Welcome! Thank you for allowing us to share Kaila’s journey.
- David, Jennifer, Kaila and Collette
Kaila has Niemann Pick Type B, a genetic disease that does not allow her body to produce enough of an enzyme to effectively break down fatty lipids in her body. Below is our story.
In October 2012, Kaila’s mother, Jennifer, took Kaila to the doctor’s office for what she thought was an ear infection. The pediatrician felt Kaila’s spleen leading to a trip to the hospital for an ultra sound, x-rays, and blood tests. The ultra sound revealed an enlarged spleen and liver, the x-rays were cloudy, and the blood test results were extremely abnormal. Kaila’s parents were originally told Kaila tested positive for children’s mono; however, one week later they were told she did not have mono and something else was wrong. After four months of daily/weekly blood tests, visits with a hematologist, a hepatologist, a pulmonologist, a cardiologist and metabolism, and further negative test results for leukemia and other diseases, her parents found a rare disorder online with Kaila’s symptoms.
Kaila's parents asked the doctors to test for Niemann Pick eventhough the odds were astronomical. Kaila tested positive for Type A or B (unknown at the time of diagnosis) on January 30th, 2013, and both her parents, independently tested positive as gene carriers on January 31st, 2013. To be afflicted with the disease both parents must carry one bad copy of the gene and then there is a one in four chance that their offspring will have the disease. At the time of diagnosis the doctors provided Kaila's parents with numbers to call as there was little information available about the disease.
Kaila's father, David, tested positive as a carrier for Niemann Pick Type A, which is terminal typically by 4 years of the age; and Kaila's mother, Jennifer, tested positive for a milder and lesser tested form of Niemann Pick, Type B, which can be terminal in early adolescence or adulthood. Jennifer's milder gene allows Kaila to produce approxiametly 10% of her deficient enzyme, just enough to keep her alive, but with some complications.
Kaila looks like any other child and is generally healthy. She loves to draw, swim, dance, and play with friends, but due to her disease, Niemann Pick Type B, she has a distended stomach due to her spleen being 8 times larger than normal, and extremely high cholesterol and triglyceride levels, which at one-time hovered around 450 mg/dL (200 mg/dL is considered high). Additionally, she suffers from interestial lung disease. Her parents do not limit her activities, as she takes both ballet and swim lessons, and is an active participant on the playgound.
Kaila is currently entering the first grade, and is very eager to learn. She has written a book about her life, and loves to tell stories and make up games. She is full of life and enjoys digging up insects and worms, and hunting the ocean for snails and jelly fish.
© 2015 Kaila's Way, Inc.