About Emily - the who and the why

Emily was born in 2011 with a broken heart. Diagnosed before birth with a Congenital Heart Defect called Ebstein’s Anomaly of the Tricuspid Valve, she spent her first 10 days in the NICU and had heart surgery at 4 months old.

A rough start, indeed, but medical technology gave us so much hope for her chances at becoming a well and independent adult. Yes, she started life worrying her parents, but she was tough and thrived. As she grew, we noticed delays, though. She began early intervention therapies due to delayed walking and talking. She was a wonderful and well-behaved toddler with a fun sense of humor and a love for song. There were no “terrible twos” with her. We could take her out and she would engage with us – she would even sit at a restaurant table to eat! Yes, she did have enough extra energy to want to run off without any understanding of danger, but we chalked that up to toddlerhood. At three years old, she entered an early childhood education program for special needs. Her very experienced teachers worked with her speech and her increasingly challenging behavior. Eventually, they helped me understand
that her overall delays were not something where she could “catch up” with her peers. They urged me to pursue a genetic diagnosis. We agreed, as her intellectual disability and hyperactivity had become more prominent. Yet, we still looked on the bright side of finding answers and getting her the proper help to grow into as independent an adult as possible.
At the age of five, the summer before she entered Kindergarten, we found our answers. Her diagnosis was MPS III type A, also known as Sanfilippo Syndrome. Rare. 1 in 70,000. We were told that it was progressive, degenerative and that she inherited it from both of us. The genetic counselor used the words “life-limiting” and said the life expectancy was mid-teens. Before that eventual fate, we would see her lose everything she was working hard to gain: speech, mobility, independence, learning and feeding. Her brain would slowly atrophy and die, cell by cell – a childhood dementia. Her body would do the same. Seizures will happen eventually as well.

Our presumption of relative health for our daughter was smashed. She was far more medically complex than we had imagined, and we were being told that there were no treatments for her type of MPS, let alone any cure in sight. Our only sliver of hope for her living to adulthood was that she had one gene mutation indicating a less severe form of Sanfilippo. No guarantees, though. Make memories, they told us.
We were sunk and stunned. Our beloved Emily has a terminal diagnosis of childhood dementia! We were put into contact with groups and foundations that involved families to advocate for research. We tried to learn as much as possible about her condition, and still work at that every day in order to help meet her needs – to help her maintain as many skills as possible. It’s a hard fate to face with your child. It’s a hard condition to deal with as a family, watching the changes this horrible condition causes. Yet she is still here and alive with us, and where there is life, there is hope. She fights, we fight!

So, I have built this store. I want to have products here either by her hand or inspired by her in some way. She may not grow up to be able to make her own footprint on this world, but we are here as her family to put her out there. Forever (and ever), Emily!