Our Boy Christopher - Living with Duchenne Muscular Dystrophy

my name is Christopher cat and I am eight years old Christopher as a baby he was a very good baby he was just always so engaged and his eye contact he was always I - I with you and it was just the most amazing thing because he would just lock eyes with you and your whole heart would melt and you know you couldn't do anything but smile it was very exciting you know having first child little boy it was definitely the best one of my the best moments of my life he loves all his animals as you can see we have many of them they take up a lot of his time he really enjoys taking care of them and loving them and being able to tell people he has all those animals hoping my dog hope makes me feel happy he enjoys being with his friends on weekends you know it's so important for him that he loves to be playing with his friends and horseback riding is another one of his things that he loves to go and do he rides a horse named Vinnie he could spend hours just being in his room at his Lego table playing and building and he's got a great imagination oh and he loves to bake and cook just about anything he'll help me cook and bake all the time his other favorite thing to do is be with his brother him and Dominic have a very special relationship and they're just so silly and the best of friends um Christopher idolizes Dominic and Dominic idolizes his big brother and he takes such good care of him it's amazing to watch them develop the relationship that they've developed it's a very special one my parish it next is Ghent must golden dystrophy at 13 months of age Christopher was diagnosed with Duchenne's muscular dystrophy um I've often read you know from parents of whose sons were diagnosed that you know always like getting a death sentence and it is you know it's progressive and it's terminal there's nothing that at this point that can treat or cure it you know as a parent you're just excited to see a move crawl walk run um you are planning in your head to go outside throw a football around play soccer do all these sports that um he can't do now but you're still you know I was planning well I was at work one day and the doctor had called us all called me and it was September 23rd at 150 in the afternoon I pick up the phone and the doctors like I miss Callahan you know it's dr. Spiro and and I remember hearing his words and the next thing I knew I was on the floor and it starx and um it was the worst day of my entire life getting that diagnosis you see all these other kids and there's four their fathers Chris had a really hard time accepting the diagnosis or even asking what it was in his mind Christopher was at some point just going to be in a wheelchair and that was going to be the extent of it it was almost probably almost a year late of that I had to you know print up a synopsis of what do Shen's was that Chris really understood you know what Christopher's life was going to be like and what our life was going to be like and even then it still took him a long time to digest it and to understand that you know at some point we were going to lose our boy you know when you get a diagnosis of cancer or juvenile diabetes not that by any means are they any less horrible or terrible or traumatic but you know that there's something out there there's some medication there you know chemo there's insulin that gives your child a chance there is no chance with Duchenne's he's slowly dying and and there's nothing nothing that you can do I just it's just it is it's a death sentence there's no other way to put it he's probably the bravest person I know yeah Duchenne muscular dystrophy is the terminal disease the progression is just relentless manifesting with signs of motor disabilities so you would have a little three-year-old four year old five year old not keeping up with his peers unable to run on the soccer field or falling and presenting with just difficulties in jumping running things that you would expect a regular five-year-old to do that progression is just simply obvious after each seven and that's relentless to the point of loss of independent walking by each an average age of Tarun and that would be a boy who at the prime of his childhood be confined to a wheelchair and that is then followed with progressive weakness of the upper body with loss of upper extremity function inability to to raise the arms to change for dressing the inability to feed himself in the early teen years and at the same time with the upper body breathing muscles the respiratory muscles we would be heading into a stage of Pommery dysfunction breathing difficulties pneumonias and dependence on ventilators in the ten years it just keeps going on with involvement of the cardiac muscles to terminal cardiac failure in the early 20s not only is it affecting main motor systems boom brain function and cardiac function it also actually affects the GI system you would have a young man in the early 20s that would have difficulty feeding that would have difficulty with his bowel movements leading to intestinal obstruction and and complications that one would not think it's related to the chance so basically it does affect multiple organ systems and the quality of life as one progresses with each year just diminishes it is a devastating degenerative and terminal disease that calling the words of some of the families is like a death sentence that we give I serve as the University Dean of Student Affairs for City University in New York and I have limb girdle muscular dystrophy which is one of the nine forms of the muscular dystrophies when I was first diagnosed at age nine in 1976 I was diagnosed with Duchenne muscular dystrophy and there was very little known about Duchenne at the time based on my slower rate of progression my diagnosis was changed to Becker muscular dystrophy and ultimately through refined genetic testing within the last year I recently had my diagnosis changed to limb girdle muscular dystrophy which is a progressive form of muscular dystrophy not not quite as progressive as Duchene but which affects the skeletal muscles and the pelvic girdle I've been affiliated with MDA for more than 35 years I am proud to serve as a member of the association's board of directors and I'm able to represent the lived experience of living with a neuromuscular disability in the fall of 1986 dr. lute Kunkel and his team at Harvard University identified the gene for Duchenne muscular dystrophy and shortly thereafter identified the damaged and/or missing protein dystrophin for the absence of which causes Duchenne muscular dystrophy and that changed our world that changed the world for people who are hoping for progress in the health and wellness of family members who are affected by Duchene up until that time there was no definitive knowledge of what caused Duchenne muscular dystrophy 30 years ago my two boys were diagnosed with Duchenne was a day in June at noon so I recall that and probably will until I die the doctor said they have to Shen muscular dystrophy and this is the prognosis they will walk until they're about nine years old they will lose their ability to walk then they will die at in their teens and they died at 15 and 17 so to shove muscular dystrophy is a disease that affects your entire body it affects it's the loss of the skeletal muscle protein it's true and that proteins called dystrophin but dystrophic is present in every single tissue of the body and if you think about distro Fionn it could be thought about as a shock absorber so running or attempting to run or moving makes this shot comes uber that's absent makes muscle really make it hard to run and so as this child is running around because there's no shock absorber muscle tends to degenerate so every day of their lives muscle cells die so when that critical mass of muscle cells are going lose function so that means there's a loss of ambulation in their early teens then our muscles are weak as well so often by the late teens they can't move their arms and then they die in their 20s in this disease and especially in my son's lives there wasn't anything there weren't any treatments there was very little money invest this disease and there was very there were a lot of things that weren't known how do we care for this disease what do we do to help these boys is there is there something we could do to give them more time to walk more time to breathe their hearts more time to beat so I in 1994 had met a group of parents and we started an organization that would be focused 100% under chef muscular dystrophy and the organization is called a parent project muscular dystrophy or ppfd I don't want to hear the words out of his mouth you never let me ma or I wasn't able to or how come because I think that would break my heart more than than him being in a wheelchair he wants to place what he wants to be involved I want him to be a normal kid and you know what if he physically can't do something then we find a way that he can do it you know kind of like the sled hockey so Christopher started playing hockey he liked it initially like we'll just got on the ice and absolutely loved it game elbow man it's not that hard as with Easter day oh yeah we'll see Wow oh don't be daddy Christina tour coming exposed to it every week it's an early on setting what it's which is tremendous casino again so prolly his whole personality has to build because of it he's more outgoing as soon as you bring up sled hockey he like tough so excited he's brought you know his equipment to like family functions just so he can show everybody what he wears and how he wears and what he does so the organization is tremendous it's just absolutely amazing it is the only sled hockey team that is on Long Island that incorporates both people with physical and cognitive system they all play together they're all in sleds Christopher is the youngest on the team he's eight and the oldest is at least sixty on the team and they all play together it's a great team is it really to come under under their wing they teach him how to play know as any parent knows having children is expensive you know and you always want to be financially set or you hope to be and you know to be able to provide your children with what they need you sheds expensive and painful and frustrating and such an incredible financial burden for the families that many of them do not survive financially having a child with special needs adds to those financial needs Christopher goes to Cincinnati Children's Hospital every six months which obviously all the travel expenses are not covered hotel and a fare and rental cars and food the steroids that he's on are not approved FDA approved in the United States so I have to call a pharmaceutical company in Spain who then ships them to me every month and obviously because they're not FDA approved means that they're not covered by insurance so some of the supplements that he's on for his heart and in his muscle breakdown and just to alleviate cramps are um you know all out-of-pocket anything that's associated with special needs or rehab is usually three times the price it definitely puts a burden on the family wheelchairs you kind of say to yourself oh I bet there are a couple thousand dollars forty thirty five to forty thousand dollars these chairs so the chairs are forty thousand dollars the house accommodation how are you going to get from A to B with this chair you're going to need a van those vans with the lifts are you know fortunes of money $78,000 then you're going to need caregivers you're going to need some help as they grow into men you'll likely spend around a million dollars or two million dollars on this disease by the time you incorporate all of the needs of this child on top of all the medications and durable medical needs and and equipment you have things like making your house accessible we totally remodeled our house about a year ago where we demolished the house down to a wall and a half of the original house because we had step it three steps in the original house and he was not able to manage those steps anymore I think the most rewarding part was when they came and they framed out the house and we you know it was just the frame of a house with a foundation you know our subfloor I should say and a top over it and Christopher came home from school and he walked in and he just turned around and said mommy there's no more steps and he just got this big smile on his face you don't have to carry me up and down the steps anymore I mean I can do it all by myself and you know you know when you start the project what you're doing it for and why you're doing it it's just that moment that you know you you've done what you have to do for your child to make it the best that it possibly can be financial burdens wha financial needs I should say are a lot but you know you do what you have to do to make it through we redid this house for Christopher mainly to make everything accessible we brought this big ramp nice if it was a nice gradual slope up so it's not hard on him so we made the house pretty much all accessible all accessible fake open layout so he can get around without tripping on this scooter or his wheelchair and we got rid of the steps made everything one level the kids bedrooms are over here and eventually that's going to be our handicap accessible bathroom but we're still working on that work in progress so for seven and a half months we lived in a trailer back there as we were building the house okay tight some days but made it through so there's just like a big camping trip just have a nap once so one of the things that we had to do to make the house accessible for Christopher we put in their stay lift made a playroom area for them for Christopher and Dominic and basement and I installed it here at the house and now it's you know he loves it because he's able to go up and down the from the basement to the first floor without any problems without any assistance from us my dad built like either for me so I don't have to walk far and then so I don't have to walk far we looked for something online or we look for a scooter or a pediatric scooter and they don't make them they don't make anything for kids ages four to twelve so I came up with an idea to modify a scooter that I bought and I patented it and I own the patent on this one he picked out his decals that he wanted to put blue flames it seems to do everything that you know needs us to do so right now it's great one dress all right as I got to know Chris I got to realize he's just like any other kid good job good job excellent he is able to do pretty much whatever all the other children are able to do we just have to piece him so children with your shen often have processing problems so they can't process rapidly that can be overcome but it takes really detailed work and work in school to really understand that they can't process as rapidly as their peers so you have to spend some time with them and teach them how to increasingly process different things in school okay if you have learned so much from Chris himself he's taught us to enjoy what we're doing and enjoy life he often will cut up with the other kids in the classroom and laugh and joke and nobody sees him any differently you know they they love Chris and they want to help Chris and I think it's the culture in the school and the culture in this classroom and it's what's we've established here at Sycamore and he is just like any other boy oh yes public schools are obligated to meet the needs of their students this is not only true for academic needs but also their physical needs Christopher has a unique set of accommodations that we we must meet but it's also our pleasure to do it we want his school experience to be everything that he deserves we have a special chair for him that he can eat at the cafeteria at the tables with his friends there's an evacuation chair to make sure that he's safe and he can get out of the building in case of an emergency of course he has a scooter and he loves getting the attention from the other kids when he rides his scooter around our halls this year Christopher moved upstairs and there's no private bathroom upstairs and you needed one so we made sure that one was installed for him finally he does have individual service from a physical therapist right here in school when I think how Christopher most important thing is that he's safe during the day with 2 shens you know that his balance his muscle tone strengths are affected so that means as a physical therapist I need to make sure that when he's in his classroom when he's in the cafeteria when he's in the playground with his friends that he's going to be as safe as he can be so some of the things we work on are his balance reactions and his protective responses I'll get him on the mat and I will give him a little push and make sure that he can figure out how to catch himself and fall so that he doesn't get hurt Julian's another thing I work on with Christopher and physical therapy is energy conservation I want to make sure that throughout the day he's not expending too much energy doing one single activity because he needs to save all of his energy to last throughout the whole day so we work on how to do two things in one trip or how to use his equipment to help him do a task like maybe he's going to take his scooter to the bathroom rather than walking there so he doesn't get tired but we want him to have fun too so make sure that he has enough energy left over to play with his buddies and have fun in gym and go on the playground as he's getting older I look at videotapes of him when he was younger and he was able to run better when he was three then he can to eat and be able to nut will not be able to go up and down stairs really you know but he just he's just miraculous he really is he's he's he's our little miracle and you know they talk about you talk to other parents with boys with Duchenne and they talk about the Duchenne smile and it's so true cuz you know you look at the photo gallery or kids that we meet that have it they all have this smile that is just captivating their personalities and motivation and their life to live and to fight it's just unbelievable it really is and he's one of those kids and he's just got that smile that just takes you in and everybody that meets him even before they even know about his diagnosis they just are captivated by him they really are his friends are just incredible because they they don't understand his diagnosis but they understand Christopher and they just take him under his under their wings and they try everything to make him fit in the love is just overwhelming and it's just amazing I really is it's hard not to meet a kid like Christopher and not be moved and compelled but the reality is that we need to make the business case and the political case in order to make an impact on Duchenne muscular dystrophy research so a para project muscular dystrophy or because that's a mouthful we call ourselves ppmd has been around now 20 years so we invest in research we invest in early targets that means good ideas about how to treat the disease and then we grow those targets and then industry comes along and if they see something that's robust enough that they think could treat the disease that they take on that drug development pathway the pharmaceutical industry is first and foremost in industry and it's a business and while certainly pharmaceutical companies are motivated to do good first and foremost they're motivated to do well for their shareholders and that's their primary obligation very often advocacy involves helping pharmaceutical companies to understand the business case for investing in neuromuscular disease research and particularly Duchenne muscular dystrophy research advocacy is where we go in terms of Washington DC so we go to the House and Senate and we were sufficiently lucky in 2001 to have a bill introduced in the House and Senate that bill was called The Empty Care Act that was passed and signed into law in 2001 it was reauthorized in 2008 and just last year in the fall the amendments were authorised again so what this piece of legislation did which is now a law it brought 500 million dollars investment into muscular dystrophy so that investment galvanized the whole world actually so today with that investment in place over time we have 26 companies looking at how to treat Duchenne muscular dystrophy so we went to the FDA to talk about the unmet need what we wanted to say to them is these are really really important we want you to think not only about the data that you see about this drug because we want safe and effective drugs but about the effect on families we want you to think about doing nothing is doing harm so approvals are really really important so that we can get to combination therapies ultimately rendering them unable to work and forcing them to be dependent upon disability benefits how do you care for them do subtle things make a difference like these boys can't coughs so we use a machine called the Caucasus and that helps them cough we use breathing and ventilation machines when they are teenagers but we also use medicines these kids are on steroids on chronic steroids they're using ace inhibitors for their heart and beta blockers and a player notes or drugs to really stabilize their heart function as we improve their skeletal muscle function and we are certifying centers now so there are now today eight centers that are certified in to chef muscular dystrophy which means to parents they can confidently go to these centers and know that they'll receive the best care possible we educate the whole world about Duchenne muscular dystrophy I guess the thing that hurts me the most and that concerns me the most as a parent is you know the the fun things in life you know that he may not be able to do and um you know we've kind of gotten past you know the sports and we've kind of left over that hurdle but now you know like you could tell he you know you talked about girls or whatever and he gets all red and you know I just I want him to experience you know his first kiss and I want him to be able to go for for his driver's license which he probably will not be able to do going to prom you know having a date for going to prom getting married having kids you know going to college you know these are all for Christopher something that are uncertain because number one you know you don't know how physically if he'll be functioning or number two if he'll even be alive at that point everybody everybody says good refresh dude it'd be cool and these are the things that consume me the most about him even when they are on your last nerve and you are just so exhausted and so tired from being up all night and going to work and it being a horrible day and you come home and you know all of a sudden they come over and they give you a hug or they just sit on your lap or they hold your hand and it's just like everything else just seems to disappear and and it's just you and them and that's all that matters my best memories and happiest times you know I'll when Chris and I and the boys are together we have the best time with each other and seeing Chris interact with his sons and just the love that they all have for each other and the love that I have for them it's just incredible I will never have that feeling with anybody else it just is something that you can't replicate or even explain yes Dominic I've got a few you

Channel: Stuart Pollak

Views: 58,253

Keywords: Duchenne's, Duchenne, Muscular, Dystrophy, Duchenne Muscular Dystrophy, Christopher Callahan, Callahan, Documentary, Jordan, Pollak, PPMD, Parent Project Muscular Dystro, Muscular Dystrophy Association, MDA, Pat Furlong, Dr. Chris Rosa

Id: SeRfWp0eNGM

Length: 35min 56sec (2156 seconds)

Published: Sun Jun 28 2015