^^Angel^^ Emily P. - Quilt Finished in 2005
December 4, 1997 - Passed: November 6, 2004
Illness: Mucolipidosis Type 2, Dwarfism, Heart failure
Thank you from Emily's Family!
written by mom Mary
We received the quilt. It is so beautiful I can see the time and love everyone put in each square. Emily would have loved it. I can picture her scooting all over the quilt telling us "look look at this," the first thing Macaylie wanted to do when it arrived was wrap herself in it. It was a surprise to us to see that my aunt Mary had made a square, it makes the quilt that more special. Thank you so much to everyone for their time and love.
Mary, Pat, and Macaylie and Angel Emily
Emily's Story
written by mom Mary
Emily was diagnosed with Mucolipidosis Type 2 (I-Cell) when she was 2½ months old. Emily's story starts even before she was born.
My pregnancy with Emily was very difficult. At 16 weeks gestation my prenatal labs were elevated and I was sent to see a genetic counselor. At the office I had my first of many ultrasounds. We were told our daughter appeared to have a form of Dwarfism. She had many genetic markers, low amniotic fluid and high cord pressures. We went back at 20 weeks gestation and were told the devastating news Emily had an "unknown" terminal form of dwarfism. We were also told her placenta may fail at any time and I must have an ultrasound every 72 hours. Emily's placenta failed December 4, 1997. She was born by emergency c-section that day. We only expected her to live through the night.
I-Cell disease is a very rare inherited recessive genetic disease, occurring in one in every 650,000 births. Emily's cells store fats and carbohydrates. Her blood is missing the enzymes to break down the material. The incompletely broken down carbohydrates remain stored in the cells, causing progressive organ damage. All the children with the disease have similar appearance. Emily is very short in stature. As Emily has gotten older her facial features have hardened, called the Gargoyle Effect. Gingival Hyperplasia or thickening of the gums is characteristic to the disease. Also unique is the slow clawing of the hands. I-Cell kids suffer from many complex health complications including frequent upper respiratory infections, asthma, pulmonary hypertension, cardio myopathy, enlargement of the organs, sleep apnea, thick tongue and heart failure to name a few. I-Cell is a devastating progressive disease. Children with the disease often pass away during their first decade of life.
Emily is only two feet tall and 20lbs. She is immobile due to severe stiffness of her joints. Characteristic to the disease Emily suffers from severe heart failure, and has been dependent on oxygen since she was two years old. When she was three she stopped eating and been feeding through a gastric tube since. Emily is unable to close her mouth due to her large gums, she is able to hold a spoon and "taste" liquid foods. Mentally, Emily is very typical for her age. She is a bright happy child. Over the years Emily has adapted to her multiple mouth anomalies and has developed her own language. Emily has been home schooled due to her susceptibly to catch infections easily. She has currently survived over 25 pneumonias. At this time Emily is receiving palliative/hospice care. Two years ago Emily asked not to be hospitalized anymore. We know and accept that Emily is now in the end-stage of her disease.
Despite all the challenges we have faced we feel very lucky to have had Emily. Emily was our angel in waiting. I feel she came to us to teach about love and acceptance. Since the moment I knew she existed I knew she was borrowed. Everyday she was with us was a miracle. We cherished all her milestones and accomplishments no matter how small. She has taught me there is a bigger picture to life. I don't sweat the small stuff anymore and take nothing for granted.
In the middle of October 2004, we were able to have a wonderful family trip to Disney World. Emily and Macaylie had a wonderful time. Emi had some trouble with respiratory failure while on vacation, despite that Emi and our family had an unforgettable time. Emily did well for a few days when we returned home. She even did a little trick or treating on Halloween. She was a ghost!
Emily was having some mild respiratory and heart problems a few days prior. It wasn't anything we were too excited about. Then on November 5th she was having more difficulty. We drew some labs and found out her bicarb level was critically high. Her lungs were failing. That night she was huggy and tired. Her oxygen level was low so I told her she would have to wear the oxygen mask to sleep. She told me "Yeh, good night night." Her oxygen level was normal after we placed the mask on. She said good night to all of us and rolled over and went to sleep. I checked on her at 4am and her dad checked her at 7am. She was doing fine. By 9 o'clock my other daughter woke me up telling me Emi wouldn't wake up to play with her. Emily was unresponsive, cool and clammy. A few hours later her pupils were fixed and she responded to nothing, not even pain. We held her all day. Emily passed away at home with her family at 6:30pm on November 6th, 2004.
After reflecting, Emily was ready. She saw Disney World once more and had a great time. It was a blessing for her and for us, it happened so suddenly. The best gift we have is that we have no regrets. If we wanted to do something with her, we did!! We spent everyday of her life like it was her last. She stayed with us as long as she could and not one second longer. We love her and miss her horribly. We know we will meet her again in the other life.
Written by Emily's mom Mary
