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I Have Congenital Dyserythropoietic Anemia (cda)

 Hello there,

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 when 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.

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 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.

 

I look foward to hearing from you

 

 

 

 

 

 

 

rogue22 rogue22 22-25 6 Responses Dec 20, 2008

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hi i also have CDA type 1. i was diagnosed with it at 11months old. and have been having transfusions ever since and im 20 now. <br />
i had my spleen removed when i was 6 and as a result have been on penicillin ever since. <br />
i started of on desforal and then switched to exjade but that doesnt seem to be working forr me so im on a combernation of both exjade and desfarol. i have high overloading of iron in my liver and kidneys. my feritin is around 5000 and my hb between 7-8. i also suffer from osteoporosis<br />
i have never known anyone else with this condition and sometimes it can leave you feeling so down and alone. <br />
vicky :)

Hi. I am the mother of an 11 year old girl with CDA type 1. we have yet to meet or speak with anyone else who has it so I was thrilled to come across this site during a web search. <br />
my daughter has had it since birth but wasn't diagnosed until 10 months old by bone marrow biopsy. she was transfusion dependent for several years but has been fairly stable (hgb usually stays in the 9's with an occassional 10- woohoo- every now and then) and has not needed a transfusion in a long time. her serum ferritin is close to 1000 now so we will be starting chelation soon. we will be going for a ferriscan in 2-3 weeks- still waiting on exact date as we have to travel to do this test and it is requiring alot of coordination with them and our doctors here. we decided to not have her spleen out yet because she would have to go on antibiotics long term plus she already has a pretty bad immune system (has had a few rounds of IVIG therapy). her main issue now is joint pain. she is also lagging behind her friends as far as puberty goes but who knows if that is the iron/ cda or just a late bloomer thing? Regarding chelation, they are not sure whether she will qualify for exjade because of her high creatinine levels or if she will have to do iv desferal. from your desc<x>ription of your experience- hopefully we can start with exjade.I appreciate your openness as I know of no one else going through this. I hope you feel better and will send good thoughts your way.

Hi, i am the mother of a 16 year boy who was diagnosed with CDA at birth. we have been very lucky that he has had no symptoms and no transfusions. We visit the Westmeads Children's hospital every year for check ups and his blood count is always low but as he is healthy we have not needed any further treatments. The one thing that CDA has caused is the slowing down of puberty and growth but I'm reasurred that this will soon occur- so would like to know if this has happened to any other person with CDA and if anyone lives in Sydney as I would love to talk to you.

Hi..my 17 yr old grandson was just diagnosed with cda. He was misdiagnosed as an infant. All these years they were treating him for sphere cytosis. Recently his blood work had them wondering if it wasn't something else. They did a bone marrow test and came up with cda. He had his spleen taken out when he was 2 and that stopped the transfusions. He has not had all the terrible symptoms you have had. He can't exert himself or he gets sick to his stomach. We are so grateful he has survived this long.

http://www.orpha.net/data/patho/Pro/en/DyserythropoieticAnemiaCongenital-FRenPro3565.pdf<br />
<br />
<br />
this is a good site for anyone wishing to know more about this very rare disease

PLEASE SHARE YOUR COMMENT WITH ME , I'D LOVE TO HEAR FROM ANY ONE WHO HAS CDA OR HAS HAD THERE SPLEEN OUT <br />
THANKYOU