Patient and Physician Resources
PHOENIX NEST BIOTECH
ConnectMPS is a collaboration between leading MPS and Mucolipidosis (ML) organizations around the globe. Launched in 2014 with two advocacy organizations, this registry quickly expanded to 22 international advocacy groups by early 2016. In the summer of 2016, through a partnership with the National MPS Society, the ConnectMPS registry was rebranded to become a centralized, comprehensive global database that connects all stakeholders in the MPS and ML communities.
By coming together, we demonstrate our unity towards discovery of a cure and to offer researchers and industry the most efficient, uniform source for patient data to advance treatments.
If you or your child has Sanfilippo Syndrome please join the registry.
Open letter to Patients and Physicians
Dear Parents and Physicians:
I’m Jonah’s mom, founder of Jonah’s Just Begun-Foundation to Cure Sanfilippo Inc, now under the umbrella of the Cure Sanfilippo foundation and CEO of Phoenix Nest Inc. I’m writing this letter for parents and physicians in hopes to shed some light on the course of Sanfilippo syndrome that you might not glean from the literature. Furthermore, the literature doesn’t hit on everything that is important to a parent.
Physicians you might assume that mutations will guide you in disease progression and severity. This assumption does not always hold true. Affected siblings for example can progress very differently. One child might not ever potty train while the other does. Some kids might not produce any enzyme and are higher functioning than a child that is producing some enzyme.
I’d like to walk you through the motions of Jonah’s diagnosis and the symptoms that he had, still has, and or started to have. Jonah is 13.
Jonah was born in 2008, we did not notice anything amiss. He was meeting his milestones on time. At Jonah’s one year well visit we saw a new pediatrician. Our pediatrician remarked that Jonah’s head circumference was well above average. He referred back to the charts of Jonah’s first year of life and noted that Jonah’s head circumference was above average at birth and continued to grow. He recommended an MRI so we could rule out hydrocephaly. He sent us to a neurologist who agreed. What we didn’t know was that both of these doctors had a gut feeling that something else might be the cause of Jonah’s large head. I want to point out that the hallmark features of a Lysosomal Storage Disease (LSD) even with the mildest somatic features can be detected at birth.
Note, ten months had passed before we took Jonah in for an MRI. The MRI was performed at NYU Langone. The MRI showed findings of: Frontal bossing, a bone deformity consistent with the MPS’s, innumerable prominent dilated perivascular spaces in the cerebral hemispheric white matter, including several lesions in the corpus callosum and J-shaped sella. These findings were all consistent with the group of diseases called mucopolysaccharidosis (MPS).
Langone physicians recommended testing for all of the MPS’s. Our geneticist did this through Greenwood Genetics lab, it came back with elevated levels of Heparan Sulfate, which pointed towards MPS III, more commonly known as Sanfilippo syndrome. We next did an enzymatic test to find out which subtype, that came back MPS IIIC. Jonah was 22months at the time of diagnosis and to my knowledge is one of just a couple of babies diagnosed asymptomatic, without an older brother or sister diagnosed first. From my experience I would guestimate the average age of diagnosis for MPS IIIC, to be ~8. In the literature subtypes C and D are considered less severe than A and B. They are also noted as being rarer. I would agree on both of these findings. However as mentioned in my opening statement, these diseases are heterogeneous. Even between subtypes, a type C child can be just as severe as a type A child. I have also noticed a difference between severity of type C children from different geographical locations.
We were asked to take Jonah to numerous medical appointments: ENT, GI, MRI of the spine, head to toe X-rays, sleep study, cardiologist, allergist and ophthalmologist. At that time, the sleep study, allergist and ophthalmologist appointments had no findings to report.
Jonah’s ear canals were filled with fluid, he had grommets put in for drainage. His adenoids were removed as well. The cervical spine MRI showed that the odontoid process as being small and sclerosed, meaning his top vertebrae was not formed properly. The echogram of his abdomen showed that he had hepatosplenomegaly, his liver and spleen were enlarged. The X-rays showed a couple of minor bone deformities, flared ribs and a raised sternum. A physical examination determined that he had ankle clonus.
Between the ages of 1-4 Jonah suffered from numerous sinus infections, the worst being at 1 year of age. His ear infections are still frequent but have subsided some over the years. His nose no longer runs constantly. Jonah’s mucus is quite thick and sticky which is MPS related. Jonah developed seasonal allergies, that must be treated. His allergies present with puffy seeping eyes, nasal drip and sneezing. You can hear the phlegm in his throat. From the age of 2 until now Jonah suffers from chronic diarrhea. Note, the diarrhea does not cause him stomach pain.
As a toddler Jonah was extremely active, he was a runner and fearless. He was very curios, he got into everything. He also threw the world’s most epic temper-tantrums. Throwing himself down on the ground kicking and screaming, he’d do it anywhere. He did this when he wanted to do something and was told he couldn’t. He has oppositional defiance disorder, which has recently started to subside. We took him to an ABA therapist who helped my husband and I by teaching us how to manage the behaviors. We were able to break him from the temper-tantrums.
Jonah’s hair was fine and silky for the first three years of life, it quickly became thick and coarse. His lower half is abnormally hairy. Physicians and even hairdressers should take note of this change. A Sanfilippo child’s hair is nowhere near normal, it appears extremely damaged. A hairdresser once commented that Jonah must live in a swimming pool.
Sanfilippo children are almost always diagnosed as autistic before receiving a Sanfilippo diagnosis. Physicians, if your autistic patient has frontal bossing, coarse hair and is sociable, please test for MPS III.
Jonah hit puberty a little bit early, he was around 10. I don’t know if it was puberty or just Sanfilippo that brought on the aggressive behavior. His moods swung on a dime he’d go from sweet little boy to the Incredible Hulk in the blink of an eye. This lasted for a few years. It was usually triggered by being told no. Diligent ABA methods and a consistent schedule helped. Mood altering drugs had some affect when he was a toddler but stopped helping by elementary school.
Jonah has never had any seizures, nor does he have sleep issues. He did have infrequent night terrors until he was about 5. Jonah has also never had the disturbing episodes of inconsolable laughing or crying. These episodes fit into the description of Pseudobulbar Affect (PBA), but the underlying cause is not known. These PBA-like episodes are not well documented in the literature either. Parents search relentlessly for a medical explanation, sadly their physicians don’t usually come up with a definitive diagnosis. The frequency of these episodes is unpredictable, it may happen once and never again.
There are a few papers published that discuss retinitis pigmentosa in Sanfilippo children and attenuated adults. Out of curiosity I requested that Jonah have an ERG and OCT, these are not easily performed on Sanfilippo children who have a hard time sitting still. We did get a couple of good images of his retina; he has cystoid macular edema.
When Jonah received his diagnosis he qualified for early intervention, we had in home speech therapy and physical therapy. I wish we would have had OT from the start, Jonah has a hard time with motor planning. He had his first set of tubes also called grommets placed in his ears at 2 years of age. We didn’t know that he could not hear well, his ENT said that Jonah’s hearing was as bad as someone trying to hear underwater. At that time Jonah was meeting his milestones and had several words. When the tubes were placed, we noticed an immediate improvement. He started pointing noises out, a plane, a motorcycle, baby crying, noises that he had not asked about before. After 2 sets of grommets, he had T-tubes, those were removed around 9 or 10 and he started wearing hearing aids, he is said to have mild-moderate hearing loss. Jonah also wears glasses.
Jonah began pre-school at 3 years of age, he received speech therapy 5 days a week! He also had OT and PT. He still has speech therapy he goes 3x30 a week and OT 3x30, he will resume PT again this coming year. His motor planning and sense of self-awareness while he walks has never been normal. He’s now a bit knock-kneed and his gait is off. Jonah stopped with the fearless running by the time he was 6. He is aware of traffic and stops at crosswalks.
He has irrational fears, he is uncomfortable around dogs. He does not like Halloween, he is wary of the costumes. I mention this minor hallmark because some kids have profound irrational fears. Running into the street to avoid walking by a dog. The literature always describes Sanfilippo children as fearless, there is a difference.
Otherwise Sanfilippo children are very sociable, curious and affectionate children. However, they are impulsive, throwing anything that strikes their fancy, they’ll grab whatever they want too, that includes strangers. Some kids have sensory seeking needs. Sucking on their shirts or a toy. Jonah excessively picks his fingers, toes and nose. Another child might like tearing shreds of paper, another the feel of someone else’s hair. Jonah used to lick anything from a subway mural to a stranger’s arm. It has gotten a lot better, but he still has compulsions. I recently caught him licking the bottom of his shoe. Germs are nerve wracking for Sanfilippo parents, upper respiratory infections easily lead to pneumonia. Older children don’t always survive pneumonia. Other times children don’t bounce back from an acute infection.
Physicians, I’d like one of your takeaways to be on the importance of early diagnosis. Because of Jonah’s early diagnosis we were able to save his hearing, at 13 Jonah’s language is well above average. He can speak full sentences and he can read at a first-grade level. If he had not been diagnosed at 2, he would not have received immediate early intervention therapies, he would not have qualified to attend a private pre-school at no cost. Emotionally and financially my husband and I are in a much better place than we would have been if Jonah had received his dx at 8. We were able to make major life decisions for our family, we could have had three affected children. We chose our home and made career choices that accommodated Jonah’s health and educational needs. I have noticed that physicians don’t always think along these lines, not wanting to tell a parent of a newborn that their child has an untreatable terminal illness. Assuming instead that ignorance is bliss. It isn’t blissful to wonder why your child is not like their siblings or the other kids at the playground. Feeling like a bad parent because their child runs down the grocery store isle knocking food off the shelves. Getting kicked out of schools. Physicians, lease don’t try to spare a parent’s feelings, we’re going to find out eventually, might as well be before it’s too late.
Parents and physicians, this is not a comprehensive list of every symptom and I’m not advocating or advising on any medical interventions. I do believe that early interventional therapies are critical. Please refer to the literature for more information. The Cure Sanfilippo Foundation and the MPS Society are also of particular help.
Jill Wood (Jonah’s proud Mother)
By joining AllStripes, you can contribute your de-identified medical records to multiple research efforts for Sanfilippo syndrome without leaving home. We do the work to collect your information, and you’ll receive all your records in your secure account, at no cost.
We are dedicated to empowering the rare disease patient community to advocate for impactful, science-driven legislation and policy that advances the equitable development of and access to lifesaving diagnoses, treatments and cures.
A Global MPS and ML patient registry, founded by: Jonah’s Just Begun-Foundation to Cure Sanfilippo Inc, Ben’s Dream and the National MPS Society and supported by over 20 Sanfilippo organizations across the globe.
Cure Sanfilippo Foundation
Cure Sanfilippo Foundation architects and funds cutting-edge research to accelerate discovery of a treatment or cure for Sanfilippo Syndrome so parents can dream of their children’s futures again.
Mission Hide and Help
A campaign developed by patient organization, Jonah’s Just Begun. An effort to alert and educate primary caregivers, clinicians and the general public about to the signs of Sanfilippo syndrome.
National MPS Society
The National MPS Society is a non-profit organization dedicated to acting as a support group for families affected by mucopolysaccharidoses (MPS), mucolipidoses (ML) and other related disorders; increasing professional and public awareness; and raising funds to further research into such disorders.