Hope for Ryan and Brayden

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/

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.

1 comment:

UnknownFebruary 3, 2010 at 1:35 PM
Jen,
this is amazing. I love the Trip to Holland..I have read that long ago and have applied it to my own life with a special needs child. it helps. You are so strong and you are right, the boys truly need you and Carl and that is something special in and of itself. it is obvious the joy that thrives in your lives with them, even though this terrible disorder keeps knocking at your door. I thank you for reaching out and sharing your story...as if your life is not busy enough, but i hope you find that sharing with us and teaching us is the outlet that you need to gain strength. Happy 2nd Birthday to Brayden!! give him a big hug from me. I would love to do so myself soon, so invite me over!!! Im lonely!!! I am so proud of both of you and blessed to be in the world of parenting with you. our stories are different, but we are all loving our hearts out!!! thank you for being so brave.
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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.

What is Sanfilippo Syndrome?

Wednesday, February 3, 2010

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