Welcome To Strides for Sophie
Sanfilippo Syndrome is a devastating genetic condition that ravages healthy, normal children. Its cruel trajectory leads to physical incapacity, dementia, and ultimately a premature loss of life in the early to mid-teens.
Sophie and her friends- including Elisa, Jonah and many others- are bringing communities together to fund research that will bring change. We are hopeful for current research that is pursuing breakthroughs for a treatment or cure. We are close to change, but need your help to fund the scientists that are giving hope to children worldwide that are from suffering this condition.
Advance research to help reach a clinical trial– and a cure for this condition.
2015 CHARITY RUN
Take part in the upcoming Charity Run in Stratford, Ontario.
COUNTDOWN TO THE 2015 CHARITY RUN
Sophia Marie Hamza was born on March 14, 2008. A little sister for Grace, and a beautiful second daughter for Sarah and Tom, her birth was a straightforward one aside from the fact that she arrived in our joyful arms with a relatively common defect in the form of a cleft palate.
Beyond a special feeding regime, everything about Sophie was normal – those who passed her on the street would have noted only her captivating eyes and brilliant smile. In fact even her parents and doctors had no clue as to the battle waging within, until the surgery to repair her cleft led us to the genetics department and Toronto’s Hospital for Sick Children.
In the spring of 2009, Sophie was a happy, growing child who was developing normally. Her cleft had been determined to be unrelated to any genetic cause, and was judged simply as a hiccup along the amazing process of human creation. However, there were some features of concern. The doctors that examined her noted that her head was bigger than average and that her eyebrows were heavier than normal. She also had a big, full tummy, and most tellingly, was secreting heparin sulfate in her urine, a substance that shouldn’t have been there…
On November 10, 2009, following months of testing, Sophie was definitively diagnosed with MPS IIIB, or Sanfilippo Syndrome. Just as with the impossible bumble-bee, the impossible truth soon became our reality. Our little wonder had been born with a genetic defect that no one could have foreseen, and for which no treatment or cure currently exists.
We have seen Sophie’s condition affect her gradually. At six years old, she has lost most of her vocabulary, has impaired hearing, and has great difficulty sleeping at night. Her spirit remains strong however, and her infectious laugh and playful spirit touch her sister, family, teachers, helpers and schoolmates. Her personality shines through, despite her increasing challenges.
The goal of Strides for Sophie is to raise awareness of Sanfilippo Syndrome and to raise funds for a cure. A solution is out there, but it requires funding to continue to bring the brightest minds to this problem.
Our Busy Bee
Sophie’s abilities continue to surprise us, despite the ongoing ravages of Sanfillipo. She continues to interact with the world around her in a non-verbal way, but she is surrounded by people that love and support her and it must help. She rarely if ever expresses anger at not being able to communicate, although we know that it must be frustrating to her. The people around her have been trained to pause and wait for her to make sounds- and so many times these are perfectly timed and she is participating in the conversation. If her sister gets in trouble at the dinner table, she has been known to laugh. Its a welcome sound, despite the nefarious intent.
Her sleep continues to go in waves. She can spend several months struggling with sleep, and then can spend the next few months sleeping normally. Some nights she is capable of not sleeping at all- meaning that she can’t settle in the evening and is up straight through. On others, she will wake up at 2 AM. It can be exhausting, but the upside is that she is typically very cuddly and affectionate. And we treasure those sleep-in mornings like medicine. There is a silver lining always.
Soph’s demeanor has become more calm as she gets older. The dangers about her constantly ‘bolting’ or getting into a jam if left by herself have diminished. We still need to be careful, but she is very capable of hanging about the house on a Saturday morning playing with her favorite toys and books, and being lazy around the house like any seven year old. We’re very grateful for moments like this.
We have to be very careful around food- she is in great danger of choking when eating and has had numerous trip to the emergency room and life-saving Heimlich maneuvers performed. We are on pins and needles at dinner time, but this is partially offset by her voracious appetite. She loves to eat all kinds of food- including Indian, Chinese and other foods. Its a real pleasure to watch her eat- its one of the ways that sees the world in technicolour, perhaps even more than the rest of us.
There are two really important elements in Soph’s life that are a bright light to her and to us. The first is her caregiver Emily B.. Emily is there every day after school with her, and her kindness and attitude make her an extraordinary part of Soph’s life. She understands Soph, knows when to play with her and how, and goes out of her way to make sure that Sophie and Grace are constantly exploring and in an atmosphere of loving kindness.
The other important part of Sophie’s happiness is her community at Romeo Public School. The team—from bus driver Brian to her EA Vicki and her teacher Kim, plus assistant Michelle and many others- provide a warm and supportive environment. Every morning Sophie has a song sung to her by the class, and she participates in the verbal daily updates by having text uploaded on her iPad. She has daily tasks in the classroom with her peers, who have grown up with her and understand her special needs. Every day, we get pictures of what happened that day together with a complete summary of what happened. She gets regular PT and OT visits, and has great support. The experience of being in a blended classroom has far exceeded our expectation and we have the Avon Maitland School Board to thank for this. Life continues- it has its ups and downs but the ups way outnumber the downs. As you can see from the pics, she has a spark in her eye and often has a smile on her lips. She brightens Grace’s, Mum’s and Dad’s world every day.
Sophie’s Sanfilippo progression steadily continues, but she has surprised us repeatedly this year with her resilience and ability to thrive when we haven’t expected it. We know to never underestimate her abilities, because of her surprising capacity to do the unexpected.
Perhaps the most difficult notable and challenging aspect of Sophie’s progression is her loss of vocabulary. At one time, she had about 40 words that she could articulate that described her world around her. She now is essentially non-verbal, though still very communicative in her own way.
She remains very strong-willed and physically strong. She is relatively big for her age- she can wear the same sized clothes as her sister- and when she is determined to do something she does it. Her toe-walking is more pronounced and she is ‘on-point’ for most of the day.
Sophie has less tendency to ‘bolt’ than she once did, making outings far more enjoyable for all. Visiting places with her has been greatly aided by an ergonomic, heavy-duty stroller that is built for bigger kids like her. She enjoys wide open spaces and going for a short runs through public areas, followed by a relaxing ride in her stroller. Preferably with ice cream.
One of the great joys of this past year- and possibly our lives- was our Children’s Wish trip to Disney. Sophie (and Grace) were treated like Princesses by the Disney people and the Give Kids The World Village where we stayed, and the memorable photo of Sophie touching Mickey’s nose summarized this magical experience. Dad never suspected it could be this good- and Mom was amazed that it exceeded her expectations too.
Our Soph continues to have deep reservoirs of affection. She doesn’t often look into people’s eyes or smile, but her cuddles more than make up for it. The few times that she does look you deeply in the eye are so profoundly powerful that they make your whole week.
Sophie’s Sanfilippo is continuing to progress, but she is a really happy kid that is a joy to be around. The best times are when she is full of mischief and action, especially with her loving older sister. Sophie keeps the three of us laughing all the time with her love of being chased, her unbridled joy when she gets certain simple pleasures like food, drink or TV, and the way that she burrows right into you when she feels affectionate.
She reached a milestone this year. After 2 years of exceptional attention at Centennial Infant Child Care (for special needs kids) and the love of Lisa, Kim, and her volunteers, she graduated from pre-school and is ready for JK. She’ll be attending school in Stratford in September, and the rules, manners and songs (especially those) from Centennial continue to stick. She is now good at being in a group- she waits in line, can generally share, and loves being with other kids at the playground.
Part of her character and likely her Sanfillipo is her fierce determination. She can be a very headstrong girl. If there is something that she wants to do, she can be difficult to dissuade. It is an endearing part of her personality, even though it occasionally results in a “I’m not leaving this elevator/chair/car/train set” tantrum. The combination of her determination and her physical strength tip the balance in her favour more often than her parents would like!
Mentally, she is sharp although she is largely non-verbal. Her ability to use the iPad has been a revelation- on puzzles and other games, she can be remarkably fast. Although she has a very limited vocabulary, she can communicate in a myriad of ways, all of them urgent.
She makes decisions quickly, and follows up on them immediately- you have to keep an eye on her because like a sprinter, she’s always ready to go. Her speed is aided by her gait- her condition makes her walk on her toes in a pronounced way, and the perception (and reality) is that she’ll bolt at the drop of hat!
One of the biggest challenges is her sleep schedule. She regularly has streaks of being a night owl and waking at 3 or 4 AM. These can be tough things to adjust to, particularly when they can go anywhere between 3 to 7 days in a row. It is like having an infant that wakes up and wants to play, and won’t go to sleep. Paradoxically, these can be some of the most fun times to be with her- she can be very affectionate and just wants to hold you. In the still of the night, it is a quiet blessing that was never ordered but very appreciated.
She can be hyper at times, but also exceedingly docile and she responds to hugs and kisses. She is very affectionate and knows that she is loved. Together with her infectious laughter and curiosity, this is one of the most delightful things about her.
Sophie has continued to be a positive, happy little force that brings joy to Grace, Mom and Dad every day. She is no shrinking violet, and has many creative ways to get ideas (and demands!) across with her limited vocabulary.
Centennial Preschool ended the school year in June, and the pause allowed us to take stock in how far she has come under the care of Kim, Lisa, Iris and many other volunteers and her friends. Although she doesn’t articulate very precisely, she enthusiastically (and loudly!) is willing to recite any number of nursery rhymes, or the alphabet, or her numbers. “Itsy bitsy spider” is very popular, sometimes even at 4 a.m.! Her patience, vocabulary, and understanding of routines and social norms have changed so dramatically thanks to this special place. What a year she’s had
Grace and Sophie are playing soccer together this summer, and visibly enjoy their time together on the pitch. Soph has always enjoyed kicking and tossing balls, and she’s typically easy to spot as the only kid on the field that is regularly running and peeling with laughter. She loves that everyone wants the same ball, and it is a joy to hear and see.
An important medical change happened this year, and she is now prescribed a more concentrated form of a substance called Genistein. This supplement isn’t a cure, but it is meant to slow down the processing of the sugars that are causing the problems that she is facing. From our perspective, it has had a positive effect on her sleeping and on her demeanor in general. She isn’t as moody as she has been, and she is better able to focus on activities.
The summer has not been without it’s challenges, however. We’ve begun to face many sleepless nights, and we’re learning how best to cope. As she gets older, we’re also beginning to note that certain delays are more pronounced, and it has been important to focus on living in the moment and taking great joy in seeing her amongst her peers.
The fall of 2010 was filled with so many important milestones that it is hard to know where to start.
In September, over 70 people joined Sophie in the inaugural “Strides for Sophie” 5km/ ½ marathon run. Battling a cold on game day, she managed to share her infectious smile with everyone who was there. It was an overwhelming day thanks to an early wake-up, meeting dozens of new friends, eating lots of sweets and enjoying 3 hours of cool fall fresh air. The weekend was a celebration of friends, hope and the good fortune of having such passionate group of supporters. Photos of the weekend can be enjoyed here.
Following the excitement of the weekend, it was back to Centennial on Monday, where she been in pre-school since late August. She has been thriving in this remarkable facility thanks to Lisa, Kim, and the many volunteers. She has had some big milestones this fall, including her first two-word sentence (“Open bubbles!”) and dozens of new words.
As we write this, Sophie is getting ready for Christmas. The summer and fall have been filled with warm memories- including regular trips to the museum and Riverdale Farm, her sister’s 4th birthday, and making new friends at preschool. She might have occasional troubles transitioning between activities, but she is generally a really happy kid. Her speech is coming along, and her hearing even seems to be improving. Sophie is generous with hugs and kisses, and they are keeping us warm as the weather gets cooler.
At 2 ½ years of age, Sophie is a big strong happy girl who has developed a keen interest in music and singing (in her own key!). While her speech is delayed, her vocabulary continues to grow, and she seldom has difficulty communicating what she wants. Among her most favorite things are a special chocolate treat that daddy started bringing home about a year ago, a little before anyone knew of her condition: Filled with chocolate, one of the first words Sophie learned was “Bee! Bee!” whilst gesturing madly at the refrigerator where they are kept. As the parent of any toddler knows, nothing is impossible if only you are persistent enough…
Oblivious to what the specialists have learned about her, Sophie continues to thrive and meets each day with enthusiasm and joy. At this early stage, she remains agile and is very busy, buzzing about her daily life meeting each day with the limitless energy of a normal 2 year old.
Best friend to her 3 ½ year old sister Grace, the two enjoy playing ball, coloring, watching the Backyardigans, and both are avid “readers”. Together they are a force to be reckoned with, and keep Leonor, Mummy, Daddy, and everyone else who love and care for them on their toes! At this young age, Sophie has yet to develop many of the behavioral characteristics that are common to Sanfilippo children. Unable to control many of their impulses, they often exhibit very challenging behaviors, and find sleep somewhat elusive. While Sophie continues to sleep very well, she does have early challenges with transitioning between activities, and her tantrums when unable to get her way are a sight to behold!
To help Sophie manage her impulses as best she can, we are excited for her to be joining Centennial Infant & Child Centre in the Fall of 2010. This reverse-integrated school caters to children with a varying degree of physical and mental challenges, integrating them with normally-abled children and preparing them to stream to regular school when the JK years arrive. Our hopes for Sophie remain unchanged from that of any parent for a child. We want her to be happy, enjoying a life filled with joy, and to achieve as much as she is able with the many talents she continues to gain.