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 4th, 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 stored fats and carbohydrates. Her blood was 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 was very short in stature. As Emily got older her facial features 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 was only two feet tall and 20lbs. She was immobile due to severe stiffness of her joints. Characteristic to the disease Emily suffered from severe heart failure, and was dependent on oxygen since she was two years old. When she was three she stopped eating and was fed through a gastric tube. Emily was unable to close her mouth due to her large gums. She was able to hold a spoon and "taste" liquid foods. Mentally, Emily was very typical for her age. She was a bright happy child. Over the years Emily adapted to her multiple mouth anomalies and developed her own language. Emily was home schooled due to her susceptibly to catch infections easily. She had survived over 25 pneumonias. In 2002, Emily asked not to be hospitalized anymore. We accepted that Emily was 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.

For more information on the disease please visit the MPS/ML website. http://www.mpssociety.org

Email we received from Emily's family after she passed away:

Dear MACS,

Our family owes the Make A Child Smile Organization a wonderful thank you.

My daughter Emily P. passed away on November 6th, 2004 and MACS was a very large part of her life. She so completely loved receiving cards and gifts from people around the world. Emily was a happy child and all of the attention made her even happier. My wife and I were truly amazed at how many people responded to Emily's story. She was an amazing little one. She taught my family so much about love, life and what is really important. She passed suddenly at home without pain while Mary and I held her. Our hearts weep with sorrow and our souls cry with the pain of the loss. I think that Emily's little sister Macaylie understands this horrible thing better than us grown ups. She talks to Emy every night. She has even implored Santa to take some gifts to Emily in Heaven for Christmas.

Through all of this Make A Child Smile has been there for us and with us. They have even paid for Emily's funeral. My wife and I are forever thankful to MACS for helping with such a heavy financial burden during such a painful and low time in our lives. MACS has renewed our faith in the human spirit and has shown us that there are far more good people out there than the news tells us about. Please know that each of you who helped my family in any way now has a little angel named Emily smiling down upon them.

Sincerely,
Patrick P. (Emily's daddy)