Mia had MPSIIIC, not autism #CUREmps

In an effort to raise awareness for Sanfilippo Syndrome, I have asked other parents to write their diagnosic odyssey.  Myself and the entire Sanfilippo community believes that there are many many more children out there that are living under the wrong diagnosis, many times Autism, the catch all for cognitive delay.  My obsession with getting these children diagnosed early is twofold. First off an early diagnosis helps families receive services faster and palliative care can be instrumental. Secondly, bug pharma is reluctant to develop treatments for Sanfilippo because our patient population is small and therefore not a money maker.  

JJB hopes that Mission: Hide and Help, will bring more patients forward. Thanks ahead of time for sharing! https://missionhideandhelp.org/

-Mia's story-

 
Mia didn't hit her mile-stones after birth, so we kind of knew there was a problem early on.  When she was born, she had respiratory depression and had to be taken to the Intensive Care Nursery for a week.  She just could not get the concept of suck, swallow, breathe down pat.  We were able to get her enrolled in Early Intervention Services and in Easter Seals for speech therapy and she made progress.  At University of Tennessee, she had lots of testing done and was diagnosed with severe mental retardation before age 3.  Her head circumference was in the 98th percentile, but my head circumference was in the 95th percentile, so it seemed an insignificant finding at the time. 

A year later, a neurologist friend of mine wondered why they never did an MRI of Mia's head, so she ordered that and found that Mia had Arnold Chiari Type I Malformation of the brain and a Mega Cisterna Magna. She suggested more testing, so at age 4, we took her to the University of Chicago for further testing. At that time her severe mental retardation diagnosis was reconfirmed and she had a dual diagnosis of PDD-NOS.  We were told that she would never be able to live on her own and given lots of platitudes.  We asked for a referral to a pediatric neurologist because Mia's Primary Care physician was ignoring my reports of seizures.  Only my immediate family witnessed Mia have them and they were confined to the left side of her body.  She was not particularly post ictal for a significant amount of time, so her health care providers gave no credence to our claims that Mia had developed a seizure disorder. 

A few short months after the testing at U of C, we took her to see Dr. Peter Huttenlocher at University of Chicago.  He walked in to the exam room with a medical student and 4 residents and took one look at Mia and told my husband and I that he was sure Mia had a disease called Sanfilippo Syndrome.  At that time, in 1997, there were only a couple labs that did the urine testing for the syndrome, so it took a few weeks to get that set up with instructions on how to ship to University of Illinois, Circle Campus in Chicago.  Months went by and no word.  The specimen was lost. so we started over.  A couple more months went by and we received confirmation that Mia indeed had Sanfilippo Syndrome, Type C. 

I will say that keeping the Autism (PDD-NOS) diagnosis was suggested by Dr. Huttenlocher.  He informed us that Mia would be eligible for many more services with a diagnosis of Autism, and he was correct.

R.I.P. Mia 5-21-93 to 3-24-13

 https://youtu.be/lwui53EyL6Y

Lace didn't have autism, it was MPSIII

Hello -- My daughter Lace, born in 2005, was diagnosed autistic in 2009, then re-diagnosed in 2015 as MPS IIIA. There was a lot of waste effort and money spent on the wrong things, and a lot of opportunity that might have strengthened her lost. As was the chance to advocate and support better research and cure development.

All the best,
Tim
CA

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Jonah was diagnosed MPSIII C out of the blue at 2 years old, he was asymptomatic. The early diagnosis saved his hearing. Our doctors sent us to an ENT upon diagnosis and said he'd need ear tubes. Jonah was hearing at 50%, the fluid drained out. He could then hear, he was assigned a speech therapist and started early intervention preschool.  Upon diagnosis we were told that Sanfilippo caused hearing loss and most children never developed their speech because of cognitive issues.

Last week Jonah won an award for the poem:

Soccer Player

I scored a goal.
The ball went into the net.
I run after the ball.
My feet smash the grass.
Oh yeah!  

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Early diagnosis is crucial!  Please participate in Mission: Hide and Help.  All of our Sanfilippo children should have the same opportunity to early intervention and palliative care. https://missionhideandhelp.org/

Please share with everyone, everywhere. 

Thanks,

Jill