To transplant or not to transplant, that is the question.

I think this is a good topic not just for me, but for other people who find themselves in this situation later on in life.  I am currently 25, and I am contemplating a transplant now after I started having some liver and heart problems.  I am finding it increasingly difficult to decide whether or not a transplant is a good option for me or not, because I am afraid of what will happen if I don't and I continue on this regimen of transfusions and chelation.  On the other hand, I went to see a bone marrow specialist in Chicago and he told me that I have more to fear about the transplant than the disease itself.

While I am not exactly a thal patient, I have something very similar.  It is called Congenital Dyserythropoietic Anemia Type II, and there are a few hundred of us out there in the world.  It is essetially very close to thalassemia though, and the treatments are one and the same.  However because my diagnosis is more rare, doctors treated me more like a thal intermedia when I was younger, and now, because of the recent problems I've been having, I am being treated more like a thal major.

I have asked my extended family to get tested for me, since my sisters do not match me, and while I have not found a match in my extended family nor in the community at large, I did find one in the National Marrow Donor Program.  I haven't started the whole process yet though because my iron is still high (I am considered a class III), and I am waiting for the Exjade to lower my iron before giving the go ahead.  Doctors have even recommended starting Desferal 24/7 if I am seriously considering a transplant, although I haven't started yet.  However, I'm not entirely convinced that a transplant will work, and I know about all the complications involved if it doesn't.

I have seen a second bone marrow specialist who recommended that I get the transplant done because it offers hope, while continuing on this path does not.  He quoted an 85% chance of success, while the doctor in Chicago quoted a 70% chance.  It is particularly hard to decide what to do when the doctors themselves are not in agreement.

I was told by family that I should look into what life is like for people who haven't gone through the transplant, and do the same for those people who chose to go through it at a later age.  So if there is anyone on this site in either situation, I would appreciate your feedback.

BTW - I have heard that mini transplants increase the probablity of success (which I think is what Andy was referring to in one post), although they would not use that procedure for me.  Also, I think the idea about the Oprah show is a great one, and I hope that you are able to go through with it.  While I live in Chicago, I'm not sure I can be much help with that.

Dear dlevy

I really don't have any information to help you decide, but all i can say is that i wish you can reach a decision that is best for you. I know that it is very confusing, but my advice to you is to keep asking specialists of transplants before you decide your final decision. I think your self intiuation will guide you .
Please keep us updated
Good Luck

Manal

Hi David,

Since Congenital Dyserythropoietic Anemia does not affect a large number of people (at least that is what is currently believed. This analysis may change as there is now a standard testing procedure, and as doctors become more aware of the condition, previously hard to diagnose anemias may be found to actually be Congenital Dyserythropoietic Anemia), there is not a lot of information available about it. However from what I have read I do have a question. Have you had a splenectomy? It is the most common treatment to try to eliminate transfusion dependence.

It is uncommon for Congenital Dyserythropoietic Anemia Type II to be severe enough to consider a bone marrow transplant. The case often quoted where BMT was used also involved the co-existence of the beta thal gene. The case is cited at
http://www.nature.com/bmt/journal/v27/n2/full/1702764a.html

In this case the patient was cured after the BMT. The doctors also gave some advice that should be closely reviewed by any doctors performing a BMT for CDA.

Since we were worried about the iron accumulated before transplantation in patient II-2, we decided to use fludarabine instead of cyclophosphamide in the preparative regimen. In fact, fludarabine displays a potent immunosuppressive effect and has been used successfully in allogeneic transplantation of haematopoietic stem cells...Terenzi and colleagues have documented that fludarabine can replace cyclophosphamide in pre-transplant conditioning therapy. Moreover, previous studies have shown that fludarabine-based preparative regimens are well tolerated, have limited extra-medullary toxicity and are currently used in patients who are not eligible for conventional myeloablative conditioning because of advanced age and/or poor performance status.

I question whether BMT is the right choice at this point. The heart and liver problems most likely are related to high iron concentrations in your organs and might be alleviated by intensive chelation. It is often found that even without transfusion, CDA patients often suffer from iron overload, so maintaining a higher Hb may be a better strategy as the patient will feel better and the iron overload may occur even without transfusion. If you have not had heart or liver scans, such as the SQUID test or Ferriscan, you should to determine the levels of iron in both organs. Once again I wish you had access to deferiprone (L1) as a chelator, as it has a demonstrated superiority to desferal at removing iron from the heart. I would definitely recommend trying the chelation path before deciding on a BMT. And even if a BMT is eventually decided on, lower iron levels will give you a higher chance of success.

Thank you both for the advice.  It is much appreciated   To answer your question Andy, I did have a splenectomy done in 1993 (when I was only 12), and it helped some ... but did not alleviate my transfusion dependence.  Beforehand, my hemoglobin would run somewhere in the range of 6.5-7.0, and aftwards I could maintain hemoglobin counts of about 7.0, and a hematocrit of about 18.0.  They would transfuse me once every few months, when I got to this point ... but it seems now, in retrospect, that they may have waited too long before transfusing, since blood only lasts 30 days in the system.  In addition, I had completely stopped chelation for a period of about 7-8 years, because my doctors were following my ferritin counts, and while it decreased to the hundreds, they were waiting till it reached 2000 before starting again.  I later learned (years later) that ferritin counts do not accurately reflect how much iron is being stored in the organs.  Too bad the doctors at the time didn't know this either

My son was diagnosed with CDA II at age 2, in 2001. He, like several others we know of now, had a severe case, and rapidly became transfusion dependent.  His only sibling was a perfect HLA match, and so we underwent BMT four years ago.  My son is doing well today, but I would be very careful about assuming that BMT is always a solution.  Please feel free to e mail us at: rocde@aol.com if you want to hear our story or discuss this in detail.  I am a medical doctor and have some strong opinions about this issue and know of several excellent specialists in the US and abroad who are most knowledgable about this rare condition. 

Mickey
rocde@aol.com

HI Mickey,

Where was your son's BMT done?

What is CDA II?

Manal

It's congenital dyserythropoietic anaemia (CDA II). You can read about the first BMT for it at

http://www.nature.com/bmt/journal/v27/n2/full/1702764a.html

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

Hey Rogue,

Was great to talk to you today!  I started a blog after we talked for people with CDA.  It's cdapatients.blogspot.com.  You can follow the blog, and you can post comments on there too.  Get anyone else you know with CDA to follow it too!

David

Hi David,

Have you made any progress towards having a BMT?

Hi Andy,

Good to hear from you   The decision was a bit out of my hands.  I was all set to get the transplant in April, and my parents decided it was too risky.  And while that wouldn't matter normally since I'm an adult, it mattered in this case because I needed their financial help to get a transplant in Israel, which is where I would have gotten it.  I am still talking to the doctors here about doing a transplant, but nothing is scheduled or set in stone so far.  I have the go ahead at the University of Chicago, and will be getting a liver biopsy this week to determine the extent of damage to my liver, which can serve as a contraindication to transplant if there is enough fibrosis or if they find cirrohsis.  If my biopsy comes out ok though, and the insurance approves it for me here, and the donor is still willing to donate ... I will have to reconsider whether or not to do it or not because of the risks that are still involved.  I just watched this HBO movie, Someone Had to be Benny, which is getting me to reconsider things a bit ... with all the anti-rejection medicine that is required after transplant. 

David

Ok,
I must confess that I like it to see here people around with an other rare blood disease. I got pyruvate kinase deficiency (pk def.) I make the wrong red blood cells because I am missing the enzyme pyruvate. I get a transfusion every 3 weeks.
What´s Congenital Dyserythropoietic Anemia Type II
(my key system messed up so no question mark).

I can not decide for you of you must have a bmt. I only know that you should try to get the hemoglobine down. I started at the level above 4500 with chelationtherapy, so you can do it. I got the problem that I am allergic for all chelationmeds. Dont try to do that! 

Hi Dore

Is it possible to be injected with the pk enzyme (or its componenets)  that you miss or this enzyme is not yet prepared in form of shots yet???

manal

Hi Manal,
No, that doesn't exist (yet). To be honest, recently I found out that pk is an enzyme.
Like you read, I still learn every day something new. =)