Hi everyone. I am a mom of a newly diagnosed 6 year old girl with Beta Thalassemia Intermedia.
I have always know I am a beta Thalassemia carrier and when I met my husband I had him genetically tested. His first test came out positive that he was also a carrier. I made an appointment with a genetic counselor to fully understand what it would be like to raise a child with Thalassemia. I only had two exposures to children with Thalassemia. A young boy that passed away before his 6th birthday and a young girl in her 20 that had been undergoing regular transfusions.
The genetic counselor took blood samples again and we scheduled to meet another young couple that had a child with Thalassemia. At our second meeting the genetic counselor confirmed that I was a carrier of beta thalassemia but that my husband was not. He had something know as Hereditary Persistance Fetal Hemaglobin. I was confused how one test could be positive and another negative. The counselor assured me there test was more thorough, the results did take two months to come back. I knew from myself my blood test often indicated I was anemic, when in fact I was a beta thal minor. The counselor refused to let us continue to meet the young couple. She said that we wouldn't be in that situation and it would not be fair to the other couple to meet with us.
The counselor discussed our two conditions and covered genetics, like we would have a 25% chance of having a child with neither beta thal minor not HPFH. And so on. We had a 25% chance of having a child with both beta thal minor and HPFH at the most they would be pale, have an enlarged spleen but lead a relatively healthy life.
When my daughter started kindergarten this year, in September she changed drastically. She stopped sleeping well, she ate poorly, she look more tired then normal, very pale with yellow tone and was always so tired. I took her to the doctor when she had an ear infection. I reminded him I was a carrier, because sometimes I get really pale-yellow and my spleen is larger then normal, but not like someone with major thal. He advised me to do the Thal test. I was shocked when the test indicated she had Major Thalassemia. I kept telling them that was not possible, we were genetically tested…
We went to the children hospital and they confirmed she had Major Thalassemia. I was over whelmed with information about, putting in a portal for transfusions and starting transfusions soon…I sent them the letter I had from the genetic counselor, they must have found something else, because they downgraded her to intermedia. They were shocked to see a relatively vibrant 6 year old. Honestly I never saw a sign, now I beat myself up and should have noticed the high cheek bones, the high forehead the excessive paleness, the bloated abdomen.
Anyways, I am so happy to have stumbled across this web site. I am glad to meet other parents and patients dealing with Thalassemia – it gives me hope.
Alexia