Khaleb

Khaleb with his Mother and Dr. Bauer

Khaleb is an adorable 4 year-old from Argentina who has been diagnosed with Gaucher’s disease Type I. This hereditary deficiency of the enzyme glucocerebrosidase causes a fatty material to collect in the spleen, liver, kidneys, lungs, brain and bone marrow. Some of the symptoms that Khaleb had when we first saw him when he was two years old were: enlarged spleen and liver, painful bone lesions, distended abdomen, low blood platelets and yellow fatty deposits on the whites of his eyes. Because of his mother’s concern that his enlarged spleen might rupture, she had to limit all of his activities.

Fortunately, Khaleb’s form of Gaucher’s may be treated with enzyme replacement therapy. Genzyme Therapeutics has been supplying this life saving enzyme, while CFC has been covering the cost for his twice-monthly infusions at Miami Children’s Hospital since October 2007.

As you can see in the first picture, taken in October 2007, Khaleb’s stomach was very much distended. He was a very sick and very lethargic little boy. In the second picture, taken at our gala fundraiser in 2008, you can see how proud he is of his flat tummy and how happy he is to be feeling so much better. This darling little boy was our very special guest at our gala, winning the hearts of everyone in attendance. You will find additional pictures of him showing his big smile and darling personality by going to the “ABOUT US” section on the website and clicking “Gala.”

We are all hoping that research will develop a cure for this disease very soon for Khaleb and others like him.

UPDATE

February 15, 2010: After having paid $32,355.50 for his infusions since October 2007, Khaleb may now qualify for Medicaid.

Dr. Bauer, Khaleb and therapist

Khaleb tummyKhaleb at gala tummy

On Left: Khaleb's distended tummy pre-treatment

On Right: Khaleb at CFC 2008 Gala showing a healthier tummy thanks to ongoing treatments

Khaleb at Child Foundation Charity Gala 2008

Khaleb with his Mother at 2008 Gala