Saturday, January 11, 2014

IIsabella and I are part of the faces of 22q on the Dempster foundation website

ISABELLA

Retrun to 22q Stories

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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.

heres the sites link
 http://www.dempsterfamilyfoundation.org/living-with-22q/22q-stories/isabella
 

33 comments:

  1. WOW! I knew nothing about 22q! What a trial to face. Thank you for helping me become enlightened about this. I do not envy the trials you have to face. I hope your husband can secure a good job so you can have comfort in staying home with your daughter at this time.

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    1. i am working on a update for this story however it's going to take some time. my husband has a job and we do live in a two bedroom apartment since April. Lot's of good stuff has happen since :)

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  2. Thanks for sharing your story. More people need to know about rare disorders like 22q.

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    1. yes I agree there are a lot of other genetic disorders as well.

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  3. Thanks for sharing your story. My son is non verbal and diagnosed with autism.

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    1. Your welcome. It took my daughter for ever to talk but now she won't be quiet

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  4. I have never heard of 22q, but thank you so much for posting about it and spreading awareness.

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  5. I had never even heard about 22q, now I'm going to go google crazy.

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  6. I'd never heard of 22q before this. Thanks for sharing your story.

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  7. 22q, I never heard of this disorder but I know I will be looking into it to find out more. My prayers and thoughts are with you and your family and I hope you can get the help you need.

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  8. You are an example for do many! Thanks for educating me in 22q I didn't know about it
    Keep plowing forth

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  9. Wow, I totally had no idea on this - thank you so much for sharing.

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  10. This is the first time I have heard about 22q. Thank you for sharing this information and helping us to be more aware. I'm glad to hear you and your daughter are getting treated. And I'm very sorry about your little brother. God bless you and your family!

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  11. Wow, we share some of the same things! I was also born in 1983 and I am also 5"2. But that's besides the point. This was interesting to read about because I have never heard of 22q until I read this post.

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  12. I've never heard of 22q before! What a powerful story! Thank you for sharing!

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  13. I have never heard of 22q this is a sad story but you sound so strong! I will keep your daughter and your family in prayer!

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  14. The little boy I run for has 22q and I am learning as much as I can about it. It is hard as it encompasses so much. I hope you can find something that can help you and your daughter and thank you for sharing your experience.

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  15. I have never heard of this before. it sounds like things are getting better for you based on your reply to an earlier comment. All the best to you

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  16. Thanks for sharing this is the first time I have heard of 22q. I hope you find something to help your daughter.

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  17. Thank you for sharing I have heard nothing about 22q before reading this,sounds like you have been through alot and i wish you all the best.

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  18. Thanks for letting me know about this. I didnt know it even existed.

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  19. I had never heard of 22q prior to this post. I hope you can figured everything out and your little girls goes on to thrive!

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  20. Did not have any idea what 22q is till ,I read your post. What a family battle. I hope that you will get to enjo]y being a SAHM.

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  21. It sounds like you have had to overcome a lot of adversity in your life. Thank goodness you have the strength to get past these obstacles.

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  22. What a journey you have been traveling for both yourself and your family. I hope you're able to figure out a way to get the treatment you need! I can see why being a SAHM is a good idea right now.

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  23. I've never heard of 22q. Thank you for opening my eyes to it and sharing your story!

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  24. Hope your daughter will get the necessary treatment. My friend had a rare genetic disease and for long time he could not get even the right diagnose and support (no doctors who knew what was going on).

    Fan R @TeddyOutReady

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  25. Thanks for sharing your story Amanda. Never heard of 22q disorder before. I hope you and your daughter are successful in managing this condition. I hope you find a way to get to CHOP.

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  26. I have never heard of 22q and I really would like to thank you for sharing your story with us. I pray that you can get all of the treatment you need for your daughter and if you could please let me know how I could help in any way. Again, thank you for sharing life with us.

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  27. I hope that more awareness happens about 22Q. Thanks for sharing your story and putting a face to this condition

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  28. I am so sorry to hear of you and your family's struggles. I wish you all the best.

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  29. What strength there is in your family to endure these trials! I know nothing about this medical malady, but I do have a nephew recently born with some severe struggles of his own and I can empathize with the stress and worry about treatments and financing and just how you're going to get everything done. Best of luck to you!

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I will reply asap!!

Amanda Ripsam