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My Patient Story

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Libby

State: Louisiana
Congressional District: LA03

Diseases

Genetic Disease

Issues and Challenges

Libby has encountered: Access to Expert Providers, Copay Issues, Insurance Issues, Medicare / Medicaid Issues, Caregiving, Disability

My Story

Hi! I am Amélie Tully Airhart I was born July 2013 at 33 weeks (2 months early ) and after a month in the NICU I was able to go home for a short time. In May of 2014 I was diagnosed with CFC (Cardio Facio Cutaneous Syndrome) after several months of hospital and ICU stays and numerous misdiagnosis by different doctors who were searching for answers for me.

This is My Story

CFC is an extremely rare syndrome with just over 800 diagnosed cases WORLDWIDE (11 in Louisiana) . The syndrome affects the heart (cardio-), facial features (facio-), and skin (cutaneous-). CFC is caused by a mutation of a gene at the time of conception or hereditary. There is currently no known cure for CFC and is in some cases deadly, but with proper management, intervention , and extensive therapies Amélie's health will hopefully improve.

Common with CFC Children, Amélie has a relatively large head, curly hair, and areas of scaly skin along with a heart murmur and a small hole in her heart which is closely monitored. Amélie is being fed via a g-tube (tube surgically placed in stomach and fed specialty formula by machine). She currently also has a surgically placed Mediport which is for iv therapy and an access point for blood to be drawn and monthly Immune replacement infusions. Because our visits were so frequent this was another necessary surgery after she began developing a fear of Nurses from being stuck a multitude of times for iv and blood during all of the hospital stays along with the constant "blowing" of the iv sites.

She has a fatty acid oxidation defect in which her body doesn't absorb carbohydrates resulting in a low body weight and is a contributing factor to a "failure to thrive" diagnosis along with her other current diagnoses. She is fed a special formula with additives due to this condition which is very costly and as you would imagine she goes through a large amount as a growing child. She was diagnosed Heteroplasmy Mitochondrial disease. She also has a mutation of the grin2a gene. She was recently diagnosed with Von Willebrand syndrome and Raynauds disease.

Most Children diagnosed with CFC will have some degree of learning difficulty and developmental delay. Amélie at the age of 7.5 years old is able to walk only very short distances, uses sign language for communication and attends school 3 days a week.
Amélie also was diagnosed with hyperopia, and astacia which are both eye conditions. Her eyes (one at a time) drift to the side but are eventually drawn back to the center. This is currently being monitored at Texas Childrens Hospital and may eventually result in another specialized surgery for her. Her mother was forced to leave her job in order to care for her at home and the hospital. Currently her mom serves as the program coordinator for CFC International.

The wonderful doctors at Tulane in New Orleans and Children's hospital and pediatrician Adrienne Musumeche take the most wonderful care of her. Through all this Amélie has remained tough and is a very happy child, her constant smile will stick with you if her unique laughing chuckle does not.

My Motivation and Inspiration

I will praise thee; For I am fearfully and wonderfully made" (psalm 139.14)

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