A Mothers View

Maile ~ Ehlers Danlos Syndrome

The journey to diagnosis of Ehlers-Danlos Syndrome has been not only long, but extremely frustrating.  As a young child Maile enjoyed participating in a variety of activities. She danced, played soccer and gymnastics. She was very coordinated and unusually flexible. When Maile was 5 she became very ill. She was pasty white, bruised and lethargic. Her pediatrician ordered lab work and diagnosed her with leukemia. She was sent to Primary Children’s Hospital for bone marrow aspiration to further diagnose and specify the type of cancer, and determine treatment options. I remember that day as if it were yesterday. I remember the fear as I sat in the waiting area with other parents and their children. Overcome by emotion I went to the bathroom, shut the stall door and cried. The results of the biopsy came back and proved to be inconclusive. The doctors were unsure, but decided on the diagnosis of Juvenile Rheumatoid Arthritis.  She was prescribed medication to help with inflammation. The pills made her stomach painful, yet did not help with pain. The doctor had no explanation for her reaction to the medication. 

Then came the painful and twisted pinky toe, attributed to arthritis, and unresponsive to prescribed anti-inflammatories, acetaminophen, ibuprofen and ansaids. Maile continued to play soccer, and at the end of each game experienced a great deal of pain and fatigue. She retired to her bed and a heating blanket for the remainder of the day.  Soon to follow, Maile quit gymnastics because of pain and exhaustion. Then came the string of fractures and multiple bruises. Her doctors labeled her as “active and accident prone.”

In middle school her symptoms and pain increased. There were multiple symptoms and multiple doctors. Same response, “you are just weird”. She was unable to sleep, frustrated with medical care and intense pain. As a mother it has been difficult to watch your daughter in pain. Feel helpless, sad, and frustrated. Shoulder surgeries and playing tennis with a dislocated shoulder. Her surgical scars widen and atrophy. She heals slowly. Pain and numbing medication affords no relief. 

While playing on the high school tennis team, Maile suffered a dislocated shoulder. This was an outpatient surgery and she was sent home that same day.  Her pain was so intense we ended up in the emergency room. The doctors were shocked at the amount of pain medication that did not touch the pain. She was visibly in shock. After her second shoulder surgery she was admitted to the hospital.  Again she went into shock due to pain. The anesthesiologist said he had never seen anything like it before. He had given her so much medication and it wasn’t touching the pain. 

Maile had her follow up appointment with Dr. Metcalf. While comparing her surgery shoulder with her nonsurgery shoulder, the supposedly good shoulder dislocated. It was at this point that Dr. Metcalf suspected the injury was due to an underlying problem, a collagen deficiency disorder. We were sent to see a rheumatologist at McKay-Dee Hospital. Dr. Shelby Dames, who was condescending, and accusatory. She to Maile that “yes she was flexible and had hyperextension of her joints, but so do a lot of people”. She proceeded to tell Maile that the pain was in her head and she needed an anti-depressant. It was unbelievable how rude she treated Maile. Needless to say this was devastating. There were no doctor appointments for some time after that. 

Maile’s hip was causing her pain and the quickest appointment she could get was with Dr. Blackham at McKay-Dee Hospital. He barely examined Maile and told her she had snapping hip and referred her to physical therapy. Tres Ferrin, physical therapist at Stewart Rehab identified Maile’s hip dislocation and talked with her about Ehlers-Danlos Syndrome. Maile had an appointment with Dr. Scharmann at McKay-Dee Hospital. He recognized the symptoms and put the pieces together. Maile was diagnosed with Ehler’s Danlos Syndrome. From there we began the process to contact Ehlers Danlos specialists in Seattle Washington, and were put on a wait list. Meanwhile Maile’s hip became so painful it was difficult to walk. She saw Dr. West at TOSH and he recommended surgery to loosen the iliotibial band that was catching on the bone. She came out of anesthetic in shock again. Dr. West listened to us and gave her a muscle relaxant that helped calm her body shakes. 

  

Maile’s hand warranted the next surgery. She saw Dr. Gowski at TOSH for her thumb with joint collapse. Pre-operatively we discussed her reaction to pain post-operatively and her need for a muscle relaxant to help with the shock symptoms. Maile came out of surgery and again was shaking all over and shocky. I explained to the nurse that she needed a muscle relaxant Dr. West ordered. The nurse blew us off and said shaking was very common when coming out of surgery and walked out. She soon returned when the monitor visualized her elevated and climbing heart rate.

In the midst of all of these incidences Maile had stroke like symptoms with loss of eye sight. McKay Dee Emergency Room would not address the urgency and sent her to an ophthalmologist. There was concern of a detached retina and stroke and it wasn’t until I demanded to see the Emergency Department Manager that she was seen. Eight hours later, and no answers she was sent home. 

Maile has had nosebleeds, temporomandibular joint dysfunction, inability to sleep and severe exhaustion. She experiences dizziness, impaired vision, memory loss, speech difficulties and passing out. 

After 3 years waiting to see a geneticist, Maile was seen at Primary Children’s Hospital by a new doctor, Dr. Ball. He spent three hours with us. He listened, he validated, he explained, examined, empathized and understood. Other medical providers that have been amazing are; Dr. Julian Allred, Neurologist at the University of Utah, Darin Stratford, OT at Stewart Rehab, and Sheila Savaiinea, massage therapist.

Maile has an amazingly positive attitude which most definitely affects her health in a positive manner. She lives with pain every day of her life, yet continues to live her life and bless her family and friends with her humor, love and laughter. I am grateful to those that care for her, understand and believe her pain and encourage her to keep moving forward.