hello out there ...

hello everyone, 
im a new member TODAY !!!
i was wondering if there is anyone on here with CDA  or blackfan diamonds ?
I would love to talk to anyone with these diseases/conditions
or anyone with Thai .
Im new to this and a little unsure how to ask questions or get in contact with ppl.
Thankyou 

x

Hey,

I know a few people with blackfan diamands. Can you refresh my brain a bit about cda?
I got pk def. = pyruvate kinase deficiency. That's also a pretty rare disease;)

Where are you from? I am from the Netherlands.

Don't feel shy; this site and people are awesome!

Hi Rouge,

Welcome on the forum do tell us more about your problem,and if you have any questions regarding chelation or transfusion,feel free to ask.

Zaini.

Welcome Rouge

manal

 

Hey Dore,

Check these.

http://en.wikipedia.org/wiki/Diamond-Blackfan_anemia

http://www.orpha.net/data/patho/Pro/en/DyserythropoieticAnemiaCongenital-FRenPro3565.

Zaini.

The 2nd link doesn't work. I cant search for it. This is my mother's pc. I got my own and it's out of order.

Check this one ,

http://wrongdiagnosis.com/medical/type_i_congenital_dyserythropoietic_anemia.htm

Zaini.

hello , thankyou  Zaini,  Peartree Girl, Manal for all messaging me and welcoming me to this site.
  Made my day

hello ,

ah yes many of my friends  have your condition, they are treated at the Alfred Hospital ( in Melbourne Aus),
i will copy and paste alittle of my story to help you understand what cda is...but overall is a very rare blood disease , i and my doctors know of 5 or 6 cases worldwide at the moment, im sure there might be more ,, but they do not survive the full pregnancy or birth.

Hello there,  ( written a few days ago)
i have just joined this website today  , so im a little unsure of how it works of how i can get in contact with people who have my condition ( i don't like to use the word "disease" personally)

I am 22 years old , living in beautiful Australia , and have CDA ( Congenital Dyserythropoietic Anemia ).
I was diagnosed , after  i was born in 1986, when i was clearly not well... "normal" again i dont like to use this language. i was ... not "well" lets just say.  it took many month of testing , and research to find out what i had exactly , as there no no records of CDA at the time.
I have been transfusion dependent from the first day i was born.
I had a bone marrow transplant  when i was 5 , but it didn't work I
ts hard  for me to remember all my operation times, dates etc , as my memory is not what it used to be.

In or around 2000 i  had my gall bladder removed.
In 2002 i had my appendice removed.
In 2004 i had my first myocardial infarction (heart attack) , then was in a coma for 4/5 weeks or so.
My hematologists and cardiologists put me on the Heart transplant list.
I have extensive iron overload , most of my internal organs  ( kidneys , liver ) failed.
I was in rehab for 6 months of so
I went from a healthy  size 10 weighing around 57kg to an emaciated 35 kg ( i am 5'5)
My ferretin level was extremely high, a level of  4000!! (normal range in around 100 )
I was on Desferal 24/7 durring my coma which brought my ferretin level down to 1000.* however , this dose not correspond to how much iron i had/have in my organs.
I learned to walk again, stand again, go to the toilet and all that jazz

I have been on Desferal  since i was a baby and just recently came on to Exjade ( oral form) , which has saved me from being on cortisone  to help with the awful heamatomers and edemas the Desferal left me with, all over my body.

My Doctors at the Alfred Hospital in Melbourne have been coresponding with a Professor in Germany , discussing weather or not i should now have my splean out .
They say it might hopefully bring my Hb up a point (10) higher.
My current Hb sits around 6-7 on a good month.
I now have One to two blood bags every 3 weeks over 4 hours each due to my cardiac history.

I was wondering if anyone could please give me some information , or better yet tell me about your experience having had a splenectomy. And offer your thoughts on wether i should go down this path.
I am currently thinking well, if it only brings my Hb up too 8 why bother!! , however it might eleviate the regularity of having to have a blood transfusion so often, and thus decrease my ferretin level and chance of iron overload again.
But what of the risks ? Like if i want to travel , can I  go to asia? places like cambodia ? what of all the defense the spleen undertakes, will i get sick more often

Thankyou for taking the time in reading a bit about me
I would love it very much for anyone to give me some constructive feedback on my question
I am happy to answer any questions if there are any parent out there , with a child with CDA as i know it is very scary and very lonely if you have no one to talk to about your son/daughters condition.


just recently there have been some websites made for CDA , im trying to find them at the moment, most of the websites , do not give correct information about what CDA is , for instance .. yes our redblood cells are made and they are normal looking etc , but they break down suddenly. I know of type 2, and 4 and there are ppl such as myself who have there own type classified by just our name .

i am still learning everyday about my condition , and being on this site helps me hopefully to get in contact with other ppl with rare conditions that have had similar experiences and a  even info on there speenectomy, and who might even have my condition.


thankyou
 

yes our redblood cells are made and they are normal looking etc , but they break down suddenly.

Why do they break down suddenly?

Later this week I'll try to send you a private message back. Now I know how it works 

Btw, I think I found that professor in Germany while searching for your disease.

I've had my spleen out at the age of not even 3. It didn't help, but I really believe it was worth the risk. If it helps, it really helps.  I hope in someway you can get your ferritin at a perfect level and that your organs will feeling better.
What's your dose of Exjade? Mine is currently 1000, but I hope to reach the 2000mg in April.

Take care, Dore
p.s. What's your transfusion scheme? How many weeks are between them?

ah thats what you meant , lol
not sure why .
ah cool do you know his name ?
my ferritin level is below normal range now ( below 100) so they have stopped all chelation for the moment. my exjade dose was above recommended levels. it was 10 large tablets daily. however my doctors believe that desferel is better and stronger and i do too. when i was in my coma i was on desferal 24/7 or over 4 month to get my ferrin level from 4000 ( extremely dangerously high) to around 200 .

i have 1 to 2 bags of blood, which must be lukesite depleated , erradiated, cmv negative , o negative , over 4-5 hours each bag, due to my thousands of treatments and cardiac history ( heart failure, liver failure, kidney failure , etc)

what is your ferritin level ?

Hi Rogue

Is it because you have an enlarged spleen that your doctors want you to have a splenectomy?

Jade

Hello Jade
i luv your name btw,
my spleen and all my other internal organs are enlarged , but thats not the reason they want to take it out , they believe that it might lengthen the time between my blood transfusions. and to increase my HB ( one point so from say 70 to 80  ( 7 to 8 HB)

DO you have CDA ?!!!

hAVE YOU HAD your spleen out ?

thankyou for your post
Lillie

Quote:
i luv your name btw,

  . Thanks

I neither have CDA nor had my spleen out.  I most probably have Bthal Minor.

I want to ask you something: did you have all these problems because of non-compliance to chelation or despite having chelated ?

You have gone through a lot.

 Take care.

Jade

not sure what u meant by

Quote: did you have all these problems because of non-compliance to chelation or despite having chelated ?


i have always had CDA you can not catch it , it is "from birth " (congenital )

i have hard all my problems because my condition is extremely rare, and i think the people at a certain hospital i went to before the Alfred over  transfused me to often and with WAYYYYY to much blood , for example : age 12 , weighing around 47kg , hb of 8 ish getting 5 bags of blood every three weeks . i am now 22 years old weight : 55 kg ( 5'5 or 164 cm) getting 1-2 bags over 3 hours each every three weeks,
 as in hind site , they over transfused me to much to fast since i was a baby , its amazing i didnt sue them, for nearly killing me.

i have always been chelated on a high dose since diagnosed.

thankyou
lillie