No Diagnosis looking for insight

[lizab]

A quick history of my son's issues...
He is now 16 years old and started at the age of 14. His peripheral blood lines were mildly low for more than 6 months and he was sent to a hematologist. She did a bmb and found his cellularity to be 35% with no other abnormalities found other than low iron stores and decreased Nk function. He has since since had 5 bmb with the lowest cellularity being 30% and most recent increased to 50%. The last report stated "mildly dyspoitic erythroids and myloids" and plentiful megakaryocytes with a rare atypical form noted". This has never been reported on any of his biopsies before. The doctor did not mention these findings until I noticed them and questioned what that ment. She said she was going to speak with the pathologist to find d out exactly what he saw. She has also expedited the FISH and cytogenic study that was sent to another lab.

Any insight on these findings would be gratefully appreciated. I am concerned that I should be getting a second opinion or does MDS take several years to diagnose?? I want to be doing everything I can for my son.

Thank you in advance for any advice or information.

[Marlene]

What other tests has she run other than BMB? That seems like a lot of BMBs in 2 years. And what has she ruled out so far? Are his blood counts still mildly low or are they dropping?

A second opinion is always a good idea. It's important to collect all his test/lab results and chart them to follow trends. Also look at any illnesses or medications that occurred prior the low counts. Helps to look for possible triggers.

I see you're in Ohio. There's a very good doctor (Dr. Maciejewski) at the Cleveland Clinic who treat adults. I'm sure they can connect you with a pediatric doctor who is very experience with blood disorders. http://my.clevelandclinic.org/staff_...?doctorid=4362

There's also an excellent pediatric doctor in Wisconsin...http://www.chw.org/physician-directo...golis-david-a/


Do you know the reason for the low iron and has that been corrected?

Doctors are not very good at assessing nutritional issues and IMO, it's very important, especially when you're in this limbo period, to fully explore the nutritional aspects and digestive health.

Hope this helps.

[lizab]

He has a family history of blood cancers. His dad had ALL and a brother with cutaneous non-hodgkins lymphoma.

He has had a genetic panel for MDS with nothing abnormal showing. He has blood work done monthly with consistently low wbc and hemoglobin. His wbc runs stable at 3.2 to 4.2 and hemoglobin 10.8 to 12.2. He has had iron infusions once (total of 4 infusions) and his ferritin stayed up for about two months but has recently started to fall again. He has done several stool samples looking for blood loss and all of them coming out negative. He has had a upper gi scope with negative results. We kept a journal for two weeks of everything he ate and she felt he was eating a healthy diet.

He has also traveled to the National Institute of Health and all they came up with there was hypocellular marrow at 30% and was advised to keep close clinical watch and a bmb every 6 months.

My concern is with the new result of dyspoietic erythroids and myloids and the atypical megakaryocytes.

Thank you for you input for the second opinion and I will definitely look into the physician at the Cleveland Clinic. That is where my oldest son was diagnosed.

[Marlene]

It's been awhile since John went through his work-up. Even though he was 51 yrs old, they still checked him for congenital diseases like Fanconi anemia, Dyskeratosis congenita, Diamond-Blackfan anemia and Shwachman-Diamond syndrome. It would have been pretty rare for him to have any of these but it still needed to be ruled out.

He was also checked for PNH.

If they haven't already checked, it may worthwhile.

[Hopeful]

Hi lizab,

Marlene has given you some good advice. I would use this time to get that second opinion.

It is not unusual to see "mild" dysplasia in the red cell line with aplastic anemia. The atypical megakaryocytes were described as "rare", so I would try not to panic about that. It is unusual to see MDS in the young.

Has your son had any major viruses or illnesses?

[lizab]

Thank you for your replies. My son was also tested for all of the congenital diseases you mentioned above and all were ruled out. And he has not had a major virus or illness. He actually stays pretty healthy other that mild fatigue.