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For Amanda

Wednesday, October 1, 2008

Gillespie syndrome?

Yesterday I posted to groups I am on about the newest scare we have with Amanda, my heartfelt thanks to those who responded.

I have to tell you I am scared for Amanda, I am trying not to borrow trouble, but Aniridia can be life threatening for her. Since she is so thin and fights to gain weight, the possibility that there is something wrong is high. Cancer takes life-giving nutrients and takes it in, but does not allow them to keep the "host" body strong. Amanda eats a lot; she eats as much as Kara, who is getting overweight. Her thyroid is within normal limits, so it is not that.

We have many doctors to see still, GI, ENT, a nephrologist, and a geneticist. Every medical professional who has seen Amanda has asked if there was something else going on with her other than Down syndrome, and of course we won't know until she sees every doctor she needs to see.

I have been reading about Aniridia, and it is possible that Amanda could have Gillespie Syndrome, which is quite rare, but she does not have complete Aniridia, but partial.
http://www.socialstyrelsen.se/en/rarediseases/Gillespie+syndrome.htm This of course would be a better case scenario for her. Her risk of renal cancer would be no higher than any other child's.

Since most cases are in Sweden, and since Amanda is from Estonia, not that far away, the possibility is there. I wrote an organization in Sweden for more information, yes, I know, perhaps jumping the gun? I am relentless when it comes to finding answers, I think I should have been a detective.... Yes, Amanda having Gillespie Symdrome is all supposition, but when either I am facing a health issue, personally or in someone that I love; my first response is to learn about it, and that is what I am doing now.


traceylynndel said...

You are right to find out all you can. Better to know too much about something you don't need than find out you don't know enough. It also enables you to ask the doctor intelligent questions once you do find exactly what she has. I'll continue praying for sweet Amanda and her family too.

Jules said...

I'm praying hard that all is okay!!


carol said...

Kris, I am so glad that you have the access to the internet so you can search. Amanda is very lucky to have a mom that is such a good medical detective. I hope you find all of the information you need. Good luck Kris. I wish there were more people like you out there that take the time to find answers to their problems. We cant always leave it up to our Drs. as the dont always have the time or energy it takes in finding all of the information needed.GOOD LUCK
carol n

Christina said...


I can relate to the frustration you are going through. It reminds me of our experiences with our son. It seemed like every time we saw another specialist, they found something else wrong! I started to feel like there was some form they were trying to "check" every box on! It never fails, whenever I hear the words "odd are your son does not have this/that", from a physician, I know to get ready, prepare, and reasearch because "odd are" he WILL end up with it. I know it can be frustrating, but you are being a great mommy to Amanda, and doing the right thing to reasearch and be prepared. I will be praying for you and your sweet baby girl!

Christina S.
P.S. I love the pic of Amanda at the top of your blog -- is that a new one?

amyl4 said...

I know you must be so worried for your little Amanda. I will be praying for her and you. Please keep us updated.

WheresMyAngels said...

Never heard of this. Also has she been tested for celiac's, that could cause weight issues. Mercede was always a very thin child. Her heart was part of the problem but she also has a very high metabolism because she eats more than all my kids.

Prayers that you get some answers.

GoldenAngelsWorks said...

Praying for you all right now.
Praying that the least problems is what she will end in.

Anonymous said...

Kris, your family is always in our prayers. Amanda is such a precious Angel and has so much to teach the world. We are praying that her problems are not life-threatening and that God cradles you all as Amanda goes through these tough times. Blessings, deanie and the boys

Alice said...

I'm so sorry you have to deal with more worry and frustration! Wednesday and Thursday are my work days, so it is hard for me to get to the computer. Last night I went to the new adoption support group at our church and only looked at Andres' pictures before shutting down the computer for the night.
Poor baby! And poor Mama! I'm praying hard for your sweet girl. Praying for quick answers and less fear for you.

Valda said...

I don't think you are jumping the gun at all! I think you are doing the right thing as far as trying to find out all you can about anything that could be wrong. Prayers continuing for Amanda and all of you!

Shea said...

I have never heard of this before. I hate that you are having to deal with this and I feel for sweet Amanda.

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