Gabriel L.

Hi, our son Gabriel was born in London. He was diagnosed with propionic acidemia at 2 weeks of age after spending his first hours of life hyperventilating and with severe acidosis and high ammonia. Luckily, the medical team at Great Ormond Street Hospital for Children was very good at stabilizing him and at diagnosing him very quickly. Despite never showing actual fits, Gabriel was then diagnosed with infantile spasms (a type of childhood epilepsy) at 5 months of age after deteriorating progressively. We were again very lucky that he responded well to treatment with vigabatrin. He was weaned off medication at one year of age and has been seizure free since. At that same age, he stopped eating by mouth completely and a g-tube was inserted in his stomach for feeding. His formula currently comprises pediasure, polycose, XMTV1, vitamins and flax oil. He is been very stable metabolically for the past two years and is been followed up by the metabolic team at Children’s Hospital of Philadelphia every six months.

Gabriel’s development was very slow until 18 months of age but he has made tremendous progress since he started therapies with the Early Intervention Program when we moved to the United States. He just transitioned to a special education pre-school program where he continues receiving OT, PT and ST. Since he started school, his gains have been really amazing. He just started talking and is able to comprehend perfectly and speak words in all three languages he hears. He has also gained cognitively and matured a lot. He has still a lot to catch up being his major challenges his low tone and his speech but we embrace his enthusiasm and effort and try to offer him as much support as we can.

We’ll be happy to hear from other parents with children with PA and to share any useful information we may have.

Sincerely,

Marisa Cotrina and Juan Carlos López

Parents to Gabriel López, 3.9 PA

New York, NY

mlcotrina@yahoo.co.uk