Welcome to Our Sweet
Emily's Page

Woo Who Woo Who Hoo! Emily
is lots of fun to be around!

Meet Lime, Emily's Guardian friend

Lime follows Emi to all her doctor visits and keeps
her safe when Mom isn't around. Emily tells me Lime
rips up tissue and throws her babies on the floor. I
have difficultly believing that, I think Emi and Lime
do mischievous things together. Emily and lime talk
each other to sleep every night, or all night long!!

Emily's Story

Emily was born on Dec 4th 1997, by emergency c-section. she was
34 wks gestations and had endured a difficult pregnacy. The fetal
maternal doctors told us at 29 weeks gestation she had an unknown
terminal disease. They believed she would only live a few minutes or
hours if we were lucky. We thank God for the 4 yrs years we've had

Emily was diagnosed with mucolipidosis II (I-Cell) at 8 wks of age
The genetist had given us alot of information on the disease, but
husband and I had researched the disease process prior to that day.
We had to get our family's together and tell the devastating news.

Mommy & me

Emily did very well for the first two years of life, and then stopped
growing at 18 months which is very characteristic of the disease
At 2 months of age we needed to have several therapists come to
our home to provide physical, occupational, speech therapy services
three days a week. Emily has been slow to reach her age appropriate
mile stones. As Emily has been our gift, we enjoy every attempt she
makes to do something new or to master what she has already done.
As we are excited and thrilled with every success, she herself is very
proud of each accomplishment herself when she meets them

Physically Emily is darwfed in appearance. She is currently 20 lbs
and two feet tall. Her limbs have proximal shortening, and she has
many bone abnormalities, like coxia vora hips, and frozen shoulders
Her hands are in the claw postion, Both her knees and elbows have
slowly contractured to about 20 degrees despite stretching exercises
Kyphosis and Scoliosis of the spine make it difficult for her to sit for
long periods of time. She can no longer sit on the floor without support
Her most favorite positions are to log sit or lye on the floor, scooting
around on her back. Emily also uses a power wheelchair with expertise.
At this time she contines to learn to roll. She was never able to crawl
due to poor muscle tone of her neck and arms.

MeKruizing!!!

Mentally, Emily is a well adjusted happy four year old. She does
Receptively, understands what a typical four old would. Her speech
is delayed and is diffcult, due to hyperginvigal plasia. She make her
needs known very well using a combination of gestures, words, and
sign language to communicate. (trust me on this one, LOL)

Emily's health has declined in the past two years. To date she has
had 10 pneumonia infections with multiple hospitalizations. Last
March she was diagnosed with Conjestive Heart Failure. She has
fought severe asthma and allergies. Emily has had to use oxygen
at night, on and off since she was two yrs when she is ill. Also last
March emily stopped eating and recieved a g-tube to aid in feeding
She also fights frequent middle ear infections.

Despite Emily's disablities and difficulties, she is very happy and
accepting of her illness. She seems to love and enjoy life and very
little knocks her spirit down. Emily is the strongest person I know.
Her will to live is astonishing. Daily I am both amazed and proud of
her, She truely is a very special gift

daddy em
Daddy & me

My baby sister, Macaylie. It's so
nice to blame her for the tissues, LOL

This gift was given to Emily
credit to Spirit Central

Emily has a rare condition called an I-Cell disorder or also
called ML II. also known as a mucolipidoses, or mucolipid
They are caused by a phosphotransferase enzyme deficiency

Lipids are complex carbohydrates used in the building of
cells in the body. There is a continuous process in the body
of replacing the used materials and breaking them down for
disposal. The activity takes place in a special part of the body's
cells called the lysosome. Substances are known as enzymes
which are responsible for breaking down the used materials
can only reach lysosomes only after a special signal has been
attached to them. In both ML II & ML III the signal isn't
attached, so the enzymes are lost outside the cell.

The incompletely broken down carbohydrates remain stored
in the cells in the body causing a progressive damage. The
cells that are filled with storage material are called "inclusion
cells", hence the name "I-Cell" disease. In some cases babies
may show little sign of the disorder, but as more cells become
damaged, symptoms start to appear. As the cells accumulate,
they cause a progressive damage, then death of the cells, then
as cells die, the organs stop functioning causing a short life span