A family is grieving for their daughter and taking it one day at a time in the face of a terminal diagnosis.
Kelly and Andrew Mills became pregnant with their youngest daughter nine months after Kelly had a stillborn pregnancy. The couple also has two healthy older sons. At first, their daughter Penny seemed to be developing normally. However, the family noticed she had trouble potty training at two years old. She also had trouble communicating with other toddlers but doctors were able to rule out learning issues or autism.
One year later when Penny was three, she underwent genetic screening and was diagnosed with Sanfilippo syndrome.
Her mother, Kelly, recalls how she was handed a pamphlet about this disease at the time. Initially Kelly assumed the extremely rare genetic disease would limit her daughter’s life, but soon she realized it was actually a terminal disease with most diagnosed children living around 15 years. She broke down that day when carrying her daughter into Pre-K.
Sanfilippo syndrome is so rare that it affects about one in every 85,000 infants born in the UK. The disease results in a person being unable to break down long complex sugar molecules which causes a buildup of these molecules in the brain, resulting in the loss of ability to remember, move, talk, or swallow.
Currently, Penny has stopped using a fork and uses her hands to eat. Her mother painfully recalls she has not heard her daughter use the word “mummy” in months and her vocabulary is slowly dwindling.
The first stage of Sanfilippo syndrome is delayed learning. Penny is in the second stage that includes hyperactivity and trouble sleeping, and the third stage is when patients are unable to swallow and need feeding tubes.
Kelly says the family is grieving for their little girl but they also have been taking family vacations to make as many memories with their daughter as possible. The family went to Disneyland Paris in 2019 and plan to go to Disneyland Florida in 2021.
Penny still remembers her family, but the family is coming to grips with the fact that one day she will no longer remember them.
Read more about Penny’s story and childhood dementia here.