Enzo Briguglio | CaringBridge

Enzo Briguglio Enzo Updates

First post: Oct 2, 2018 Latest post: Oct 29, 2018


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Enzo Briguglio (now age 5) was diagnosed with a rare, genetic blood disorder in 2014 when he was 10 months old. He had been ‘failure to thrive’ since birth due to an inability to gain the proper amount of weight for a new born but otherwise appeared perfectly normal. In June of that year when mom was changing Enzo’s diaper she felt an unusual lump in his tummy. Through blood testing at Children’s Hospital in Boston a diagnosis of Beta Thalassemia Major was confirmed. The lump in his tummy was a very enlarged spleen that was working overtime to produce red blood cells that, unfortunately, were not doing the job intended. His spleen did retract over time with the proper treatment.

Beta thalassemia is a hereditary disease. It’s an extreme form of anemia affecting the production of hemoglobin. Normal red blood cells contain hemoglobin which carry oxygen to cells and organs throughout the body. When a patient has Beta Thal Major, these red blood cells are defective and they do not produce hemoglobin. In order to remain healthy, patients must receive regular blood transfusions. 

While more common in Europe and Asia, Beta Thal Major is a very rare diagnosis in the United States. Global annual incidence is estimated at 1 in 100,000, in the US its estimated at 1 in 272,000. Family history and ancestry are factors that increase the risk. Depending on your family history, if your parents or grandparents suffered from beta thalassemia there is a high probability of the mutated gene being inherited by an offspring. Even if a child does not have beta thalassemia major, they can still be a carrier resulting in future offspring having beta thalassemia (which is what happened in our / Enzo’s case. Both Enzo’s mom (Gina) and dad (Vnny) are carriers of one mutated gene. Enzo’s DNA sequence includes both mutated genes which resulted in the full expression of the disease.)  Another risk factor is because of certain ancestry. Beta thalassemia occurs most often in people of Italian, Greek, Middle Eastern, Southern Asian, and African ancestry. Enzo and his family are of Italian (Sicilian) ancestry.   

Affected children require regular lifelong blood transfusions and can have complications, which may involve the spleen. Patients receive frequent blood transfusions that lead to or potentiate iron overload. In Enzo’s case, he transfuses in Boston every 3 weeks. He has had 75 transfusions to-date in his lifetime. The transfusion is painless but it does take ~4 hours each time plus the travel so it ends up being a full day experience. Iron overload is an unavoidable consequence of chronic transfusion therapy, necessary for patients with beta thalassemia. Iron chelation is a medical therapy that avoids the complications of iron overload. Enzo takes 2 medications (iron chelators) which aim to remove excess iron from his blood stream. Iron chelation treatment is necessary to prevent damage to internal organs. Advances in iron chelation treatments allow patients with thalassemia major to live long lives with access to proper treatment. 

Bone marrow transplants (BMT’s) can be curative for some children. In Enzo’s case, his sister Francesca (Franki) is a perfect DNA match (minus the mutations!) and will be the bone marrow donor. Working with the team at Boston Children’s Hospital and Dana Farber Cancer Institute, Enzo is ready to undergo the BMT. He is now confirmed to be admitted to the hospital on Oct 16, 2018 and his BMT is scheduled for Oct 26, 2018.  Part of the BMT involves chemotherapy to remove Enzo’s current defective bone marrow, prior to the BMT. Following the BMT, he will be hospitalized for several weeks as doctors monitor for success. Enzo will then be released for home care but he must remain isolated from potential germs or sickness (as he will not have a fully rebuilt immune system in the beginning.) He is free to go outside (park, beach, etc.) but he cannot be in enclosed places (school, church, the mall) where germs may be lurking. Full recovery time is estimated at 8 months and we anticipate he will be able to attend kindergarten in the fall of 2019. 

Finally, Enzo is aware of his disorder but does not register that he is sick in any way. You would likely not know so either as he looks and acts like a normal 5 year old boy, with the exception of his daily medications and the transfusions. He is not sad or afraid, he knows that the BMT will fix his red blood cells and he will not have to transfuse in the future (which makes him very happy.)  However, he does not comprehend what lies ahead in terms of the chemo therapy and recovery time. Mom will be taking leave to care for him, we feel very blessed despite a very serious situation, and ask only for your positive thoughts and prayers over the coming months.

 In faith, hope and love, 

 Gina, Vinny, Enzo and Franki









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