How to cure respiratory infection that often recurs

it's february 29th. happy leap day to you.i'm julie moran. and i'm olga villaverde. do you actually knowanyone who was born in a leap year? no.i know. neither do i. did you know that 0.7% of the world's populationwas born on a leap day? well, i didn't know the exact figure, buti do know leap days only come once every four years. so, to have a leap year birthday isobviously very rare indeed. so true. and it's so appropriate that on thisday rare leap day, it's also world rare disease day.so appropriate here. as you know, we here at the balancing act are dedicated to rarediseases, and that's why we have our ongoing

rare disease series called behind the mystery.it's our way of keeping you informed and bringing you some of the most incredible stories ofcourage and medical advances. we're wearing and holding our denim ribbons in support,right here. yes. and matter of fact, coming up later thismonth you're going to meet a beautiful little girl who became that proverbial one in a millionwhen she was diagnosed with one of the rarest diseases in existence.and by one in a million, you literarily mean it. it only occurs one in every million births,right? exactly. these diseases are known to so fewpeople worldwide. so today we are thrilled to raise awareness for all rare disease patientseverywhere.

stay with us. the balancing act starts rightnow. (music).up first, we're bringing back one of the most touching stories. imagine you watch your ownmother pass away tragically of a rare genetic disease before she even reaches the age 50.that is so sad. but imagine having to then watch and wait looking for the same symptomsof the same deadly disease in yourself. it's just one of the devastating circumstancesfaced by today's rare disease patients including our first guest.he's young. he's talented. and as you're about to see, he's passionate about using his ownfamily's rare disease tragedy for a greater good. here's balancing act correspondent,chris cox.

dylan duncan is a songwriter and musician.he's also one of 50,000 patients impacted by transthyretin-mediated amyloidosis, orattr. i went in for my genetic testing at the ageof 26. so, i found out the had the gene for the disease, and a year later i got a fatpad biopsy, which was then used to determine whether or not symptoms had started.dylan duncan has been john berk's patient for nearly eight years. they know each otherwell. we met first in 2007, and at the time he wasi think 27-years-old. he had watched his mother become ill and undergo a liver transplant,and subsequently die. attr is a hereditary disease that culminatesin injury to nerves in particular and secondarily

to heart.dylan was 27 when he was diagnosed. but for him, it came as no surprise.how old was your mother when she was actually diagnosed?i want to say 37, 38. i know she was sick for about five years, and she passed awaywhen she was 45. the abnormal gene is passed from a parentto the patient, and it's approximately a 50/50 proposition every time an affected parenthas the child. people will typically develop some burning,tingling, or numbness initially of their toes, and there is evolution up the leg until theyreach approximately knee involvement. at which point, their fingertips and hands become involved.there can also be remarkable disfunction of

the gi tract so that diarrhea or profoundconstipation can be problematic. first symptoms that i was experiencing theamyloidosis were the carpel tunnel, which is what they say one in four patients experience.but it was very strange. like i would feel complete numbness in my entire arm, and i'dhave to hang my arm over the bed just to get the feeling back. and that happened around26, 27. that's why i went in to get tested. things were starting to develop when my gastrointestinalissues and numbness more in my calves i was experiencing, and i've heard that a lot ofthe numbness will happen kind of starting in the feet and going upwards.while currently there are no drugs specifically approved for attr in the united states, thereare limited treatment options.

there are clinical trials ongoing right nowthat are focused on not simply stabilizing the abnormal protein but eliminating it completely.new treatment options currently under development may give attr patients and their familieshope for the future. we imagine a world where patients with attrare living full, healthy, high-quality lives. but it's important for patients to get involved.diagnosis is critical, so we ask patients to get heavily involved in their diagnosisand bring others if they, in fact, do get diagnosed with ttr mediated amyloidosis inbecause it is a dominant autosomal inherited disease.dylan duncan continues to perform his favorite hobbies such as painting. he also enjoys hangingwith his group of supporter friends, and of

course, he continues to play his guitar.there's one particular song that you wrote called hello amy. tell us about that song.amy is short for amyloidosis, and so what i did was i actually wanted to just personifyit and make it almost sound like it's a girl that you want out of your life, like an ex-girlfriendor something like that. you know? (singing)."hello amy. i didn't expect you here this soon. you're not due for quite a while."there are moments when i get really really scared, especially since symptoms are startingto kind of show themselves. it's hard not to think negatively sometimes just seeingwhat happened with our mother. but absolutely, there are so many new advances that weren'thappening around the time that my mom was,

or if they were, at least they weren't beingso widely explored. it's very encouraging and very hopeful.for more information on a free third-party screening program, go to ttrscreen.com orcall toll free 1-855-338-3721. (music).(music). like many young boys his age, 7-year-old jacksondunn-kraus has many interests and he loves hanging out with his twin sister. his parentssay he is a funny kid and likes to laugh. this, despite his medical condition, jacksonhas a rare, serious, and progressive genetic disorder that affects mostly boys. jacksonhas hunter syndrome, the topic of today's discussion on this rare disease day. our gueststhis morning, dr. barbara burton, a professor

of pediatrics at northwestern university,and dr. david molter, a professor of otolaryngology washington university school of medicine atst. louis. and we're going to meet jackson and his mother a little bit later in the show.good morning to both of you. good morning.thank you so much for being here. dr. burton, let me start with you and let's talk abouthunter syndrome. what exactly is it? hunter syndrome, also referred to as mucopolysaccharidosisor mps type 2 is a rare genetic disorder that affects males almost exclusively. it is estimatedto occur in about 1 in every 162,000 births. it's a serious and progressive condition forwhich we currently have no cure. and let's talk about, doctor, the physicalsymptoms that maybe a parent notices. when

do they become noticeable? what happens?well, typically a baby with hunter syndrome appears healthy at birth, but then at somepoint in the early years of life symptoms begin to develop in multiple organ systems.there can be recurrent respiratory and ear infections. we see changes in the facial featurescalled coarsening resulting in thick lips, broad nose, large tongue. we also see an enlargedabdomen from enlargement of the liver and spleen. there can be chronic or recurrentdiarrhea. hernias are quite common, and we see progressive symptoms in the skeleton andin the joints, particularly progressive stiffness of the joints.dr. molter, i want to bring you into the conversation, and i do want our viewers to know that youare a otolaryngologist, which is also known

as an ent specialist: ears, nose, throat.do you see any common threads between let's say a baby that's born healthy and then obviouslythen symptoms occur? common threads between both?certainly. well as an ear nose and throat specialist, we see things ear, nose, throat,and dental. and so often this begins with a course of recurring ear infections whichmay lead to placement of tubes, sinus infections, upper respiratory infections, and changesin the facial features. we may see coarsening of the tongue, enlargements of the tonsilsor adenoids, and may see some changes in the teeth which are often described as being peg-like.well, these symptoms by themselves are certainly not a red flag and are common experienceswith childhood. it's when they're associated

with other findings such as a hernia or thecoarsening of the facial features that should begin to raise a red flag for hunter's.dr. burton? exactly. i think when you see multiple medicalissues in the same child, that's when you want to see if there's a common thread ordiagnosis that would explain all of those. and so a pediatrician or an ent doctor mightget suspicious, and then a specialist like myself, a geneticists, can recognize the combination,order the appropriate diagnostic tests, and make a diagnosis.and dr. molter, for parents out there who may be experiencing this, they don't knowwhat's going on, they're going from doctor to doctor. it can be extremely frustrating.it is their child. what would you say in terms

of maybe educating them and helping them sothey can find the answers they need? well, it certainly is challenging. it's whenyou find that you're reaching challenges outside of the norm that referral to a geneticistwould be appropriate. alright, dr. molter, i know you have to getgoing. dr. burton, you're going to stick around. thank you so much, dr.molter, for being herethis morning. because when we come back, we're going to meet jackson and his mother, a veryspecial boy. and we're going to share their story with you. so stay with us.(music). (music).welcome back, everyone. we've been discussing a serious progressive genetic disorder calledhunter syndrome. and joining us now are carrie

dunn and her 7-year-old son, jackson dunn-krauswho has this disorder. good morning to both of you.good morning. thank you for having us. oh, thanks for being here. doctor, beforei speak to this lovely young man, let's talk about hunter syndrome. now, we talked abouttwo forms: mild and severe. which one does jackson have?jackson has a mild or perhaps intermediate form of the disorder where there's littleor no involvement of the brain. many patients with hunter syndrome have the severe formwhere the brain is more extensively involved and we see more severe developmental delayor loss of developmental skills. now jackson, i hear you're seven. when areyou going to be 8-years-old?

on april.what day in april? umm…april 28th? oh!april 28th. oh, special day. and what grade are you in?2nd grade. and somebody told me this morning that youlove school? what's your favorite subject? science and recess.science and recess. perfect. we study for a little while and then we go play. i lovethat answer. definitely.carrie, let's talk about jackson. tell me what happened. obviously from what i've beenlearning here, he was born and everything

seemed healthy at the beginning.that's a great question. when jackson was first coming to us, we realized that we werehaving twins. so i was followed by a high-risk pregnancy physician. when he was born, hespent some time right away in the nicu because of a collapsed lung. so, he was having somedistress, pulmonary issues, and he spent some there and then they handed us our healthybaby and said, "go enjoy the twins." and sydney was growing a little bit faster and gainingher milestones a little bit earlier. jackson was showing some signs early on that distressedus a little bit in that he had a large distended belly. his skin was extremely taut. he wascrawling, what we'd like to call, commando crawl where his sister started walking.and still you didn't know?

we didn't know. but we did seek the adviceof numerous physicians and we started therapies early on. jackson started with occupationaltherapy, developmental therapy, speech therapy, sensory, feeding therapy, a little bit ofeverything, and this was all before he was three.and when was he finally diagnosed? right after his third birthday. we had gottena recommendation to see a geneticist and as we went into the geneticist's appointment,she discovered a hernia right away. so, the red flag was he has a hernia, the large distendedbelly. his face was a little bit larger than most boys his age. the geneticist recommendedthat we see a metabolism specialist right away, and we were able to go into that appointmentand the doctor looked at us and said, "i know

what your son has. he has something calledhunter syndrome, otherwise knowns as mps ii. and your reaction at that moment?i was happy that i had a diagnosis. i was thinking that.but i was devastated to know that my son would suffer for a while with many different ailments,but as you can see, he's doing great. he's a typical 7-year-old and he's having a lotof fun. but the road is a long road. and doctor, let's talk about that road. threeyears to get a diagnosis, three years of a mother knowing something's not right here.she gets the diagnosis. is jackson's history typical for patients with hunter syndrome?well, unfortunately it is typical that a patient sees multiple physicians, many doctor visitsfor a lot of different complaints until they

finally get that diagnosis. the specific combinationof findings varies quite a bit from child to child. but certainly that diagnostic odysseyof searching for a diagnosis is a very very common phenomenon.and carrie, obviously you're here today because we need to create that awareness and educateothers about this hunter syndrome. support groups? did they help you also once you gotthat diagnosis? most definitely. the support of your familyand friends is very important, but then we reached out right after that appointment andwe found a connection through the national mps society. they were a great resource forfamilies just to learn about the disease, but also to help you in this journey thatyou're taking. the website for that is www.mpssociety.org,

and just a tremendous amount of help for usa family. and doctor, what advice would you give toparents out there who may suspect that maybe their child has hunter syndrome?well, if there are multiple medical issues like we've been discussing, i would recommendthey talk to their pediatrician and seek consultation from a specialist like a geneticist. earlydiagnosis is so terribly important to ensure that a child gets the appropriate medicalcare. and do you have a websites for our viewersto learn more about it? medical information is available at a websitecalled hunterpatients.com. hunterpatients.com?yes.

carrie, for anyone out there who may be experiencingthis or may not know, what would you say? i would say please just follow your gut. gowith your instincts. you know, as a parent, that if something is just not right, searchuntil you find the answer. thank you so much for your time and for theeducation you've given us this morning. carrie, thank you so much for bringing your son andsharing his story. jackson, thank you so much. do you get along with your sister? that'sgood, too. thank you. god bless you. thank you, carrie. bye jackson. thank you.and for more information on managing hunter syndrome, please visit hunterpatients.comor our website, thebalancingact.com. (music).

(music).and now it's time to celebrate, and no one deserves a celebration more than the raredisease patients scattered around the world but bound together by their strength.there are about 7,000 rare genetic diseases that affect more than 30 million americansand millions more worldwide. the balancing act's behind the mystery series has highlightedmany of them. time is against them. it often takes over 7 years to reach a proper diagnosis,and an astounding 95% of rare diseases have no fda approved treatment. the global genessummit is out to change all of that through the global genes initiative. the 4th annualglobal genes rare patient advocacy summit and gala took place in beautiful huntingtonbeach, california. and this year hollywood

took note. it's the 2015 tribute to championsof hope. celebrity presenters included bryce dallashoward, jason ritter, and lindsey shaw. i am so happy to be here. rare disease awarenessis what's up. it's going to be a great night for learningand a great night for communities coming together and supporting each other.rare disease patient advocate and radio host, scott "froggy" langley played master of ceremoniesfor the evenings festivities, and american idol season 8 winner and platinum recordingartist, kris allen took the stage with 12-year-old global patient ambassador honorary, ben lou,for a very special performance. in all, more than 800 patents, philanthropists, advocacyleaders, and celebrities came together to

raise over $1.2 million dollars for rare diseaseresearch, education, and patient support. what global genes is really working to accomplishis to bring this community together to create a support network that expands beyond thedisease, and it's an honor to be working with all of those affected by rare disease thatare just incredibly courageous. (cheers and applause).to get involved, donate, or join the rare disease community, simply logon to globalgenes.orgfor more information. (music).we want to leave you with a few great resources for rare disease awareness and advocacy today.and we hope you've been inspired to support these brave patients and caregivers in theirfight to survive.

and don't forget to logon to thebalancingact.comfor all these great stories. you can also always follow us on facebookand twitter. remember, find your balance. so long everybody.(music). wardrobe provided by stage stores.