HEALTH COACH - Should not live before 10 years, he graduated from college this week

HEALTH COACH -

 Should not live before 10 years, he graduated from college this week  
 This is remarkable because Ryan was not supposed to go to college, not to mention Of the school which he wore the logo on T-shirts and basketball jerseys as a toddler. Because under this hat and this dress, medicines circulate throughout his body to make this moment possible. Because his parents never gave up, even though they heard that there was no chance. 
 
 This is remarkable because Ryan is still alive, despite his birth with a death sentence in his genes. 
 
 His father, Mark Dant, likes to say that Ryan was born with a love for baseball. The night before his birth, his parents went to a Texas Rangers game. 
 
 
 The healthy and healthy young boy was born in 1988,   weighing 8 pounds, 13 ounces. He was perfect, said Mark. At the age of 3, he could throw a base ball so hard that his mother, Jeanne, made a rule "without ball in the house". Every night, Ryan watched the baseball games with his family on television, lining up on the Rangers Nolan Ryan pitcher. He liked the fact that he could see his own name on the back of the baseball player's jersey. 
 
 
 
  
 
 
 
 Before signing up for this event, you will be asked to sign up to the following address: http://www.cnnnext.com/cnnnext/dam/ assets/ 170510113308-f-nolanryan-6-wide-169.jpg The daycare   at the age of 3, Jeanne took Ryan to the pediatrician. What was supposed to be a routine check revealed that Ryan's liver and spleen were too bulky, and the Dants were referred to a geneticist. Mark, who had just made a lieutenant at the police department in Carrollton, Texas, did not believe that anything was wrong with his son. He was not with them to see the geneticist. But two weeks later, the tests confirmed the diagnosis. 
 
 The geneticist said that Ryan had a rare genetic disorder called mucopolysaccharidosis I, or MPS I, with a wide range of symptoms affecting multiple systems in the body. The mutation is formed in a gene that makes an enzyme that helps break down the by-products of chemical reactions in cells. The enzyme can not be produced, resulting in an accumulation of this by-product that can damage cells, tissues and organs. 
 
 
 
  
 
 
 
 He explained why his spleen And his liver were enlarged; Accumulation made them 2½ times larger than normal. 
 
 The geneticist told the Dantes that Ryan would die by the time he was 10 or 12. Over time, they would see him change. He would suffer a lot, could be blind and deaf, suffer from stiffening and curling the muscles in his limbs that would put him in a wheelchair. He would refuse mentally. 
 
 Soon, he would lose the ability to play baseball. 
 
 Mark   Dant pressed the doctor, asking for research or medication. 
 
 "" You must understand that your son has such a rare disease that there are not many scientists working, "the doctor recalls." He told us to bring him back At home and love it, because it would not be long. "
 
 MPS I affects one child out of 100,000   in the world, according to the National Organization For Rare Diseases 
 
 The Dants immediately decided not to tell Ryan, he was too young to understand, they cried in the corridor before taking him home. Normal for them: crying at night, separately, after Ryan went to sleep.When they did not cry, they watched him sleep, waiting for the inevitable.Mark would wake up on the floor next to Ryan's bed all 
 
 "I remember that this year was so painful because we had a little ga Happy and playful lesson that was no different from what it was before entering the Exam Room, but everything we knew of it was going to change, "said Mark . "And there was nothing we could do about it." 
 
 They spent a year of mourning. But the Dants began to wonder if there was something they could do. Certainly, there were other families out there dealing with MPS I. 
 
 "I decided after a year to get up from the ground and do something about it, "Said Mark. 
 
 
 Following a scientist 
 
 
 Mark began attending a conference for the National MPS Society. He was shaken and torn to see children in different states of decline. There were no teenagers. 
 
 After that, he spent his spare time at the library, reading about genetics and small information available on MPS. Mark's research led him to an international symposium in Germany where a scientist presented Enzymatic Replacement Therapy for another rare disease. He asked the scientist if it was possible to develop a similar therapy for MPS I. 
 
 It is possible, it has been said, but it will take a lot of time and money. Both were insufficient. 
 
 Every Mark was to hear that it was possible. He decided to buy time. After returning home, he studied non-profit organizations and started the Ryan Foundation. A bake sale in the family aisle raised $ 342. 
 
 As part of an event of the MPS company, Mark sat down with another scientist who told him about his brilliant alumnus at the University of California at Los Angeles. Emil Kakkis was working on enzymatic replacement therapy for MPS I, but struggled because of lack of funding. After meeting Kakkis, Mark knew that he had found the right person. 
 
 "He is the most dedicated person because he wants to treat untreated," Mark said. 
 
 They started a partnership. Donations to the Ryan Foundation would fund Kakkis' research, hoping to make therapy a real treatment. 
 
 
 
  
 
 "What will it look like when I die?" 
 
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 He was afraid and did not understand Why he had to let his friends live in another place for months. 
 
 "I met Ryan as a very frightened little boy who knew he was going to have to do these weekly infusions," said nurse Sarah McNeil, Assisted during the trial. She worked on a collaborative site at the UT Southwestern Medical Center near the House of Dants. 
 
 After a few weeks of treatment, Ryan could not believe "how small my stomach is". Enzymatic replacement therapy was working, removing years of accumulated by-product in its liver and spleen and returning it to normal size. He continued to respond very well to treatment. 
 
 Some of the children had allergic reactions to infusions, but the trial was expanded over four years. The drug would receive marketing approval from the US Food and Drug Administration in 2003. 
 
 Over time, Ryan began to feel normal. His hands were unfolding, headaches slipped away, and he could start playing baseball again. He had lived to see the age of 12 years, defying the odds. 
 
 "It was a very great feeling to come back as part of the team and be able to practice a sport that I love so much," said Ryan. "I could return to the normality of still being a child, pick up where I stopped, meet my best friend." 
 
 Ryan began talking about his early childhood dreams for the future again. He wanted to get a driver's license, go to the ball, buy a Mustang and go to the University of Louisville. Aldurazyme's four-hour weekly IV diet extended its expected lifetime, making all of these dreams possible. 
 
 The college and high school years were filled with perfectly normal things that Ryan's age should be enjoyed. He was even able to possibly buy his Mustang. 
 
 But another obstacle was just around the turn. 
 
 
 The enemy in 
 
 
 In the last years of high school, the brain lights of Ryan began to extinguish. He would study all weekend for an exam, only for not having a briefing on Monday morning. He may have imposed himself, but the problem only worsened when he moved on to community college. 
 
 His annual summer cognitive tests at the University of Minnesota confirmed: despite his physical improvement, the mental decline they had always feared was occurring and at a rapid pace. 
 
 After years of writing To the director of equipment of the Louisville University Football Team, Ryan had been informed that as soon as he Could take a full charge, there was a scholarship that was waiting for him with the material staff. There, he could pursue his dream of working in sport. 
 
 
 
   
 
  
 
 
 
 He broke and sank into a deep depression. A month later he posted on Facebook, knowing how the journey was never over and full of bumps in the road. 
 
 McNeil, the first clinical trial nurse, had formed a bond with the Dant family. A friend of Ryan's on Facebook, she saw the publication. She feared the worst and reached out to Ryan and her father, asking what had happened. 
 
 When they told him, he broke his heart. "I was just thinking," It happened up here. This may not be, "said McNeil." Ryan is one of four patients from the original ten in the first clinical trial that is still alive. "
 
 McNeil has worked with A neuro-oncologist, Dr. Elizabeth Maher, at the Donnell Brain Institute of the UT Southwestern Medical Center, mainly with patients with brain tumors. "She told Maher about the story 
 
 McNeil raised the question: what could be used to use the test protocol of the R & UCLA to get medication and start a study of compassionate use? A compassionate use is outside of a clinical trial for a medical product that has not been approved, according to the FDA . 
 
 "Why did not we do that?" Maher replied, acknowledging that science was Xcellent and that it was a potential treatment to help the enzyme cross the blood-brain barrier - a protective envelope "Saran for the brain" - that Aldurazyme could not do . But Maher worried about the risk of delivering this enzyme in the spinal fluid and its safety. While they were working in the process of beginning the study, the security issue held Maher overnight. 
 
 But Ryan lost every day the retention of memory. For him, the benefits outweighed the risk. 
 
 In April 2012, the study began. Every twelve weeks he went to look for a torso of the spine that asked him to rest his belly for 24 hours. 
 
 
 
  
 
 
 
 After a month, Ryan had the impression that his ability to memorize was improved. It was three months later that he was reading. After four months, Ryan entered the clinic to tell Maher that he read a book throughout the weekend and reminded him. 
 
 Treatment has not simply stopped its cognitive decline. In an innovative development, the infusion reversed it. 
 
 "All we hoped for was that we could stabilize it," Maher said. "We had no hope that it would improve. What this shows, is that the right drug that does its specific function, even in the brain, can lead to a The damage that we thought was done to the brain was not to permanently damage these circuits, the lights were extinguished, and then these circuits began to shoot very quickly. "
 
  
 
 After graduating from Brookhaven College in Texas, Ryan eventually was able to attend the University of Louisville and take a full course . He also began working for the equipment staff. 
 
 Cognitive tests showed an increase. His ratings improved As and Bs, and he appeared on the sportsman's honoring role for three years. 
 
 This weekend   Ryan gets his Bachelor's degree in Sports Administration. He wants to work in the management of the sport for a professional team  . 
 
 
 
  
 Kakkis will graduate. Maher firmly believes that people like him and Mark Dant can change the world. Aldurazyme est maintenant le seul traitement approuvé pour les patients MPS I. Un essai clinique à l'UCLA , En utilisant le traitement qui a aidé Ryan de façon cognitive, continue. Un article a été publié cette année   détaillant l'étude de cas de Ryan. 
 
 "La recherche désespérée de Mark pour un traitement pour son fils a permis de comprendre La récupération neuro-cognitive qui était inimaginable ", a déclaré M. Maher. 
 
 La Fondation Ryan pour la recherche sur les maladies rares continue sa mission, Et Mark est maintenant maintenant président et chef de la direction de la National MPS Society 
 
 "Certains parents n'ont pas vraiment le désir ou le désir de faire autant de travail que mes parents", a déclaré Ryan. "C'est incroyable de voir combien ils ont travaillé pour améliorer ma vie. Après avoir pu traverser la scène et voir le voyage que j'ai eu, maintenant je peux voir quel est mon prochain objectif: trouver un excellent travail, obtenir Mariés, ont une famille et apprécient la vie. "
 
 Ryan a toujours été informé de ce qui se passerait. Maintenant, le don de ne pas savoir est le plus grand qu'il puisse avoir, a déclaré Mark. 
 
 «Pendant de nombreuses années, je ne me permettrais pas de visualiser Ryan dans un bonnet et une robe et d'apprécier ce que l'on pourrait avoir l'impression d'être diplômé du collège, car il ne se produirait pas" Mark a déclaré. "Mais Ryan, et tant d'autres, ont permis de ne pas abandonner." 
 
 C'est pourquoi le diplôme de Ryan n'est pas seulement l'un des milliers qui se passe dans le pays ce mois-ci. Il est un sur un million.