Khloey's journey began after 10 hours of labor. At a tiny 5 pounds, 15.9 ounces and 17 inches, our beautiful baby girl was a happy addition to a family with three older sisters and loving parents. She presented healthy and happy at birth. All in the Allen household was complete with the addition of this tiny bundle of joy. There was no reason to suspect what lay ahead for our family.
At her 1-year-old checkup appointment just 10 days after her first birthday, April 27, 2011, her doctor discovered Khloey had developed a significant heart murmur. Initially, the doctor thought the murmur was a result of the weaning from breast milk to whole milk, with what appeared to be iron deficiency. Doing some quick thinking, nurse practitioner Rebecca Richardson, C.R.N.P., decided to run additional lab work. We were sent home thinking we needed to add iron supplements to resolve the murmur.
Within a few short hours, we received a life-alternating call at home from her pediatrician, Robersteen Howard, M.D. She informed us that Khloey's hemoglobin was a critical 3.6g/dL and Hematocrit was 7 percent. We were sent directly to Children’s Healthcare of Atlanta for a full workup to rule out leukemia. She underwent a bone marrow aspiration, which revealed it was not cancer. She received her first blood transfusion during that admission. After weeks of tests and a second bone marrow aspiration, the diagnosis was acquired bone marrow failure. We were told she did not produce bone marrow, which produces the blood required to maintain life. She would need a transplant and, although risky, if successful, it would be lifesaving. As with any transplant workup, doctors must rule out any and all other possibilities. Awaiting all the genetics results, we felt confident we would find a match and that Khloey, her mother and I would be spending a year in Boston for the transplant and recovery process. We moved ahead with a port placement for access for the many transfusions that lay before her and the surgery itself.
July 15, 2011, as we sat with our baby as she recovered from her surgery, her hematologist-oncologist, Marianne McPherson Yee, M.D., entered the room with the tragic diagnosis of Pearson’s marrow-pancreatic syndrome with the poor prognosis that it was ultimately terminal. Our lives were forever changed in a just a few moments. We went from the thought process of cure to no cure, only treatment of symptoms. The syndrome is an extremely rare and spontaneous mitochondrial disease. There have been only 80 known cases worldwide since the first diagnosis in 1979. The mitochondrial DNA is considered the powerhouse in your body. This disease affects multiple organ systems, and involvement varies from patient to patient.
Then, as now, Khloey's main issue is that she doesn't make her own blood and is dependent on monthly transfusions. Her body is unable to absorb the iron from the donors’ blood; therefore, it accumulates in the liver. She had presented with an iron level of 11.7. The treatment to remove the heavy metal from the liver is called chelation therapy. At this point, the treatment has been difficult for her to manage, causing abdominal pain, nausea and vomiting. Her liver is not removing the heavy metals, leaving her liver in overload, which can lead to liver failure. She is considered “failure to thrive” because of her low weight and paleness in color. She bruises very easily and is susceptible to a metabolic crisis from anything from a common cold to a urinary tract infection, any of which can put her in crisis mode and lead to her death. It is considered a progressive disease that can lead to deafness, blindness, pancreatic insufficiency, diabetes and neurological disturbances such as seizures.
We spent the first year relatively stable on the monthly transfusions. During these past six months, she has endured multiple hospital admissions and has lost kidney function. Her left kidney is functioning only at 37 percent and is showing signs of pancreatic insufficiency. The initial life expectancy was presented to be between the ages of 3 to 5. If she can surpass this timeframe, the disease transforms to Kearns-Sayre Syndrome, with the loss of coordination and development of mental retardation, cardiac conduction abnormalities and episodic coma. With her recent weight loss and intolerance of the medications, she needs to maintain quality of life. We are in the process of being evaluated for G-tube placement in order to supply medications and additional nutrition.