Matthew Di Ilio was an active, affectionate 2 1/2-year old who loved to sing O Canada, recite nursery rhymes and page through books.

His parents didn’t notice anything amiss until a daycare worker pointed out that he was only speaking in two-word sentences. After more than a year of testing, his family received a devastating diagnosis: Matthew had a type of mucopolysaccharide disorder (MPS) known as Sanfilippo syndrome. His body lacked enzymes necessary to break down chemicals in his cells, causing damage to his organs and central nervous system. His mom Lori spoke to BLOOM about parenting a child who is losing skills and has a shortened life.

When he was diagnosed at age four, it was really hard to believe, because he was walking around and talking and being a regular little boy. By age six, he had lost all speech. Then he began to trip and fall. We would put kneepads, elbow pads and a helmet on him, and walk him around holding him up in a vest, in the hopes of keeping that skill. But by eight he was using a wheelchair. At 12 he lost the ability to swallow. Some of his symptoms were similar to Alzheimer’s in that he would become confused and anxious and get aggressive because he couldn’t communicate. Today, at 15, he’s in a vegetative state. But he is so sweet, and will still give kisses after all these years.

The best thing for me has been my husband, Rob. Most men in these situations leave the care to the woman, but in our case Matthew’s care has been a shared venture. There was a lot of frustration at times, but Rob and I would play off each other: if he knew I was getting frustrated, he would take Matthew and vice versa. Rob and I have found happiness through our dedication to Matt and commitment to each other. One night a week we go out for dinner to regroup and stay connected as a couple. I feel this is critical. You have to find things that make you happy.

When you’re informed, you can better deal with situations as they arise. Early on I researched Matthew’s condition and joined a parent support group. Meeting other families in similar circumstances is vital because you learn practical information you can’t get from doctors. After all, they don’t live with the kids! Other parents understand exactly what you’re going through and how you’re feeling and that’s very therapeutic. I eventually became executive director of the MPS Society. Getting involved gave me a way to cope.

I’m a firm believer in respite. Parents need a break and they also need to have special time with their other children. We’ve used inpatient respite at Bloorview and Safe Haven, as well as hiring workers to come to the house.

After I stepped down from my role at the MPS Society, I lost some self-esteem. I decided to focus a bit on myself by getting my own treadmill and working out each morning. Pounding the treadmill is a great way to get the stress out. It gave me a purpose, helped me sleep better, and I lost 35 pounds! I also began volunteering at my daughter Katie’s school. The focus has always been on Matt and it was important for me to have a presence in her life. These things helped me to feel better about myself and gave me the confidence to face the negatives that go with our situation.

It’s such an emotionally-loaded situation that people don’t know what to say. There are few people that I talk to about Matt. Friends who haven’t experienced something like this tend to inadvertently say insensitive things. Everyone else is busy with their own lives — going to hockey games or travelling or doing all the things that families do, and that Rob and I can’t. We fall behind and spend weekends alone. I do have a couple of close friends who support me greatly. We’re lucky because Rob and I both have supportive families and we spend a lot of time with them.

Matthew’s last words were ‘Kay-dee,’ for his sister Katie. He just loved her. Katie has coped very well over the years but she definitely experiences sadness. I think she also feels a bit isolated when it comes to vacations and family outings. We make an extra effort to get out as a family and go away every summer. One place we find wheelchair-friendly is Ottawa. Katie has very supportive friends whose parents have been terrific when it comes to picking her up and dropping her off — knowing that it’s not so easy for Rob and I to get out. Even though Katie is 13-years-old, she enjoys a bedtime routine where she and I chat. This is a special time for us.

Matthew has such a sweetness about him. He loves us unconditionally. He tries very hard to give kisses and to even smile. He waits patiently for us to assist him with his personal needs and never ever complains. We appreciate every moment he is with us. No matter how many kisses we give and receive, it will never be enough.

One of the biggest insights I’ve gained is that it’s not material things that make you happy — it’s what you find within yourself, overcoming obstacles and somehow finding happiness within all of the adversity. Life is definitely what you make of it and we have so much to be thankful for.

Just listen and let us tell our story, without offering advice.

Listen to parents and be creative. Don’t give up on children even though they’re losing skills. It’s important to parents to know that people care about their kids. Think outside the box. Rehab professionals have been most helpful to our family, especially the folks in the Bloorview seating clinic.

Matthew died as we were going to print with this story. We dedicate this issue of BLOOM (Winter 2006) to Matthew’s beautiful spirit.