Good Days

Today I woke up at 5am to go to work. Normally waking up at 5 and functioning is a task for me. I try and keep my eyes open while I drive to work. I get to my desk and find myself trying everything to keep my eyes open. I feel like this throughout the day. Foggy and exhausted. Not today. Today I woke up and went to work and was alert and awake. Yeah my body was hurting and I had a long day ahead of me but it was the first day in months that I actually felt somewhat normal. With the good days come the bad. Unfortunately the feeling of being normal didn't last the entire day. My body finally gave in to the pain. Although the good day didn't last very long, these are the times that I look forward to. Those few hours of feeling normal is what gets me through the months of bad days. 

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. 

                                                                                                                                     

My Story

When I was younger I used to do Gymnastics, ballet, soccer, basketball and softball. I noticed that I didn't have as much energy as the other kids. I was constantly spraining my ankles and wrists and was always covered in bruises. I ended up quitting everything and just stayed in bed because I was always tired and in pain. Walking became painful. Going to school became painful. Functioning became painful. After many doctor appointments I ended up at Primary Children's. They thought that I had Leukemia. They took bone marrow and tested it. The doctor told me it was not Leukemia and that my blood work didn't make sense and that he had no idea what was going on. We settled for the diagnosis of Juvenile Rheumatoid Arthritis. Once I joined middle school my symptoms became worse. I was constantly in pain and doctors just looked at me and said "I don't know. You're just weird". I never got any answers as to why I was feeling like this. In High School I joined the tennis team. My Freshman year I stepped wrong on the court causing a slipped disc, doctors couldn't explain how simply stepping wrong could cause that. My Sophomore year I hit a ball and dislocated my right shoulder. They tried to pop it back in but it wouldn't stay. I met with multiple surgeons in Ogden and no one knew how to fix it. I finally found Dr. Metcalf at TOSH. He told me that my labrum was shredded and that I needed surgery. I had surgery in Dec 2010. He told me that with normal tennis injuries like this there was less than 10% chance that my shoulder would come out again. I was cleared to play tennis my Junior year after months of physical therapy. I made it through my entire Junior year season with little problems. A few months later I was putting my backpack on and my shoulder popped out through the back. I went back to Metcalf and he told me I would need another surgery and that I would not be able to play tennis after that. I played my senior year with my shoulder dislocated and help together by KT Tape. I got my second surgery in Dec 2012. He drilled in to my bones and put anchors in to provide more stability. Normally after a shoulder surgery you are in a brace for 4-6 weeks. He put me in my brace for 12 weeks because he wanted me to have more stability. During one of my follow up appointments he went to compare my range of motion and ended up popping out my other shoulder. He then realized there was something bigger going on than just a tennis injury. I went and saw a Rheumatologist at Mckay Dee Hospital. Dr. Dames examined my joints and we found that my joints were all loose and hyper extending. She then began to tell me that all of the pain was in my head and that I was just flexible and that I was being a hypochondriac. She tried to put my on an anti depressant. I knew my pain was real. After that I didn't go to doctor appointments for a while. I was tired of being told that I was crazy. That it was all in my head. That I was a depressed hypochondriac. It wasn't until almost a year later that I ended up seeing Tres Ferrin, a physical therapist because my hip was dislocating. He told me that he had read about an illness called Ehlers Danlos and that my symptoms reminded him a lot about it. I went and saw Steve Scharmann and he did the beighton test and I scored 100% on it. That day I was diagnosed with Ehlers Danlos Syndrome. At first I was relieved that I had a diagnosis. I wasn't crazy! I wasn't making it up! But with this diagnosis came very frustrating and complicated doctor appointments because very few doctors know about this illness. I was in and out of the ER for fainting and neurological problems that presented like a stroke, but doctors had no answers. All of these scary things were happening to my body and no one knew why. They all just said "I dont know enough about Ehlers Danlos to know what this could be". It's frustrating because you are supposed to trust doctors with your care. How do you trust someone to care for you when they have to go in the back and google EDS? In Oct of 2015 I had a hip surgery done by Dr. West at Tosh and has a hand fusion done in August of 2016 by Dr. Gowski. While I am still trying to find answers for my neurological problems and while I have run into a lot of doctors that do not know anything about EDS, I have found some amazing people that have helped me. The most important thing to me right now is patient care. More doctos need to be educated. More doctors need to be able to have the education and ability to help people like me, because we cant do this on our own. A huge thanks to all of the amazing people that never doubted me when I said that something was wrong. Thank you for believing me and educating yourself on EDS and helping me manage this illness and live my life the best I can. 
Dr. Ball- Geneticist at the U
Dr. Scharmann-Sports Med at Mckay Dee
Tres Ferrin-Physical Therapist at Mckay Dee
Darin Stratford-OT at Mckay Dee 
Sherri Duft-Physical therapist at Sundance Physical Therapy
Clay Sniteman-Physical therapist at Sundance Physical Therapy 
Sheila Savaiinaea-Massage therapist
Dr. Metcalf-Shoulder surgeon at TOSH
Dr. Hugh West-Hip surgeon at TOSH
Dr. Gowski-Hand surgeon at TOSH