HomeOPINIONDeletion 22 – A Hidden Disability

Deletion 22 – A Hidden Disability

By AMY MAIORANO
Contributing Writer

Deletion 22q.11.2 is a genetic disorder, also known as Velocardial Facial Syndrome (VCFS) and DiGeorge Syndrome. In this disorder, the 22nd chromosome is missing. About one in every 3,000 people has deletion 22q.11.2. It is the second-most common genetic disorder to Down Syndrome. Often, people who have deletion 22 look typical, but there is a hidden intellectual disability.
Individuals with VCFS can have many different developmental problems, including cleft palate and throat symptoms, heart defects, eye problems, hearing impairment, low muscle tone, scoliosis, psychiatric disorders, language delays, a characteristic facial appearance, and many other features.
Each person has a different combination of characteristics, which impacts the person for his or her entire life. A diagnosis is determined through genetic testing before or after birth, but often it takes a long time for parents to find out.
I was diagnosed with deletion 22q.11.2 at age 10. For the first ten years of my life, my parents did not know what my disability was. I had surgery for a heart murmur and surgery on my eyes. I also have a submucous cleft palate, learning difficulties, and some difficulties with writing. Deletion 22 can be considered a hidden disability because when people first meet me, they think I am typical.
Sometimes I am grateful for my disability, but other days I get frustrated and wonder, “Why me?”
When I was younger, doctors said I would never be able to read or write, let alone go to college. Thanks to The College Experience, I have proven those doctors wrong. The College Experience has provided me with skills to live in an apartment with my friends, and to succeed in classes at Saint Rose. I have had met many incredible people and had great experiences because of deletion 22, which makes me feel like my disability was a gift.
Sometimes I have a hard time making new friends and have difficulty with life skills such as finances and telling time. These are the things that frustrate me, but thankfully I get support to help me improve in these areas.
One thing that I am very passionate about is advocacy. It is important to spread awareness of deletion 22 and other disabilities, so that people are more understanding and patient. Increased education and awareness can also create more programs and opportunities for people with disabilities. Advocacy is also important so that people with disabilities know that they are not alone. I advocate for people with deletion 22 by making speeches, writing on a blog, and creating music videos. You can follow my journey at www.speakingamy.com.

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6 COMMENTS

  1. Thank you for this article. I enjoyed reading the perspective of an adult with 22q. My 11 year old has 22q. Advocacy is important to me, too. Keep up the good work!

  2. My daughter is 7 years old, with 22q11.2 and Spina Bifida. She is our little angel, and we think every child with a disability is an angel as well 🙂 There is much to learn about the world around us, and living in this world of 22q- I wouldn’t have it any other way. Thank you for your article, for advocating and for being you 🙂

  3. Great article ! My daughter is now 19 and often has the same struggles as you. I really wish she would meet more people with her disability.

  4. Well said. My 21 year old also has 22q. We knew from a very early age that she had it due to genetic testing after birth. That was crucial in getting her the help she needed all through school. I wish there was more awareness because with awareness comes acceptance. Thank you for this.

  5. What an excellent article and positive light you have placed on VCFS. Thank you and I will follow your post. You are a blessing.

  6. No. The 22nd chromosome is present. It is a micro deletion on the Q arm of chromosome 22 at address 11. There is not always a cognitive disability. Many children are cognitively average or unaffected. Please get your facts straight.

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