World Sanfilippo Awareness Day

Today is the day! Today, November 16th, is World Sanfilippo Awareness Day! Purple Day!!

“Purple Day” at school last year for Sanfilippo Syndrome Awareness

Why is this so important?? Well, did you ever hear the words “Sanfilippo Syndrome” before you heard about it from me? My guess is no. So that, my friends, is why it is such an important day. Do you think lots of money comes in for research to cure diseases that hardly anyone has heard of? No. There is not a lot of money to be made off of “curing Sanfilippo”, and that is why there is still no cure for my sons’ terminal genetic disease.

BUT, it is the parents of children with Sanfilippo Syndrome who have STEPPED UP to the plate. It is the parents who have started foundations and have gotten clinical trials up and running.

AWARENESS is so important! The more people know about it, the more donations, the more science keeps moving forward here. Awareness ALSO helps in diagnosing children earlier, which is extremely helpful! If I had heard about this disease and read about the early signs and symptoms, maybe I would have had our doctor look into it, and would have know about our oldest’s diagnosis way BEFORE he was 8 years old and we were desperately looking for some answers!

So can I tell you a little about Sanfilippo Syndrome?

First off, it’s also called MPS III (Mucopolysacaridosis, type 3).

What causes it? Well, it is a genetic disease and the abnormal gene is carried by BOTH parents, (It’s very rare, one in 70,000.) When the child ends up with the 2 copies of this abnormal gene, it causes their brain cells to not produce enough enzymes to break down long sugar molecules in their cells. When these sugar molecules (mucopolysacarides) cannot be broken down properly, they start to “clog” up the cell, and the cells die. And brain tissue is lost.

They call it “Childhood Alzheimers”.

The damage starts in the brain, and then affects every part of their body from there.

The early signs are: (mostly taken from CureSanfilippoFoundation.org)
Speech delay

Recurrent ear/sinus infections

Large head size

Diarrhea/chronic loose stool

Poor sleep

Speech/developmental delays

“Autistic” behaviors

Significant hyperactivity

Respiratory issues at birth

This doesn’t mean that ALL of these children will have all of these symptoms, but both my children have/had about 5/6 out of these 9. Many children are diagnosed with ADHD and/or autism as well.

When they are born and in the very early years, however, everything looks and seems normal. Our doctor told us that Liam’s little delays in meeting milestones were normal and that he would “catch up”.

Many of the children have a “Sanfilippo look”. Here is a picture of Liam and Oliver as toddlers:

Liam, when he was around 4 years old

Oliver, 3 years old

You can see it in the bridge and shape of their nose and the shape and prominence of their eyebrows. They look a lot like some of their fellow Sanfilippo “brothers” and “sisters”. This isn’t to say they aren’t as cute as they could possibly be!!

I actually remember when, at Boston Children, the geneticists were studying Oliver’s face to see if he had any “look” or markings of any kind of disease like this. (I didn’t know anything about MPS at this point) All I could think of at the time was, “His face is absolutely perfect, why are you saying there might be something wrong??”

And it is, his face is absolutely perfect. But…there is a “look”… usually. They also have a bit of a protruding abdomen.

Then later symptoms include: (again, taken from CureSanfilippofoundation.org)

• Progressive intellectual disability

• Seizures

• Enlarged liver/spleen

• Prominent/thick eyebrows

• Hearing loss (may occur earlier)

• Loss of mobility – walking, running, sitting unsupported

• Loss of ability to eat by mouth

• Movement disorders, dystonia

  “Children experience hyperactivity, sleeplessness, loss of speech, loss of toileting skills, intellectual disability, heart problems, vision loss, seizures, loss of mobility, dementia, and finally death.”

Ugh. Never easy typing those words. No cure, no treatment, death sentence. Sometimes I feel so hopeless. But there really is hope, science is moving forward and clinical trials are underway from donations from people like you! And most importantly, there is a God and He can do immeasurably more than we can think or ask.

Please help us out today by sharing this blog post, sharing our fb page: @LifeForLiamandOliver, and/or donating to Cure Sanfilippo Foundation- www.curesanfilippofoundation.org.

AND heads up, there is also some exciting news coming your way soon for another way you can help support our little guys!

Thank you all from the bottom of my heart for reading this, praying for us and all the other children and families struggling with this disease, and spreading awareness. You are loved!!