Hi, my name is Kendyl.

I am the mother of Klacee. Our girl is the youngest and last of our children. She has had a rough 1st year of life that is only expected to get worse and despite all of her health problems she is the sweetest and most quiet girl. She has truly brought a special light to our family. Here is her medical journey that led us to her dreadful diagnosis.

Klacee was born July 6, 2023 and at the age of 3 months Klacee was hospitalized after she stopped breathing. They did a lot of tests and found she had an enlarged liver, spleen, unexplained cloudiness in her lungs and crazy blood work. She had a week long stay and was discharged under the care of a pediatric hematologist/oncologist. For months they repeated the same x-rays, ultrasounds and blood work without answers. She then was hospitalized again for vomitting blood, this time they brought in more specialists, GI Drs, Pulmonologist, Infectious Disease Drs and a referral to a Geneticist (7 hrs away). We waited months for a virtual visit with the geneticist, so in the meantime infectious disease did test after test and still no answers. Klacee’s lungs got better and so did her liver, her blood work went back and forth but her spleen has continued to grow. In August we got a positive result for an Immune disorder called C2D, which is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. C2D has common infections of sepsis (blood), pneumonia (lungs) and meningitis (brain). Then in September/October we had our virtual visit with Genetics, they decided on what tests to run first based on symptoms and send out an oral swab that we did and sent back. In October we got the results that have shattered our world. Klacee was also diagnosed with a rare genetic disease called Niemann Pick Disease type C. NPC is a rare, fatal, and autosomal-recessive disorder that affects the nervous system and other organs. NPC results in progressive loss of nervous system function by affecting the membranes of nerve cells. Symptoms vary widely and include, Enlarged liver and spleen (hepatosplenomegaly), Difficulty coordinating movement (ataxia), Abnormal eye movements (vertical supranuclear gaze palsy), Poor muscle tone (hypotonia), Severe liver disease, Frequent respiratory infections, Difficulty with speech, Difficulty with swallowing and feeding, Loss of cognitive skills and Seizures. Symptoms become more pronounced over time. Progression is more rapid if the disease starts earlier in life. A child who shows signs of type C before age 1 may not live to school age.

Our family has a long road ahead of us, which will include travel to Salt Lake City, Utah, Sacramento, California and possible other locations for treatment as most her appts are in other locations. Klacee will be starting a couple “therapy drugs” just developed that will hopefully slow the progression of her disease. She will also see an eye specialist, early intervention to help with speech, mobility and other things that she needs to help her the best we can in whatever time we have with her. Our family owns a small landscaping business and any trip, hospital stay or doctor appt keeps us from work. Any little bit helps with traveling, living and hospital expenses for this long unknown journey. We have no idea what her treatment will all consist of or what to expect.

We truly appreciate any and all of you who, donate, pray or even took the time to read her story