Elsie's Diagnoses Journey

This is hard for me, to let people in my world. To ask for help, as I am not one to fully indulge people in our personal struggles. My daughter Elsie, who is 5, suffers from a rare bone disorder. I was told at 20 weeks gestation that "something is wrong." Leading to an induction at 36 weeks gestation. Elsie was born a worrisome 3 pounds, 15 ounces and has failed to grow onto the growth charts since. We have been relentlessly trying to get to the bottom of since the day she was born. Even with the help of over 7 Boston Children's Hospital specialists, we have been unsuccessful at accurately diagnosing her. Please help me get her the care she needs, the diagnosis that we have been searching for. The end to our poking and prodding and hospital visits. It's time we have some answers and some hope for a more normal future! 
If you are able to contribute, I will be eternally grateful. And if you are not able, but can find it in yourself to share for our cause, we would appreciate that as well. Thank you from the bottom of my heart!


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A LITTLE OF ELSIE'S STORY

Most of you that know Elsie, know her sweet, silly, compassionate little personality. My social little butterfly, who makes her presence known where ever she goes! 

Though, what most of you don't know, are Elsie's every day struggles. She was born with an extremely rare bone condition. She has seen Dr. upon Dr. in this journey of trying to diagnose her. She has had hundreds of genetic testing, xrays, MRI's, you name it. My 5 year old has spent equally as much time in Dr's offices, as she has playing at home. 

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We were recently given a "clinical diagnosis," as all other attempts have fallen short. They are calling this Epimetaphyseal Skeletal Dysplasia. To help better understand, the diagnosis broken down, means, "Relating to" "function of" "abnormal growth or development." This means that the growth of her bones are abnormal, not only in shape, but in size. But there is little, to no other supporting information.

Abnormal, yes we know her bones are abnormal. But what does this mean for her future? We are told to expect Elsie to be a little person. To "give her tylenol" for her pain. And to back off of her physical therapy. With a long list of physical restrictions.  And finally to expect a life time of joint replacement surgeries.

Elsie currently wears foot orthotics (braces) to stabalize her feet so she can walk. She suffers from early onset arthritis, primarily in her hips and knees. This creates pain to the point where she is unable to get herself out of bed some mornings. So today we received her first wheel chair, to help her not miss out on school and other opportunities when she is unable to walk. 


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Due to my own research I have found Dr William McKenzie, World renowned pediatric orthopedic expert, in Delaware. We have been anxiously awaiting our two upcoming appointments in May and June. 
Unfortunately due to out of state insurance issues they may not cover our visit. Leaving us to pay entirely out of pocket. 

We would like to have this in depth examination of Elsie from a specialized pediatric medical professional, with valid supporting evidence. A glimpse of what her future might hold. Some answers to our questions and concerns of her life long search. Recommendations for strengthening/preserving her joints and ways to minimize her pain. 

WHERE THE DONATIONS WILL GO

Toward flights/rental car/ travel accommodations

Out of pocket expenses after insurance

Future medical devices

Short stature accessibility tools

And future procedures 

Thank you so much for your time and contributions! You'll never know how much this means to our family!


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Donations

 See top
  • Stacey Summers 
    • $50 
    • 28 mos
  • Anonymous 
    • $50 
    • 29 mos
  • Tabitha B 
    • $30 
    • 29 mos
  • Ann Douvris 
    • $30 
    • 29 mos
  • Jen Cotter 
    • $30 
    • 29 mos
See all

Organizer

Ashley Mcneil 
Organizer
Lowell, MA
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