Kevin's Comeback from Gorham-Stout

Welcome!  This account is being established to raise money for the on-going medical expenses and extensive rehabilitation of an active 13 year old, Kevin McDonald or also affectionately known as K-Mac, who has been struck by an extremely rare bone disease as well as raising an awareness to this medical mystery. Below is a personal note from Kevin, a written journal of his journey thus far, and the small amount of educational information known about Gorhams-Stout Disease. We hope & pray this smart, well-mannered, athletic, young outdoorsman will continue to have a positive response to treatment while also working towards rebuilding his leg and lower extremities which will require years of extensive rehabilitation. We ask that you take a few minutes to read this and give consideration to helping this young man overcome this mind boggling, mystery disease.  

Thank you in advance! 
Kevin's Krew


A note from Kevin. . .

What’s up, I’m Kevin McDonald. I’m a typical 13 year old that loves any sport that involves a ball…baseball, football, basketball. I also love to hunt and fish…boy, do I have a fishing story for you! When I was 11 years old, I never thought I would be in the situation I’m in today. Why, you ask? Well, I was hanging out with my friend, Mark, when all of the sudden I picked him up and my right femur snapped. After seeing what felt like a million doctors, only one determined the true disease. What’s that disease, you ask? It’s called Gorham-Stout Disease. You’ve probably never heard of this because it’s very rare; there are about 200 cases reported, me being one of them. It affected the strongest bone in my body, the femur. Did you know the femur can hold up a car? That’s insane, I think. I have been immobilized to crutches and a wheelchair for the past year. I know that if I make one wrong move, it will snap. Trust me, it has happened twice since the initial break. It may not look that bad visually, but if you were there with me throughout the last year and a half of this battle, you would understand.

Kevin’s Story. . .

Kevin’s journey with Gorham-Stout Disease began on September 21, 2014 while hanging out with a friend. A simple bear hug of his buddy resulted in an ambulance ride to Children’s Memorial Hermann Hospital with a displaced broken femur. This began the mystery of how the strongest bone in our bodies snapped without trauma. Initially, doctors theorized a bone infection as the cause, but Kevin displayed no other symptoms. During his 2 week hospital stay, he was seen by orthopedics, infectious disease, oncology, vascular anomalies and pediatrics. All test came back normal and cultures came back negative for bone infection, so he underwent surgery. The femur started to heal and x-rays looked great initially.

January 2015, we started to notice bruising and pockets of swelling. At that point we were referred to hematology, findings there showed anemia and low vitamin D, but no answers as to why the bruising was appearing. Cystic lesions were also forming under the skin causing "lumps" in right thigh, knee and back of thigh.

February 2015, tests showed inflamed synovium and increased lymphocytes.

March 2015 a battery of test were performed that ruled out rheumatological issues and metal allergies.

April 2015, we started to notice changes in the x-rays of his femur. We were sent back to Hematology to follow up. Hematology then referred us to the vascular anomalies team at Children’s Memorial Herman. We met with that team on the 16th of April with no results. Fever started the following day, resulting in him being admitted into Children’s Memorial on April 18th. An MRI was completed that evening. Due to MRI findings, orthopedics removed his plate April 19th. Kevin remained in hospital due to being diagnosed with pneumonia. While mom was holding Kevin's leg in shower, femur re-fractured on April 23rd. On the 24th of April, Kevin underwent surgery to stabilize femur with another external fixator, general surgery team also removed enlarged lymph nodes from his groin to send off for biopsy.

May 2015, orthopedics referred us to Orthopedic Oncology for evaluation. They referred us to Texas Orthopedic Hospital where a bone biopsy was performed to look for infection again. Results were negative. The pin sites began blistering so orthopedics removed the external fixator and placed Kevin in a brace to help stabilize his leg.

July 2015, we saw a pediatric dermatologist at Texas Children’s along with Hematology/ Oncology. They reviewed all imaging and slides from biopsy in May, where they were confident that Kevin did not have a bleeding disorder, cancer, or a vascular malformation. She referred us to Pediatric Infectious Disease. Infectious disease team believed Kevin may have an auto inflammatory condition causing his bone and knee findings. In mid-July, Kevin fell on his crutches and the femur fractured again, above the previous breaks. Kevin was put in a knee immobilizing brace to help keep his leg stable.

August 2015, we were recommended to see the Co-Director of Vascular Anomalies, who ordered genetic testing. All results for periodic fever syndromes came back normal.

September 2015, we went back to Texas Children's to see the new chief of orthopedics. He reviewed previous imaging with his team and was confident of a Gorham Stout Lymphangiomatosis diagnosis. He recommended a DEXA bone scan and to consult with a professor in the department of molecular and human genetics at Baylor College of Medicine who also leads the Undiagnosed Disease Network. He agreed with the Gorham Stout diagnosis and ordered whole genome and exome sequencing, which we are still awaiting the results.

January 2016, we met with Oncology at TCH-West Campus where Kevin was started on a treatment of Sirolimus tablets, Bactrum, and had an infusion of zoledronic acid. Kevin is responding well to these medications and we are hopeful for continued results. Due to all of the trauma and the amount of time that has passed, Kevin’s rehabilitation is requiring extensive aquatic therapy.

What is Gorham-Stout Disease?

Gorham-Stout disease (GSD), which is also known as vanishing bone disease, disappearing bone disease, massive osteolysis, and more than a half-dozen other terms in the medical literature, is a rare bone disorder characterized by progressive bone loss (osteolysis) associated with the overgrowth of lymphatic vessels. Affected individuals experience progressive destruction and resorption of bone. Multiple bones may become involved. Areas commonly affected by GSD include the ribs, spine, pelvis, skull, collarbone, and the jaws. Pain and swelling in the affected area may occur. Bones affected by GSD are prone to reduced bone mass and fracture. The severity of GSD can vary from one person to another and the disorder can potentially cause disfigurement and functional disability of affected areas. The exact cause of GSD is unknown.

Bone is a dynamic system continuously engaged in a remodeling process of resorption and formation. Bone resorption refers to the breakdown of bone followed by the formation of new bone. This is a normal and continuous process in the body. In individuals with GSD, affected bone is broken down, but no new bone growth occurs. Basically, affected bone disintegrates and is replaced by a fibrous band of connective tissue.

It is not precisely known what drives bone loss (osteolysis) in GSD. Some research suggests that bone destroying cells known as osteoclasts rather than lymphatic vessels drive bone resorption.

The exact cause of Gorham-Stout disease is unknown. No environmental, immunological or genetic risk factors that may play a role in the development of a lymphatic malformation have been identified. A genetic mutation for GSD has not been identified. Most cases occur randomly for no known reason.

The specific reason(s) that GSD develops is simply not well understood. The underlying cause of abnormal vascular and lymphatic tissue growth is also not understood. More research is necessary to determine the exact cause and underlying mechanisms that ultimately result in GSD.

Gorham-Stout disease usually affects children and young adults under the age of 40. Some medical sources state that males are affected more often than females. Other medical sources state that the ratio is even (1:1). More than 200 cases have been reported in the medical literature. Because GSD is so rare, many cases go undiagnosed or misdiagnosed making it difficult to determine the disorder’s true frequency in the general population.

There is no specific treatment of individuals with GSD and no consensus in the medical literature as to what is the most effective therapeutic option. Treatment is directed toward the specific symptoms that are apparent in each individual. Although there is no standard protocol for these patients, clinical trials are under development. Surgery and radiation therapy either individually or in combination are the two most commonly used therapeutic options. According to the medical literature some individuals with Gorham-Stout disease have been treated with medications that inhibit bone resorption including bisphosphates such as pamidronate or zoledronic acid.