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[Reyha]

hi,

I do read questions about fear of bonedeformations, but nowhere i read about people suffering this outcome of thalassemie, so hopefully my story can add something to this topic.

i'm familiar with skeletproblems since i was 2 years old. My hands where x-rayed every year to see how i growht because i was already very little in length.

When i was 11 i came home one night after a party with heavy pains and cried my eyes out. My mum decided that i needed be x-rayed. The picts than showed serious deformation in both hipjoints. The doctors than thought it was late kind of Perthes-disease. Both hipjoints were corrected in stand to prevend worse damage. For any kind of replacement i was too young. In that time i suffered serious anemia and bloodtransfusion was given. To bad for me, my body reacted horrible and after tests my blood makes anti-things against donorblood and the form of red cells were strange, so the treatment stopt and wonderwell, my hb rose to 8.0 for the next surgery. We were adviced to go to Leiden, but google didn't exists those days so nobody thought of a blooddisease.

When i was 16 my knees hurts. 1 arthoscopie later, my cartilage in my knees seemed more than soft, but still hole. When i became 20 the pain was horrible and again i went back for another arthoscopie. This time the cartilage was seriously damaged, BUT jointreplacements in NL is after you become 50, so i was way too young for any kind of replacements.

On my 20th, my health went down like hell and i ended up in a wheelchair. Althought doctors thought it wasn't needed, i fighted for this thing. Thank god for me, the society found me fysically handicapt enough for education in a rehabillitycentre. There they helpt me with other recourses to stay independent (i live alone in an appartment).

In that time, my hands didn't work as they should. Numness and they where thinking of hernia. My spine was checkt out and they told me i had something as Scheuermanndisease and a few hernia´s indeed. But again, i was too young for surgery. It was in 2000. Still nothing said about any blooddisease.

In 2002 i found an arts who would replace my hipjoints, because of the damage. After a long long time (i had to wait for it for 9 months). He was the only doctor in the netherlands, willing to operate me. Because i knew i can´t process donorblood, the surgery was done with care. The second surgery was a true drama. My HB dropped till 4.1 and the treatment was: Irontablets. Crazy enough i did seemed better, so still nobody thought it could be something else.

In 2005, my numness was horrible, my leftside was as lame as it could be. Back to the neurologe. Yes, the same hernia (2000) was still there, not even smaller at all and still she wouldn't operate me. After 10 months of suffering i called desperately the insurenscompany and they sended me to belgium for surgery. In less than 3 days i got my surgery and 5 days later my nummness was gone at the left part of the body, but still the right part of my body was still lightly num. The neurologe told me it was thalassemie, but she refused to send me tru a specialist. YES, a bloodtest was prescripted, but i was afraid and forgot all about it. The belgium doctor adviced me to check my shoulderjoints, because he was already convinced that thalassemie was the cause of the hipjoints and the next problemeareas are back and shoulders and knees.

Too bad for me, my financial supervisor found me a hypochondric and she forbid me to see a doctor. After 1 1/2 years my finances where such a mess and i was so mad about the fact that i didn't get permission to see a doctor that i went to court and i got to fire her (nov 2008). In december i went inmediatly to a Reuma doctor (i was convinced that i had reuma artrose).

My shoulders showed enormous cystes in my sockets and clearly you could see on the x-ray that the bone-ends where damaged as well. After many research i was told that i had to wait till i was 50 AGAIN, before they would surgery.

This time i wouldn't wait again for a year so i called insurencecompany again. And again i was send to belgium. This doctor freakt out when he saw my picts and heared that dutch doctors refused to operate. 1 october my leftshoulder is with urgency replaced, because the cystes are close to the service and if it breaks, it will be smashed tot pieces. Try to fix that!!

The doctor asked me what labels others had stampt on me. So i said: Perthes, Scheuermann, artroses, astma and something with blood, thalassemie. This doctor had asked around and he told me that all diseases so far where the thalassemie all the time. He adviced me to test the type, and so i did...

I'm waiting for 3 more surgeries (rightshoulder and both knees to replace) and i wait for the result on the type, but in my case, i'm completely damaged in bones by thalassemie. Not knowing what more damage is done.

Still 10 days to go for the results and during that waiting i'm in a crisis, but doctors won't take me in for oxigen and waterinfuus and painkillers because i can't tell what type i have. (where the f* are protocols for?? Do we have protocols at all... answer: NO, NL has no protocol at all, so i was send away, like i'm crazy and stupid)

Yes, i'm very afraid. This thalassemie has eaten and deform my bones and longs. If it is already that bad, what more damage is done? and how long will i live? bloodtransfusions are no option and direct relatives are not available. Will i survive the surgeries?  

For anyone who has serious deformed skeletbones, i can really say now: test on thalassemie, it looks like reuma, it feels like reuma, but it's worse, it's Thalassemie.

I hope that my story helps to determine Thalassemie, instead of all kinds of diseases diagnosed and not being taken serious as i was treaten here. That thalassemie CAN show other signs than just the usual things i red about.

With lots of strength for those who has to fight,

Reyha

[Zaini]

Hi Reyha,

Welcome on the forum Your story is quite complicated,i haven't ever seen that severe damage to bones in thalassemia,and since you are 30 and not on regular transfusions,you are clearly not a thal major,my guess would that you are an intermedia,considering your hb level and everything.

As for the antibodies in your blood,i think that there are medicines available which can eliminate these antibodies,partially if not completely,and with strictly genotype matched blood,you can get transfused after having the treatment for anti bodies,still i am not a hemotologist,a hemo would be able to tell you more about it.

Regarding your bone problems,was osteoporosis ever considered? Because i don't think thalassemia alone can cause such damage to bones,after reading both of your posts i am convinced that there is something other then thalassemia which is undiagnosed,thalassemia could be the contributing factor,but thalassemia alone can do that,its hard for me to swallow.

You also mentioned sickle cell in your other post,do you have sickle cell anemia too?

And something you mentioned about "low age death" which i really don't understand,because gone are the days when thals were considered to be living only upto their teenage,now the scenario is completely changed,now a days,if thalassemia is well treated,thals can live a long full life,our members here know people who have thal major and they are in their 50s and are grandparents,we have a member Lena,who is 48 and Mashallah as healthy as any one can be.So thalassemia is a manageable disorder now.

I am sorry for your pain and i can only imagine how hard it must be to go through all this at such a young age,we do have a member from Netherlands,her name is Dore,she doesn't have Thalassemia but another rare anemia called PKD,but the treatment is almost the same as thalassemia,she might be able to help you about the doctors.

And wait for Andy,our administrator,he might be able to guide you more,

Take care,

Zaini.

[nice friend]

Reyha,
  ,...
i agree to wat Zaini has said ... its not Thalassemia alone.. plz check for bone diseases  like Osteoprosis and other bone diseases ...  please check the link , may it will help u ... or mayb not ...

anyways ...

Best Regards
Take Care
Umair

[Reyha]

hi,

according to my belgium doctor it surely must be a serious sicklecell disorder. Because the boneproblems he seems sure of Thal B major. That the cells are forming to sickles, doesn't mean i have extreme low hb. Sicklecells itself are damaging the ends of the microvasculair system and with that it necrotising the end of the bones (and other tissue, like brains, liver etc). Ask the doctor yourself ;)

That is what i was told so far. So please waite for the results before you conclude maybe something you don't have knowledge about in this specific way. If it is as mild as you asuming, than the damage wouldn't be so nasty ( i think). That is what the doctor said. So if it's intermediar or major, the outcome already is heavy enough, so let's waite for some testresults first. So far.
greetz  

[Andy]

I agree that testing and determining what your status is, is the only way to determine what the course of treatment should be. Have bisphosphonate drugs been considered to help restore the bone?

[Reyha]

You also mentioned sickle cell in your other post,do you have sickle cell anemia too?

Thalassemia IS a type of sicklecellanemie ;)
see for yourself @ http://en.wikipedia.org/wiki/Sickle-cell_anemia

[Andy]

Beta thalassemia and sickle cell disease are both caused by mutations of the beta globin gene, but they are two different conditions with different symptoms. When both the beta trait and sickle cell trait are present, it is a condition know as beta thalassemia sickle cell and it often has the symptoms of sickle cell disease. A hemoglobin electrophoresis will give you a better idea of what you do have.

[Reyha]

thanks for the corrections and judgements in this. Here in the Netherlands they use the word Sikkelcelziekte (sicklecelldisease) as a generic term for people who suffers from any kind of genetic sicklecellforming diseases. In english i saw the term anemie. So i considered that disease and anemie where the same. Stupid stupid me, i should have known that my knowledge of 3 weeks wasn't enough.

But isn't it true that thalassemia also is responsible of forming sickles? Those sickles are in my case the bad things. i don't mind what the true name shall be, as long as they choose the right treatment this time.

Any other bonedisease is excluded already btw. And since i'm 11 and during the years after the laborantes had seen "strange forms of red cells" but the never knew what is was called and nobody considered them as harmfull. Untill they didn't know for sure, i will keep guessing, i think.

a very annoying offensive thing i can't coop with, i'm sorry
And yes, quotes like -("Because i don't think thalassemia alone can cause such damage to bones,after reading both of your posts i am convinced that there is something other then thalassemia which is undiagnosed,thalassemia could be the contributing factor,but thalassemia alone can do that,its hard for me to swallow.")- this makes me feel like a crazy freak and a liar, which i'm certainly not. Because i can't tell the exact type, does not mean that it isn't true!!! So swallow that, because it IS the exact reason for my bone deformations. You must have ment it probably with all of your best interests of heart, but i hurted me in the bones. I do not lie!!!

So i'm sorry to post here without knowing the type. And especially i feel sorry for myself, thinkin that i could have some supportfeelings from here (because in reallife people think i'm crazy already). So thanks for the stupid judgments already and succes for all the persons who have normal showings signs of thalassemia. And more succes for the people like me, fighting stupid judgements like this.


 

[Dori]

Rehya,

You talk in mmol/l isn't it? I am too from the Netherlands. We had at Saturday the yearly Symposium from Oscar Nederland. You could have ask your question's there, because there were good docs. (www.oscarnederland.nl)
This means I could also start talking in Dutch, isn't it?

I havent read all, but it was said during the Symposium that thal+sickle cell=sickle cell. I think you have both genes, is that possible in your genes?

Belgium doctor? Many members talk about an excellent doctor in Leiden. Maybe you can ask a second opinion?

And have you ever heard of Osteogenesis Imperfecta? It does sound a little like that - according to me.

Groetjes, Dore

[nice friend]

hi ,
 i just googled the diseas name , that dore has mentioned in her post and dame across this http://en.wikipedia.org/wiki/Osteogenesis_imperfecta .. and yeh its symptoms does sound's like you mentioned , Reyha ...

Best Regards
Umair


@ Dore
good guess , Dore ....

[Zaini]

Hi,

We are not here to judge anyone,it was just my opinion,you did made this post to get people's opinion,didn't you ?

Sorry anyway,

Zaini.

[Andy]

Reyha,

If someone provides information, why would you think that is calling you a liar? People are trying to help you and these people have quite a bit of information about thalassemia. Please realize that anyone who answers you here is trying to help.

If you have the results of a hemoglobin electrophoresis test, that would help sort this out. An electrophoresis would reveal both sickle and thalassemia traits if they are present. The first step to treatment is proper diagnosis.

[Dori]

Even via deze weg. ik heb je mail ontvangen. Goed dat je me een mail hebt gestuurd. Ik heb alleen geen tijd om te antwoorden.
Exjade is killing me. (very nausea and sore stomach again). I increased the dosage. It totally messed up my schedule. Je kent het mss wel; niet kunnen slapen en dan als je om 9uur wakker wordt het idee hebben dan je helemaal niet hebt geslapen. Kortom zodra ik tijd heb, komt die email eraan.

[Sharmin]

Reyha,

Welcome to the board, we are happy to help anyone in need here.  Many of us are dealing with thalassemia ourselves (or we have a loved one who has thalassemia).  We spend countless hours learning about the disorder to help our loved ones, and we also work hard to welcome everyone here so that we can help them. 

When a question is posed we use our knowledge, experience and a lot of research to provide the best guidance possible.  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. 

None of us came to this site knowing everything, we came here to learn.  Before learning all that we have here, we had many misunderstandings and misconceptions.  When we posted our ideas and concerns - we corrected each other and now we have all become more knowledgeable.  When someone corrects me here - I am better equipped to deal with what concerns me.  I do not accuse the person who trying to help me understand - of calling me a liar.  I thank them for helping me understand.  Zaini was doing her job by telling you what is typical of thalassemia and what needs other investigation. 

I hope that we can give each other the benefit of the doubt before making such comments.  If you are willing to take a look at what was actually meant, rather than what you assumed we are willing to guide you further.  Otherwise, good luck in getting the proper attention for your health concerns. 

Good day,

Sharmin

[Lena]

My thoughts exactly!


Lena.