Harper was born on April 14, 2016, at a low birth weight of 4 lbs 1 oz. She was a beautify tiny little baby! We had to monitor her weight consistently and as time went on, she was not gaining weight or showing interest in food. However, her face was swelling and puffing up more and more each day. By June 6, we realized that she had abnormal lab results and was admitted into the Cleveland Clinic with abnormally high blood cortisol, high blood pressure for an adult and abnormal x-ray skeletal findings. It was determined through genetic testing and tissue testing that she should be diagnosed with McCune Albright Syndrome/Polyostotic Fibrous Dysplasia. This includes brown skin changes/marks on the body called cafe au lait marks, bones that are fragile and fracture easily, and an endocrine system that essentially operates on overdrive. This meant that we would face numerous bloodwork/lab tests (we get labs every 1-2 months), x-rays and surgeries. She is 1/100,000,000 in that she was diagnosed initially with neonatal Cushing syndrome, which could not be controlled with medication. With collaboration through the NIH, it was decided that her adrenal glands be removed. She is not on replacement medication every 8 hours for the rest of her life to maintain adrenal function so that she does not go into an adrenal crisis. As time went on, Harper required a G-tube for her feeds as an infant. We are slowly phasing the use of the g-tube out, as she mostly uses it for her daily medications and sometimes a small portion of Pediasure to maintain her daily caloric intake. She has calcification on her kidneys, and when her adrenal surgery was done, we were told that she now has one functioning kidney that grows and functions normally.

With McCune Albright Syndrome, anything could come up at any given time, or nothing, depending on how severe the patient’s symptoms present. Precocious puberty, hyperthyroidism, excess growth hormone, and low blood phosphorus are just a handful of things we were told we could expect, and Harper has slowly been diagnosed and treated medically for each of these. Additionally, Harper’s femurs are severely affected, as is her skull and long bones (both arms and legs) but her legs are the worst. Harper was walking around just before her 2nd birthday, and slowly began to stop due to pain and deformity. It began with her right femur, which we visited a doctor experienced with fibrous dysplasia. He suggested corrective surgery right away, as the angle of the neck of her femur was bowing rapidly, called a Shephard’s hook. We were told that if we did not intervene, it would get worse and would be very difficult to correct. So, in August of 2018, they broke her femur bone to straighten it, put a titanium rod in, and a plate with screws. The following spring, April 2019, we were realizing her left leg was doing the same thing, and the hardware in the right was failing. They did a double osteotomy, which was another rod, plate and screws in each leg. They put a rod in that will grow with her in her right leg, but they could not affix that rod to her left leg due to the condition the bone was in (too soft). In August of 2019, X-rays were showing that Harper would need another corrective surgery on her left leg, as it was at a 90-degree angle, which was causing some pain for her. She was waking up crying of pain, and other days just points to her leg and says boo-boo. She had this recorrected in January of 2020.

Last September 2020, we traveled to Florida to have metal hardware put into each tibia. Harper is currently involved in weekly PT, OT, and speech therapy. She has aquatic therapy every other week as well. Water is Harper’s happy place. While we try to be hopeful she will be back up on her feet again someday with all of the surgeries and therapies, we know that she is the most comfortable and mobile in the water. At our visit to the NIH this summer for Harper’s case study enrollment trip, we were told by experts to keep Harper in a pool 3-4x a week. We have Harper enrolled in aqua therapy through the Cleveland Clinic, but they are only able to see her once every week. This water therapy is where she truly excels and feels confident and comfortable on her feet. We have reached out to ASW Cleveland for help with an aquatic therapy pool for Harper to use all year round. This will strengthen her muscles around the bone and will give Harper the best chance of mobility.

We are so grateful that you gave our story a listen, and we appreciate anything that you could do to help our little girl grow up to have the best life possible.