A Family copes with 22Q11.2 deletion syndrome written By Amanda Ripsam
A Family Copes with 22Q
This story is for the readers who have asked about my journey the hard the good all of it with 22q. I wrote this when I was 30 and I have to update a story on how I recovered from it but this is the first step towards my journey and healing this is what made me start my blog and write from my personal first hand experiences to help others.
Warning this will cause tears and maybe even painful memories for your self this story should not be read by children.
Please ask before sharing and posting any of my work on your site thanks for respecting the hard work I have put into this. Feel free to comment and subscribe if you liked the story at the end.
My name is Amanda Ripsam, I was born and raised in Toronto, Ontario, Canada. I now live in Michigan. I have 22q11.2 Deletion Syndrome, sometimes called DiGeorge Syndrome. Something that is unique about my family is that there are five of us who have DiGeorge: My father, my two half-brothers, my half-sister, and I. Unfortunately, one of my half-brothers passed away at the age of six. He died of a brain hemorrhage/seizure in his sleep.
I have a beautiful young daughter who is five years old. Her name is Isabella. She has DiGeorge, too.
This is my story. My earliest memory is from when I was in kindergarten. I lived with my mother in an apartment in Toronto, Ontario, Canada. My parents were married after I was born, but divorced a year later. I have no memories of my father being in my life until I was a teenager. My mother was raising me on her own until she met Al. We moved to Pickering, Ontario to live with Al in a bungalow style house in the middle of a rural area. There was a block of houses and then nothing for miles and miles around. I started first grade in a new school in a new house with a new man in my mother’s life and mine. No one knew I had DiGeorge while I was growing up.
The house was a brick house with a huge backyard and a huge front yard with the neighbor’s apple tree hanging over the front yard fence. The house forever haunts my dreams, during the day and night. I have flashbacks even while writing this story. I am thirty now. I know I am safe and happy, yet the feeling of remembering my abusive childhood is one of overpowering fear.
Al was a tall man who had adult children from his first marriage. I stayed in the old bedroom of one of his son’s. It was train-themed. He never made it my room with my style and likes. In fact, my room became a dungeon. I was locked in my room. The doorknob on the outside was locked and that was the only way in and out of the bedroom. If I had to go to the bathroom, I had to pee in a bucket. While Al was home, the bedroom is where I had to be. I was allowed to go to school only dressed in boy clothes, my body unwashed. I was only allowed to shower every three days, because that was one of Al’s many rules. My escape was school. I longed for weekend visits with my grandma, where I was allowed to be a normal child. I would scream and cry, “Please don’t make me go back there!”, but Grandma didn’t know the abuse that was going on.
I didn’t have the ability to communicate effectively with adults because I wasn’t allowed to speak around Al without fear of being slapped if I said something he didn’t like. Al used anything he could to slap me too: belts, TV remotes, shoes. He even had me stand in the corners on my knees for hours until he got home. Till this day I wonder “What did I do wrong?”” What made him do what he did?” I cannot even confront him, because he died of a heart attack when I was twelve.
This type of abuse went on for many years. I do not remember meals other than the lunch box I was given for school. Al would make the lunches so teachers never got on to what was going on. He always made sure to leave bruises under my clothes, meaning on my arm, but never my face.
I had rope marks on my arms from being tied up hog style. These are the memories which today, as an adult, cause me to wake up with night terrors and, night sweats, crying and sobbing or sometimes fighting Al off in my sleep.
One day my mother snapped. I was in third grade. I was getting ready for bed and my mother was brushing my teeth. My mother wanted me to lift my tongue and I just couldn’t. So my mother slapped me for not paying attention and for not listening to her. I still have the scar across my right cheek. The slap left a huge noticeable bruise; I went to school and had to tell a lie to my teacher that I hadn’t listened to my mother when it was time to put my coloring crayons away. My teacher called Children’s Aid (Social Services). Little does she know the impact. She probably saved my life.
The police came to the school and picked me up. There was a social worker in the back seat telling me, “It’s ok. You’re safe now.” She said, “Everything is going to be all right.” That social worker started the investigation and asked me tons of questions. I denied any type of abuse at the time because I was too scared of what would happen if Al found out and I had to go back home. I told a lawyer who was appointed to represent me, that my three wishes were for everyone to have peace, for the stars to stay in the sky, and that I wanted to live with my grandma.
I was placed in a foster home until my grandma was able to get court-ordered custody of me. I believe I was at the foster home for a year. I still attended the same school, wondering if Al would ever show up. He did one day, saw me behind a fence playing with some friends, and said, “Can I have a hug?” I told him “NO!” and ran to my teacher and he took off.
My foster home was full of kids who were there for different kinds of reasons. I shared my room with another foster kid. The family was a very nice, warm, loving Jamaican family. I only remember their first names were Joy and Lambert. They gave me my first taste of Jamaican ox tail with beans and rice. That became my new favorite dish.
I learned how rules were really made. There was a list of rules in our bedrooms for us to remember– cleaning up after ourselves, as well as keeping the bedrooms clean. I learned how to do house work the right way without being yelled at if I washed a dish the wrong way. I had Christmas there that year. I got my first pair of ice skates from my foster father, the only man who showed he cared about me other than my grandpa.
My grandma finally got custody of me when my mother gave up her rights. When I saw my grandma for the first time after a year, I had forgotten what she looked like, but I knew it was her by her perfume and her voice. I started at a new school just after Christmas in fourth grade. I started to learn how to read and write. I also started to be taken to the doctor’s, I even had my first pair of glasses, and they were sparkly pink.
At this point in my life, my father stepped in. He had fixed his act and was no longer a drunk. He was still a deadbeat, but not a drunk. My dad asked me if I wanted to go on weekend visits to his place now that I was living with my grandma. I went a few times, met my stepmother, and she was very nice.
She had another kid who was younger than me. He was my stepbrother, now. My stepmother and my dad had their first baby together, and I now have two half bothers.
The new baby was fine until he turned one. Then he had a seizure after eating turkey for Christmas dinner. My dad and stepmother rushed him to the hospital, and the doctors there did a ton of tests, including a FISH genetic test. The test results came back and the doctors told my stepmom and dad that the baby had DiGeorge Syndrome and that it was so rare the doctors couldn’t find any research on it, other than from 1984, the year after I was born.
They started to treat my baby brother for hypocalcaemia and low iron; He needed meds to make sure he didn’t seize up. Even so, he still had seizures from time to time. My stepmother and dad decided to have another child. Knowing my brother had DiGeorge they got my sister tested at birth. She was also put on treatment for hypocalcaemia. Every day both kids took their meds, but something was wrong with them growing up. They had trouble learning. They had trouble listening. They had trouble potty training.
My dad and stepmom had more doctor visits and testing done. They decided to have themselves tested as well. My stepmother’s FISH test came back normal, but turned out that my father has DiGeorge.
My father never really looked into how to get treatment for himself or how DiGeorge affected him. He was fine and didn’t show any symptoms other than the facial features and the hearing loss. At this time I was bouncing back-and-forth between living with them or with my grandma. I decided at fourteen to give moving in with my dad and step-mom a try. I turned into the maid, the cook, and everything else my dad and stepmom were too lazy to do. The only thing my dad did was get a restraining order on my mother after she and her mother visited me at school one time.
I moved back in with my grandma around age fifteen, and I went to a school I wanted to go to. I was tested to be in general or advanced classes, so in junior high I took general classes, but I was bored with those. In high school, I took mostly advanced classes except for math. I failed math class every year and only passed it in summer school.
Summer school is where I met my first love. I went on my first date and had my first kiss. I was once again living at my father’s. I was sixteen now. The next day my stepmother over-dosed on Tylenol. I had to call 911 to get an ambulance to take her to the hospital so we could get her stomach pumped. She was dealing with depression because of the two kids having DiGeorge and my father having DiGeorge and not being able to get treatment of any kind because doctors didn’t know what to do.
My stepmother was in and out of hospitals. To escape, I spent more and more time with my high school boyfriend. I started to focus more on my friends than on being a brainer at school. I started to skip class just so I could get away from the world. I decided to move back in with my grandmother for good because my grandpa had cancer. Moving back in with my grandma was the best choice I could have made. I was loved. I was cared for. I was protected from the outside world. I started a babysitting job. I also got my first real job at McDonald’s. Then I moved on to a job at a photo lab in a grocery store.
I was going to school every other day as well as doing my co-op in a hair salon every other day to earn school credit hours. I learned all the ropes—how to shampoo and blow dry client’s hair, how to
sweep the floors, how to wash the windows. I learned how to answer the phones and how to dye client’s hair, I learned how to do nails and make-up, and I learned how to run the tanning bed. I learned the ins and outs of what was needed to run a salon.
I learned how to do it all. I even learned how to do a basic trimming of hair. I got to play with a mannequin and did up-dos and perm rods and practiced highlighting with conditioner on the mannequin’s hair. That was my favorite part.
I learned how to do the social interaction that earned more tips from customers. I liked that too. I learned how to sell hair products and do bookkeeping. Then I started to look for a job, because my co-op time was almost up. I was hired at a salon, where I was an assistant. I still kept my photo lab job. This was all while I was in high school, the two jobs plus babysitting. I was doing well in high school until I got to my twelfth grade. I failed one English class and didn’t get the credit because I was too busy having fun with my boyfriend. The biggest regret I have in my life is not finishing my high school diploma with just one credit short. I didn’t go back because I thought I was doing well with my jobs, and I needed the money to start living on my own.
My boyfriend and I started to drift farther and farther apart. I started to chat with people online and found a guy who is now my husband. We have been together since February 23, 2005.
When I was twenty-two, I went back to Toronto and got tested for DiGeorge after my stepmother pleaded with me to get tested. I tested positive. Around the same time I was tested my step mom gave birth to my baby brother who passed away at age six. He too tested positive for DiGeorge Syndrome
I was twenty-four when I got married and got pregnant. I did have a complicated high-risk pregnancy. I always was sick during my pregnancy. I don’t think there was a day I didn’t throw up. I started to pass out, and they put me on bed rest. I refused an amino test as I knew I could have my kid and get a FISH test. I wasn’t planning on aborting my child, healthy or unhealthy.
I had developed hypocalcaemia as my daughter was pulling the calcium from me. No matter how much calcium supplements I was given to take, or milk to drink, it wasn’t enough. My levels stayed at three during my pregnancy; my iron levels were also around six. I could not afford the medications to treat it, so bed rest it was. I had a lot of amniotic fluid. I started out being 135 pounds and my last weigh-in for pregnancy was 198 pounds. I’m only five foot two inches tall. You can imagine the leg pains and the back pains I had. I gave birth to a beautiful seven pound, five ounce baby girl, Isabella. She started to turn blue and had tremors in the hospital. I urged the doctors to do a FISH test. They wanted to wait a week. I was against the waiting; I said it needs to be done now.
They tested her and, sure enough, she has 22q deletion, too. She has a history of lower left blood pumping into her left chamber of her heart, but the heart issue resolved itself. She has had seizure like activities and a history of hypocalcaemia. We had feeding issues and ended up having to thicken formula with rice to the consistency of honey. We did a swallow study which revealed she had reflux, and I could not breast-feed her because she would puke it up through her nose. I did pump my milk into her formula to mix it with the formula and the rice to add more nutrients.
Isabella has had speech delays and didn’t start talking until she got her first set of ear tubes, and I thought, oh no history is repeating itself. She sounds hyper-nasal. She is currently involved in pre-school programs and is having some learning difficulties and some emotional outbursts. Speech pathology services are provided two times per week. I am a strong believer in practice makes perfect, so Isabella and I practice on her speech every day. Isabella has occasionally had blue lips and restless sleep patterns despite best efforts at a sleep routine and melatonin.
Isabella’s hearing is within functional limits; she has been seen by a local doctor since she was two years old when they placed her first set of tubes in her ears.
Isabella presents with Velocardiofacial Syndrome. Her symptoms are face, including small hooded eyes and small ears. She eats regular food and does not have nasal regurgitation. She’s growing normally although she has some learning difficulties.
Bella has low muscle tone in her palate in her upper mouth so we have to go to a palate specialist. We also have her in speech therapy. Her articulation has improved and she also has had tubes in her ears. The doctor just put her on medicine for her allergies and that’s helped with the runny noses and the dark circles under her eyes are starting to fade.
She will be happy one minute and in a tantrum that’s uncontrollable the next due to emotional and physical ADHD. We have just started her on meds.
Testing of the newborn is not only important for the newborns but testing is also urged by me because of my story. Overall, you wouldn’t be able to tell there was anything wrong with Bella or myself in physical appearance. We also don’t sound like there is anything wrong with us either. I was one of the lucky ones who knew I had 22q deletion before I had my daughter Isabella. My father has 22q deletion. Three half siblings of mine have it. We have to get rid of the fear the unknown brings of a new diagnoses and start treatment as early as possible. We all want to be around for our kid’s graduations and other important life events. Why wouldn’t we want to be tested to get treated for symptoms that have or have not been around? Each and every one of us with 22q is very different.
Copyright 2014 Amanda##