PHOENIX’S STORY – (AN INFANTILE-ONSET PATIENT)
Phoenix was born July 18th, 2003. I remember reading his APGAR test and the words of the neonatologist were “strong” however, I couldn’t tell if he was referring to his heart or his muscles. At any rate, he showed no sign of any serious problems other than the fact that he was slightly jaundice and had to go under the bilirubin light for a day before they released us from the hospital.
Everything seemed to go well for a couple of months and when Phoenix was approximately 3.5 months old I notice a soft spot on the crown of his head. It was the size of a silver dollar and didn’t seem to bother him when I touched it. We took him to the pediatrician where she was perplexed about the spot but, in the process of giving him an exam, heard a heart murmur. She then sent us to a neonatologist who said I’m not too worried about the soft spot on his head, but you need to have a cardiologist look at his heart. The whole time Gina and I thought the soft spot was a problem and he would grow out of the heart murmur, boy were we wrong.
Once at the cardiologists, Phoenix was examined by ultra-sound. I looked at the ultra sound not knowing what I was looking at but something didn’t seem right. The doctor informed us that Phoenix has a very rare condition known as hypertrophic cardiomyopathy. I remember standing in that small exam room and feeling the blood run out of my body as he explained all of the different variables from treatment, to transplant to the fatalities associated with his condition. I felt like I was in a different dimension, this can’t be happing. His mother and I cried uncontrollably when we finally got out of there and had no idea of the other news waiting around the corner.
Finding the cause of his hypertrophic cardiomyopathy was our next quest. After a series of test and blood draws and muscle tests no headway was gained. Throughout these talks with cardiologists from around the country and other specialists, the name Pompe was tossed about but never seriously considered. Pompe’s disease was a grim diagnosis with a 0% survival rate.
Gina and I came across the name of Dr. Barry Byrne through unrelated contacts. Dr Byrne is a pediatric cardiologist that specializes in molecular medicine at the University of Florida. We were able to contact him on the phone and send him a fax of Phoenix’s EKG. He said there is a 99.9% chance our son has Pompe’ and we need to stop what we are doing and come to U.F. to verify the Pompe disease and to enroll in an upcoming clinical trial. Clinical Trial!! I don’t think we even hung up the phone, we gathered clothes and grabbed Phoenix and were in the car to in about 5 min.
When we arrived in Gainesville we met Dr. Byrne and all of the people working with him on this Pompe project. They were the nicest group of people you could ever imagine, our saviors! Phoenix was officially diagnosed with Pompe’s Disease at 6.5 mo of age 3 mo. after the hypertrophic cardiomyopathy diagnosis. This was a relief and a curse all in the same breath.
Getting in the clinical trial was our next step, after lots of phone calls and lots of finger crossing Phoenix was accepted into Clinical trial # AGLU01702 at the age of 8 months. It has been almost 2 years since his first infusion and we have seen a tremendous turn in Phoenix’s overall health in that time. He is not on any ventilation but does have a G-tube. The most important issue was his heart. The hypertrophic cardiomyopathy has regressed quite extensively and his heart is 100% better than it was, and its function is now completely normal. Phoenix can sit up unassisted better than he could at 1 year of age, however you wouldn’t want to walk away from him if he was sitting on a hard surface. He has much better shoulder strength than he did at 1 year of age and has recently been able to push himself in his wheelchair around the whole house. There are many minor improvements and his overall condition seems to be improving, however there are still persistent muscle groups that are continuing to elude therapy.
With all of that being said we know that Phoenix would not be here if it were not for Enzyme Replacement Therapy. We are very thankful for Genzyme and what they have done for our son.
George, Gina and Phoenix
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To further research into Pompe Disease, as well as support Pompe patients around the world, private funds must be raised. If you are interested in learning more about Pompe Disease and would like to make a contribution in support of necessary research, please contact us at:
AMDA (Acid Maltase Deficiency Association)
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