Posted February 1, 2023
22q and me…
We are born with 23 chromosomes and inside these chromosomes there are thousands of genes. So, what does this mean for me?
DiGeorge syndrome affects the 22nd chromosome. The syndrome is now known as 22q11.2 deletion syndrome, or 22q. All I know is that missing this tiny piece of chromosome causes extreme havoc for me and other individuals with this syndrome. Who would have thought that missing such a tiny piece would cause such HAVOC! Not just the medical and physical aspects of it, but it also causes some disorders of the brain.
It took several frustrating years for me to be diagnosed as a 22q patient, 42 years to be exact. At least now I have the right team of specialists attending my care, and they understand 22q. I am excited to know that the genetic testing can be done at birth: Fluorescent in situ hybridization (FISH) studies and other newer methods. It is very difficult what to look for because not all 22q patients have the same health issues or the same level of health issues. I have discovered that we do have a few symptoms in common to red flag the genetic testing for FISH; Heart defects, hypocalcemia, hypothyroidism.
So, from my personal perspective as a 22q patient this is what I have experienced. and continue to do so.
I was born with VSD: A ventricular septal defect (VSD) is a hole in the heart, 3 in fact. I did not have surgery. All I remember is that there were some tough times for my parents, and I was monitored closely for a few years, lots of visits to the hospital. As I got older the two holes somehow closed in. No surgery required. Just antibiotics before dental appointments. Dr. Lee said that I had one hole still open about the size of a dime. I wish I could speak with my Heart Specialist Dr. Lee from London, Ontario and let him know about the DiGeorge diagnosis. (22q)
As I got older, I loved sports and joined the neighborhood swim team and baseball team. I wasn’t as good as my siblings but enjoyed it. In swimming I occasionally came in third place and won an award for best sportsmanship in baseball, I even caught a few outfield balls and occasionally got on base.
At school, I was held back a year due to illness, so I attended the same grade as my younger sister. Not knowing I had 22q I was treated like everyone else in the class. I struggled with certain subjects like math and spelling. It took me years to figure out fractions. With hard work and determination, I graduated and received my grade 12 diploma. My favorite subjects were English, music and of course spare.
During high school I took the driver’s education program, and it was a beneficial program. As for parallel parking it seems my peripheral vision played a role in me failing that part of the test. After lots of practice I did pass it the second time. I wasn’t very good at parallel parking or comfortable with it so my friends knew if they were driving with me, if I couldn’t find a spot to pull into, we had a lot of walking to do. No parallel parking.
I always dreamed of being a police officer and a writer. After graduating high school I moved to the big city of Toronto and took the Law and Security program. I was nervous and excited, moving from my parents’ village home to the big city. First time away from home at the age of 18.
At that time, I still didn’t know I was any different than any other college kid, sick a lot but that didn’t stop me from socializing and enjoying college life. I enjoyed my courses, meeting new people and exploring the big city. Directions were not my strong suit; I will admit I got lost the first few times getting home from special events, ok more than a few. I have learned that landmarks are very important. At those times we didn’t have google maps.
I was still dealing with a lot of unexplained medical issues, chronic infections, migraines, and hypocalcemia. My doctor at that time looked like Michael J. Fox. He was very supportive of me. I always seemed to have more than one medical issue to deal with. He dealt with the issues he could and referred me to different specialists to deal with the other medical concerns, not knowing about the missing genes.
After college I applied to a few police departments and failed the eye exam (Peripheral vision) and the physical so my dream as a police officer was crushed. I worked as a security officer for a while. I did have some exciting assignments that I can’t name but also had some sleeper ones too. After a few years of working in security I decided to change careers and went back to school to get my Personal Support Worker Program diploma.
I worked in homecare and enjoyed working with seniors; it was my forte. My sister was posted to Kingston, so I moved in with her and was so excited about getting a job at a retirement home. They informed me that their Personal Support Workers not only provided personal care for seniors, the PSW were responsible for administering medications, insulin and responding to emergencies.
I really enjoyed working at the retirement residence. My coworker who I nicknamed “Jewels”, did an awesome job training me. She was very patient. It took me several months to learn the medications. (It involved some fractions), finally I received my medication credits. One evening it was extremely busy, we were short staffed with a heavier workload. Unfortunately, this particular evening I ended up getting injured while lifting a resident. I dislocated my left – clavicle, injured my neck and back. To this day I still suffer from chronic pain, numbness, and tingling to the left side and have a lump on my clavicle to remind me of the work injury.
It sure was a frustrating few years dealing with my work injury, I never dreamed that my work injury would be permanent. You think working double shifts, short staff, come in on your days off, your manager appreciates it. Maybe, maybe not…take care of yourself. When you get injured, they don’t care, and throw you to the wolves. (At least my company did) I was determined and battled my insurance company. They requested to send me to their doctors.
The one doctor they sent me to see about my injury was a sweetheart. He totally believed me, and I do remember him saying, “It was going to affect me the rest of my life.” boy was he right.
I did try and work because I did not want to believe my injury was permanent. But failed because my injury interfered with everything I did; I was not reliable. I had to be under strict restrictions. One employer told me I had the qualifications, experience, and seniors enjoyed working with me, but because of the injury I was considered a liability. I left in tears and came to terms I was never going to work again.
I started having esophagus and throat issues. Other annoying symptoms that I didn’t experience before my injury. Being yanked to the left side sure did lots of damage; enhanced 22q symptoms. My Kingston team of doctors wondered why I was not healing and decided to send me to the genetics specialist in Kingston. Six months later I was called into the specialist office for genetics and told I was born missing a piece of the 22nd chromosome. I was confused and cried, but also relieved. Finally, I had some answers. I was then sent to a team who specializes in 22q and they are located in Toronto, the Dalglish Family 22q Clinic. They truly have become my family. Very lucky to have them as my support team.
I am very appreciative of my family for their support, and I know when I was younger, I was a handful and will continue to be a handful… I also have great friends whom I don’t have to name, have been supportive and continue to be while I have been going through this process, true lifers. Unfortunately, I am not working. I had to come up with some hobbies…I enjoy knitting, writing, photography and creating family videos. I also volunteer doing wellness checks for seniors, and advocate for personal support workers.
I continue to have a lot of hiccups along the way but that is just a brief synopsis.