National MPS Society, The Journey of Hope

Austin was very happy yeah running around physically active he was just like any normal two-year-old you don’t have this thought others this big issue from seven to age 13 mini misdiagnosis they daddy had muscular dystrophy they thought he had just a host of different things we walked in and there was like eight doctors and white coats and I thought this is really weird like what is going on and then he said your son has MPs you’re scared to death you know for him and you just don’t know what to expect we had never heard of mu khalipa dosis we had never heard of any even the word storage disease okay so what do we do tell me where I need to go to get the treatment to fix it this was my biggest thing let’s fix this everyone silent in the room and when they say well there’s no treatment and there’s nothing we can do in fact the prognosis is terminal you kind of go numb and you sort of sorry um you just you don’t really want to believe it your body is full of different enzymes these are the hammers the screwdrivers the saws these are the pieces of tools that help you build your body and break it down and so depending on which ones you’re missing you have a different effect on the body mucopolysaccharidosis mu khalipa doses are progressive diseases a child is unable to remove the waste from their cells those cells begin to implode swell up create storage throughout the entire body heart gets bigger and their features get Korres their lips get bigger their airway gets bigger and coarse and tight their lungs get full of this stuff and it’s almost like they have asthma their joints get restricted and they can’t straighten them and then in the brain this happens as well and it causes progressive intellectual disability we don’t really know what is it about the mutation or the amount of storage material that determines why someone has neurologic disease and some other patients don’t they’re born normally they’ll gain normal milestone so your child will learn to talk your child will learn to walk and then progressively lose those things he knew a lot of visit letters the colors animal sounds physically was able to kick a soccer ball forever you know in the backyard and the San Filippo child a lot of the cells that end up being damaged are in the brain when he was you know about seven and a half years old he became almost completely nonverbal Austin’s maximum kind of mental development capped out about two and a half years old now today he would score about it at the one and a half year old level even though he’s nine nine and a half years old the parents are watching their child deteriorate in front of their eyes and are powerless and most of the time to do anything about it Spencer did walk he would run play baseball just like a lot of the other kids since it’s a progressive disease all of that is just you know gotten his condition has gotten worse and he’s been in a wheelchair since 3rd creighton he’s a freshman in high school now he’s got a lot of joint issues and joint pain his hips are permanently dislocated he’s got a heart condition it’s got some problems with his lungs most of it is all physical we’ve been very lucky and blessed that he hasn’t been affected developmentally which I’m about these I finish Spencer and his sister very close her role I think she figured it out herself has been his protector sometimes when I wake up at night when my lakers sometimes my mom and dad don’t wake up right away sure she’ll scream and tell them that Spencer needs help ilike to root for my sister when she plays her soccer or stuff that she is interested in because she can probably go really far like even though he has that cane every day couldn’t smile on his face he’s always happening encouraging me I tried to encourage him there is no treatment or cure for his condition unlike some of these disorders it’s just keeping the kids comfortable in dealing with whatever orthopedic or health issues that come up dr. nufeld had been working on the MPS disorders for 30 years now we were at that threshold at that moment when you could do something about this disease it turned out to be difficult but starting in 1991 we were able to get to the first patient in 1997 when the enzyme is administered intravenously it gets into cells it allows the cells to function more normally today we have treatments for a ps1 and ps2 MPs six enzyme replacement therapy has to be given for life it’s not a cure but it’s able to put some halting to the disease’s progression can you say that it’s a life-saving treatment yes definitely they both take their IV pumps back to their bedroom and they go to sleep and when the treatments over they want to be unhooked so they can go to Disneyland or whatever else they have planned for that day it’s kind of weird because like the grim reality of it is that most people afflicted with this don’t live past you know their early 20s so I’m now 24 and you’ve essentially been given a second chance a new lease on life currently we don’t have a treatment for MPS 4a 4b for NPS 74 m ps3 and from you Clifford OSIS works specifically testing grumpiest for more Keogh for a at this point if the data looks good and supports approval sometime late 2013 who would be a therapy available the reality is that there are still some symptoms that don’t respond well to enzyme and in particular we still have not yet treated the brain it is harder to treat the brain than it is to treat physical disease what the blood-brain barrier is designed to do is to keep things out to protect the brain cells but what it also does is it keeps mechanisms out that you want to cross the blood-brain barrier can’t get in we’re working on a way to develop an enzyme treatment using the cerebral spinal fluid as a delivery system that’s a major issue that researchers should struggle with right now as far as looking at pictures when they were younger it’s it’s difficult Russell used to smile and laugh and you know he used to run he lost his mobility like about he was 9 she’s starting to now lose her mobility as well she’s not jumping on a trampoline anymore and we had to put Russell to wheelchair in and then about less than a year later we had to put a minute with a feeding tube because he quit being able to use the muscles and she’s starting to do that now everything just a trapeze is devastating it is absolutely heartbreaking to know that the natural order of things is not going to be followed that is children bury their parents parents don’t bury their children and in most of these MPs families it is the latter as it was in my family as far as treatment goes for MBS 3 it’s a race against time hope and believe it in praying for it every day the mission of the National mps society is to find treatment and cures for the MPs and MLAs orders and also to support families by having national meetings and and also supporting local meetings it allows people not to feel so isolated for the first time you know you are sitting with the parent that is exactly what you’re going through people ask us how we get how we do it and there’s we’ve got our faith we’ve got our family we got the MPS SA they were really instrumental in advocacy with the FDA and the federal government getting approval for certain drugs getting federal funding for research basic science is critical because if we don’t have new discoveries we have nothing to translate we have nothing new to bring to the clinic and so that too is funded by the national MPs the national MPs Society has raised millions of dollars over the years through walk run programs family events they’ve gotten extremely creative and we’ve been able to take research from the lab and move it into clinical trials but we still need to do more every child deserves to be saved you can do it sitting down Spencer has a very positive outlook on life this despite the challenges in the pain that goes with that I pray almost every day die they’ll find a cure for his disease I really want to get a good GPA in high school so I can get to a good college and have a good future I look forward to when um they maybe find a cure and um but that might not be for maybe many years but um I’ll try not to let that stop me and stop me from achieving my goals rare diseases have this tremendous disadvantage that very few people have them and there’s very little public interest in them and so you’re always fighting an uphill battle and you know it’s not like treating cancer or diabetes where there’s millions and millions of people but with these rare disease we have a chance and do something profound and meaningful to transform lives we could be doing more with the science we already have we won’t stop fundraising until there’s a cure my daughter is going to be faced with these choices she’s going to potentially have a child with MPs and I want her to know that even if she has a child born with this gene that’s okay because we have a cure for it honey and hope you you

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