Diagnosis FINALLY!

[Stephanie]

Hurray, I think...although it is just the beginning of another LONG journey, at least we finally know what we are up against. My son was diagnosed in September MDS with Trisomy 8. His doctor was 80% sure that he wouldn't have any chomosome abnormalities (he had NONE with the prior 3 BMB)and had ordered him to undergo ATG therapy after his port was placed in his chest. That darn 20% was, of course, what my baby had to be in! They literally received the phone call from the lab the morning he was to be admitted into the hospital. Thank goodness for the FISH test! He was supposed to have had that done after his third BMB, the doctor had ordered it, but it wasn't completed. They are going back and doing it again to see if we caught the Trisomy 8 in the beginning stage or if it has been there all along. So, now that we have a diagnosis, we can beat this disease.

The only option is a Bone Marrow Transplant and I am still coming to terms with all that entails. He hasn't had any perfect prospects with potential donors. I am ok with waiting until they find the right one for him. His doctors don't seem to be in too big of a hurry as long as his numbers stay up. We have clinic tomorrow and will know more then. I wish we were facing this at a different time of year, and NOT FLU SEASON! The hospital where my son will be receiving his transplant is closed to anyone under the age of 12, unless they are a patient. They try to minimize the risk to the patients already in. Unfortunately, I have a younger child that requires my attention as well. We will learn to balance in the coming months, and accept all the help we can get! I am curious to know if there are any pediatric MDS cases out there that have survived a Bone Marrow Transplant? Thanks for taking the time to read our story.

[Neil Cuadra]

Forum member "mom2c2008" posted last year about her 7-year-old daughter who had a bone marrow transplant for MDS.

The transplant process is basically the same from one disease to another, but the experiences of individual families of course differ. You might compare notes with families who have experienced transplants for either pediatric aplastic anemia or MDS.

According to an article from 2007, the annual frequency of MDS is 0.5 to 4 per million for children and 20 to 40 per million for adults. That article and an earlier article discuss classification of the disease subtypes, saying that it makes sense to use different classification schemes for pediatric and adult MDS. A diagnosis of "refractory cytopenia" may be given when bone marrow blasts (determined by a bone marrow biopsy) are less than 5%, although the significance of the blast count is apparently an issue of debate among doctors. It also says that "children with trisomy 8 and other karyotypes may experience a long and stable course of their disease." Stability is good news.

We wish you all the luck in the world in finding a donor match, and in successfully dodging the flu.

[evansmom]

Hi Stephanie,

Sorry to hear about your little guy but at least you know what you're dealing with.

I wanted to let you know of a mom I met when I was at transplant with my son last year. Her then 2 year old daughter Emma had a related cord blood transplant for MDS. Aside from a few blips of infection before she engrafted, Emma did exceptionally well and is now a healthy 3 year old who is 16 months post BMT. Her mother Jeanette is wonderful and could be of support to you I'm sure. You can locate them on Facebook. Just search "support for baby Emma" and you'll find updates and contact info there.

Best wishes,

Nicole

[Lisa V]

Stephanie, you say your son was scheduled for ATG before they found the trisomy 8. I'm guessing he must have originally been diagnosed AA. Do I understand correctly that those plans were cancelled once the new diagnosis was made? Did they say why?

I ask because my husband's situation is very similar. His diagnosis was officially changed from SAA to hypocellular MDS once they found a trisomy 8 clone in his third BMB, but none of that has significantly changed his course of treatment. He has had 2 ATGs and responded well to them. The only impact from the chromosomal mutation has been that it seems to mean he will have to continue immune suppressants as long as it is present. His first attempt at tapering the cyclosporine resulted in relapse, necessitating a second round of ATG. At that point I found an article citing an apparent relationship between secondary onset trisomy 8 and continued CsA dependency. I showed it to his doctor, and we haven't attempted any more tapers since then.

We don't actually know if the trisomy 8 clone was there all along (and was just so small it didn't show in the first 2 BMBs) or not. It's possible that it was, and that's what triggered the autoimmune attack in the first place (which would explain why continued immune suppression is needed). The 3rd BMB showed a 25% clone, but since then it's been only 5%, i.e. one cell out of the 20 they look at. At any rate, ATG/cyclo has been an effective treatment. He has a sibling match, but at his age we don't want to go that route unless we have to. His counts have continued to improve and he's doing very well, so that's good enough for us right now.

Obviously the prospect of spending the rest of one's life taking immune suppressants has much greater ramifications for a young child than it does for a middle-aged adult, and if a good match can be found for your son, he would be a much better candidate because of his age. If there is not a good match, however, I'm just wondering why ATG seems to be off the table as a fall-back option now. If that was the original plan, I'm assuming his marrow is hypoplastic as well, is that correct? Did they say how big his clone is? You might want to take a look at the article below and discuss it with his doctor.

http://www3.interscience.wiley.com/j...TRY=1&SRETRY=0

[cola1988]

My daughter had a BMT in Jan 07 for MDS. Although she had shown no signs of chromosomal adnormalities, they changed her diagnosis from AA to MDS because of her cell changes. She is almost 3 yrs post transplant with no complications what so ever. Her brother was her donor and was 10/10. You can read her story on carepages.com - page name is AliciaGaren or feel free to email me at cola_1988@yahoo.com. I will help anyway I can. I was comforted when facing the prospect of BMT by reading other children's stories on carepages, even if the BMT was for another disease. It helped tremendously with knowing what to expect and when. Good luck and god bless, Nicole Garen

[BeautyForAshes]

I just wanted to say hello. My son is also 3 years old and it took many many months to finallyget the diagnosis of Aplastic Anemia. Do yo have a carebridge or carepage? I'd love to chat with you, Alida http://www.caringbridge.org/visit/josiahrodriguez