THE BARBER FAMILY

Autumn, her parents Sean and Lauren, and siblings Jack and Maya.

“LIFE ISN’T ABOUT WAITING FOR THE STORM TO PASS … IT IS ABOUT LEARNING TO DANCE IN THE RAIN.”

 – Vivian Green

AUTUMN BARBER

 

Current Age: 2

Home State: California

Diagnosis Date: January, 29, 2020

Sanfilippo Type: MPS IIIA

Parents: Sean and Lauren

Siblings: Jack and Maya

 

What it felt like when we learned our child has Sanfilippo Syndrome…

I had pushed for further testing against the advice of Autumn’s geneticist. We had been told time and time again that even if they did find anything it likely wouldn’t change the plan of care and that we would just need to continue intensive therapy and she would gradually improve with time.

I walked into the follow-up appointment that day by myself, not expecting to hear much more than an “I told you so.”

Hearing the words “Sanfilippo Syndrome” took me by complete surprise and hit me like a ton of bricks.

Already familiar with all the horrific details of this disorder, I instantly knew that I would have to watch my child suffer and die.

I was numb for about a day before I fell into a deep state of sadness and anxiety that lasted for months. I couldn’t eat. I couldn’t sleep.

What our child loves the most is …

Autumn loves music and dancing, books, princesses, and just about anything her older brother and sister do to entertain her!

How has Sanfilippo affected our child?

Autumn was born more severely affected than most children with Sanfilippo Syndrome. She has had a whole team of therapists and specialists since the day she was born.

She does not have many words, but is amazing at communicating with her eyes, gestures, sounds, and signs. She is not mobile, but can sit and play independently.

Despite her struggles thus far, she is the happiest, most easy going, and loving little girl I know.

How has Sanfilippo affected our entire family?

We have spent the better part of this last year since diagnosis turning our lives upside down and jumping through unimaginable hoops in search of that glimmer of hope that there might be some help for our child in terms of a clinical trial.

Our whole family and extended family have come along with us for the ride.

Jack and Maya have so much love for their baby sister. They tag along to appointments, cheer her on in therapy, and are, for the most part, pretty helpful and understanding. I dread the toll that this will have on them long term as the disease progresses and they get old enough to understand the gravity of this horrific disease.

We have also learned to appreciate all the little things in life that we once took for granted, to worry less over the things we can’t control, and to find humor in some pretty strange situations!

The hardest part of being a Sanfilippo parent is …

Sanfilippo Syndrome is a very daunting disease. We have plenty of moments of joy and fun and laughter, but no matter how hard I try to live in the now, not a single day goes by that I don’t think about the inevitability of this disease and all of the pain and suffering that lies ahead.

The biggest misconception people have about Sanfilippo is …

I think, in general, people have the misconception that a disease so horrible could never happen to them or someone they love. I know I used to think so!

If we could tell people just one thing about Sanfilippo Syndrome, it would be …

Rare diseases are not really that rare, and the day-to-day realities of this disease are far worse than you could ever imagine.

If we could ask just one thing from the world/people, it would be …

Please be kind and help spread awareness. Okay, that’s two things, but both are very important!

Why are we asking you to donate to Cure Sanfilippo Foundation?

Please donate because we don’t want any other families to have to go through this and we don’t want any more children to suffer.

With awareness and funding comes more research opportunities, and with research comes hope. For families facing a terminal diagnosis with no treatment or cure, hope is absolutely priceless.


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