The below letter was written by Valerie, Will's devoted Mother.
When our son, Will, was born 7 years ago, I thought that
everything about him was perfect. His
toes were perfect. His nose was
perfect. Even the tiny little strands of
earwax I’d find in his perfect ears were perfect.
Will, was our first child and our everything.
We had been blessed with an easy pregnancy, an uneventful delivery, and
an outwardly appearing healthy child.
All was right with the world.
Will grew and developed normally and we took great joy in everyone one
of his milestones. When he was two, we
decided we were ready to experience all the wonderment again and became
pregnant with Will’s little sister.
While pregnant with our second, we started to notice a few
differences about Will. Nothing overly
alarming. His speech was a little behind
some of his friends and we noticed that some of his fine motor skills were as
well. However, in some things he was
very far ahead. He knew all of his
letters and their sounds, his numbers up to 30, his colors, and his
shapes. He was a summer birthday and
therefore the youngest of his friends, so we hoped that it was just immaturity
and that he would catch up in time.
After his sister was born, more concerns came. Will was 3 now and wouldn’t potty train. He was going to have to leave his preschool program because of it and because of his increasing hyperactivity. He was still loving and social and good-natured, but he couldn’t be still. By the time his 4 year-well check arrived in summer 2014, Will had obvious, though minor, development delays in speech and motor skills. We were sent for evaluation and assessment in August 2014, after which a specialist classified Will as high-functioning autistic with possibility of ADHD as well. We were shocked; autism was the last thing on our minds. However, this diagnosis gave Will access to help such as the early childhood education services through our public school district, occupational therapy, and speech therapy, so we accepted it and worked on getting our sweet boy caught up to his peers. After getting through all of the paperwork and assessments, we were able to start Will in services in December 2014.
And he loved it! He was doing well in school, enjoying his therapy, and showing lots of progress. However, we still had concerns. Something still didn’t seem right. The autism diagnosis only covered some of his quirks, and others still remained unaddressed. Our pediatrician wasn’t satisfied either, asking us in October 2014 to make an appointment with genetics. We called and set up an appointment in April 2015 (the earliest they had openings) and didn’t think much of it. Maybe he had an auto-immune disease like his Dad, maybe we’d find the autism gene. Nothing else crossed our minds.
Until February 26, 2015.
After his sister was born, more concerns came. Will was 3 now and wouldn’t potty train. He was going to have to leave his preschool program because of it and because of his increasing hyperactivity. He was still loving and social and good-natured, but he couldn’t be still. By the time his 4 year-well check arrived in summer 2014, Will had obvious, though minor, development delays in speech and motor skills. We were sent for evaluation and assessment in August 2014, after which a specialist classified Will as high-functioning autistic with possibility of ADHD as well. We were shocked; autism was the last thing on our minds. However, this diagnosis gave Will access to help such as the early childhood education services through our public school district, occupational therapy, and speech therapy, so we accepted it and worked on getting our sweet boy caught up to his peers. After getting through all of the paperwork and assessments, we were able to start Will in services in December 2014.
And he loved it! He was doing well in school, enjoying his therapy, and showing lots of progress. However, we still had concerns. Something still didn’t seem right. The autism diagnosis only covered some of his quirks, and others still remained unaddressed. Our pediatrician wasn’t satisfied either, asking us in October 2014 to make an appointment with genetics. We called and set up an appointment in April 2015 (the earliest they had openings) and didn’t think much of it. Maybe he had an auto-immune disease like his Dad, maybe we’d find the autism gene. Nothing else crossed our minds.
Until February 26, 2015.
On that day, I had a rare moment of quiet as the kids were napping. I was trying to catch up on news and was reading articles on the Today Show website. One story caught my eye. It was about Eliza O’Neill, a five-year old girl living with a rare disorder called Sanfilippo syndrome, also known as MPS III. As I read about disorder’s symptoms included with the article, I started to sob. I was reading about Will. Large head. Speech/developmental delays. Hyperactivity. Autistic behaviors. Chronic loose stools. Prominent eyebrows. Large belly. Umbilical hernia. My sobs increased. I researched more and the words ‘untreatable,’ ‘incurable,’ and ‘terminal’ sent me into deeper sobs. I texted friends; they told me to get off the internet, stop diagnosing from website, I’ll drive myself crazy. I wanted to be crazy, I wanted to be that crazy paranoid mom. But I was scared. Will had all of the early warning signs, except for poor sleep and chronic ear infections. But those two missing symptoms weren’t enough to easy my mind. I read that you could order a urine test to pre-screen for MPS. I called my pediatrician at 4 PM and ordered the test, figuring I would turn it in, get the negative results, and laugh at my paranoia. We gathered the sample and took it in the next morning.
I
cried in the parking lot.
The afternoon of March 5 we received the call that his urine had tested positive for MPS and our life has been a whirlwind of despair and confusion since then. The call confirming Sanfilippo Sydrome came a month later. Will is still perfect in our eyes and he always will be. But now we know that his genetics are imperfect and that our time with our son is limited. His time with the ability to walk and talk is limited. Our most precious commodity is now time.
But we are lucky to have this time. Will was thankfully only misdiagnosed for 6
months. It was beyond lucky that I saw
that Today Show segment, that I trusted my gut, and that my doctor was willing
to follow my lead for the testing. Many
Sanfilippo children are not as lucky and can go years misdiagnosed, meaning
that their families have no idea what is slowly happening. They waste valuable time trying to find
answers or chasing incorrect diagnoses.
They feel anger and frustration and lost. That is unacceptable. We MUST raise awareness of this disease, not
only to push the research forward, but so that families get the answers that
they deserve so that they can focus on what is important: the well-being of
their child. The afternoon of March 5 we received the call that his urine had tested positive for MPS and our life has been a whirlwind of despair and confusion since then. The call confirming Sanfilippo Sydrome came a month later. Will is still perfect in our eyes and he always will be. But now we know that his genetics are imperfect and that our time with our son is limited. His time with the ability to walk and talk is limited. Our most precious commodity is now time.
_______________________________________________________________
Thank you Valerie for sharing this story to JJB's readers. xx Jill
This will be the first of many guest bloggers to tell their diagnosis story. My goal is for everyone to see that there are most likely hundreds of Sanfilippo children living throughout the US and many many more throughout the World that are misdiagnosed or just not diagnosed at all.
We need to find them and get them the help that they need. Will you help us spread the word?
Mission Hide and Help: Is a campaign that our very talented advertising friends and film crew created for us. Please check out the website and watch the video. We can only reach the masses if you help us spread the word and answer our call to action. https://missionhideandhelp.org/
JJB is hosting a launch party in Brooklyn at our neighborhood church. This is the most nervous and scared that I have ever been. I have given numerous speech's over the years to: politicians, doctors, scientists and pharma. Television and newspaper pieces are old hat for me.
Jeremy and I have protected Jonah from the truth as much as we could. We have never overtly put Jonah on display like this. My fear is that people will treat him differently that they'll either be scared of him or mean to him. As of this moment Jonah doesn't know the truth, that he has a 'syndrome'. Jonah knows that he's not as smart as his friends. I see the pain in his eyes at the playground when his peers ditch him to play games that are too complex for Jonah to partake in. Jonah is 9 and he will always want to just play tag, hide & seek and soccer.
I have 10 days to explain to Jonah about his body and brain and that it didn't develop quite like his friends bodies and mind. This is the hardest thing I have had to do, to date. I DO NOT want Jonah to ever know that he has a terminal illness, after I have gotten a treatment into him, then I'll tell him the truth. For now I have to give him a reason as to why he has a commercial with all his friends talking about how special he is, the Mission Hide and Help video will be played in front of him to all of his peers in attendance. The kids in this video are Jonah's neighborhood friends. They actually don't know exactly whats wrong with Jonah and this group of kids don't care either, they love him just the way he is. I'm going to remember that and have faith that we're doing the right thing. Not just for Jonah, we have to do this for all the other children suffering from Sanfilippo. Friends and Neighbors in the Brooklyn area, you can find the details on our Mission Hide and Help FB page. https://www.facebook.com/MissionHideandHelp/
While there please like and share our FB page, we're also on Instagram.
Official Mission Hide and Help Press Release. http://www.digitaljournal.com/pr/3491185
I encourage our supporters and other MPS families to host Mission Hide and Help parties. Show the video, teach the kids and their parents what to do, then swap Pokemon cards! Super easy and fun, more importantly your party could lead to a new diagnosis.
Thanks for listening and sharing.
Jill
