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Ehlers danlos

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Ehlers danlos

  1. 1. If   you’re   curious,   check   out   this   ar2cle   I   found.   It   does   a   be8er   job  then   I   could   at   explaining   why   I’ve   been   sick   so   long.   I   have   a  gene2cally   inherited   disease   called   Ehlers-­‐Danlos   Syndrome   [EDS].     I  was   a   long   &   frustra2ng   8   years   being   misdiagnosed   again   &   again.   In  2006   an   EDS   expert   at   U   of   M   made   the   defini2ve   diagnosis   aNer   two  Beaumont   docs   started   puPng   the   puzzle   pieces   together.     ANer  examining  my  family  history,  (Provost/Buckley  side),  it  was  clear  that  my   Mom,   Grandma,   my   Aunt   Helen   &   cousin   Greg   had   EDS   of   varying  types  &  severity.  EDS  explains  my  joint  pain,  falls,  insomnia,  fa2gue,a  stroke   &   several   miscarriages.     These   symptoms   started   when   I   was  just  a  kid  &  became  disabling  &  chronic  in  my  30’s.        There   is   no   treatment   or   cure   for   EDS   so,   at   best,   doctors   can   offer  help  managing  chronic  pain  &  fa2gue.  I’ve  tried  every  combina2on  of  medica2on  you  can  imagine  and  aNer  10  years,  the  toxic  side  effects  became   worse   then   the   disease   itself.   Everything   changed   when   I  found  a  pain  doc  who  transi2oned  me  off  the  serious  meds  slowly  &  safely.   It   was   like   I   came   out   of   a   coma   &   the   nightmare   became  tolerable.  It’s  been  2  years  &  I  improve  more  every  day.  There  is  no  way  to  predict  the  road  ahead  because  nothing  can  slow  or  stop  the  progression  of  this  disease.  I  plan  on  making  up  for  lost  2me  &  enjoy  this  remission  of  sorts  for  as  long  as  it  lasts.      Pat   &   I   celebrated   our   25th   anniversary   this   summer   by   taking   an  Alaska  cruise  &  we  went  dogsledding  on  a  glacier.  That  qualifies  as  a  miracle   in   my   book.   I’m   much   be8er   but   my   jaw   con2nues   to  deteriorate   &   I   had   yet   another,   cranial/maxillofacial   surgery   in  September.  The  goal  is  to  correct  my  bite  with  bone  graNs  in  my  sinus  &   implants   to   help   me   talk,   chew   &   swallow   much   be8er.   My   brother  told   me   recently   he’s   never   sure   what   to   say   when   people   ask   him  how  I’m  doings.    He  does  just  fine  &  keeps  it  simple  by  saying,  “she  has   her   good   days   &   bad   days.”   I’ll   let   the   EDS   Na2onal   Founda2on  explain  it  in  detail.  ;D    EDNF  [Elhers-­‐Danlos  Na0onal  Founda0on]    What  is  Ehlers-­‐Danlos  syndrome?  The   Ehlers-­‐Danlos   syndromes   are   inherited   in   the   genes   that   are  passed   from   parents   to   offspring.   More   than   1.5   million   people  around  the  world  have  Ehlers-­‐Danlos  syndrome  (EDS).  Someone  with  EDS   is   born   at   least   every   half   hour,   and   many   won’t   know   what’s  wrong   with   them   un2l   its   too   late   for   them   to   be   helped.   EDS   is  largely  unknown.  Recent  evidence  indicates  it  may  be  one  of  the  most  under-­‐diagnosed   disorders,   because   there   is   no   cure   and   many  doctors  consider  EDS  too  rare  for  anyone  to  have.        Ehlers-­‐Danlos   syndrome   is   a   group   of   disorders.   Each   type   of   EDS   is  defined   as   a   dis2nct   gene2c   problem   in   making   or   using   one   of   the  types  of  collagen.  Collagen  (like  glue)  is  used  by  the  body  to  provide  strength   and   elas2city   to   2ssue;   normal   collagen   is   a   strong   protein  that   allows   2ssue   to   be   stretched,   but   not   past   its   limit,   and   then   is  safely   returned   to   normal.   With   badly   built   or   processed   collagen,  some   of   the   soN   2ssue   can   be   pulled   further   than   is   safe,   causing  damage.   Collagen   is   the   bodys   most   abundant   protein   and   can   be  found   almost   anywhere,   in   skin,   muscles,   tendons   and   ligaments,  blood  vessels,  organs,  gums,  eyes,  and  so  on.    EDS  has  a  very  wide  range  of  symptoms  because  of  how  widespread  in   the   body   collagen   is.   EDS   causes   joint   hypermobility   (loose   or  unstable   joints   that   slip   or   dislocate);   early   osteoarthri2s;   2ssue  fragility,  skin  that  tears  and  bruises  easily,  blood  vessels  and  internal  organs   such   as   intes2nes   that   can   rupture   easily;   eye   problems   and  gum  disease.  Some  symptoms  can  be  seen,  but  not  all;  EDS  is  largely  invisible.   Pain,   for   instance,   can   be   widespread—collagen   makes   up  the  fascia,  the  2ssue  sheet  that  holds  everything  together  and  wraps  around   your   en2re   body—but   the   pain   will   not   show   up   in   MRIs   or   X-­‐rays.  There  is  no  cure  for  EDS  but  many  symptoms  can  be  addressed  as   they   arise.     Free   informa2on   and   resources   from   Ehlers-­‐Danlos  Na2onal   Founda2on   can   be   found   at   www.ednf.org   or   reaching   the  founda2on  on  Facebook.    [Wri8en  by  Mark  C.  Mar2no]