From Holland Bloorview's website:

Holland Bloorview Kids Rehabilitation Hospital Foundation

The Unlimited Jacob

"Jacob now has a voice thanks to Dr. Tom Chau and the amazing team of researchers who work with him.” – Marcy, Jacob’s mom

If you want Jacob to bust into giggles, tell him a joke that involves, um… flatulence. Or just sit on a whoopee cushion. That should do the trick. You may want to. His giggle is infectious.

Goofy antics take a back seat when he’s in Holland Bloorview’s pool, however. With the freedom to move and appropriate support for his neck, Jacob now swims more than 100 meters.

"He is happiest in the water when he can move independently,” says his mom Marcy.

Jacob, who is nine years old, has Pelizaeus-Merzbacher Disease (PMD), a rare disorder caused by faulty myelin. Myelin is a fatty covering that insulates nerve fibres in the brain. As a result, Jacob’s vocal cords are paralyzed. Although he can make sounds, he is unable to protect his airway from food or drink. PMD also inhibits his movements. As a result he is unable to walk or clap his hands. But he finds ways to adapt so he can enjoy favourite pastimes like strumming and plucking the guitar.

Jacob is a very bright boy. “The worst thing is when people underestimate him,” says Marcy.

Both she and her husband, Andrew, have worked tirelessly to find a drug that would improve neurological function in those who have PMD. At this point there are no known treatments for this rare disorder.

While Marcy and Andrew are actively pursuing a treatment for Jacob, they also want him to be able to effectively communicate his needs and wants. For most of Jacob’s young life, his means of communication was limited to nodding his head or opening his mouth for ‘yes’ and making a sound for ‘no’. Often he would scream in frustration during his mom’s stream of questions to ascertain what he wanted. When his younger twin sisters, Sierra and Jamie, were learning to speak, Marcy made an important discovery.

"I noticed how their statements would jump around,” she says. “That got me thinking. If Jacob’s mind worked the same way theirs did, it was no wonder he got so frustrated with me. The yes/no questions were too limiting – he could only tell me what he wanted if I asked the right question.”

Marcy first learned of Dr. Tom Chau’s work on adaptive communications technology when she read an article about him in the Globe and Mail. The best news was that Dr. Chau, a renowned biomedical engineer, was located at Bloorview Research Institute in Holland Bloorview, the very place where Jacob enjoys swimming and the Snoezelen room, and accesses services like orthopedics.

After receiving Marcy’s request to work with Jacob to find communications solutions catered to his needs, Dr. Chau was quick to accept.

Dr. Chau began with a throat switch that enabled Jacob to choose items on a computer that best expressed what he wanted to say. Jacob, who triggered the switch by making a sound, grasped the concept of the switch immediately. The throat switch, however, was not always reliable.

When Dr. Chau adapted an Ipod and placed the switch, which is connected to the Ipod, just to the left of his head, suddenly Jacob could easily specify his needs and wants with the touch of his cheek. The first thing he asked for was a big hug.

Without waiting for mom and dad to ask the right question, Jacob can now tell others that he wants his favourite cat Spot, to talk to someone, go for a walk, go swimming, play the guitar, and accompany his mom on coffee trips. He has 30 programmed statements from which to choose.

Jacob uses his adaptive Ipod all the time in class at Sunny View Public School. It is helping him advance academically. Jacob was a key player in introducing this adaptive technology to Sunny View, a school for children with special needs, which is now home to Dr. Chau’s Satellite Infinity Communications Access Lab. The purpose of the lab is to find customizable communications solutions for kids who also cannot speak and have limited mobility.

Having observed Dr. Chau and his team work with Jacob, Marcy knows that Jacob’s classmates are in very good hands.

"It’s not just a bunch of scientists designing machines,” says Marcy. "They have to know the kids and more than that they have to be comfortable with them. Dr. Chau and his team will talk to Jacob before they talk to me which is the way it should be. They are very respectful of the kids.”

When asked what opportunities she envisions for Jacob, Marcy isn’t too sure – the possibilities are unlimited.

"They have such wonderfully creative things tailored to individual needs that I am constantly wondering what amazing things they will think of next,” she says. “It’s way beyond what I’d thought they’d be able to do.”

Jacob's classmates at Elkhorn

Jacob's new friends

It started as a trial last spring - Jacob started spending a 1/2 day a week at another school, a school that didn't have other kids in wheelchairs or feeding tubes. Elkhorn is a regular public school filled with kids who can run, speak and follow the standard Ontario curriculum. The idea was to continue to expose Jacob to 'regular' kids because he loves having kids speak to him and interact with him. And I knew he could follow along with their class work. I knew this because if he couldn't, we would know - he wouldn't sit still, he would fidget in his chair and he would scream in protest. And his teacher was known to him - she had been his teacher the previous year at Sunnyview. She 'gets' him and knows exactly how to teach my son. Cheryl knew it would work, I hoped it would.

From the day Jake was wheeled into Elkhorn he was accepted beyond anyone's expectations. The kids gravitated to him, they were curious and friendly and the teachers were won over by Jacob's huge, toothy smile. The trial was deemed an unequivocal success and Jacob is now a weekly presence at Elkhorn. He has even started learning French alongside his new friends!

Jacob's first few weeks of camp

Jacob is having a great time at camp. For the month of July, he is at a day camp near our house and is bussed there and back each day. He spends his time engaged in an assortment of activities including music, sensory stimulation, swimming, cooking and painting. Jacob is smiling his huge grin in each photo I've seen and tells me he is having a good time every time I ask.

When he comes home from camp, he has been spending time in his stander and/or walker. Watching him zoom around the house in his walker is amazing, and we have to be pretty quick to keep him from purposely bumping into the walls or anything else that is in his way! Seeing him upright in the stander is also an incredible sight - it's wonderful to see how tall he is getting, something that isn't always so obvious when he is in his chair.

Watching him swim is still the most awesome (one of J's favorite words!) sight - with a special neck ring, he is able to swim independently and can do laps in a 23m long pool. He propels himself with his kicks and uses his arms in a dog-paddle. It's simply astonishing to witness. When I figure out how to upload a video from my phone to this blog, I will post it.

Please call me Charlie

A few months ago, Jacob's class started reading Charlie and the Chocolate Factory. When his teacher, Vanessa (with him in the picture), reported that Jake was really enjoying the story, I bought him a copy of the book. Whenever he and I went for coffee, I'd bring the book along and we'd spend the time reading. He LOVED the story. At one point, I must have called him Charlie and he laughed. So I did it again and again. And he kept laughing. Finally I gave him a choice and asked if he wanted to change his name to Charlie. My son gave me an unequivocal YES! So he is now referred to as "Charlie" and sometimes by his full name "Charlie Buckett".

How ironic is it that Jacob (I mean Charlie), who doesn't tolerate any food in his mouth, prefers to be referred to by the name of a fictional character whose favorite thing in the world is chocolate?

Some of you might remember that a few years ago he wanted to change his name to Wanda. I guess Charlie is a move in the right direction...

Jacob is 9 years old!

The festivities started with a party at school on Friday - Sierra, Jamie, Andrew and I came to Charlie's (aka Jacob, his new preferred name is a story on its own) classroom for the first of his birthday celebrations. He stood in his stander for the entire party and loved blowing out his candles with a fan that was rigged to his jellybean switch.

The next party was the school party, at home on Sunday. We had 2 of Charlie's classmates, 1 of his teachers, his PT, nurse (and her grandson), Bubbie O (again, another story) and the vice principal. And he had a blast! We had some games set up and the prize for the winners was that they got to have their pictures taken with the birthday boy.

Less than an hour after this party ended, the family party with his cousins began. By the time it was over, all three kids were zonked. But it was so worth it! Charlie had so much fun, he had a great big grin the whole day.

The only thing missing from the parties were his princesses, most of whom were out of town. But the special phone calls were a treat!

The Reluctant Expert - Posted on BLOOM

Friday, March 4, 2011

Welcome to the club

Welcome to the club
By Marcy White

I belong to a receptive and supportive club which I joined unknowingly. At various times, our members are experts and novices, advisers and information seekers. My alleged area of expertise has nothing to do with my university education or employment history, and everything to do with raising my son, Jacob (above centre).

I am a reluctant expert on gastrostomy feeding tubes, also known as g-tubes, and all their accoutrements. G-tubes are surgically implanted holes in people's abdomens where tubes are inserted so that liquid nutrition and medication can be fed directly into the patients' stomachs, bypassing their mouths. I'm not proud of being so well informed about this particular topic but I amassed this information because I had no choice. My son, Jacob, has had a g-tube since shortly after his birth, almost nine years ago.

Recently, I found myself speaking with a scared and overwhelmed mom whose child was abruptly shoved into the world of 'alternative' feeding. During our conversation I remembered the feeling of relief I experienced the first time I was introduced to a member of what I have termed the Parents of Children with Medical Issues Club (PCMIC). And I recalled how comforted I felt to know I wasn’t alone. If I was able to provide some insight and information to this mom whose world was only recently turned upside down, I welcomed the opportunity.

When Jacob was born, he had difficulty breathing. At just a few minutes old, he was placed on a ventilator and started down a very long road of medical battles for his life.

When I went into the neonatal intensive care unit to feed him on his second morning, I was surprised to see my tiny son with yet another tube running out of his little body. This one was a two foot long naso-gastric (NG) tube coming out of his nose, taped in place to his soft cheek with a white bandage that covered almost the entire right side of his face. The nurse, noticing my appalled reaction, explained that this tube would function to deliver my pumped breast milk directly into his stomach because he couldn't swallow without choking. In shock from the unexpected complications following Jacob's birth, I watched as the milk slid into his body, drip by drip.

When Jacob was six weeks old and still in the hospital, the doctors approached us about having a hole surgically cut into his stomach so that a tube could directly administer his nutrition, a more permanent solution than the NG tube.

When I saw Jacob post-surgery I barely recognized my little guy. Since his second day of life, he had a giant white gauze-like bandage covering half his face. Walking over to his crib, I saw an adorable little baby with a full head of dark brown hair and pudgy cheeks. Two of them. Seeing all of him was the first positive thing about this surgery. I could kiss both sides of his face and feel his warm cheeks.

I learned how to care for my son. I received intense, on-the-job medical training from the nurses during Jake's three-month hospital stay. My education was from trained professionals. But I felt isolated – I didn't know anyone who had a child like mine, one who struggled each day to breathe, to move, to grow. I was alone.

Three years later, Jacob's medical issues had stabilized and taking care of his needs had long become routine. Through mutual friends, I was given a phone number of a parent with a child a few years older than Jacob who had similar medical challenges. With the hope of gaining some insight from a more experienced parent, I called Jeff.

One evening a few days later, Jeff and I were sitting in my kitchen discussing our common experiences and struggles as my husband, Andrew, mixed Jake's meals for the following 24 hours – six containers of infant formula, each one with a different ratio of powdered formula to sterile water. When Jeff noticed how time consuming and labor-intensive Jacob's meal-preparation was, he explained what his son ate and how much easier the process could be. Jeff shared pertinent information with us that nobody else had. The medical professionals didn't hold back these details on purpose, they just didn't know them.

I've learned that the best source of information is other parents who are in similar situations. My initial contact with Jeff didn't happen until Jacob was three years old and we had been struggling on our own for his entire life. I now know how helpful it is to seek out parents who have been through what I'm experiencing. The hardest part is finding the first person. After that, it gets easier. The PCMIC is a group that anyone with a child with challenges can join and benefit from the extensive and assorted experiences of others who are willing to share.

When I was given the opportunity to be the first experienced parent to speak to the mom new to my world, I welcomed the chance. I wanted to be able to do for her what Jeff did for me. I wanted to show her how supportive our club is.