The story of the ongoing struggle for my oldest niece, please take a minute to read.

Emily Rose is an Amazing 10 year old little girl full of compassion, love and an enormous amount of strength. She has an old soul with a young spirit and to see her laugh makes our hearts smile!
When Emily was a baby she started having common symptoms of thrush. After common treatment failed and Emily began to loose her finger nails, we were then sent to see an immunologist. This was the road to the much more serious issues that would soon follow.
The doctors decided when Emily was four it was time to have her tested for genetic diseases, which lead to the Diagnosis of APECED Type1.  It is an Autoimmune disease caused  by a mutation in the AIRE gene and Emily inheriting one faulty gene from each parent, which has caused her to have the disease. When Emily was diagnosed in 2006 there were only 54 cases of type one known world wide. With APECED it can cause the immune system to attack and deteriorate the organs within the endocrine system.
Emily has a very rare form of an already rare disease that has developed very aggressively. At age 5 emily lost the absorbtion side of her pancreas, parathyroid, and developed a weakening of the respiratory system. Luckily with the help of the Vest the air way passage machine she has regained strength in her respiratory system. The combination of the loss of her parathyroid gland and malabsorption has caused Emily’s calcium to drop to dangersouly low levels, which has lead to many hospital stays and calcium IV’s. To date Emily has also became type one diabetic, growth hormone in-deficient  and due to the severe case of malabsorption it has had a negative impact on her liver and other organs. There are many new health challenges that emily is constantly facing with this disease as they can be presented very quickly. Her doctors are continulousy working hard and researching the disease, however there is no cure, just ongoing treatment for each problem as it arises.
For Emily, living with this illness has meant a lot of hospital stays and continuous blood work over the past 6 years, sometimes up to three times a week and a host of over 23 pills a day in addition to calcium shots, growth hormone shots and insulin shots which she prefers to administer herself with no complaints.  We will be traveling to Washington DC where Emily will be in the hospital for two weeks getting a pump for the parathyroid hormone and further treatment.
Emily received a special make a wish in 2010. Since then she has had an amazing pay it forward attitude. For Emily’s 10th birthday she asked that everyone please omit gifts and instead bring slippers that she could donate to all the children in the hospital so they wouldn’t have to wear scratchy socks :)  Emily collected 100’s of pairs to Donate and continues to always put others first even though each day can be a struggle. 
Emilys complaints are few and far between from the time she was 6 and spending alot of time in the hospital she has always said “The Show Must Go On” and that is the motto are family lives by. As scary as it is to know the road ahead for Emily will be full of medical challenges and obstacles. Her amazing spirit pushes on through her big brown eyes and gorgeous smile. Emily has already been a wonderful inspiration to so many.
The identification of this disease has helped the doctors with Emily’s ongoing treatment and care. We know first hand how important genetic testing is and that is why the proceeds will go to paying for patients who need genetic testing done, as insurance will not always cover it. There are many other genetic diseases that can be more effectively treated when these tests are completed. Emily’s goal is to pay for fifteen people to get tested by December.
“The Show Must Go ON”!

The designs below have been created for Emily Rose and a portion of all sales of these necklaces will go to the foundation they have set up called Genes and Dreams which allows others to get this special genetic testing done!

http://www.bashfulbliss.com/collections/special-people/products/emily-rose