I am planning to run both the London (23rd April) and Limerick (30th April) Marathons on consecutive weekends to raise much needs funds for 22q11 Ireland.
22q11 is the chosen Charity partner of Wyeth Nutrition Askeaton.
Your support will be greatly appreciated.
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Donating through JustGiving is simple, fast and totally secure. Your details are safe with JustGiving – they’ll never sell them on or send unwanted emails. Once you donate, they’ll send your money directly to the charity. So it’s the most efficient way to donate – saving time and cutting costs for the charity.
A RED SPOTLIGHT ON THE LEAST-KNOWN MOST-FREQUENT GENETIC DEFECT
November 22nd is the International 22q11 Day, a European movement to raise awareness about 22q11.2 deletion syndrome by illuminating many buildings in red across Europe.
22q11 deletion syndrome The 22q11.2 deletion syndrome is a chromosomal disorder that affects approximately 1 in every 3000 people. 22q11 Ireland has almost 200 members living with 22q11 deletion syndrome across Ireland and its numbers are growing.
22q11 can impact the body and mind in numerous ways, the most frequent of which include learning and behaviour difficulties, heart defects and hearing or feeding problems. The possible symptoms are very diverse, and everyone with the syndrome is affected differently.
The diversity of the symptoms of 22q11 patients makes a diagnosis very difficult. In fact, 50% of 22q11 patients are never diagnosed. Yet, an early diagnosis of 22q11 can lead to a much better life for people with 22q11 as earlier treatments of symptoms can curtail their severity. Besides, early diagnosis allows parents to better prepare the arrival of their child, it helps health professionals to better adapt their treatments and educators to better adapt the educational environment. Raising awareness with the public will thus improve the diagnosis and treatment of people with 22q11.
22.11 international 22q11 day has been gaining interest in the last few years. It is the first time this event takes place in Ireland. Several places supported 22q11 Day by illuminating their buildings The Mansion House and City Hall in Dublin, The Rock of Cashel, Civic offices Clonmel, Tipperary, Council Headquarters at Merchant’s Quay and Treaty City Brewery, Limerick.
22q11 Ireland is a member of 22q11 Europe, a network of 17 national organisations coordinating the 22q11 day. 22q11 Ireland aims to provide lifelong support for those impacted by 22q11, by welcoming and encouraging families living with 22q11.2 Deletion Syndrome with open arms and an empathetic ear, and by working to build a holistic care model that will help 22q11 patients and their loved ones throughout their lives.
“Hi, my name is Sarah Fitzpatrick I was diagnosed with de-gorge syndrome when I was 3. I also have scoliosis. I have 22q11 which I’m missing my 22nd chromosome.
I joined a group called Yeep group and I have long life friends I’ve met amazing people along the way who are just like me. I’ve always hated school had been bullied.
I’m now in national learning network and met more new amazing friends and my boyfriend who put up with me. I’ve always struggled to start conversations and how to socialize because I’m very shy person. I’m starting to come out of my shell every since I met these amazing friends of mine who have helped me.
I really struggle with school and it takes me long to learn things more then others but I did go in and put my head down to do the work did my leaving cert and got to where I am today. Even though I hated school I still had to go in and finish it.
It has been really tough but I got through it. I also really struggled to keep friends I have lost some along the way don’t think they really understood me but I am really am happy with myself and blocked those people who have brought me down.
Also, my mam has helped me through so much she is my best friend and always has been there with me I also wouldn’t be where I am today without my mam. I also can’t forget about my dad and my sister who also have been there for me x. This is my story.”
“Hi, my name is Siofra. When I was born I was diagnosed with 22q11. Deletion syndrome. I find learning hard for me and have a low immune system.
I completed a level 5 course in Ballyfermot college called office administering. Which was hard but I got through it. At the moment I’m currently studying a medical secretary course, getting a lot of assignments but it keeps me going through these tough times.
I also play sports. I play camogie and Gaelic football. But due to Covid all sports are cancelled which is annoying. But now I’m running 5k x3 times a week. My best time is 28 minutes, on average it would be 30 minutes. I picked this up during lockdown.
I also get loads of support from the YEEP group I made so many good friends from there.”
Hello, my name is Niamh. I am 27 years of age. I have a great family who support me and a great boyfriend who supports me too. I didn’t like 22q11 at the start but then I said life is too short so if people don’t like you for you, well then they are missing out!
I live with my mam and my dog Prince. Sadly and unexpectedly my Daddy passed away this year, we were all very sad. I also have a boyfriend who I can my best friend. We are together for four years now. I recently started a course, it’s online at the moment like everyone else’s. I go in 2 days a week and it will be 3 days a week when we get our new building. I have made two new friends already on the course, one is Irish and one is Chinese, they are lovely people and kind.
My hobbies are online shopping, even before Covid 19 came to the world! I love technology. I am hoping one day that I will have a job and a car and a family of my own. I love to go on a walk with my headphone to listen to music that calms me down.”
Kids with 22q need to believe in themselves and they need to believe in their dreams, their goals. They need to believe that they can have a life like everyone else, get married, have kids and have a job. They need to believe in themselves. They need to believe that they can do well in school – they can go to college and get an education.
Parents need to believe in their kids, need to respect their kids. They need to accept the fact that their child has 22q or their child won’t be able to live their life. When the parents accept it the child will too. Most number one thing to do – accept what you have. You do that and your life will change.
“Hi, my name is Amy. I am 25 years old. I was diagnosed with 22q at the age of 10. I had open-heart surgery at 3. I find it difficult to socialize and found it very hard to make friends when I was younger and sometimes still do! I struggled through school and was a very quiet person. I really didn’t like maths I could never work with numbers I still have to use a calculator for the simple things! I found it very hard to study in secondary school I couldn’t concentrate it would go in one ear and out the other very quickly.
I did enough to pass my Leaving cert and went on to study tv and film fetac level 5. I didn’t complete it as it wasn’t for me. I then did Travel and tourism level 5 and I loved it as I love travelling. I have been to Australia 4 times and I went flew once over on my own. I prefer solo travelling a lot more.
I am now looking for a job I am working with a brilliant service called employability in Cork where I have a job coach and he helps me with my CV and interview skills. I have found it very good so far and have had two meetings.
I am also part of the YEEP group and I love being part as I know I am not alone and I can talk to the other girls for support. I wish I had something like that when I was younger to help me understand it more!! I have my good days and bad days as everyone does but you just have to push through and know you are not alone with it.”
Is one of my biggest issues with 22q. Mammy finds it hard to believe that I can pick up a 10-pound bowling ball and roll it down the lane. Mammy is also amazed at me when I able to hit my spares. Many moons ago I wouldn’t be able to focus at hitting the spares. Part of 22q is we find it difficult to focus on a task at hand.
Every game that mam attends she does be so amazed at me. Yes, mam, I may have low muscle tone but it doesn’t stop me from picking up my bowling ball and learning about the game. 22q is only a name of a syndrome mam it’s not the name of me.
When I compete in competitions my low muscle tone gets stronger and my focus gets better. Now it’s better than ever cos I have a coach who is working with me. That makes a huge impact on my game. Ps, I love this photo Limerick games 2014 where I won gold and silver.
Amy (Cork): “My hope for the website is that I would like it to be a safe space for people, in particular for young people with 22q11,2 Deletion Syndrome, to find more information and to connect with others in Ireland who also have 22q.”
Emma (Kerry): “I would like to see the website as a way of CONNECTING those with 22q11 deletion, families, friends and supporters. Being able to CONNECT with others is so valuable and it will hopefully help the person feel like they are not alone.”
Aine (Dublin): “My vision for our new website would be that the children and adults are educated about 22q and when they see our success stories that they will be inspired to go after their dreams.”
Niamh (Dublin): “I hope that the new website will help young and adult people to accept 22q11 and talk about it with your family and friends.”
Siofra (Kildare): “I hope this website would let people with 22q know it’s okay to be who you are.”
Sarah (Portlaoise): “I really do hope that this new website will really help people understand what it is we have so my friends, teachers and family members can understand more. And have them on our website so they can understand it.”