serious bone deformations

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Offline Dori

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Re: serious bone deformations
« Reply #15 on: November 16, 2009, 09:09:25 PM »
Reysha,

So soon as I read your story I thought about Osteogenesis Imperfecta. Going futher into Dutch. Heeft iemand dat woord ooit in zijn mond genomen? Ik weet helemaal niet of dat wel bij jouw zaak past. Als ik jou was zou ik Leiden toch nog een kans geven. Er zitten daar hele goede doctoren. Het AMC kan ook. Het hoeft niet, ik geef alleen maar suggesties. Ik snap dat je ten einde raad bent. Zo ik ook zijn.
Ohjee, ik let niet goed op. Thank you Umair for reminding of it. I still think it must something to do with that, but I am not sure. I told her to give the Dutch docs a new chance. I dont like to see it that someone must travel more than I do to visit her doc.

Al deze ziektes kunnen de boom in. Vind je ook niet?
Dore

Re: serious bone deformations
« Reply #16 on: November 20, 2009, 08:18:28 AM »
 Thalassemia and Sickle Cell disease are two different diseases affecting the same gene but having different affects.  Thalassemia leads to an absence of adult red blood cells, whereas sickle cell disease leads to sickle shaped cells.  This distinction is vital.  Some patients actually have both thalassemia and sickle cell disease - but what you describe is probably due to sickle cell disease.  

Zaini, our highly respected, caring and knowledgeable moderator - who while caring for her thalassemic daughter spends countless hours helping others on the site - was simply pointing out that 'typically' the amount of bone deformity you describe is not characteristic of thalassemia, therefore one should do further investigation to find out what other causes can be aggravating your bone problem - along with the thalassemia.  This is important if you wish to resolve your problem.  If you have sickling in your cells, chances are you have either sickle cell anemia or both thalassemia and sickle cell anemia.  


Thank you sharmin for the very clear discription. And especially the differences.

I must share now that I do form sicklecells, known since i was 11. But no name yet.
The thalassemietest is also positive so far. 4 december they will have the exact results for the type. Can be thal Alpha and Beta!
So my story is truely for those how suffers sicklecell anemie AND thalassemie. That the outcome CAN BE painfull if your not on time with the right diagnoses.

I also wishes to contribute in this, because i KNOW how rare my outcome is.

Forgive me all for my impatience and calling out things. But i'm also al pal of yours all, sharing a very new thing (for me and all of medical world). Please try to be in my shoes and think how serious difficult is also is for me to fight for this serious damage caused by sicklecel AND thal (a of b).

I will keep this updated as soon as i have the result. So we can talk true options and support and sharing experiances.

With love Reyha
« Last Edit: November 20, 2009, 08:31:24 AM by Reyha »

Re: serious bone deformations
« Reply #17 on: November 27, 2009, 08:19:40 PM »
hi here,

the results are there. I have NOT any form of sicklecells. I do have weird looking cells, but no sickles. Heterozygote Thalassemie B. My doctor will do an extra bloodtest for ensurence in my organs, but she doesn't take the diagnoses for serieus troubles at all. Thank god i have to go to Belgium, dec 2th, so i will ask his advice what to do. Well, at least i got permission to continue surgery on the second shoulder. Nothing else came up with this tests as any cause (electroforeses etc.), so unfortunatly until now, i must conclude that the thal is the cause of also the bone trouble. Any posted a link somewhere http://emedicine.medscape.com/article/959122-overview and i red that it indeed can be the cause of also the boneproblems.

Let belgium and i faith for any solution or treatment, because the Netherlands seems not to care ... again. Even now we know the real thing. So it will be a very difficult fight to make it official and even seeing an internist wasn't any option to her opinion. She only agree on the bloodtest for possible liverproblems to ensure me, not because she thinks anything could be wrong. Very very hard to work with a doctor how isn't willing to read things about it.

Good luck here, i will have my own battle from here.

  

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Offline Dori

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Re: serious bone deformations
« Reply #18 on: December 27, 2009, 02:02:32 PM »
Hi,
I am sorry you still dont have real answers. Do understand they know only so little yet. Good lukc with your surgeries. You will hear from me soon

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Offline Gabri

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Re: serious bone deformations
« Reply #19 on: December 27, 2009, 04:29:40 PM »
Hi Reyha,

when I read your story it reminds me to the story I was told a few month ago. A doc. told me about a jung boy affected by Sicklecell anemia (HB S). He was in hospital because of very strong pain in his bones. Sometimes it was  so painful, that he screamed loud. Everyone thought he would exaggerate, so he was ignored from nurses and doctors. Once a doctor heard him screaming loudly and she asked a nurse who woud scream this way and why. Then she was told to ignore him. No one knowed, that HB S cause very painful bone problems and this people need strong painkillers.

How did your doctor find out, that you don't have HB S, did he made and DNS exam.  Don't you have experts in Netherlands?
God bless you

 

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