The story of how we found out we have 22q11.2 deletion syndrome
The Ripsam Family
This is a copy of what I shared with the 22q family foundation I hope you enjoy reading about how our family discovered there was more then just one of us with 22q.
We are happy to present the story of Amanda Ripsam and the Ripsam Family. Amanda has been an active and helpful member of the 22q community, and has been updating her ongoing story with 22q on her blog, Mommie's Quiet Place. In this All in the Family, Amanda gives us a look at her family and their journey with 22q.
My family is unique when it comes to having 22q. First, my half paternal brother was diagnosed after he had a seizure one year after eating turkey at Christmas dinner. His seizures were caused by hypocalcemia (where the child turns blue and tremors when having low levels of calcium in the blood). When I was younger I had seizures and no one knew why, but I outgrew my seizures as I got older. My half-sister was born at the SickKids Hospital in Toronto and they diagnosed her with 22q. Then the doctors tested my father and he was positive for 22q as well. My father tested positive and step mother tested negative. My father and stepmother had another child and he had been tested/diagnosed with 22q at birth due to family history. Sadly at age 6 years old he passed way from a hemorrhage in his brain.
I was 21 when I was diagnosed. I met my husband at that time and began to wonder what happens if I too was to have a child. Considering my father passed 22q on to my siblings, my step mom suggested I get tested before I decided if I wanted to create my own family. I was tested positive at 21 and created my own family at 24 years old. I tested positive for DiGeorge/Velocardiofacial/22q11.2 deletion syndrome. That is what my Fish test stated. I gave birth to my daughter when I was 24 knowing the risks. I refused amniocentesis and had her tested after she was born. My daughter Bella was diagnosed at 3 days old. I told the midwife that my daughter needed to be tested for 22q and treated for hypocalcemia. Sure enough at day 2 she started to turn blue and had tremors, so I started Bella on calcitriol treatment. On top of 22q, my daughter also has a mild form of cerebral palsy. It is helpful knowing that we all have 22q and it affects us all differently. My siblings and my daughter were able to get treated, but I was not able to get treated as there isn’t much information on how it affects adults like myself.
Bella is mainstreamed with an IEP and is now advocating for herself at 9 years old. Bella feels she is ready and able to do the work like the rest of her class but with some modifications. Bella is in 3rd grade and attends public school. Bella being 9 years old looks and lives like any other child her age. She loves riding her bike and has friends at school. Bella is going to start Girls on the Run this spring as she loves to run. Bella is really starting to be her own person. It is hard to pick just one accomplishment she's had over others because she amazes me every day and I am proud to be her mom.
I have met amazing parents [in the 22q community] that my husband and I have had the chance to mentor. I have also met teens, young adults and adults who are older that have offered how they manage their health related issues as well as the challenges they face.