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[Lmastro]

Hello, I have a 7 year old son, that I am told has an inherited bone marrow failure syndrome, I am very confused, and unsure of what to do going forward, he has had multiple health problems since birth, chronic infections, neutropenia, failure to thrive, high platelets, but his hem/onc has never done a bone marrow biopsy. His health has been very poor in the last few months and he currently only weighs 35lbs. In the last year and a half I have had 2 stillborn boys, I have a daughter that is 4 and she is healthy. There is a lot of question whether it is a genetic disorder. We are being followed by genetics, hem/onc at toronto sick kids and Endocrinology, but living in Ontario our health care is very slow. I've asked for a bone marrow biopsy but hem/onc says he wants to wait, his counts last week were: neutrophils 1.2 and platelets 415. We are currently looking to get a second opinion, so we are willing to travel to the US and pay out of pocket, does anyone have any direction. Is there a specific hospital that is better to deal with in this situation?
Any advice would be very helpful!
Thank you

[NLJabbari]

Hello Lmastro, So sorry you have to be going through this.
You might want to try these links:
Dr. David Margolis @ Children's Hospital Wisconsin
http://www.chw.org/display/PPF/DocID...v/1/router.asp
You can also visit or call AAMDS at
http://www.aamds.org/ and ask for advice or guidance.
Or post this question on Facebook's
https://www.facebook.com/BandOfMothe...AplasticAnemia

Hope this helps

[Neil Cuadra]

Lmastro,

I'm sorry to hear that your son has had so many problems. Another organization you might contact is the Aplastic Anemia & Myelodysplasia Association of Canada (AAMAC).

If you've been told that your son has an inherited bone marrow failure syndrome, have you been told which one? Each of those symptoms has multiple potential causes (e.g, causes of high platelets) and a specific diagnosis is important in order to study the treatment choices.

[Lmastro]

Unfortunately we haven't been told which one, they are currently running a series of genetic tests to see if they can determine which one.