16yr old Cousin Diagnosed with AA

[thesubmitter]

Hi,

My 16yr old cousin was diagnosed with AA a couple of days ago and I was hoping I could benefit from your collective experience.

His sister wasn't a match and so the doctors are proposing an ATG treatment.

A few specific questions:
1. Are there any specialists in the L.A. area to consider (or anywhere else really). He is currently at LA children's hospital.
2. Is care better in Canada (he has dual citizenship)?
3. Is it normal to go from considering familal BMT straight to ATG treatment, what about National Bone Marrowdata bases or cousins (there are about 10 cousins)
4. Any things I should get the family to investigate or questions to ask.
5. Could this be a misdiagnosis.

I'd appreciate any advice, ideas or help you can all offer that I might share with the family.

To all of you who are going through this terrible disease, I wish you the best in your fight, you are brave courageous people.

Thanks,
Amir

[KimO]

Let me preface my reply by saying tha I am not a medical professional, just a mom who has done lots of research since my daughter was diagnosed 3 1/2 years ago at age 19.

1) I believe Dr. Paquette at UCLA is considered one of the best AA specialists on the west coast. The Fred Hutchinson Center/NW Cancer Care Alliance in Seattle are transplant experts. The National Institutes of Health is a resource or Dr. Brodsky at John's Hopkins is another AA expert. One of the premier pediatric AA experts, especially as it relates to transplants, is Dr. Margolis in Wisconsin.

2) I can't speak to the care in Canada but it might be something to consider depending on the insurance situation.

3) The usual protocol for treatment is to seek a matched sibling transplant. If that is not available then ATG is typically the next step. If no response to ATG then they would consider a 2nd ATG or a matched unrelated transplant. Dr. Brodsky promotes an alternative to ATG in high dose cyclophosphamide (Cytoxan), which mimics the preconditioning of a transplant without the transplant itself. It is not impossible for parents or cousins to match a patient but it is highly unusual. In my daughter's case my husband and I were not tested because they indicated that they could tell from the profiles of our children that either one of us would be no better than a half match. We went ahead and registered anyway in case we could help somebody else.

4) Before proceeding with ATG from a given facility, ask about what kind of experience they have had with administering the treatment -- number of patients treated, what protocol (number of days, etc.) they use. If your cousin is in the LA area there are most likely more choices for care than some other areas. We were told that our daughter was the first to receive horse ATG at Sacred Heart in Spokane, WA and the nurses were very obviously not comfortable with the process, which was following a protocol provided by NWCC in Seattle. We ended up in intensive care the second day simply because the hives from the first day scared the floor nurses so badly. Believe me when I say that treatment is scary enough without the worry that your care givers don't really know what they are doing.

5) Misdiagnosis is a posibility in nearly any disease -- especially one so rare. My understanding is that AA and hypo MDS are often difficult to tell apart. Diagnosis of AA is based on blood levels from CBC, along with cellularity level and cytogenics from a bone marrow biopsy. Without details of what those showed for your cousin it would be hard to know whether AA seems a reasonable diagnosis or not.

I want to encourage you to keep asking these questions and thank you for coming alongside your cousin's family they way you are doing. A diagnosis of a life-threatening disease often leaves folks in so much shock that they can end up quite a ways down the path before emerging brave enough to start asking those questions.

Please let us know how else we can support you and how your cousin is doing!

[squirrellypoo]

Originally Posted by KimO

5) Misdiagnosis is a posibility in nearly any disease -- especially one so rare. My understanding is that AA and hypo MDS are often difficult to tell apart. Diagnosis of AA is based on blood levels from CBC, along with cellularity level and cytogenics from a bone marrow biopsy. Without details of what those showed for your cousin it would be hard to know whether AA seems a reasonable diagnosis or not.

I just wanted to emphasise this and make sure that their BMB results are checked over by another set of eyes before proceeding with ATG, because while it can work brilliantly on AA, ATG has no effect on hypo-MDS.

[Hopeful]

Originally Posted by squirrellypoo

I just wanted to emphasise this and make sure that their BMB results are checked over by another set of eyes before proceeding with ATG, because while it can work brilliantly on AA, ATG has no effect on hypo-MDS.

It can be effective for immune-mediated hypo-MDS, especially for younger patients with the RA subtype. However the response rate is lower for than for AA patients.

[Lisa V]

Originally Posted by squirrellypoo

while it can work brilliantly on AA, ATG has no effect on hypo-MDS.

I have to disagree with this. Finding my husband's trisomy 8 changed his official diagnosis to hypo-MDS, but it has not changed his response to ATG. He has had a very good (if slow) response. It is the hypercellular forms of MDS that are not as likely to respond to that treatment, although there have been some cases that have.

http://www.ncbi.nlm.nih.gov/pubmed/1...ubmed_RVDocSum

I also want to give a big thumbs up to KimO's reply. Her answers to all the questions are right on the money!

[2BPilot]

Looking to find out if there are any other children with severe Aplastic Anemia in Canada? Anybody getting the hATG treatment?

[Neil Cuadra]

Originally Posted by 2BPilot

Looking to find out if there are any other children with severe Aplastic Anemia in Canada? Anybody getting the hATG treatment?

2BPilot,

I suggest that you start a new thread in the Canada forum to ask if there are other families like yours, with a young person having ATG treatment.

[evansmom]

Hi there Amir and 2BPilot.

My son Evan was diagnosed with sAA, treated unsuccessfully with horse ATG and went on to have a completely successful unrelated, imperfectly matched BMT all within a year of his diagnosis. He was treated at McMaster Children's Hospital in Hamilton and Toronto's SickKids. This was when he was 10, 7 years ago. His Caringbridge link is below in my signature and he is profiled HERE at Marrowforums, where his entire journey is summarized.

Best wishes to your cousin, I think it's fantastic that you're sourcing out info for he and his family.

[angela F]

Originally Posted by 2BPilot

Looking to find out if there are any other children with severe Aplastic Anemia in Canada? Anybody getting the hATG treatment?

My daughter just got diagnosed with SAA in Canada. We are going to the Hospital for Sick Children. My daughter is a complicated case and they are still testing her for different genes now and 14 weeks later we are still waiting for results. She has had 13 platelet transfusions thus far. Her siblings were not a match so they want to start ATG after they find out the gene results.