'Max the Brave' MPS II/Hunter Syndrome
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We want to FUND a CURE for MPS II/Hunter Syndrome... And we need your HELP!!! Erasmus MC Academic Hospital/Sophia Children's Hospital is currently Researching 'Gene Therapy'... Gene therapy is a revolutionary approach to treating genetic diseases. It involves a one-time delivery of a normal copy of the defective gene which ideally causes the body to naturally produce the missing enzyme. It is the most promising ‘cure’ that these boys desperately need. And we are raising money for Research and donating 100% of the proceeds to Erasmus MC Academic Hospital/Sophia Children's Hospital where Max is currently receiving ERT (Enzyme Replacement Therapy).
What is Mucopolysaccharidose or MPS II/Hunter Syndrome?
Think of it this way: when your garbage can gets full, you take out the trash. But what if you can’t? What if bag after bag fills up, taking over your kitchen? Soon, it would be hard to walk around, cook, or clean. As the trash builds even higher, your kitchen becomes unusable. Similarly, children with Mucopolysaccharidosis Type II (MPS II), also known as Hunter Syndrome, are unable to make the enzyme that takes care of our cellular garbage, their bodies becoming like the kitchen in this example.
HOW DO YOU RECOGNIZE HUNTER SYNDROME?
Hunter Syndrome is a rare genetic disease that is progressively debilitating, life-limiting and without a cure. It occurs almost exclusively in males and currently affects approximately 500 boys in the U.S. and less than 2,000 worldwide. Individuals with Hunter Syndrome have a defect in the gene that normally causes the body to make the enzyme iduronate-2-sulfatase (I2S) – the “garbage man” – which is responsible for the breakdown of cellular waste called glycosaminoglycans or GAGs – the cell’s “garbage.” Without that necessary enzyme, the accumulation of these GAGs leads to progressive damage throughout the entire body.
Though the disease is present at birth, symptoms become more apparent as the accumulation of GAGs builds within the body, triggering a diagnosis usually between 2 to 4 years old. Most boys with Hunter Syndrome continue to develop physically and cognitively until between the ages 2 and 5 and then begin regressing. These boys gradually lose the ability to talk, walk and eat. Most do not live to see their teen years. Approximately 20% of those affected by Hunter Syndrome do not suffer cognitive impairments or regression and may have normal intelligence but a continuum of physical symptoms.
CAN HUNTER SYNDROME BE CURED?
No cure exists for Hunter Syndrome. Currently, the only FDA-approved treatment on the market, enzyme replacement therapy (ERT), is able to stabilize many of the physical symptoms of Hunter Syndrome. However, as it cannot cross the blood-brain barrier, it is unable to prevent cognitive regression, meaning the child will continue to decline to an infantile state.
HOW COMMON IS HUNTER SYNDROME?
Hunter Syndrome (Mucopolysaccharidosis/MPS II) is a rare condition affecting between 1 in 100,000 to 1 in 150,000 male births, although it is estimated that the grouping of MPS conditions collectively affect 1 in 25,000 births in the United States (MPS conditions include MPS I, II, III, IV, VI, VII and ML II and III).
TREATMENT...
Gene therapy is a revolutionary approach to treating genetic diseases. It involves a one-time delivery of a normal copy of the defective gene which ideally causes the body to naturally produce the missing enzyme. It is the most promising ‘cure’ that these boys desperately need.
Thank you to Project Alive (www.projectalive.org)
The Story of Maximus Xavier Bijl (as I like to call him 'Max the Brave')
Maximus, a true Pisces was born into water, in our home, on the beautiful island of Maui, Hawaii. His entrance into this world was gentle, but very quick. Amidst the relief of his (big head) being born, a wave of pure relief came over me. "I did it (again)!!!" Shocked to hear my midwife say "Come on, push!" with a slight look of 'panic' in her eyes. Maximus was a BIG BOY (almost 9lbs). While he had a little trouble navigating his broad shoulders out, he was born without complications or concern. "Another 'healthy' baby boy"!!! Due to his entry earth side, Max immediately received Cranial Sacral therapy. He had a lot of 'reflux' (aka puking up all my precious milk) in the early days, so we continued to see a Chiropractor who specialized in newborns/children. Occasionally, when needed, Max saw a Naturopath for the common cold/illness. We lived a pretty holistic life living on a tropical island in the middle of the Pacific Ocean. We were 'those people'... I exclusively breastfeed (on demand), co-slept, and wore him on me as much as possible.
As soon as Max was 6 weeks old we made our first trip across the land and sea to Europe (The Netherlands) to visit Opa & Oma. We continued to travel quite a bit and went back and forth from Maui, Hawaii to Europe several times.
Eventually, I noticed Max favored breastfeeding on one side... When I wore him on me he'd always turn his head to the same side. When I tried to lay him flat he'd protest! He really only slept (like ever) in the car, on me, or moving in the stroller. But I thought this was pretty 'normal'. Eventually I noticed a slight difference from one side of his face to the other (called facial asymmetry). So we made an appointment to see an Osteopathic Doctor.
And so it continued and life went on as life does... Manual Therapist one after the next, from Chiropractors to Osteopaths to Holistic Doctors to Naturopaths and so on...
One day, when Max was about 2 years old. A friend of a friend approached me at the lakeside where we were spending the day. He said "Can I ask you about the Birth of your son?" Of course, I was taken back and asked "Why?" and he further explained he was the owner of a Medical Facility and worked closely with many specialized Manual Therapists and thought to have some insight on Max. Before I knew it he presented me with a iPad with a long list of "symptoms"
- development of asymmetric skull
- difficulty in swallowing and a tendency to vomit
- frequent tears of protestation when getting dressed and undressed
- always sleeps in the same position
- head tilted to one side
- normal sucking and swallowing reflex
- poor appetite, difficulties in feeding/eating. The infant feeds normally at the breast but refuses anything else and cries constantly…
- the child cries a lot and sleeps badly
- the child tries to stand up very early
- the child skips the crawling stage
- the child is late learning to walk
- neck straight and flattened
- exaggerated extension of one foot
- difficulty holding the head straight and erect
- generally weak muscle tone
- problems with balance
- the child falls or staggers frequently
- it always or frequently walks on tiptoe
- sleep problems: difficulty falling asleep, frequent waking up, restless sleep, little sleep…
- changes in behaviour: easily discouraged, temper tantrums, uncertainty, nervousness, demanding a lot of attention
- very slow general and fine motor function development
- delay in learning words
I started to feel the burn as tears started to form and tightening in the back of my throat... "What is this?" I asked. He replied "I think Max has KISS syndrome (KISS A German acronym is also known in English as “Kinetic Imbalances due to Suboccipital Strain”. This means that there are functional problems with the upper vertebrae of the neck which can disturb the symmetrical development of the baby or the growing child.)
He referred us to a specialized "Fysio" Physical Therapist that worked with babies and children with KISS at his facility. We had a series of appointments with him and witnessed our child scream in pain, agony and discomfort each and every time. It got worse and worse until we couldn't bear it any longer. We'd give up and just nurture him and let him be. Then get inspired again by someone we'd met or something we'd read. We see another doctor and another on again and off again with no real progress for years.
Until one day while searching for a Homeopathic Pediatrician I found Dr. Buskin in Wassenaar, NL. We waited, for what seemed like months, to see him and when we did Max was in a terrible mood. He just wasn't himself (exhausted and fixated on the turtle hatching from his egg that I had just bought him a the Zoo's gift shop). Dr Buskin had a lot of patience and asked us a lot of questions but didn't get the best impression of our almost 5 year old son. He said he could offers lots of remedies and homeopathies and start a long journey of trying to 'help' us and Max... But he notices some "soft signs" and would like to refer us to a Neurologist at Juliana Children's Hospital, Den Haag.
On July 20th 2018 after waiting for what felt like years, we had an appointment with Dr. Snoeck. After about 10-15mins of talking to us, she said "I think I know what Max has... But I need to be sure and we need to run some tests". She needed a Urine sample, Blood work and an Ultrasound of his chest/abdomen. We complied. It was the longest day of my life...
We were referred to a Geneticist later that afternoon, who too confirmed "I agree with Dr. Snoeck, I know what he has... Has she told you anything yet about his diagnosis"? "Umm, NO!" but the panic had already arise... This wasn't just some "soft sign" of Autism or Developmental Delay... This was much much worse. But I couldn't even fathom how much worse.
"I believe your son, Max, has Mucopolysaccharidose or MPS" I can still hear the ringing in my ears (even though I hadn't a clue what the bleep that meant)... and a full blown panic attack just below the surface. I don't remember much in the moments or hours that proceeded that "conversation" only the sad look in her eyes and that she kept saying to me "This is just too much for you... You've already gone through so much" Referring to my Mom (Brain Tumor) my Best Friend (Cancer), my Sister (Brain Tumor) and now... My son!
Signs and symptoms of MPS may include:
An enlarged head (macrocephaly)
Thickening of the lips
A broad nose and flared nostrils
A protruding tongue
A deep, hoarse voice
Abnormal bone size or shape and other skeletal irregularities
A distended abdomen, as a result of enlarged internal organs
Umbilical hernia
Joint stiffness
Aggressive behavior
Stunted growth
Delayed development, such as late walking or talking
Amidst the blur, I do remember leaving the Hospital with a 20 page print out of MPS while we awaited the official confirmation of "type" and severity. Reading through those pages was agonizing. I got the call about a week later at around 10:00pm... It was Dr. Snoeck "It's MPS II/Hunter Syndrome." I dropped to my knees and cried (again, but this time a lot harder and louder). It was real. It was confirmed. It wasn't a mistake or misdiagnosis like I had hoped and prayed.
They say there's 5 stages of grief
-Denial & Isolation
-Anger
-Bargaining
-Depression
-Acceptance
I still teeter on the edge of denial & isolation... I still have a lot of anger. I bargain by the hour and can say I often feel depressed. Thank god, for Yoga and the community where I practice and teach. It's been my lifeline.
I'm still awaiting the acceptance stage... I just have to have faith that one day that will come.
What is Mucopolysaccharidose or MPS II/Hunter Syndrome?
Think of it this way: when your garbage can gets full, you take out the trash. But what if you can’t? What if bag after bag fills up, taking over your kitchen? Soon, it would be hard to walk around, cook, or clean. As the trash builds even higher, your kitchen becomes unusable. Similarly, children with Mucopolysaccharidosis Type II (MPS II), also known as Hunter Syndrome, are unable to make the enzyme that takes care of our cellular garbage, their bodies becoming like the kitchen in this example.
HOW DO YOU RECOGNIZE HUNTER SYNDROME?
Hunter Syndrome is a rare genetic disease that is progressively debilitating, life-limiting and without a cure. It occurs almost exclusively in males and currently affects approximately 500 boys in the U.S. and less than 2,000 worldwide. Individuals with Hunter Syndrome have a defect in the gene that normally causes the body to make the enzyme iduronate-2-sulfatase (I2S) – the “garbage man” – which is responsible for the breakdown of cellular waste called glycosaminoglycans or GAGs – the cell’s “garbage.” Without that necessary enzyme, the accumulation of these GAGs leads to progressive damage throughout the entire body.
Though the disease is present at birth, symptoms become more apparent as the accumulation of GAGs builds within the body, triggering a diagnosis usually between 2 to 4 years old. Most boys with Hunter Syndrome continue to develop physically and cognitively until between the ages 2 and 5 and then begin regressing. These boys gradually lose the ability to talk, walk and eat. Most do not live to see their teen years. Approximately 20% of those affected by Hunter Syndrome do not suffer cognitive impairments or regression and may have normal intelligence but a continuum of physical symptoms.
CAN HUNTER SYNDROME BE CURED?
No cure exists for Hunter Syndrome. Currently, the only FDA-approved treatment on the market, enzyme replacement therapy (ERT), is able to stabilize many of the physical symptoms of Hunter Syndrome. However, as it cannot cross the blood-brain barrier, it is unable to prevent cognitive regression, meaning the child will continue to decline to an infantile state.
HOW COMMON IS HUNTER SYNDROME?
Hunter Syndrome (Mucopolysaccharidosis/MPS II) is a rare condition affecting between 1 in 100,000 to 1 in 150,000 male births, although it is estimated that the grouping of MPS conditions collectively affect 1 in 25,000 births in the United States (MPS conditions include MPS I, II, III, IV, VI, VII and ML II and III).
TREATMENT...
Gene therapy is a revolutionary approach to treating genetic diseases. It involves a one-time delivery of a normal copy of the defective gene which ideally causes the body to naturally produce the missing enzyme. It is the most promising ‘cure’ that these boys desperately need.
Thank you to Project Alive (www.projectalive.org)
The Story of Maximus Xavier Bijl (as I like to call him 'Max the Brave')
Maximus, a true Pisces was born into water, in our home, on the beautiful island of Maui, Hawaii. His entrance into this world was gentle, but very quick. Amidst the relief of his (big head) being born, a wave of pure relief came over me. "I did it (again)!!!" Shocked to hear my midwife say "Come on, push!" with a slight look of 'panic' in her eyes. Maximus was a BIG BOY (almost 9lbs). While he had a little trouble navigating his broad shoulders out, he was born without complications or concern. "Another 'healthy' baby boy"!!! Due to his entry earth side, Max immediately received Cranial Sacral therapy. He had a lot of 'reflux' (aka puking up all my precious milk) in the early days, so we continued to see a Chiropractor who specialized in newborns/children. Occasionally, when needed, Max saw a Naturopath for the common cold/illness. We lived a pretty holistic life living on a tropical island in the middle of the Pacific Ocean. We were 'those people'... I exclusively breastfeed (on demand), co-slept, and wore him on me as much as possible.
As soon as Max was 6 weeks old we made our first trip across the land and sea to Europe (The Netherlands) to visit Opa & Oma. We continued to travel quite a bit and went back and forth from Maui, Hawaii to Europe several times.
Eventually, I noticed Max favored breastfeeding on one side... When I wore him on me he'd always turn his head to the same side. When I tried to lay him flat he'd protest! He really only slept (like ever) in the car, on me, or moving in the stroller. But I thought this was pretty 'normal'. Eventually I noticed a slight difference from one side of his face to the other (called facial asymmetry). So we made an appointment to see an Osteopathic Doctor.
And so it continued and life went on as life does... Manual Therapist one after the next, from Chiropractors to Osteopaths to Holistic Doctors to Naturopaths and so on...
One day, when Max was about 2 years old. A friend of a friend approached me at the lakeside where we were spending the day. He said "Can I ask you about the Birth of your son?" Of course, I was taken back and asked "Why?" and he further explained he was the owner of a Medical Facility and worked closely with many specialized Manual Therapists and thought to have some insight on Max. Before I knew it he presented me with a iPad with a long list of "symptoms"
- development of asymmetric skull
- difficulty in swallowing and a tendency to vomit
- frequent tears of protestation when getting dressed and undressed
- always sleeps in the same position
- head tilted to one side
- normal sucking and swallowing reflex
- poor appetite, difficulties in feeding/eating. The infant feeds normally at the breast but refuses anything else and cries constantly…
- the child cries a lot and sleeps badly
- the child tries to stand up very early
- the child skips the crawling stage
- the child is late learning to walk
- neck straight and flattened
- exaggerated extension of one foot
- difficulty holding the head straight and erect
- generally weak muscle tone
- problems with balance
- the child falls or staggers frequently
- it always or frequently walks on tiptoe
- sleep problems: difficulty falling asleep, frequent waking up, restless sleep, little sleep…
- changes in behaviour: easily discouraged, temper tantrums, uncertainty, nervousness, demanding a lot of attention
- very slow general and fine motor function development
- delay in learning words
I started to feel the burn as tears started to form and tightening in the back of my throat... "What is this?" I asked. He replied "I think Max has KISS syndrome (KISS A German acronym is also known in English as “Kinetic Imbalances due to Suboccipital Strain”. This means that there are functional problems with the upper vertebrae of the neck which can disturb the symmetrical development of the baby or the growing child.)
He referred us to a specialized "Fysio" Physical Therapist that worked with babies and children with KISS at his facility. We had a series of appointments with him and witnessed our child scream in pain, agony and discomfort each and every time. It got worse and worse until we couldn't bear it any longer. We'd give up and just nurture him and let him be. Then get inspired again by someone we'd met or something we'd read. We see another doctor and another on again and off again with no real progress for years.
Until one day while searching for a Homeopathic Pediatrician I found Dr. Buskin in Wassenaar, NL. We waited, for what seemed like months, to see him and when we did Max was in a terrible mood. He just wasn't himself (exhausted and fixated on the turtle hatching from his egg that I had just bought him a the Zoo's gift shop). Dr Buskin had a lot of patience and asked us a lot of questions but didn't get the best impression of our almost 5 year old son. He said he could offers lots of remedies and homeopathies and start a long journey of trying to 'help' us and Max... But he notices some "soft signs" and would like to refer us to a Neurologist at Juliana Children's Hospital, Den Haag.
On July 20th 2018 after waiting for what felt like years, we had an appointment with Dr. Snoeck. After about 10-15mins of talking to us, she said "I think I know what Max has... But I need to be sure and we need to run some tests". She needed a Urine sample, Blood work and an Ultrasound of his chest/abdomen. We complied. It was the longest day of my life...
We were referred to a Geneticist later that afternoon, who too confirmed "I agree with Dr. Snoeck, I know what he has... Has she told you anything yet about his diagnosis"? "Umm, NO!" but the panic had already arise... This wasn't just some "soft sign" of Autism or Developmental Delay... This was much much worse. But I couldn't even fathom how much worse.
"I believe your son, Max, has Mucopolysaccharidose or MPS" I can still hear the ringing in my ears (even though I hadn't a clue what the bleep that meant)... and a full blown panic attack just below the surface. I don't remember much in the moments or hours that proceeded that "conversation" only the sad look in her eyes and that she kept saying to me "This is just too much for you... You've already gone through so much" Referring to my Mom (Brain Tumor) my Best Friend (Cancer), my Sister (Brain Tumor) and now... My son!
Signs and symptoms of MPS may include:
An enlarged head (macrocephaly)
Thickening of the lips
A broad nose and flared nostrils
A protruding tongue
A deep, hoarse voice
Abnormal bone size or shape and other skeletal irregularities
A distended abdomen, as a result of enlarged internal organs
Umbilical hernia
Joint stiffness
Aggressive behavior
Stunted growth
Delayed development, such as late walking or talking
Amidst the blur, I do remember leaving the Hospital with a 20 page print out of MPS while we awaited the official confirmation of "type" and severity. Reading through those pages was agonizing. I got the call about a week later at around 10:00pm... It was Dr. Snoeck "It's MPS II/Hunter Syndrome." I dropped to my knees and cried (again, but this time a lot harder and louder). It was real. It was confirmed. It wasn't a mistake or misdiagnosis like I had hoped and prayed.
They say there's 5 stages of grief
-Denial & Isolation
-Anger
-Bargaining
-Depression
-Acceptance
I still teeter on the edge of denial & isolation... I still have a lot of anger. I bargain by the hour and can say I often feel depressed. Thank god, for Yoga and the community where I practice and teach. It's been my lifeline.
I'm still awaiting the acceptance stage... I just have to have faith that one day that will come.
Organizer
Maggie Bijl
Organizer
Maasdijk, NL
