By Amanda Ripsam Do not copy!
My name is Amanda Ripsam, I am 30 years old. 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’s very 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 back yard 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 flash backs 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 over-powering 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
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
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
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
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
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
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
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.
I own a lifestyle health blog where I blog about mine and my
daughters medical journey. PR friendly. Love writing reviews
Are you a patient advocate for parents who have children with 22q
I offer parenting mentoring (yes I'm trained see certificate in
my social media photos)
I run local rare genetic disorder support group for parents of
children who have rare genetic disorders not just 22q.
I have 22q and gasteroparies, My daughter is 7 years old and has
a mild form of cerebral palsy as well as 22q. I have a father who
has 22q, three siblings of mine have 22q but we sadly lost one.
The youngest sibling died when he was six years old. I have a
step brother who does not have 22q.
I have a wonderful husband and three teen step children and of
course our child Isabella (Bella). I live in Otsego Michigan and
have Bella see the Crainofacial team at U of M. We lived in
Grand Rapids but now live in Otsego Mi a small town. Bella
attends public school and is mainstream with a IEP.
I have been blogging for a year.
this is a post I did and it got national attention. That was when I first started blogging. The blogging journey still continues years later. So has my editing skills. Thankfully. That was a long posts but back then when I wrote short posts I heard crickets and everyone loved reading the long posts. I have kind of stuck with that format. I have learned so much in 5 years of blogging. I’m looking forward to where this journey continues to take our family. I have enjoyed the phone calls, emails and late night chats with so many of you.
The thankful ness as I jumped from one platform to the next and you guys staying put following right along on my social media channels which is why I haven’t kept a blog following lists. I should have lesson learned.
Thanks so much for reading.