A Young Woman’s Story of Living With 22q11.2 Deletion Syndrome


Nadia Zomorodian is one of the approximately 2,000-4,000 children born each year with 22q11.2 deletion syndrome. Although it receives less public awareness, it is believed that 22q11.2 deletion syndrome is as common as Down syndrome.

From day one, Nadia was a fighter. She was born with a congenital heart defect, which required surgery when she was only one week old. Nadia was also born with a cleft palate, which made it difficult for her to breathe and swallow properly, and caused her to develop aspiration pneumonia a total of 12 times before she was even two years old. She was in and out of the hospital throughout her infant and toddler years, and at age three, she was finally given the diagnosis of Velocardiofacial Syndrome, now commonly known as 22q11.2 Deletion Syndrome.

22q11.2 deletion syndrome is a genetic disorder caused by a deleted or missing section of chromosome 22. The deleted segment is present at the time of conception, and in 10 percent of cases, it is believed to be inherited from a parent; in the other 90 percent of cases, the deletion occurs by chance. In Nadia’s case, she is the only one in her family with a 22q deletion. This syndrome can affect many different parts of the body; however, it is variable between affected individuals, even within the same family.

As a result of her condition, Nadia had some difficulty in school— particularly with subject areas involving numbers. Her favorite subject in school was English. However, her cleft palate made it difficult to pronounce certain words and caused her to have hyper nasal speech, another key feature of this syndrome. When she was five-years-old, she had surgery to correct her palate (pharyngeal flap) and received speech therapy until her freshman year of high school. She is now much more confident when she speaks and has thrived in her higher education classes.

Though 22q11.2 deletion has been a challenge for her over the years, Nadia has not allowed it to define who she is. Even with mild scoliosis and bone pain, she played sports in school and continues to enjoy being active. She has a great outlook on life, and when she puts her mind to something, she gets it done. She recently graduated with an Associate’s degree in photography from Daytona State College in Florida and is currently in the process of applying for a Bachelor’s degree. Her goal is to become a crime scene photographer. When she isn’t working as a sales associate at Body Central or modeling, she is hanging out with her friends, taking photos in the studio.

Nadia has a great support system in her family and her friends. What is Nadia’s advice for someone with a new diagnosis of 22q11.2 Deletion Syndrome? “Everything will be fine, [do] not give up and just keep trying.” For her and her family, the 22q11.2 Deletion Syndrome educational conferences have been helpful tools. They have learned a great deal about the condition and have also established a wider support network. At last year’s conference, Nadia was chosen as the narrator for a film entitled The New Face of Genetics, which aims to educate medical professionals about genetic syndromes while maintaining the humanity of the individuals involved. As evident from the day that she was born, there is no doubt that Nadia will continue to grow and flourish. She is an inspiration to the those living with a genetic syndrome and a symbol that no one is defined by their disease, but rather by all that they are able to accomplish.

To learn more about this syndrome or to connect with others in your area, please visit https://www.22q.org/.

 

Thanks to Recombine for this piece.

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Global Genes Comments

  1. Victoria Killalea says:

    This article is amazing. What’s funny I do have 22.q deletion but I never knew I had it until I was pregnant and my daughter has it too. Right now my daughtet just turn 6 months old and she has a feeding tube cause she has trouble swallowing. I never had this problem when I was born. I was sick mostly, no heart problem. Just tiny ears.

  2. Amanda Jenkins says:

    Hello, I have a daughter with 22q11 del syndrome. She had open heart at 11 days old. She will be 3 in a few weeks and we just found out that she has scoliosis and it is progressing very aggressively. We were fitted for a back brace but cannot try ‘meta casting’ at this time due to her g-tube and anesthesia. I just want someone to talk to about this. I don’t know why her spine is really getting to me. We don’t know if it will compromise her heart or lungs at this time, and I am trying to do everything I can do prolong surgery…I would love to talk to anyone about this and hope to hear back. Thank you.

  3. Hi Ashleigh and everyone else 🙂
    Here is my email address it’s kayleigh.barnard85@yahoo.co.uk
    And my phone number is 07540443595 I would love to get in contact with as many people as I can with Deletion 22q11. My son and myself suffer from Deletion 22q11 and it’s just nice to hear we are not alone.

  4. My name is denise and I have 22 q deletion didn’t know it tell I was 30 my daughter stop growing at 9 months and that’s what started her journey at Cardinal glennon we have had 2 surgery a cleft pallet surgery and also back surgery which we are still in recovery not going to lie she is very well strong and hard to deal with but somehow we manage I love her and I would change nothing my kids is what keeps me going and she also has adhd theirs a light under every tunnel she is in 7 grade now and she focus and getting a little bit more social she likes to sew and do karate and plays in the band

  5. Ashleigh says:

    Hey nice to know that i am not the only one in this world with 22 deletion does anyone else who have this also suffer with hearing loss as i do and have had to have speech therapy and i was born with a hole in my heart as well as being born with the bridge of my nose so that is made of silicone and i also had problems with maths but loved science and english as i loved making up stories and making plays with my little sister for our family and friends, i am the only one in my family to have this as both my mum and dad got tested and they dont carry the faulty genes and the doctors also told my mum not to expect me to read write walk talk or sit up

  6. Ashleigh says:

    Hey nice to know that i am not the only one in this world with 22 deletion does anyone else who have this also suffer with hearing loss as i do and have had to have speech therapy and i was born with a hole in my heart as well as other things

  7. Hi all
    So nice to hear I am not the only one with deletion 22q11 I would love to meet and talk to people with the deletion so if anyone interested please get in contact with me 07540443595

  8. Wow it’s amazing article and thanks sharing for you.DiGeorge syndrome is a genetic disorder due to deletion in Chromosome 22 This leads to abnormal and poor development of the parathyroid gland, thymus and heart.
    additionally known as 22q11.2 deletion syndrome.
    I hope this helpful for you:http://www.pediatriconcall.com/fordoctor/diseasesandcondition/article.aspx?artid=147

  9. I am 39 years old and pregnant with my second child. This baby girl was diagnosed with Tetralogy of Fallot, (a hole in her heart, accompanied with the pulmonary valve not working properly and pulmonary artery being too small) she then was diagnosed with 22@11.2 DS. I was tested and do not have this deletion, and my first son is fine. I spent a few weeks wondering how this could happen and thinking about toxins, plastics, food dyes, the FDA, Milk, Meat, and fast foods, GMO’s, and preservatives, hating that Europe and other countries are better than we are where that is concerned. I don’t know what to think these days, just taking it day by day.
    She will need more than one surgery. I don’t know how things will turn out, and to be honest I am scared. Having trouble thinking of a name due to fear and all these emotions. Yet it was a comfort to me to hear that even with this syndrome someone can live a fairly normal life.
    All I can do is pray and have a little faith.

    Thank you.

  10. I also have 22q11.2 deletion syndrome. My father, my two half paternal brothers and half paternal sister all have 22q11.2. Myself and my daughter have 22q also. I sit on a board for a non profit the helps special needs familys. I am a stay at home mom I have my own blog that I run and share my person story on. I have gasteroparies as part of my syndrome and my daughter has a mild form of ceberal palsy. It’s great for my heart to read about other adults that are out there.

  11. A great story and very similar to mine i also have 22q and was born with cleft pallet however it was not picked up until i was 20 and pregnant with my son Ciaran who was born with a serious heart condition he is five now and due his fouth heart op he also has 22q11,i also struggled with maths bur was good at English i am studying my 3 year diploma in childcare and also despite back problems i recently ran two half marathons. I struggled in school and got badly bullied as i was shy but now since i’v had my son and a lovely partner i am stronger.Ciaran is in a speaclised school and loves running and music!he too is a fighter like you .it was lovely to read your story .good luck x

  12. To Whom It May Concern,

    It is a touching story and certainly one of inspiration. However, sometimes it doesn’t always end up rosy. I was born with the same deletion 22q11.2. I’m living it day to day and attempting to raise 2 small children. An 11 year old girl who has been diagnosed with the same condition since birth and a 5 year old boy who doesn’t have the condition. Both of my children are IVF children. My wife and weren’t able to conceive naturally. I also was born with Talipes a congenital condition of the foot. Sometimes, known as “club foot”. I guess I could lay claim to the fact that Dr Joseph Gobles of the Nazi Party during the World War 2 had the same condition. Although, I would never admit to it. I was diagnosed with 22q11.2 deletion when I was 39 and I’m now 49. I have issues, lots of them hidden baggage. This was due to the fact that my wife fell pregnant with our second child (or what we thought was our second child). She was later diagnosed with this congenital condition that I had never heard of before. We lost the child at 24 weeks. It was the hardest thing I ever had to do was decide to terminate that pregnancy. She isn’t forgotten and we gave her a respectful funeral and she sits out with my father-in law’s ashes out at our local cemetery. That was in 2003 and my father in law died in 20011. My father passed away in October 2010. My wife and I have our suspicions that he had 22q11.2 deletion and passed it on to me and I passed it on to our daughter. So, as it stands now, I’m 49, unemployed with no job prospects, my wife is finding it increasingly difficult to cope with the ever mounting bills. The only thing that I really can do and do well is play the guitar. I’ve been playing since I was 13 years old. My father won a guitar in a music store raffle .that’s one thing I can be grateful for. The fact that he won me that first guitar. Any way, that’s my story thus far. Wish me luck people.

  13. What a inspiring story! This truly put a made smile on my face. Thanks for sharing this story of not letting your disability define you. My son as a duplication and deletion at chromosome 11. Though not everyone is effected the same way your story helped me see no matter what the effects are to live life to the fullest is most important.

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