What does 22q11.2 mean to you?

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This is my oldest daughter and I.  She has 22q11.2 Deletion Syndrome, also known as 22Q Deletion Syndrome. All of my kids are AWESOME (that’s a mom’s pride for you!) but this gal overcomes obstacles EVERY. SINGLE. DAY.

Have you ever heard of 22Q Deletion Syndrome?  No? You’re not alone. However, it impacts as many as 1 in 2000-4000 people.  In fact, you may know someone with this syndrome.

22q is the most common rare syndrome

Behind Downs Syndrome, 22Q Deletion Syndrome, 22Q for short, is the most common syndrome. However, it is not well known due to the myriad of ways it can present in someone. In fact, in can affect the body up to 180 different ways. The syndrome was given many different names when first “found”.  DiGeorge Syndrome, Velo Cardio Facial Syndrome, Conotruncal Anomoly Facial Syndrome, Sphrizten Syndrome, and more names were all labeling the same syndrome with slightly different “symptoms” in the patient.  The most common traits of 22Q are:

  • Feeding Difficulties
  • Gastrointestinal Problems
  • Cleft Palate
  • Immune System disorders
  • Developmental delays
  • ENT problems
  • Obsessive Compulsive disorder
  • Anxiety
  • and Hypocalcemia

It can have varying degrees as well. It can be an obvious struggle or an invisible disability. For that reason alone, you should know about 22Q and realize a disability isn’t always obvious.  A lot of people with 22Q “look typical”. Yet, once you get to know them you may realize a few of their challenges. However, this doesn’t mean they don’t want to fit in and be included….just like everyone else.  Many with 22Q go on to lead a typical life, but may need assistance with work (like working part time or having a job coach), or may need constant medical supervision.

In our experience with 22Q our hurdles came with gastrointestinal issues and cognitive delay. Our daughter now attends the local community college taking 1 class at a time. We’re very proud of her. This was accomplished by pulling her out of mainstream schools and tutoring her the last 4 years of her schooling.  She uses tutors now to assist with her homework and work on life skills.  However, when we first had her tested we had a doctor tell us she wouldn’t move beyond 6th grade. That’s not what we were prepared to hear….nor accept.  Her path in school may have been unconventional. however, she is succeeding in her own way. I encourage professionals not to put limits on their patients.

Our daughters gastrointestinal issues became a big concern when she was vomiting and losing weight consistently.  She had struggled with constipation, gag re-flux, heart burn, feeling awful most days, lack of energy, and inability to eat regularly.  We consulted many doctors who quickly told us it was “just her anxiety”.  We decided to visit a 22Q clinic at Nationwide Childrens Hospital in Columbus, Ohio. After many tests the only thing we could determine was she had a yeast infection in her esophagus. The doctors couldn’t tell us any more than that. We treated the infection and I began to dig in to medical journals and articles.  As I did my own research I came across a term called “leaky gut” (a simple article explains that here) that fit our daughters symptoms to the “T”.  In the two years since we’ve known this and treated our daughter for it the medical community is grabbing a hold of this concept.  By the time I connected these dots, I was scared. Our daughter was grey, lying in bed every day, not eating, and deteriorating before our eyes.

Luckily, I had just changed my diet the year prior and was able to provide guidance. By removing gluten and dairy from my diet and focusing on eating whole, real food (not much processed) my “arthritis”, allergies, daily headaches, stomach aches, and restless nights of sleep all slipped away. Could it be possible that the same diet could help my daughter?  We made the switch for her. I couldn’t believe the results. I still review the diary I kept on her daily nutrition and the HUGE change we saw in just four weeks….because it’s nothing short of amazing.  However, it left me with questions: Why hadn’t the medical community suggest we change her food? Or suspect a food intolerance?  For thousands of people with 22Q that struggle with severe constipation, why not suggest removing dairy from the diet as it is a major inflammatory food and a culprit of constipation?  Also, the many that are prescribed proton pump inhibitors for heart burn, why not look at healing the gut and removing gluten and ADDING probiotics to the diet?

After our experience, I know now that many of us struggle needlessly. Changing your food can have a serious and positive impact on your quality of life. Having 22Q is a challenge all on it’s own, but not having to deal with some of the gastrointestinal issues on top of it all would be real blessing to many. Take note if you see similar symptoms in yourself or a loved one.

22Q may be considered rare, however, I believe it’s more common than first believed due to the multiple ways it can appear in those effected. There are those in the hospital with 22Q fighting for their life as I type this. There also those with 22Q who have “made it” in their own right and many, many in between. Check out this amazing video featuring a guitarist who has 22Q . If you  want more information, you can find a great video here.

Help me in spreading the word and share this article! Or tell someone this week about 22Q.

 

 

 

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