New Member from Syracuse, New York

Hello Everyone,

My name is Amanda and I have a one year old daughter, Olivia, who was diagnosed after a bone marrow biopsy and genetic testing with Beta Thalassemia Major. It has been a long year. Olivia began showing symptoms at 6 weeks of age but we did not receive a diagnosis until she was 10 months old. I have learned a lot about Thalassemia but I am still scared and trying to accept the diagnosis. After all she has been through, Olivia is beautiful and thriving.

I hope to learn more about Thalassemia and to meet many others who are going through the same thing.

Welcome to our group. I feel that this should have been diagnosed at birth by newborn electrophoresis testing. Can you tell me which hospital the child is being treated at? I know people in your area and what to make sure you are going to a hospital where they understand thalassemia well. I would also give the highest recommendation to contacting Eileen at the Cooley's Anemia Foundation and registering with them. They can help you get set up with the annual visits to a thalassemia center of excellence. These trips and the full assessments they give are very important to the long term health of the child.

Cooley's Anemia Foundation
330 Seventh Avenue, #900
New York, NY 10001
(800)522-7222
Fax: 212-279-5999

Patient Services Manager
Eileen Scott
escott@thalassemia.org

Thank you, Andy. They initially performed electropheresis at 10 weeks of age but at the time I was told it was inconclusive due to Olivia still having to much fetal blood. They were not convinced she had thalassemia at all based on how early she presented with symptoms and how her red cells looked under the microscope. They thought she was carrying some temporary maternal antibodies that would eventually resolve on its own. She receives treatment at Upstate Golisano Children's Hospital. They have reached out to Boston Children's Hospital at my request because things were not getting better. This is when they ordrered the bone marrow biopsy. At this point she was diagnosed by Upstate's pathologist with Sideroblastic Anemia. This diagnosis lead us to have genetic testing completed by Boston which showed she does in fact have Beta Thal Major. We have not been seen by Boston as a patient or have even spoke to anybody in Boston. It has always been MD to MD. Currently, Olivia receives blood transfusions every 3 weeks on the dot. The plan for iron chelation is to begin Jadenu when she is age two.

I will contact Eileen at the Cooley's Anemia Foundation. Thank you for that information.

Any advice and recommendations would be greatly appreciated. I want to make sure I'm making the best medical choices for Olivia. We have been thrown in so many directions over the last year that it is difficult not to be skeptical.

Kind regards,

Amanda

Boston Children's is one of the Thalassemia Centers of Excellence and it would definitely be beneficial to have an annual visit there. While the hematologists at Golisano are quite good, they do not have the same experience treating thalassemia as do the centers, so the annual trip to the thal center should be arranged.

Hi there. Welcome to a great site full of supportive people. Just know that everything will be okay and there are lots of great people here to help answer questions along the way. Eileen is fantastic and I highly recommend contacting her.