Everyone, meet Beautiful Brea. Just over a month ago I got a phone call from Brea's mom asking me about photographing her daughter. She told me that it wouldn't be your typical session and her sweet little girl has a rare genetic terminal disease called Sanfilippo Syndrome, Type A that she was diagnosed with at age 3. Mom really needed to update her photos and has one photo that she just adores of her daughter, but capturing one at home was just a little difficult as Brea doesn't stop moving. So after talking, we decided on a date and got to have some fun on a wonderful Tuesday evening! I can't tell you how awesome it was to be able to meet them!! Tricia {Mom} is truly one of the super-mom's of the world and she does "mommyhood" beautifully. I can't thank her enough for letting ME be the one to photograph her sweet girls. I can't forget to mention how amazing her sister is too. She couldn't have been more wonderful, patient, kind and all that you hope for in raising a daughter. Not to mention she is a beautiful girl just like the other girls in her family!
Brea's mom, Tricia wrote this about her sweet girl in a flyer she made about Sanfilippo:
"Brea is 6 years old, and is the youngest of 5 children. She was diagnosed with Sanfilippo Syndrome Type A, at 3 years old. She has deeply touched the hearts of everyone in her family as well as everyone she meets. Her laughter is contagious, and her smile will melt your heart. If you are lucky enough to receive a “warm hug”, it quite possibly is the best feeling in the world."
You can check out this video on YouTube too. Very inspirational, but grab a box of kleenexes! I didn't make it through with dry eyes!!
What is Sanfilippo Syndrome? It is a rare genetic terminal disease. There are 4 types: A,B,C, and D. Type A occurs in every 1 out of 70,000 births. Both parents must carry the same recessive gene to pass it down. If both parents are carriers, the children have a 25% chance of having the disease. Their bodies are lacking the necessary enzyme needed to break down and metabolize long chains of sugar molecules called, Glycosaminoglycans. Since their bodies cannot break them down, they store in virtually every cell in their body. As the buildup continues, it eventually destroys the cell, and over time will shut down their organs and central nervous system. Their immune systems are compromised and have difficulty fighting off infections. The years of pain and suffering they go through are heartbreaking to think about. Everything they gain, they slowly lose. Typically, speaking is the first to go, along with the ability to walk and swallow. They have joint pain, as it affects their bones and joints, and will soon be faced with seizures and involuntary movements, until the end of life. Sanfilippo Syndrome acts somewhat similar to a child’s Alzheimer’s. The average life expectancy is 10-20 years. Currently, there is no cure…
It breaks my heart to know that there is no cure out there yet, but.... THERE IS HOPE! There are many treatment options in the pike at this time, and a couple of enzyme replacement treatment trials have started on a group of the younger children, under age 4, for type A. Type B is also running a trial, with a few children. Recently, Gene Therapy, which has the most promise, has been approved to start a clinical trial at Nationwide Children’s Hospital in Columbus, Ohio. There will only be 6-9 kids accepted, as it extremely costly to treat just one child. Parents and foundations have united together to raise funds to help treat more children, and hopefully be able to help save more lives. Team Sanfilippo is using funds raised, to help fund these trials, and help with future research and others trials for the future. Time is critical, as these children don’t have time to wait… Please visit: teamsanfilippo.org for more information.
xoxo Kari
