Ever since Amilee’s birth in February 2018, she has had a rough go at life. She has been sick more times than not. She was first hospitalized 2 days after her birth for hypothermia. Amilee endured many tests, including a spinal tap, but in the end, it was determined that she did not have enough brown fat to keep her body warm.
In June 2019 at the age of 17 months, she was hospitalized again following many illnesses and low blood counts. At the hospital she endured many tests including an ultrasound of her spleen which was one of the biggest doctors have seen in a child her age. All of the tests came back negative for any viruses or bacterial infections. Amilee was diagnosed as anemic and received multiple blood transfusions during that hospital stay. She was also diagnosed as Immunocompromised.
During that two-week hospital visit, we were informed that it was best that she not be around a lot of people (since she does not have a good immune system), not go out in public often, and wear a mask everywhere she went (this was before we were all wearing masks because of COVID-19). That meant that she should not go to daycare, not play with other kids, and not have a “normal” life like most 1-2 year olds.
She was hospitalized four more times for having a weak immune system and a “cold.” Her hematologist suggested that we go see a genetic doctor for some genetic testing since everything else under the sun was ruled out. Amilee was seen at Greenwood Genetic Center in October of 2019 where they did more blood work (a lysosomal storage disorder gene panel and another gene panel.) Dr. Curtis Rogers also decided to test me and her father to be able to compare genes.
In December of 2019, I received a call to come into the clinic at Greenwood Genetic Center because they had found an answer! We were amazed that there was finally an answer. At the clinic, we learned that Amilee has PIK3CD Disease or APDS (Activated PI3K Delta Syndrome) and that this disease was VERY rare. There are only a couple of hundred cases in the world, and it is even hard to find information about this on Google since it is so rare. There is not yet a cure, but there are studies every day being conducted.
We were then referred to MUSC in Charleston to see the infectious disease doctor who had studied this disorder at the NIH or National Institute of Health in Maryland. We feel so lucky to have such expertise in SC.
In February 2020, we went to see Dr. Williams at MUSC, the immunologist, where we learned that a bone marrow transplant could ultimately cure Amilee. The plan was to bring Amilee back down in March to see the transplant doctor, then COVID happened. Recently, we went back to Charleston to meet with the transplant doctor, and they were floored. The doctor said that they want to get the transplant done as soon as April 2021. Amilee will have to undergo chemotherapy treatments and then she will get the transplant. She will be in the hospital at MUSC for up to 3 months, and because of all the follow up appointments, we will need to stay in Charleston for a year.
When we can come home to Greenville, we will still have to keep a close watch on Amilee. She will not be able to go out in the sun and play, she will not be able to be in the grass, and her food will have to be prepared differently for at least 100 days. The whole transplant process is a big change for us, but we hope that after all is said and done, Amilee will be able to play with other children for the first time ever and not have to worry about getting sick and will even get to go to public school.
Amilee is a very strong, sweet child that has become accustomed to getting blood drawn and being in and out of doctors’ offices. This is something that most adults would struggle with, but I am so proud of how she has handled this disease.