Niemann Pick Type C (NPC)
Carley Mack's Bio
Hello my name is Victoria and I want to introduce you to my daughter, Carley. Life has been a long hard journey for Carley. Born October 26, 2008 doctors extended her time at the hospital, as she was jaundice. At her 6-month checkup she was referred to a specialist for an enlarged spleen. She was monitored every 6 months to make sure her spleen wasn’t holding toxins and becoming an extra issue for Carley. By the time Carley entered Kindergarten we were seeing signs of ADD. Carley’s Doctor at the time was not convinced and sent us to another specialist. 2 years later and a hand full of different medications, including seizure medication for high brain activity, we were left with no answers and just a bunch of “I don’t know” and “let’s try this”. Eventually, in 2015, we were referred to another specialist in Maryland, at Johns Hopkins, in 2015 (we lived in VA at the time). Since we were spending a lot of time driving back and forth from VA to MD, looking for answers we decided to relocate to MD to be closer to this specialist.
In December 2015, she was admitted for 5 days to narrow down what was going on as things were getting worse, but still no answers. After those 5 days, we were still left with an “I’m not sure” but we were on a better path. With an update to her seizure medication, we saw improvements. Things were starting to look up! Carley went from not being able to write her name, to being able to without much help. Not too much time went on until we started to see regression again, worse than before. We increased meds, and it helped some but still were still having multiple issues. Then in 2017 Carley lost the ability to move her eyes up and down without the tilt of her head. With that, the specialist at Johns Hopkins consulted with a genetics specialist. In June of 2017, we were called in to see the genetics doctor and she started to explain this fatal genetics disease, that she was almost certain Carley had. In my head, I was like 500 cases and my child has this! No, this is another misdiagnosis like the last 10 times. We had to wait for the test results, longest 4 weeks of my life.
In July of 2017, Carley (9 years old), was diagnosed with Niemann-Pick Disease Type C. This disease is terrible and there is no cure. We can only treat symptoms as they arise. We try to take one day at a time. A component of Niemann-Pick disease weakens the muscles making it difficult to walk, swallow, and talk. Currently, Carley is going to occupational therapy, physical therapy, and speech therapy all to help her muscles stay functioning. She takes an experimental drug to help slow muscle deterioration. So far, she has been fitted for a custom stroller, for the days when it’s hard for her to walk. She received Ankle Foot Orthosis (AFO) leg braces on April 23rd. AFO leg braces are designed to provide support for people with the inability to lift their foot up due to paralysis of the anterior leg muscle group.
In July, she will also receive a Dynamic Movement Orthosis (DMO) body suit. This suit is designed to align the shoulders, torso and hips. The DMO Suit gives a non-restrictive and highly effective level of support to maximize postural stability and help her engage her core muscles. It will be worn every day, all day. Unfortunately, there will come a point that she will lose her ability to walk and be confined to a wheel chair.
Due to Carley’s severe lack of appetite, feeding and swallowing delay, and general fatigue, it is becoming difficult to eat. After recent trips to NIH, National Institute of Health, supplemental feeding by tube may be recommended as soon as mid-July. She will eventually lose the ability to talk, “which right now is one of her favorite things!” Carley has a very bubbly personality and has always been a little girl who is high spirited and has a lot of energy! Carley not only has NPC, which causes a number of medical issues, she also has Cataplexy, which is where the body goes limp with strong emotion such as laughter. It causes her to suffer sudden physical collapse, though remaining conscious. “Basically, when she laughs she falls in a pile like a wet noodle. Which can be a little dangerous for her if you don’t catch her fast enough.”
As her mom, I continuously encourage Carley, “I know you are fighting your hardest fight and aren’t going to give up! You have a crowd behind you cheering for you and I couldn’t be more thankful for those people.” We want to thank everyone in advance for anything you can do for Carley.
About Niemann-Pick Disease Type C
Type C Niemann-Pick Disease has an estimated 500 cases diagnosed worldwide. NPC is a rare progressive genetic disorder characterized by an inability of the body to transport cholesterol and other fatty substances (lipids) inside of cells. This leads to the abnormal accumulation of these substances within various tissues of the body, including brain tissue. NPC is highly variable and the age of onset and specific symptoms can vary from one person to another. NPC affects neurologic and psychiatric functions, as well as various internal organs. Symptoms arise at different times and follow independent progression. NPC is always fatal.