A post that was shared on the 22q family foundation website years ago. This blog is a continuation of that story.
I have a father, three siblings, myself and my daughter who all have 22q deletion VCFS digeorge syndrome.
Testing of not only the child but of both parents is very important in getting the help you need to take care of you and your child with 22q. Here is my story.
I’m Amanda Ripsam. I have VCFS 22q digeorge syndrome. As mentioned above, my father my three half paternal siblings as well as my 4 year old we all have 22q. I did not get diagnosed until I was 21 years old.
My brother was the first of us to get diagnosed after he had his first seizure which happen after we ate turkey one Christmas Night. He was treated for hyoocalciuma and low iron levels. He is developmentally behind and had a learning delay as well as a speech delay. My sister is more developmentally behind then my brother and she also has a speech delay hypocalciuma seizures and low iron levels. They were given reccaltrio and calcitro for the calcium issues. Sadly I lost my 6 year old brother to a seizure; he died in his sleep while having a seizure. He hemorrhaged in his brain and that caused him to die.
I am 29 years old and my birthday is Feb. 10, 1983. I was born in Toronto, Ontario Canada. I moved to Grand Rapids, Michigan when I was 21 years old. I got diagnosed at 21 in Canada because the test at the time and the treatment and such would cost around $5,000, which I didn’t have so I went back to Canada to get tested and treatment. My ear drum collapsed when I was 11 years old so they put tubes in my ears every year to help correct the issue I remember getting speech help when I was in school that was with out knowing I had 22q.
I got pregnant when I was 24. I also got married and I’m a step mom to three kids. I did have a complicated high risk pregnancy. 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 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 had developed the hypocalciuma as my daughter was pulling the calcium from me and 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 couldn’t afford the medications to treat so bed rest it was. I had a lot of embrotic fluid I started out being 135 pounds and my last weigh in for pregnancy was 198 pounds. I’m only 5’2.” You can imagine the leg pains and the back pains I had. I gave birth to a beautiful 7 pound, 5 ounce baby girl. 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 she had hypocalciuma feeding issues. We ended up having to thicken formula with rice to the consistency of honey. We did a swallow study and I couldn’t breast feed her because she would puke it up threw her nose. I did pump my milk into her formula to mix it with the formula and the rice to add more nutrients.
She has had speech delays, hypernasle is 80 percent and she has low muscle tone in her palate in her upper mouth so we have to send to a palate specialist which we are waiting for the first appointment. We also have her in speech therapy. her articulation has improved she also has had tubes in her ears. They just took them out with a paper patch and she’s doing great. she has had two cavities and gotten two fillings done. The doctor just put her on clairtion for her allergies and that’s helped with the runny noses and the dark circles under her eyes are starting to fade.
She has sever constipation issues. We have her on maralax one cap full and one teaspoon full a day. She has sleep issues so we give her melatonin at night. She is also on a b6 complex because of her irritability and behavior issues. She will be happy one minute and in a tantrum that’s uncontrollable the next. she is also in preschool 5 days a week from 9-12. she is starting physical therapy for severe leg pains. She has had a number of seizures absent and fiberal seizures. We have been told they are more behavioral disorder issues then seizures we have been refereed to a neuro physiologist which with her behavior issues its hard to deal with some days.
I know she’s had a few seizures and tremmers and we’ve been seizure free for a year. were starting to get answers and she’s just starting to get the help she needed since birth I been telling drs but they are reclucent to do anything with kids so young. So now at this point she’s off her seizure medicine and were waiting for the first neuro physiologist appointment. I would love to be seen at chop but we can’t afford two air plane tickets I’ve neven been on a plane let alone be on a plane by myself without my husband. The hospital will only pay for one child and one parent so I’m still trying to deal with figuring out how we can get her and I treated here in Michigan. I’m willing to meet up with people in Grand Rapids area and talk to anyone who has any questions as I’ve met a ton of people online who have 22q. As for me, in terms of career, I’m putting it on hold for my daughter so I can be with her full time. My husband is looking for work in the computer networking field and I did a hair stylist apprenticeship. It didn’t get my license and I am about 500 hours behind in my apprenticeship as I ended up getting sick more often then I was at work so i think for now I’m going to be the at home mommy for the next little bit.
My hobbies are playing my guitar, doing photography and photo edits and I like to meet new people and help others.