Welcome Friends!
Emily S.
Birthdate - January 17, 2006
Main Diagnosis - mucopolysaccharidosis IIIA
THEME: Color Theme (purple),soft animals (esp bunnies)
Biography
Miss Emily's story of her begins February 11th, three days
before Valentine's Day, her original due date. She was born via C-section
because our hospitals rules dictate that they proceed due to previous ones. It
was routine, and for the most part there were no complications. However she was
such a sleepy baby!! It took us a full 8 hours to get her to wake up to nurse.
The first 3 days were spent trying to get her to eat, but when she did the
totally made up for it!! Once we got her home the real adventures began. I have
had 2 other children before her so I felt prepared for all the trials and
tribulations of childhood. My baby girl had other ideas...
Once we got settled in, everything flipped upside down! She didn't like to
sleep unless she was sitting up, she cried ALL the time, and was just in general
a fussy, cranky baby. We invested in a swing, so she could sleep upright and I
could sleep laying down. It worked! It was then that I realized our issue. Miss
Emily had reflux, and it was coming up when she was sleeping. A trip to the
doctor would fix that. A bottle of Zantac and a new found ear infection later we
went home and all was peaceful again. This was only at 8 weeks old, and I was
nursing her so everything from coffee, to cabbage, to vitamins were to blame. I
basically had to live on chicken and potatoes in order to make her happy. But
Miss Emily was happy and all would be well. But they weren't well. Every time we
went for a check up, or to get shots, she would present with yet another ear
infection, or a sinus infection. Little did I know that this was her illness
manifesting it's self but none of us knew
that. My other problem that I was starting to worry about was her constant
diarrhea. Not loose stools but water flowing! Again, it was attributed to every
thing from diet, to antibiotics for her never ending ear infections, to the
possibility of some GI illness.
By time Emily was 2, we knew something was up, and I was gonna get to the
bottom of it, one way or another. She wasn't saying anything, her ear infections
were so frequent that I refused to give her anymore antibiotics because we
feared that was causing the frequent tummy issues. Sinus infections, again.
Always present. I started to look for more answers. We went to an ENT for her
ears and sinuses. The answer was pretty straight forward. Tubes for her ears
would stop the infections and she would start talking, and her mild hearing loss
would go away. A tonsil and adnoidectomy would cease the sinus infections. May
of 2010, these were scheduled. The results were amazing!! Finally no more
sickness and no more goo. However we still weren't talking, and tummy troubles
were still there. We went to a GI for tests to see if it was Ceilaic Disease, an
Immunologist to see if her immune system was working right, and have her thyroid
checked. She had quite the belly. By November we
were back to square one with ear infections again. So we went back to the ENT.
He had her hearing tested, an alarming test result of 60 db hearing loss put her
in the moderate/severe hearing loss category. Her Dr decided that a visit to the
geneticist was in order. That is where our life changed.
December 7th, 2010 we went to Valley Childrens Hospital in Madera, Ca. Dr.
Powell had all of her medical records, a genetic counselor came in and mapped
out our family tree, the nurse came in and took Emily's picture. After a bit Dr.
Powell came in and looked at Emily. Her little fingers, her buddah belly, her
beautiful blond hair, her pretty blue eyes, with dark eyelashes, framed by
beautifully shaped nice dark eyebrows. He asked me a few questions and then came
out with what he suspected was going on: a Lysosomal Storage Disease, most
likely Sanfilippo syndrome was the culprit. All of these little childhood
ailments were the signs of something bigger, much bigger. Blood, and urine tests
would confirm that Sanfilippo Syndrome Type A is the cause of the countless
respiratory issues, the diarrhea, her budda belly because of her enlarged liver,
her high pain tolerance (the reason we never figured out ear infections on our
own, she never had any outward "normal" signs)and he
r clumsiness. All of it are the signs of a terminal disorder that will rob her
of her ability to ever speak, she will eventually literally forget how to eat,
and eventually walk. If my baby girl lives to be 15 it will be a miracle. You
see, there is no cure or even a treatment for Sanfilippo syndrome, for the root
cause is that she lacks an essential enzyme necessary to break down complex
sugar molecules in her body. So instead of getting rid of wasted molecules like
you or I would, she stores it. They store in the brain and in the body, causing
progressive systemic damage.
Today, she is a beautiful little girl that loves her stuffed green pajama
bunny, loves to play outside, and cuddle with her daddy. She has lots of energy,
and loves to eat. We have lots of doctor appointments to keep an eye on her,
monitor for any progression. Noticeable progression expected to show up around 4
years old. She is our Bugs, and we love her. We will do our best to make sure
she has the best possible life on earth.
When you sign up to stitch for Love Quilts you will get a confirmation of your sign up. If your pattern is a duplicate you will be asked to pick another pattern.
We encourage you to join the LoveQuiltsUSA Yahoo group to check the pattern listing for duplications yourself before you sign up.
The lists of patterns already being stitched are posted on the database. LoveQuiltsUSA is an open group so you can sign up easily and view the patterns right away. Please follow this link to sign into the Love Quilts Yahoo Group...
Once there click on the link "database" on the right to view the children and their patterns. Once you find a pattern that you want to stitch and have confirmed it is not already being stitched you may return to the sign up form, fill it in and submit it. If you have any questions about the yahoo group please email Cyberfogie@aol.com, Vicki, for further instructions (yahoo groups email only!) Thanks!
