Hope for Ryan and Brayden: February 2010

What is Sanfilippo Syndrome?

MPS III is a mucopolysaccharide disease and is also known respectively as Sanfilippo syndrome. All individuals with MPS III have deficiency of one of four enzymes,which results in the accumulation of glycosaminoglycans (GAG) inside special parts of the cell called lysosomes. This is why MPS III is part of a larger family of diseases called the lysosomal storage diseases (LSDs). The accumulation of GAG is responsible for numerous problems that affect individuals with MPS III. Sanfilippo is a fatal disorder which will cause gradual neurological and cognitive deterioration. There is currently no cure for Sanfilippo Syndrome.

To donate towards rearch for a cure please go to one or both of the following:

http://www.teamsanfilippo.org/

http://www.mpssociety.org/

Tuesday, February 16, 2010

Dentist

Ryan had a dentist appt this morning. We so dread dentist appts! It always takes both of us to get through the appt. Anyone with a child with Sanfilippo can surely relate! But, good news is - NO CAVITIES! Not sure how that happened since he rarely lets me brush his teeth and when I do it is a very short quick brushing - usually while I have him wrapped in a towel. He is one strong boy so I can only hold him in the towel for so long!! Anyway- we were glad he only bit the hygienist once :)

Friday, February 5, 2010

HAPPY 2ND BIRTHDAY TO MY BEAUTIFUL BLUE-EYED BOY! WE LOVE YOU BRAYDEN!

Wednesday, February 3, 2010

The last week has been a long one. We went last week to Baltimore to see a geneticist at University of Maryland who is willing to follow our boys. She and her staff are wonderful and we are so happy that we found a doctor willing to help us. We have had some very disappointing experiences with doctors throughout this whole process. We had Brayden evaluated for early intervention and he will start with therapies next week. Ryan has been off the last week or so. He has had several crying/sobbing spells that last from 1/2 hour to an hour. We have no idea why he is crying. Then he just stops inexplicably. He has also been waking up like he is having nightmares. Not sure what is causing that. Our Brayden will be 2 years old on Friday!! We are hoping his birthday party isn't snowed out.

Monday, February 1, 2010

Branching Out

I figured it was about time I figured out how to create a blog. We will see how it goes. Many of the other families we have met with children affected with Sanfilippo have blogs and it seems to be a good way to keep friends and family aware of how things are going and to keep the public also aware of the challenges facing children and families affected by Sanfilippo and ways they can help. Sanfilippo children are very special children and I hope through our blog you can learn how special they are.

Our Journey

For those who don't know our story, our lives were changed forever in 2009. In June 2009, our son Ryan (then 4 years old) was diagnosed with MPS IIIA (Sanfilippo Syndrome). Since it is a genetic disorder, our son Brayden (then 18 months old) was tested and he was diagnosed in September 2009. You can not even prepare yourself for news like this. There were times that Carl and I thought we could not handle it but we know we have to handle it because our boys need us more than ever now. These boys couldn't be more loved by our families and we will all make sure they have the fullest and best lives they can. We have met many wonderful parents who have children with Sanfilippo Syndrome as well as other forms of MPS and their strength and determination inspire us to be strong and to never give up our kids. I saw this writing on another parent's website and wanted to post it here.

WELCOME TO HOLLAND by Emily Perl Kingsley

I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this...

When you're going to have a baby, it's like planning a fabulous vacation trip -to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.

After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The flight attendant comes in and says, "Welcome to Holland". "Holland?!?" you say. "What do you mean Holland? I signed up for Italy. I'm supposed to be in Italy. All my life I've dreamed of going to Italy."

But there's been a change in the flight plan. They've landed in Holland and there you must stay. The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease.

It's just a different place.

So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people who would never have met.

It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around....and you begin to notice that Holland has windmills...and Holland has tulips. Holland even has Rembrandts.

But everyone you know is busy coming and going from Italy...and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."

And for some time, the pain of that will never go away...because the loss of that dream is a significant loss.

But, if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things...about Holland.