The story of Micheale
Charlotte was born by c-section on July 25, 2010. Due to my gestational diabetes she weighed 9 lbs, had immature lungs and an enlarged heart. She stayed in NICU for one week. We were told over time her heart will shrink to normal size. On September 3, 2010 our life changed as Tom & I never imagined it would. We became “Those Parents” you NEVER wanted to imagine being. WE ARE the parents of a child with a rare disease and was told without treatment she has a life expectancy of 6 to 8 months…….. Charlotte was born with Infantile Pompe disease with Hypertrophic Cardiomyopathy.
Early onset (or infantile Pompe disease) is the result of complete or near complete deficiency of GAA. Symptoms begin in the first months of life, with feeding problems, poor weight gain, muscle weakness, floppiness, and head lag. Respiratory difficulties are often complicated by lung infections. The heart is grossly enlarged. More than half of all infants with Pompe disease also have enlarged tongues. Most babies with Pompe disease die from cardiac or respiratory complications before their first birthday.
Pompe disease is very rare and is estimated to affect between 5,000 and 10,000 people worldwide.[1], [2] Because it is so rare and can be difficult to diagnose, the exact numbers of affected individuals are hard to determine.
As of today, February 2016, Charlotte is 5 1/2 years old. She receives enzyme replacement every two weeks. During the past 5 years she has overcome many illnesses and pray she will be able to overcome any in the future. We do have an understanding that with every respiratory illness she has it weakens her lung more and more.
We don’t know what tomorrow will bring but what we do know is we have RIGHT NOW and NOW is what we are living for. Charlotte is a typical 5 year old, she is not defined by her disabilities by any means. To her it is her normal life!