Written by Tom Renner, Ridgefield Daily Voice:
RIDGEFIELD, Conn. — Meg and Drew Whitbeck of Ridgefield reacted differently when they learned in February that their one-year-old son, Luke, suffered from a rare genetic disorder, Gaucher Disease.
Gaucher Disease is a rare disease that causes fatty lipid deposits to build up in some organs and bones. It results from not having an enzyme, glucoerebrosidase, that breaks down a fatty chemical, glucocerebroside. Fat-laden Gaucher cells build up in areas such as the spleen, liver and bone marrow.
My name is Landon. I was born in Aug. 2014. When I was around 4 months old I kept getting sick. My doctor said it was just allergies,cold,bronchitis,etc. Around 7 months old I got really sick and went to the doctor. I saw a different dr that day and he said to rush me to the hospital that was 2 hours away because they were better equipped.
My body temperature was 92.7. I was very congested and my liver and spleen were huge. Before we left, the dr got my regular dr and reprimanded her about missing everything that was going on. I also had retroflexion and she said it was bad posture. We went to Memorial Health Hospital in Savannah, GA. I had all kinds of drs come in and check and in May of 2015 they found out I had Type 2 Gaucher Disease They started me on Cerezyme treatments in June.
Our Little Miss Hannah was born on July 25, 2008. She was 6 pounds 11 ounces and 19 inches long and looked perfect in every way. Two days after birth, an enlarged spleen and extremely low platelets raised the first hint that our perfect baby had some differences. She was admitted to the NICU for two weeks while medical experts tried to find an explanation for her symptoms. Once the easy diagnoses were ruled out, her daddy and I knew that we were going to fight to get her the best care.
At 5 months old, her liver became involved, and she was diagnosed with Neuronopathic Gaucher’s Disease type 2 or type 3, an incredibly rare and life-limiting genetic metabolic disorder.
Her name is Mckenzie. She is 10 years old now. We are from Newcastle upon Tyne, UK. She was born on time… a bit jaundice when she was born but we never thought anything was wrong. Then from 2 weeks of age she started to develop chest infections constantly; every virus she contracted she would end up getting admitted to hospital.
Then the tests came as a doctor noticed she had an enlarged liver and spleen. She had to have a liver biopsy to confirm that she had Type 1 gaucher disease. Then she started treatment more or less straight away. We had to travel 240 miles from Newcastle to Manchester to a specialist hospital which we still do every year for check ups.