From a Parent’s Perspective

by Vincie DiLorenzo 

Paul was diagnosed with thalassemia major when he was four months old. At that time, he looked pale, but otherwise appeared to be healthy. Blood tests would prove otherwise.

My husband and I were unaware that we were carriers of this genetic disease; that there was a one in four chance in every pregnancy that a child would be born with thalassemia major. It was even more shocking to us because Paul has an older brother who doesn’t even carry the thalassemia trait.

We had no idea what this was or how our lives were about to change. We went to see a specialist on blood disorders. I brought a tape recorder so I could record the visit, afraid I would miss something important. I still have that tape, twenty-five years later.

The specialist told us that Paul’s red blood cells were abnormal in shape and size and that he could not reproduce his own blood cells. Because Paul could not reproduce his blood cells, he would need blood transfusions to keep his hemoglobin at a normal level. All this seemed unreal, but at the same time, we wanted his home life to be as normal as possible.

The blood transfusions started when Paul was twelve months old. They have continued every three to four weeks for the last twenty four years and will continue for the rest of his life.

A nurse once told me “you do what you have to do”. And we did. There were the constant blood tests. Watching the nurses trying to find a vein in my small child always broke my heart. There were all the late nights at the hospital, waiting for the type and cross, waiting for the blood, waiting for the blood to finish transfusing so we could go home. Always waiting.

And with the transfusions came a high iron count. When Paul was two, I had to learn to insert a needle in Paul’s stomach every night so the drug Desferal could excrete the excess iron out of his system through his urine. Just imagine a two year old running around to get away from the treatment and the full family effort it took every night to make sure that he was getting his medication. We can laugh now but it wasn’t so funny then.

In patients who have thalassemia the excess iron, from transfusions, binds itself to vital organs if it is not removed through treatments such as Desferal. Over time this excess iron can shorten his life span by causing complications to his organs.

His ferritin level, a measure of the iron in Paul’s body, remains fairly low, but liver biopsies are showing that his liver is becoming overloaded with iron, so he is on a more aggressive Desferal treatment.

Years ago a child rarely lived to adulthood. Now they are living productive lives well into their 40’s.

At twenty-five years old, Paul is doing quite well. He is married and he and his wife, Melissa, are pursuing their doctorate degrees. Paul now has an implanted portcath that allows him to receive his blood transfusions and Desferal treatment thru the port, instead of through his overused veins. He has taken over the responsibility of scheduling his transfusions and making appointments with home health care nurses for the Desferal treatments. Paul has developed a wonderful relationship with all his doctors and nurses at the hospital.

The hospital trips, doctor appointments, and calls to nurses are a daily reminder that he has to continually monitor his condition. Even a slight fever can mean a trip to the doctor’s office to check for infection. We are very fortunate that over the years Paul has taken an active role in his treatment. He is not afraid to question the doctors or make suggestions.

It has not been easy having a child with thalassemia, there are constant worries about his health and worries about his future. Yet over time we have learned to deal with these issues as they come. We have become part of organizations such as the Thalassemia Support Foundation because it’s not just Paul who needs to know and be supported by other thalassemia patients; we parents need that support as well. We have done our best to provide Paul with a “normal” life in spite of the circumstances. As part of a close knit Italian family, Paul will always have our love and support.

Thalassemia doesn’t just impact the patient; it impacts everyone that knows them.