I love finding adults with 22q deletion who are out there giving us a glimpse into their lives by sharing their stories, and giving hope to moms like me raising young kids with 22q. Which is why I’m so excited to introduce Amanda Ripsam! Amanda is a writer, motivational speaker, and 22q advocate. On her blog, Mommies Quiet Place, she writes about her life with 22q deletion syndrome and her experiences raising a daughter who also has 22q deletion. In most cases, 22q deletion happens spontaneously in utero. But, Amanda and her daughter actually inherited the deletion. Amanda’s family history with 22q deletion is really interesting, and it is amazing to see how her journey with this syndrome has shaped her parenting and career. Here’s her story in her own words.
My name is Amanda Ripsam, was born and raised in Toronto, Ontario, Canada. I now live in Michigan. I am 33 years old with a rare genetic disorder. I have 22q11.2 Deletion Syndrome. Other names for it depending on who you ask are Digeorge syndrome, Velocardiofacial syndrome. Basically all it means is on the 22 chromosome I have a piece of genetic material that is missing which is partly why I don’t look my age. I am often told I look ten years to five years younger.
This is me with my husband and step children this is one of the photos we have that have all of us in it. Usually I’m the one behind the camera. They weren’t too thrilled about the hey let’s take a family photo with out notice but they are awesome for being still and looking. That takes talent when they all have adhd.
We have a beautiful girl who is in 2 grade who has 22q11.2 Deletion Syndrome she also has a mild form of cerebral palsy that’s why she’s wearing leg braces.
I am also a wife and step-mom this is our family. Some more pictures of the kids at our wedding and again after Bella was born. Yes Bella was at our wedding too inside my tummy. Which is why I opted to have a small wedding, less stress.
Something that’s very unique about my family is that there are five of us who have DiGeorge 22q11.2 deletion syndrome: My father, my two half-brothers, my half-sister, and me. Unfortunately, one of my half-brothers passed away at the age of six. He died of a brain hemorrhage from a seizure in his sleep.
I have two half brothers and a half sister. Same father, different mother and I have a stepbrother who does not have the same father or mother that I do. All of my siblings are younger than I am.
It all started with my brother he 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 my brother a one year old baby had DiGeorge Syndrome and that it was so rare the doctors couldn’t find any research on it, other than from 1984.
They started to treat my baby brother for hypocalcaemia and low iron; He needed meds: caltrio, a compound calcium, and fernsol iron to make sure he didn’t seize up. Even with treatments my brother he still had seizures from time to time. My stepmother and dad had a few years before they decided to have another child. Knowing my brother had DiGeorge they got my sister tested at birth. Which is why newborn genetic screening is very important. Imagine if my brother had been tested at birth they wouldn’t have had to wait a year before he got treatment that he needed.
As soon as my sister was born she 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. They couldn’t focus or pay attention and social issues and learning delays and speech delays. My dad and stepmom had more doctor visits and testing done. Routine doctor visits was the norm in my family. My father and step mom they decided to have themselves tested as well. My stepmother’s FISH test came back normal and didn’t have the deletion but turned out that my father has DiGeorge syndrome, also known as 22q11.2 deletion syndrome, a genetic disorder that is not considered rare because of it’s many names and how common research has now shown that it is comparable to being as common as Down Syndrome. Yet not many people have a clue what 22q11.2 deletion is including teachers, nurses and general emergency room doctors. Professionals with PhDs look at you with puzzled faces like you’re making up stories especially when you look normal.
My father never really looked into how to get treatment for himself or how DiGeorge 22q11.2 deletion affected him. My father also didn’t have seizures and 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 stepmom a try. I turned into the maid, the cook, and everything else my dad and stepmom were too lazy to do. I was the sibling of special needs children after all. I didn’t matter to them. I wasn’t even considered to be tested for 22q when everyone else was because I have a different mother. I didn’t show any symptoms. I was in advanced classes and appeared and interacted with my school friends just fine. I ended up moving back home with my grandma and grandfather because it was less stressful on me and I could focus on my grades.
Moving forward to when I was finally tested.
I married and met my husband we have been together since February 23, 2005. That same year my father was upset I was moving to Michigan and decided that I needed to come home to be tested because what if I had a child too.
When I was twenty-two, I went back to Toronto and got tested for DiGeorge after my stepmother and father pleaded with me to get tested. I tested positive. Shocked, frustrated, hopeless and fearful of my future, I brushed it all off as just being a carrier because it was just something my father had passed on to me.
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 at birth. When my baby brother was born then things got real for me and I could no longer avoid finding information. I kept asking: why do we all of this if it’s supposed to not be inherited? Why do I have this if it’s supposed to be a spontaneous like the experts say? I joined online support groups that only lead to more fear isolation and questions.
Then I had my daughter and a year later suddenly sadly my baby brother passed he was 6 years old.
By this time I knew my daughter had 22q deletion syndrome. I was going to do all in my power to make sure the same things don’t happen and she would get treatments and services she needs, resources tools and whatever else that comes up we would deal with and not brush aside like my own health issues where when I was growing up.
I was twenty-four when I got married and got pregnant two years later.
In 2007 Bella was born. 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 didn’t know then during my pregnancy I have gasteroparies: another rare disorder. In fact, I didn’t know I had gasteroparies until three years ago. I wonder what would have happen if I had treatment for my condition when I was a infant or even a child or even as a teen. I had to wait until adulthood to find out I had to wait until I got pregnant to show any symptoms.
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 calcium 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, Bella. Within minutes I went into shock and passed out and my daughter Bella she started to turn blue and had tremors in the hospital. When I came though 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 in hospital and I had a room full of medical students and doctors asking questions like I was a science experiment.
They tested Bella and within two days we got our results sure enough, she has 22q deletion, too.
The blue tremors are early signs of hypocalciouma. Bella 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.
Bella presents with 22q11.2 deletion syndrome DiGeorge syndrome Velocardiofacial Syndrome as stated on her genetic Fish test. Her symptoms are face, including small hooded eyes and small ears.
We also have her in speech therapy. Her articulation has improved and she also has had tubes in her ears.
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. Bella also has a mild form of cerebral palsy and wears leg braces at night and is on a muscle relaxer takes ADHD medications and is in therapy. Bella appears like the other kids in her class and is mainstream with an IEP.
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 Bella.
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. Knowledge and continued research funding is important for these reasons and so much more.
Thank you Amanda for sharing your story here. And thank you for advocating for early testing and treatment for 22q.
For more about Amanda’s journey, check out Amanda’s own blog: Mommies Quiet Place and find her on Twitter and Instagram @amandaripsam.