Digeorge Syndrome and 22Q deletion – Ruari Facing Open Heart Surgery Again

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My five year old son Ruari has Digeorge Syndrome or 22Q deletion. He was diagnosed when he was approximately two weeks old following emergency open heart surgery.  The first year wasn’t great, but he gradually got over some of his issues and grew stronger.  
Ruari is facing more open heart surgery in 2012.

We are lucky to have him in our life, to most people he looks and acts normal so they don’t know there is anything wrong apart from being a bit short and so cute.

We will never stop worrying about what is around the corner, but one of his cheeky, wee smiles and kisses make it all worthwhile.  We love him more and more every day.

Sharyn Brown
United Kingdom

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  • Sandy Brown

    I am Ruari’s uncle, No one can fully appreciate the grim reality that this condition brings, and how close we have come to almost losing him at times, he has come a long way over the past few years and fought every battle that has come his way. In recent years he has undergone serious heart surgery and come through it all and now seems the better for it, so there is always hope for him and other kids that have his condition. As stated by Caroline (my mum), Ruari likes his computer games and does at times where possible cheat, surprise, surprise, although in the normal sense he is very competitive and determined to win, his favourite games are those of the Star Wars series on the wii, after all only a true Jedi plays them almost naked. Likewise he is very good at telling you how to play your games and doesn’t like it when you play the game different to what he suggested. We love him dearly for him being just himself. Love you!!
    Uncle Sandy XX

  • Caroline Brown

    Ruari is my grandson. His heart issues were: interrupted aortic arch, ASD & VSD for 1st operation, and aortic stenosis for 2nd which was 2 years ago. He has other issues as he has no thymus or parathyroids & also has hypermobility of his joints. Despite the immune system problem Ruari seems to be no worse in terms of infections than his classmates & he enjoys playing with his friends at school. He loves to “back seat drive” & remembers the turnoffs! He also loves computers & games, also the Wii. We know when he is not feeling well as he goes off his food. Ruari has gone from being NG fed to eating more or less anything, loves fruit & it is a struggle to keep the fruit bowl filled when he is around! His sister is also a fruit bat! And Tessa, I admire your tenacity & am so pleased that you have such a special talent.

  • KimKim

    Hi, You have a cute kid! He has the capability to live a long life! Just keep loving and supporting him. I am 45 years old and just found out this week I have DiGeorge syndrome. I have over 30 symptoms, congenital heart defects, laryngeal vocal web/stenosis, narrow eyes, low set ears, many more. I had feeding difficulties as a baby, in and out of hospital. DiGeorge was discovered in the 60’s so it wasn’t very common or well known during my childhood to be diagnosed I guess. However, the doctor’s at U of M said to my parents when I was born the droopy smile, white streak in hair, heart defects was indicative of a heart syndrome. I had a baby when I was 22 that had this and she lived in the hospital for 5 mos and died of complication of heart surgery. I only started researching this past year when I wanted to have the vocal web removed and started putting it all together and all the symptoms and suspected I had it. I had the FISH test and was confirmed. I had learning disabilities as a child, bad grades. Today, I have found out I have a hard time keeping a job and I find out from reading that other’s who are adults do too. I have been fatigued my adult life and couldn’t figure out why, now I know. I have developed a cough/sore throat, ear ache, for 4 years and just diagnosed with esophagitis and esophageal ulcer Also found out I have an S shaped esophagus. The ulcer and esophagitis I am positive is my throat/ear/cough issue. I am on Dexilant now. I take iron as mine has been low. I want to mention I have 2 beautiful healthy kids 21 year old son and 15 1/2 yr old girl. I am finding out as I get older I am having more issue’s. I stay fit and healthy and will even moreso now as I have no idea what is in store for me in my old age. There are many chances for a “normal” life for your children, but of course will have difficulties along the way. I also have scoliosis. At least I have a reason why for everything and am relieved to know it is due to a diagnosis rather than having no idea what. Take care god bless, Kim

  • sally

    My nephew has this and if is now 12 years old. We respect every day that we are blessed with his good health.
    United kingdom

  • fiona

    I have a 15 year old that was diagnosed with di George when he was 3 months old. He has recently had his 3rd open heart surgery and he too used to be little and cute. He has problems mixing with his peers, always has. But would’nt change him for the world x

  • https://www.tkdonline.weebly.com Tessa Koller

    Your son sounds amazing, and is adorable! I live with 22q11/VCFS/DiGeorge Syndrome and I am 27 years old, going to be 28 soon. At ten weeks of age I had open heart surgery, and almost had it again when I was 25. My doctor decided to not put me through the surgery because they my situation was not as threatening as they thought. Since I don’t know your son’s situation thoroughly, and I can’t say that everything will be okay, I can promise you he is full of hope and possibilities. I was taught to not fear the things we can’t control, and to focus on the abilities I possess, and tell him to always believe in himself. Though I live with serious health issues too, I still managed to find success in my fashion design career. Anything is possible when we focus on the positive, our abilities, and believe in ourselves. Take everything one day at a time. If you have any questions or just want to talk, don’t hesitate to message me.

    • https://theglobalgenesproject Anita Blue

      Hello one of my relatives has digeorge syndrome and he has gone into hospital to have heart surgery at the age of 1 and a half years. I just wanted to ask you can you give my some more information on what type of surgery has to be done and what are the risks. Thank you

  • https://facebook Caroline hall

    Thats lovely sharyn. Love Rurai’s story and your description of his loving nature. He is a gorgeous boy.

    You are right we are so lucky to have our kids. xx

    • irene sam pash

      my daughter has twins boys ( identical ) have digeorge and 16 years old,they have follow ups in montreal 2-3 times a year, are on medication now which are helping

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