Simon Says "KCCO!"

Note from Chive Charities:
If you’ve found your way to this fundraiser, you’ve probably already fallen in love with Simon, an effervescent 5-year-old with big dreams and aspirations, who also happens to have a rare condition called Sanfilippo Syndrome. As the most devastating disease you’ve never heard of, Sanfilippo is a rapidly degenerative and fatal disease in children. There is currently no cure or treatment. Because of the dementia it causes, it is often likened to Alzheimers’ but in children. The first $15,000 of this fundraiser will go directly to Simon’s family to fund critical items and therapy that give Simon the best shot at a higher quality of life while extending his mobility for as long as possible. Anything beyond $15,000 will go to supporting promising research that could save Simon’s life and other kids with Sanfilippo Syndrome through the Cure Sanfilippo Foundation.

 

Simon’s birth, diagnosis, and prognosis:

After a healthy pregnancy, Simon was born in May of 2016! Parents, Alina and Jeremy, were elated and in love with their one and only miracle child. He was beautiful!

 

 

Simon was a happy baby with big smiles and great eye contact, but he had significant difficulty breastfeeding, wasn’t responding to his name or hitting his developmental milestones, and had developed repetitive play (i.e. spinning toys.) At first, his parents suspected Autism Spectrum Disorder, so they approached Simon’s pediatrician at 13 months of age.

 

 

This led to consulting with a pediatric neurologist who ordered a medley of tests. The results of all were thankfully normal, but left Alina and Jeremy without answers. In order to help Simon with his challenges, he began receiving physical, occupational, and speech therapies at 15 months of age. Alina also ramped up teaching Simon how to use sign language since he was nonverbal at this point.

 

 

After six months of intensive therapies, his pediatric developmental specialist assessed Simon as having only developed three months of skill. He had the skill level of a baby half of his age. This news destroyed his parents. They and the therapists had been working continuously to close Simon’s gaps in development. It's almost as if he was unable to progress any faster, but no healthcare professional, at that point, could provide a reason why.

 

 

Despite Simon’s delays and Alina and Jeremy’s feelings that something wasn’t quite right, they continued to focus on the positives: He was slowly making progress and achieving goals; Simon slept and ate well; and he affectionately connected with them through hugs, smiles, and laughter.

 

As Simon’s medical therapies continued, Alina and Jeremy pursued additional help for Simon. At 21 months of age, he began seeing a movement therapist to help him with his gross motor skills, craniosacral therapist to help him with his ability to speak, and chiropractor to adjust a newly-discovered head and neck bone jam. Simon began to move in ways that he wasn’t able to in infancy! It was beautiful to watch. His parents thought that they might have discovered the cause of his problems. But, they continued to pursue other possibilities as well.

 

 

At the recommendation of Simon’s pediatric developmental specialist, he underwent an Auditory Brainstem Response (ABR) test at 25 months of age. This revealed that Simon had mild-moderate hearing loss. Alina and Jeremy were shocked and confused because he had passed his newborn hearing screen, and had gross and fine motor delays - not simply speech problems. Simon began to wear hearing aids, and his receptive and expressive language skills had begun to blossom at that point. His parents thought that they might have discovered a secondary cause of his problems. But, they had one last possibility to investigate.

 

 

At 28 months, Alina and Jeremy consulted with a pediatric geneticist (after sitting on the appointment calendar for six months). She predicted that Simon had a metabolic storage disorder, and ordered a full body x-ray, abdominal ultrasound, and urine test. After two long weeks of waiting for the results, they were crushed by the news of Simon’s Sanfilippo Syndrome diagnosis at nearly 2.5 years of age. The urine test revealed the presence of elevated concentrations of glycosaminoglycans (GAGs), which meant that Simon could not break down this natural cellular waste. It had been accumulating in his body tissue since birth, and he had been abnormally excreting them in his urine. These accumulated molecules have been causing Simon’s cellular machinery to work improperly. Once enough of the toxic GAGs build up, his brain cells die and vital brain tissue is lost leaving him with permanent brain damage. Sanfilippo Syndrome is a rapidly degenerative and fatal disease in children, currently with no cure or treatment options. Because of the dementia that sets in, it is often likened to being like ‘late-stage Alzheimers’, just in little children.

 

 

Simon’s current enthusiasms and likes:

Simon has largely plateaued in his development. Despite his struggles, he is sweet, and most often, happy. Simon brings joy to those in his presence. He’s warm and loving.

Simon appreciates flags (such as the U.S. flag) and stop signs. He enjoys shooting hoops, running, playing catch, building with blocks, learning American Sign Language, playing on playground equipment, listening to storybooks, singing songs, hugging his stuffed animals, blowing bubbles, building jumbo floor puzzles, counting, saying the letters of the alphabet with the sounds that they make and words that begin with them, and spelling. His parents and therapists are working to maintain his skills for as long as possible, so that the quality of his life may remain for as long as possible.

 

 

The first $15,000 of this GFM will fund the following items for Simon and family:

 

Augmentative and Alternative Communication Device

The family is waiting for an evaluation from a therapist to determine which device will be the best fit for Simon, but here is an example of a device:

A portable symbol communicator, which can store up to 36 messages, has a total of six removable tactile symbols that allow the user to push a button to relay a message. As a tactile symbol communicator, it is perfect for users who are blind or visually impaired. We like this device because it offers six levels of communication, with six messages per level. When setting up this device, it provides up to six seconds of record time per message.

 

Weekly dinners at Casa De Luz

Simon’s favorite restaurant offers highly nutritious meals, a calm environment and happiness, contributing to a higher quality of life.

 

Spalding NBA Slam Jam Over-The-Door Team Edition Basketball Hoop

So Simon can keep playing basketball.

 

Adaptive Star Axiom Improv 2 Special Needs Stroller

While Simon can still thankfully walk and run, he fatigues easily and needs to rest and recover while sitting in a stroller before beginning to walk or run again. He’s outgrown his current stroller by exceeding weight and height maximums because typical strollers aren’t made for five-year-olds. The Adaptive Star Axiom Stroller will allow the family to continue to take Simon outdoors. It easily glides over grass, gravel, curbs, and sand.

 

Home Care Assistant

Simon requires near-constant engagement. His ability to play independently is extremely limited and, for safety reasons, needs supervision at all times. A mom's helper allows mom to complete household chores, errands, and self-care activities.

 

Rock Climbing at Crux Climbing Center

Simon has been learning to rock climb in physical therapy for one year now. He gets a full-body workout as well as improved flexibility, endurance, stamina, balance, and cardio fitness. It also focuses the mind, encourages body awareness, relieves stress, promotes ambition and personal challenge, fosters problem-solving, and builds confidence.

Kids Club at Crux Climbing Center is a great way to introduce kids to rock climbing in a fun and supervised environment. Their coaches teach kids about the fundamentals of rock climbing, including climbing techniques and general climbing safety. Simon will climb, play and make new friends!

 

 

Beyond $15,000, the GFM will support promising research that could save Simon’s life and other kids with Sanfilippo Syndrome:

The above items will all help with Simon’s immediate needs and quality of life today, and his parents are so thankful. Alina and Jeremy’s greatest hope is that Simon can live a long and fruitful life, and this is where their next need comes in. Beyond the immediate therapeutic needs, their biggest need is funding for promising research that could save Simon’s life.

 

What Simon needs most is a cure. While the therapies will help him hold on to abilities longer and live more comfortably, Sanfilippo Syndrome is impacting him every second. Without some type of intervention, Simon will lose his ability to shoot baskets as well as the ability to talk, walk, and eat. He will suffer extreme dementia, become wheelchair dependent, and likely have seizures. This will all happen in the coming years, worsening each year, before he likely passes away in his teens. Simon’s parents will do anything to stop this from happening.

 

Finding effective treatments to hopefully stop the disease is the goal. This happens when promising research that can lead to clinical trials for Simon and children like him is funded.

 

Simon’s an underdog. He shoots baskets like a superstar, but will he ever be able to be on a team? Kids with Sanfilippo Syndrome are underdogs fighting against a system that isn’t set up for rare diseases like this. Most large pharmaceutical companies aren’t interested in diseases like Sanfilippo due to the lack of profit opportunities. It’s left up to parents and parent-led advocacy groups like Cure Sanfilippo Foundation to drive and fund the research and even help get clinical trials started.

 

Cure Sanfilippo Foundation has already helped three clinical trials get underway in less than eight years. And there is hope that new promising research for Sanfilippo Type B (Simon’s type) can proceed to a clinical trial for him and other kids… if there is enough funding.

 

This isn’t funding for research in some distant day. There is research right now that could help Simon, and it needs funding.

 

 

Cure Sanfilippo Foundation has identified two new research pathways that could benefit Simon and other children with Sanfilippo. The first is a new therapeutic approach using CLR01 "molecular tweezers" that has shown promise in pre-clinical results in both Alzheimer's disease and Sanfilippo Syndrome. This therapy could reduce neuroinflammation and actually improve cognitive function for children with Sanfilippo. The second is a new stem-cell therapy project that has the potential to replace the missing enzyme for Sanfilippo Syndrome and could result in halting disease progression and bring neurorestorative benefits.

 

It’s a RACE to save these children’s abilities … and their lives. Nothing is more urgent than this. The more that can be raised here, the better the chances things can get going in a time window for Simon before his abilities diminish.

 

Simon’s parents talk a lot about hope. It is a good thing, and hope is really just love …. on a mission.

 

Thank you to the Chive community for being part of this life-saving effort for Simon and other children with Sanfilippo Syndrome. Please help support these efforts in funding this research led by the 501(c)3 nonprofit Cure Sanfilippo Foundation, and please share with everyone you can.