ALEXA & LACEY

Current Age: Alexa is 16 and Lacey is 10

Home State: Pennsylvania

Diagnosis Date: July 26, 2016

Sanfilippo Type: MPS IIIA

Parents: Anthony and Carolyn

Sibling: Lucas

What it felt like when we learned our children have Sanfilippo Syndrome…

Alexa was almost 11 years old when we found out both our daughters had Sanfilippo Syndrome. Despite her being well past the usual age of diagnosis, it was completely unexpected. We struggled for years, wondering what was going on with her loss of speech and declining motor skills. We had attributed the losses to mild seizures. Then Lacey at age 3 started showing signs of developmental delays. Our doctor had the girls undergo genetic testing to try and find a cause for the delays and seizures. We assumed Lacey just had a mild version of whatever was going on with Alexa.

It is difficult to put into words the utter heartbreak we felt when we were told both girls had Sanfilippo Syndrome and what that meant. The complete loss of speech, motor ability, and cognitive function, ending with their death in their mid to late teens. We just sat there in shock, barely able to ask questions. It took every ounce of strength to make it through the appointment without completely breaking down. At the same time, once we were able to process the diagnosis and what it entails, it explained so much of what we had been going through with Alexa over the years.

How has Sanfilippo affected our children?

Alexa has been most affected by Sanfilippo due to her age. It has taken her ability to speak, and she is slowly losing the ability to walk. She has times where she is unsteady when walking and her gait has become jerky. She is unable to care for herself. She does still make gains but they are hard fought for and her progress is very slow. Lacey is still making gains and has not yet suffered any loss of skills. She does have a significant speech delay compared to other children her age.

How has Sanfilippo affected our entire family?

Sanfilippo has made our life a challenge over the years. We have learned to be careful, to know the lay of the land before we take the girls somewhere. One of us is not able to take both girls anywhere by ourselves. You cannot let go of Alexa’s hand in public or she will walk off and grab at stuff. Lacey will run off and if you have to hold on to Alexa, you can’t chase after Lacey at the same time. It is a juggling act to make sure our son can participate in sports and various school activities. We tend to pick outings that all three kids can have fun and be involved. Our house is a safe environment were there really isn’t anything left out that can be broken, doors lock from the inside so no one can escape, and our yard is fenced so kids can run freely. As with anyone, you learn to adjust to your family’s needs.

Sanfilippo has also taught us to cherish each moment. We are learning to make the most of our life right now and not focus on the hard times to come.

The hardest part of being a Sanfilippo parent is …

Knowing what lies ahead of us. There is no cure or treatment for Sanfilippo. It is difficult to know that sometime soon, we are going to have to stand by and watch Alexa’s body slowly give out. That she will no longer be running around our house, no longer able to swallow food, no longer know we are there. Then, once we manage to get through that, we will have to turn around and go through it all over again with Lacey.