keep in touch with them by Facebook or Twitter if they got one.

I went to college for 3 years after I left school in (2008) up to summer 2011. For my first and second years of college I studied a foundation course which is like everyday life skills and in my third course I did Routes 2 employment so I met more friends through those course which I did. So in December 2011 I called for my Spine operation which I mention previously and it took place at Leeds Lgi which means I had to get to early to catch the first train out of our town! Because I had to be at Leeds LGI for 8am. The spine operation was 7 hours long I did wake up though! I was in intensive care for a couple days before I was aloud back on the main ward again, so that Christmas I was out of it because my back .

Image: katie_and_theatre_grp_medium.jpg

The year 2012 I was recovery the whole year but half way through I joined a choir.I did my first show in June 2012 it was called That's entertainment .The choir is on Friday evenings I love it I may be 22 years old but I don't look it I'm also in their theatre group which is on a Mondays evenings and their drama group on an Tuesdays evenings which helps me with my speech and my confidence up. Last summer and this summer with the community choir I performed a the open air theatre for the summer season.

I love performing on stage because it fun even when I was at school I did shows like Oliver! The Lion King and Grease. Every time I go choir and theatre group it my free time away from my appointments and just to be myself and just to have fun and sing because it help me with my speech and my confidence up by being on stage and when the choir go out in the community they are like another family to me.

I have met some famous celebrities in my time my first one was Konnie Huq former Blue peter presenter I met at child of achievement award in 1999 I met loads their I only remember Keith Chegwin because he gave me my Child of achievement award trophy.
Image: katie_and_cornation_st_medium.jpgIn 2012 on the 6 December after watching west ends show Wicked which is my favourite show! I met Gina beck who played Glinda the good witch at the time! Last year at Scarborough Ymca I got ask to Perform for Scarborough dag (disablement action group) summer fair, I met Hayley Tamaddon from Coronation street and former winner of ITV Dancing on Ice (Ice Skating programmed) .On April 6 2014 at Scarborough Spa held an Sci Fi event I met Colin Baker the 6 doctor from doctor who and Kai Owen he play Rhys Williams from Torchwood which is an spin off show from Doctor who. And also in April 2014 I met my Idols Jayne Torvill & Christopher Dean who are amazing at Ice Skating because they won gold at 1984 Olympics winter games also met Karen barber ,I went to watch Dancing on ice tour, because I was an fan of the ITV programme dancing on ice. The dancing on ice tour was amazing and I watch Jayne and Chris skated to Bolero which was amazing!! I hope one day I get a chance to meet my other idols like Kristin Chenoweth, Idina Menzel, Eve Myles, Jennifer Morrison, Ginnifer Goodwin, Lana Parilla ,Josh Dallas and Jenna Coleman because they are amazing.

Image: katie_and_family_medium.jpgIn December 2012 we had our last visit to Great Ormond street hospital just to see how we were getting on and we were getting older to. They were pleased with our progress and things were going right and we got discharged! I do miss Great Ormond Street because it has been a big part of my childhood I do think of it now and again.

The year 2013 I'm still performing with my theatre group and still travelling to my hospitals appointments at Leeds for my back check-up and my lip injection because I got to have Botox injection every 6 months I can't remember when I first had done but just to help me to smile better .

Last summer (2013) I started going Mencap only one day a week just to get me out in the day time and give my mum a break from me. Mencap is a place for people with learning disability there are mixture of young adults with different learning disability and I go on a Wednesday it an ok group. Now it July 2014 I got discharged from Leeds Lgi for my back yay but still go Leeds for my lip. I did have a support worker on a Thursday afternoon for 4 hours I have got my support worker on a Tuesday instead of Thursday afternoons now my Thursday support worker was called Noma we laugh an lot, and also did have another support worker though out of the summer called Dawn I still see them now again when out and about. In July was amazing because of my theatre group had some workshop trips it was my first outing with them. On Saturday the 5 July 2014 which was at Leeds and do the workshop and it was worth getting up at 6am just to go to Leeds and do the wicked workshop which was wicked and watch the show afterwards too ! I also did another workshop on Friday 25 July with Oliver Tompsett and his wife Michelle this was at Scarborough Ymca and we did Mamma Mia workshop. The workshop just involves singing and dancing which I love to do and they are my hobbies to do. Now it October I have started having support on Tuesdays afternoon instead of Thursdays my new support worker on a Tuesdays is called Danielle she takes me swimming once a month and we are also doing bit of cooking at home once a month. In sometime in November or December I will be having some teeth out but I don't know when yet but I will put it on in the max appeal Facebook group when I find out soon! So this I'm doing now I hope you enjoying reading this because this took me ages to type up. I hope this have inspire young adults, teenagers and their families what I have been through with 22q /di George and Velo cardio facial syndrome

cardio facial syndrome.

Thanks for reading this

Loves from Katie Jayne