Steve Kim via Crowdrise
May 25, 2012
BENEFITING: ADVANCEMENT OF RESEARCH FOR MYOPATHIES
EVENT DATE: Jun 03, 2012
Triathlon for HIBM
A few months ago, a friend asked me if I would be interested in doing a triathlon with him. Although I had never done one before, I felt in my heart that I should do it.
Since then, I have been training seriously to prepare for the big day. I quickly realized that this was much harder than I thought it would be.
Training for the triathlon has been one of the biggest challenges of my life. I have never been so physically and mentally stretched before. I’ve had to search deep within myself to find a greater motivation and strength to keep going. During these times, I was reminded of my good friend Kam.
I met Kam over 10 years ago. She is a woman of great strength and has personally been an inspiration to my life. Kam has a rare muscular disease called HIBM, and despite her condition, she is someone who truly lives life to the fullest. I am encouraged and humbled by her and would like to join her in fighting for the cause and cure of HIBM.
Kam is a Korean American, an Industrial Designer and an artist. She was born in Daegu many years ago, but to no home or family. After 4 years of being in an orphanage, an American family finally adopted her. She grew up in Michigan and lived there for 23 years. That is where I met her. She was an Automotive Design student and I would often mentor her and give her insight into the design world. At the same time, I became aware that she had a mysterious condition, a condition that was slowly disabling her body. It was strange since for most of her life she was physically active, playing soccer and other sports for many years. But, suddenly, at the age of 20, she began experiencing symptoms and six years later she would learn that her mysterious condition was called; HIBM (Hereditary Inclusion Body Myopathy).
I now live in Korea and she lives in California, but we are still friends and I'd like to help her.
HIBM is a rare genetic disorder that causes progressive muscle wasting and weakness. It can lead some patients to a quadriplegic state. The good news is, there is a real treatment on the horizon and can absolutely happen within Kam’s lifetime. The lack of awareness and funding is what slows down treatment development for HIBM.
Kam is a strong patient advocate and spreads awareness about her rare condition. She volunteers with the organization that has developed this potential HIBM treatment (ARM & HRG (HIBM Research Group) in Encino, Ca). In addition she personally shares what it is like to live with such a rare and progressive condition through blogging and art.
So far she is the only Korean patient she knows about, but has traveled and met many HIBM patients who are struggling. Because HIBM is so rare, and very difficult to diagnose, she hopes that spreading awareness in the Korean community would one day make a difference. Because HIBM is genetic, there must be another one like her somewhere in Korea and that person may not even know they have HIBM.
You can visit Kam’s blog and learn more about her at: www.greengreengrass.typepad.com
ARM organization: www.hibm.org
Honestly, I am very nervous about preparing for this event, both physically and emotionally. I have one month left to prepare and I feel like my swimming, cycling, and running still needs lots of work. But, deciding to do the triathlon for a bigger cause has given me greater strength and focus to finish the training and run the good race.
The triathlon will be on June 3, 2012 in a city near Seoul, Korea. I humbly ask all of you to please join me in this journey and support me by sharing and donating to this cause. It is no longer about finding the cure; it's about funding it.
All donations are tax deductible. International donations are accepted via crowdrise. ARM is a nonprofit 501(c)(3)
Triathlon of Korea (KTF) / Third Hongseong Triathlon (www.triathlon.or.kr)http://www.triathlon.or.kr/en/en_info_meeting/daily_view.asp?index=357
Field of triathlon: olympic distance (1.5km swim 40km bike 10km run)
Triathlon of Korea (KTF)
참여결정을내린후레이스를준비하기위해강도높은훈련을했습니다. 훈련은상상했던것보다훨씬혹독했고, 갈길이멀다는걸바로깨달았습니다. 3종경기대비훈련은, ‘내생에가장힘든도전중하나다’라고말해도지나치지않았습니다. 제평생육체적, 그리고정신적으로이렇게힘든한계에도달한적은없었던것같습니다. 훈련을이겨내고자내안깊은곳에서더큰원동력과힘을찾으려노력했습니다. 그와중에전종종친한친구캠을떠올렸습니다.
캠을 처음 만난 지는 벌써10년이 넘었습니다. 캠은 엄청난 내면의 힘을 지닌, 개인적으로 제 삶에 영감을 불어 넣어주는 친구입니다. 캠은 희귀 근육 퇴질환인HIBM을 앓고 있습니다. 비록 투병 중이지만 캠은 삶을 최대한 즐기려고 노력합니다. 그녀의 노력을 볼 때면 저도 힘이 나고 겸허해 집니다. 또, 저도 그녀를 도와서HIBM질병의 근원과 치료법을 찾는데 기여 하고 싶습니다.
본래한국인인캠은어렸을때미국으로입양된후미국에서자랐으며, 현재전문산업디자이너이자아티스트로활동하고있습니다. 캠은오래전에대구에서태어났지만가족이나집은없었습니다. 미국으로입양되기전까지4년이라는긴시간을고아원에서보냈습니다. 미국양부모님께서캠을미시간으로데려가셨고, 캠은그곳에서23년을살았습니다. 제가캠을처음만난곳도미시간이였습니다. 그때당시캠은자동차디자인을공부하고있었고, 저는종종그녀의멘토로서그녀가디자인세계의통찰력을키우는데도움을주기도했습니다. 친해지면서전그녀가서서히몸이마비되는미지의 질병을앓고있다는사실을알게되었습니다.
원래캠은축구등여러가지운동을즐기던친구여서, 그런병에걸렸다는게너무나이상했습니다. 하지만만20살을기점으로그녀는미묘한변화를겪기시작했습니다. 캠은6년간여러의사들의진단을받은후마침내그뭔지모를병이바로 HIBM
저는현재한국에서거주중이며, 캠은캘리포니아에거주중입니다. 비록태평양이우리사이를나누고있어도여전히저의친구인캠을도와주고싶습니다. HIBM은희귀유전질환이며서서히근육의기능과힘을앗아가는질환입니다. 경우에따라어떤환자들은사지가마비되기도합니다. 하지만좋은뉴스도있습니다. 벌써의사들은치료법을거의찾아내캠의생애가저물기전에치료법을내놓을확률도굉장히높습니다. 현재치료개발의가장큰걸림돌은무관심과저조한투자입니다.
캠은이희귀질환을세계에알리려많은노력을하고있습니다. 현재캠은가장가능성높은치료법을개발한캘리포니아주엔시노시에위치한ARM과HRG (HIBM Research Center, 연구그룹)에서자원봉사를하고있습니다. 또캠은HIBM 투병중인환자로써삶의과정을블로그에올리고그림을통해다른환자들과소통하며서로의아픔을나누고있습니다.
현재HIBM을앓고있다고밝혀진한국계환자는캠이유일하지만, 캠은많은국가와지역을방문하며여러HIBM환자들을만났습니다. HIBM은그병이매우희귀한만큼진단도어렵다고합니다. 캠은한국에HIBM라는병의존재를알림으로써한국에서어떤병인지도모르는채HIBM과투병하고있을사람들에게도움을주고자합니다. HIBM은유전성질환이때문에캠말고도또다른한국인이HIBM걸리고도그사실을모른채살고있을가능성이큽니다.
캠의삶과질환에관해서알고싶으시면www.greengreengrass.typepad.com블로그를참고하시고, ARM 그룹의홈페이지:www.hibm.org를방문해보세요.
전 이번 대회를 준비하면서 육체적, 그리고 정신적인 불안감을 느끼고 있습니다. 이제 한 달도 채 남지 않았는데, 수영, 사이클링, 그리고 러닝 셋 다 모두 아직 충분히 훈련을 마쳤다고는 생각되지 않습니다. 하지만 더 큰 목표를 지닌 채 참가하는 이번 철인3종 경기는 제게 완주에 필요한 힘과 집중력을 주는 것 같습니다. 전 이를 토대로 훈련을 잘 끝내고, 레이스를 멋지게 완주할 수 있을 것이라 믿습니다.
이번 레이스는 서울인근에서6월3일에 열립니다. 부디 레이스에 동참하셔서 더 큰 목표를 위해 저와 함께하고 도와주시기를 조심스럽게 부탁 드리는 바입니다. 우리 앞길을 막고 있는 것은 치료법을 찾았느냐의 여부가 아니라, 이미 찾은 방법을 현실화 시키기는 데 필요한 자금이 부족하다는 것입니다.
여러분의 소중한 기부는 면세 가능합니다. 해외(미국 제외)로부터의 기부는crowdwise라는 사이트를 통해서 받고 있습니다. ARM은 자원봉사 단체입니다.
*이번 철인3종 경기 거리는 올림픽과 동일합니다. (1.5Km 수영, 40Km 사이클링, 10Km 러닝)
Hereditary Inclusion Body Myopathy
HIBM (Hereditary Inclusion Body Myopathies) are a group of rare/orphan genetic disorders. HIBM causes progressive muscle wasting and weakness that begins in young adulthood and can lead to very severe disability within 10 - 20 years. Besides clusters of patients amongst people of Middle Eastern, Jewish, or Japanese heritage, patients can be found in every corner of the world. HIBM has been identified in people Asian (Japanese, Korean, Chinese and others), European, South American, African, and Middle Eastern (Muslim, Palestinian, Jewish, Iranian) origins.
HIBM is also known as Distal Myopathy with Rimmed Vacuoles (DMRV), Quadriceps Sparing Myopathy (QSM), or GNE related muscle disease. It causes progressive muscle weakness and wasting. Muscle wasting usually starts around the age of 20 - 30 years, although we have seen young onset at 17 and old onset at 52. As such, it affects the most productive times of a person's life. It can lead to severe disability within 10 - 15 years, confining many patients to a wheelchair. The weakness and severity can vary from person to person. In some, weakness in the legs is noticed first. In few others, the hands are weakened more rapidly than the legs. Weakness is progressive, which means the muscle become weaker over time. HIBM does not seem to affect the brain, internal organs or sensation. The quadriceps are relatively spared, and remain strong until the late stages of disease, which is the reason HIBM is often referred to as Quadriceps Sparing Myopathy (QSM). It is caused by genetic variations in a gene known as GNE.
Hereditary Inclusion Body Myopathy 유전성근질환
유전성근질환HIBM은희귀질환병중하나입니다. HIBM은청년후기부터점진적으로근육이약해지는증상을동반하여10~20년에거처중도장애로약화진행될수있습니다. 주로중동지역거주자, 유대인, 또는일본인들사이에서발병된다고알려져있지만, 이유전성근질환의발병가능성은누구에게나있습니다. 아시아지역일본, 한국, 중국및여러국가에서발견되었으며, 유럽, 남미, 아프리카, 그리고중동(무슬림, 팔라스타인인, 유대인, 그리고이란인) 지역에도이질병이발병사례가있습니다.
HIBM은테두리두르기공포형원위형마이오파티(DMRV), ‘사두근보존근질환’ Quadriceps Sparing Myopathy (QSM)라고알려져있기도합니다. 근질환은점진적으로근육을약화시키는데, 주로20~30세사이에발병합니다. 가장어린환자는17살부터, 가장나이가많은환자는52세때발병했다고합니다. 인생에서가장생산적인시기에발병하는병이라고볼수있습니다. 발병후많은환자들은10~15년안에중도장애로악화되며, 휠체어에의존해야만하는경우가많습니다. 물론약화의강도와속도는환자마다다릅니다. 어떤환자는다리에서부터약화가시작되며, 또다른환자는팔의약화가더빠르게진행된다고합니다. 약화는지속적이며, 이는시간이갈수록근육약화가진행되는것을의미합니다. HIBM은뇌, 내부기관과감각에는영향을미치지않습니다. 특히사두근은질환말기까지는비교적건강한상태를유지합니다. 이런이유로Quadriceps Sparing Myopathy (QSM) (사두근보존근질환) 이라고도불립니다. HIBM 의원인은9번염색체의GNE 유전자의돌연변이유전체로밝혀졌습니다
Mission & Vision of ARM
ARM's purpose and goal is to accelerate biomedical research aimed at developing treatments for HIBM (recessive HIBM - Hereditary Inclusion Body Myopathy, Mendelian Inheritance in Man Catalogue # 600737), and skeletal muscle regeneration. ARM's mission is to accomplish this goal in the most efficient manner possible, with special emphasis on considerations of results/duration/cost value of proposed research.
ARM's vision is to have an effective preventive treatment for HIBM available for all current and future patients in the next few years, to offer regenerative treatments for patients who have lost muscle tissue, and to empower patients, and community, worldwide with knowledge and support.
ARM의 목적과 목표는HIBM( 퇴행성 유전근질환은Man Catalogue,멘델성 유전병 600737) 치료와 골격근 재생과 관련된 생물의학연구를 가속화 시키기 위해서 만들어졌습니다. ARM은 우리의 목표를 가장 효율적으로 달성하기 위해서 연구제안을 결과/기간/비용가의 타당성 차원을 면밀히 검토한 후 추진합니다.
ARM은앞으로몇년안에현존하는, 그리고아직발견되지않은HIBM의효율적인예방치료방법의발견을목표로삼았습니다. 근육퇴화를겪고있는환자에게근육재생치료진행, 그리고전세계의HIBM환자와공동체에게지식과지원하여이희귀병을이길수있는힘이되려고합니다