moyamoya brain surgery ???

as some of you know, my battle with moyamoya disease has been a long and arduous journey of at least 20 years. in 1992 i originally started at a gym with step aerobics classes,however after a couple of months (?) my blood pressure started to rise near the end of the class, i had also started having memory problems. it was suggested by my doctor,at the time, to try working with light weights for toning rather than the aerobic workout. things were fine for a few months. however, one morning i started my workout on the pec deck with 3 sets of 15 repetitions, with very minimal weight as i had found using the pec deck my biggest challenge somehow. now, i had a history of migraine headaches which had started at age 19,i believe without this history of severe head pain i would have fallen to my knees at that point of standing from the pec deck... for as i stood, it literally felt as though someone had hit me in the head with a sledge hammer with the force usually reserved for the strong man ringing of the bell at a carnival.
i could not speak,i could barely think or function as the pain was so overwhelming. i managed to walk along the wall to the other end of the hallway,maybe 25 feet,as no one else was there and i felt safe to sit,my body slid down the wall and i sat... holding my head, tears started to flow but still i could not speak. i have no idea now how long i sat there, if i had my son,age 2 or possibly had just turned 3 at the time, at the gym with me. whether i drove home and called the DR or if i drove to the doctors office or whether my husband,at the time, picked us or me up at the gym and drove me to the DR. i do remember the DR thinking it was a migraine and my insisting it was not. he insisted that as my migraines had changed several times over the years that this was simply once again a change in the routine of my migraines. though i was still in pain,less pain than the onset but yet pain equal to a strong migraine without the typical side affects of my migraines and i believe taking my usual migraine medication, i could think of no better way to find the truth than to go back to the pec deck at the gym the next morning.
so i did just that, i returned to the pec deck the following morning. as i attempted what was to be the first of 15 repetitions, almost immediately the pain started to intensify in exactly the same place as the day before. i drove straight to the DRs office, he saw me almost immediately... i explained what i had done and what followed... he then agreed with me that this was possibly something other than a migraine and sent me straight to the emergency room with his written instructions for an MRA of the brain,an mra is an mri with the injection of a dye for the purpose of following the path of the dye. he instructed me as i left to insist they follow his instruction in using the dye as it was medically necessary. however, the radiologist felt it was NOT necessary and did a regular MRI instead... the test was inconclusive, i then had to return the next day for the MRA with the instructed use of the dye.
the MRA revealed a small brain bleed had occurred from a small blood vessel in the outer layer of my brain, i believe it was near the brain stem. i was told it also revealed there was no tearing of the blood vessel involved but that it had caused a seepage of blood, the same type of seepage that causes you to form a bruise under the skin, but that my pain was severe because the blood had seeped into my brain fluid surrounding my brain which is meant to protect the brain and also allow it to move freely as we move about... the seepage of blood into my brain fluid was keeping my brain from moving freely and that it could not be removed by surgery and so i would have to give it time to clear out on it's own, which could take some time but but they could not predict how long. i was restricted  for the duration of the necessary time from lifting more than 5 pounds, from bending forward and anything else that would cause increases pressure or unnecessary movement of head and brain.
it took approximately 7 months of not lifting my son,sitting on the floor to carefully play with him or even sort laundry,sneezing was a horrific and God forbid, throwing up was 5 times worse,i believe there were out patient hospital visits for test after test,MRA and MRI after MRA and MRI, blood test after blood test... all in search of strokes and brain tumors, testing for heavy metal poisoning, hormone levels, brain tumors,lupus and anything else they could think of. during this time my marriage had deeply deteriorated and i had been informed in november of 1993 that my brother Mark was living with full blown AIDS ( Mark had found out he had HIV after having his spleen removed while i was pregnant. he did not tell us about the HIV as he did not want to take attention away from my pregnancy...  i had a difficult time getting pregnant and difficulties during my pregnancy and he feared the stress may have caused me to loose my baby).
while my ex-husband and i where dating and during our engagement my father had, i believe his third heart attack followed by open heart surgery,which quite by accident lead to the discovery that my mother had breast cancer and a partial mastectomy. i lost my mother to liver cancer july 29,1987 just 5 and a half months after getting married i believe it was within 4 months of her death, that his father had an aneurysm of the aorta with successful surgical repair. i'm unable to remember for certain,though i believe it may have been during the winter holidays of 1989 or 1990 his father suffered a severe stroke which left him in a nursing home unable to communicate, and at some point my father started having mild strokes. my ex-husbands father passed away on our sons 1st birthday in 1991. then just as it seemed i was finally recovering from my brain bleed,we are informed of my brother having AIDS... 1 long term illness or one death in a family puts a strain on a marriage,we were enduring multiple overlapping illnesses and deaths, along with,at that time a
private issue,affecting our  marriage.

then,i believe january 1994 almost a year after the brain bleed... i awoke in the middle 
of the night... i felt very odd, not like myself,i had numbness of my right leg,arm and side of my 
face... back to the hospital, more tests, more DRs, all standing around my bed with their 
clipboards... all asking me questions,asking each other questions as they all flipped back and 
forth through my records tossing ideas and opinions back and forth like a game random ping pong
 being played by 8 or so DRs over my bed. ...i was asked once more to describe the events of that night before, 
suddenly i heard 2 words jump out for the first time... LYME DISEASE !! they all scurried through 
their reports, checking to see if there had been any mention of it or any test for it,it was no where
to be found. the blood test was ordered and found to be positive. FINALLY, they had found an 
answer which made sense to them all.
i was immediately started on a 3 week course of oral antibiotics. still positive,another 3 week 
course of oral antibiotics,still tested positive,followed by what turned out to be the 3rd and 
final 3 week course of treatment for LYME DISEASE !! 
i will not share with you my ex-husbands response to my diagnosis of lyme disease. i will 
tell you that it was during my treatment that i first brought up the subject of separation. 
after my diagnoses and treatment of lyme disease i was informed that it was possibly the cause 
of my brain bleed, though they could not be sure as we did not know when i had been infected.
i was told that after having had lyme disease i was not allowed to donate blood or organs, that
they believed the brain bleed was a 1 time vascular event,however i should not have another
child because they felt a pregnancy could 'possibly' cause it to happen again and that i 
would likely miscarry or if i did carry to full term it could 'possibly' put both the baby and i at
risk of death during delivery. it was necessary to have a lyme test i believe every 3 months at
first,then every 6,then every year.( i have not tested positive for lyme disease following the 3
three week treatments in early 1994). i was also to have an MRI done periodically to keep an
eye on my blood vessels in my brain, i was told i would have hypertension the rest of my life and 
also diagnosed with fibromyalgia + most likely would be in a wheelchair within ten years. 

for the next 14 years i was in and out of emergency rooms,DRs offices and neurology 
departments,had numerous MRIs,my blood pressure became uncontrollable in 2001 
periodically spiking higher and higher including several years when it would suddenly spike up
as high as 230 systolic, each time unable to get ANY medical records from the
1990s including MRIs,MRAs or any written reports from that time and each time getting no 
answers for my tremors,uncontrolled muscle movements etc.
in 2005 i was finally told by one neurologist i had previously suffered a stroke in my left pons,
still all was blamed on everything from~ getting myself all worked up,to menopause, to caffeine
(even when i was drinking non) and of course always testing me for street drugs and being
shocked to find none, to repeated testing for lupus,heavy metal poisoning,to addison's,
parkinson's,MS etc.

so,3 years ago,2010 i finally received a copy of a report from 1996 comparing an MRI done then to an MR done in 1994-the year i was diagnosed+treated for lyme disease+told my brain bleed was a 1 time vascular
event- *yes i have mentioned this part here on my blog and other online sites over the last couple of years*-
the report ...( *perfectly describes moyamoya disease,but i was never told any of the findings from that report because they once again diagnosed it ALL  as a 1 time vascular event* ) ...was found about 2 weeks before my appointment to schedule brain surgery for MOYAMOYA disease (which had finally been properly diagnosed in 2008) and it was that report along with scans done
between that diagnosis and the appointment to schedule my surgery that brought us to the understanding
that surgery was out of the question and the agreement it would only be done as as last chance effort to
save my life, if there was still a possibility of quality of life.
       ...well, due to symptoms i'd been having i was brought in for new CT angio scans of my brain in august
or sept. not sure,the preliminary answers i received that day were that still 20 years after that brain bleed, for
which we still had no records for-to see if any of the signs were there at that time- there is still no sign of moyamoya on the left side of my brain... which was his main concern at the time.
       
    ...so yesterday i went for my yearly exam and the follow up appointment to those new scans...
*today i called my nurse practitioner who was w/me yesterday,to be sure we both heard the same thing*
he had asked if i have had any TIAs (***  http://en.wikipedia.org/wiki/Transient_ischemic_attack ***)
since those scans i said yes 2 but i don't remember exactly when. then showed us parts of the scan and
zoomed in on the tiny tangled moyamoya blood vessels and vessels with blockages they have grown from
the new scans show improved blood flow in the area near the moyamoya blood vessels...
so from what i understand:
     probably due to the medications he has had me on since my diagnosis in dec 2008, the TIA's i have experienced in 2012 and now in 2013 were caused by clots that have broken away from the blockages of the blood vessels from which the moyamoya vessels have grown... we are to contact him if i have any more what he called HARD TIAs that affect my left side such as use of my left arm or left leg as in loss of movement,severe numbness for a period of i think 15 to 20 minutes and then goes away or other signs of stroke are that go away such as loss of speech, vision changes beyond my normal migraine or moyamoya vision.
     depending on the symptoms if i have more TIAs he will decide if new scans are warranted and then if the brain bypass surgery can be done... as it should have been years ago,instead of a risky last ditch effort to save me during a stroke. of course the normal risks of this type of surgery would still be there.
               ***there may possibly be a chance for me yet***
and i will know exactly who to thank if i get this chance and in which order... ;)

due to government cut backs...

**as you will see,this post was disrupted during a computer update,crossing my fingers this was the only one! i salvaged what i could because of what i believe to the irony of the next post after this and after my neurology appointment (though the new information,if it leads to what we are now hoping, could still be affected by government cut backs).**

i know i haven't been online socially for a bit now. i did post a tweet that i would be resting. what i didn't say was, maybe because i didn't realize it at the time, that my brain needed a rest from things like the government taking away or threatening to take away things like rare diseases research, medicare,disability and more, from those of us who need it most. along with the thought of so many people seeing this as the right thing to do.
just when we have started learning so much through stem cell research and genetic testing, i fear, during my up coming appointment with my stroke intervention/moyamoya neurology specialist, i may be told i will not be allowed to come back *not to mention the fact i signed legal papers to donate my body for research of moyamoya and other vascular diseases and what happens if i die before they get their heads out of their a$$e$* because of government cut backs, ...no matter if it is through sequester cuts to teaching hospitals and payment to DRs accepting medicare or obama care cuts to medicare coverage... either one could mean losing the most important doctor in charge of my care for a rare disease, which is actually one cause of one of the leading causes of death or disability in this country and many countries around the world, STROKE, and one that is responsible for many of the strokes endured by infants,children and young adults. i do not understand why the cause of a persons strokes is less important than the strokes themselves. i do not understand why a persons age is considered a factor in whether or not they receive benefits for treatment of something progressively debilitating and disabling, not to mention deadly, for which there is no cure.

i do not understand how the deprivation of medical research and treatment of any disease, rare or otherwise, by ones own government, or any government program, state or federal, is not seen as unconstitutional or at the very least medical discrimination.

i do not understand why i am repeatedly asked,*during home visits, for review of my disability program qualifications or as part of my care team (of which i am supposedly a part of) by people who have little or no knowledge of moyamoya disease*, things like 'why is it so dark in here' to which i reply 'because bright light and shadows make me dizzy and disrupt my brain recognition and vision', or 'why is it so cold in here' to which i reply 'because i get over heated easily,causing me to feel faint and fatigued', or 'how are you sleeping' to which i reply 'i've been sleeping a lot cuz i'm not feeling well,or,i've been in a pattern of sleeping 4 hours awake for 4 hours,sleep 4 awake 4... or,i've been having insomnia or lost time eoisodes... all of which i believe to be part of moyamoya, the part they call altered states of consciousness or 'how often are you eating','how has your mood been'. ...'i think you should take a blood pressure pill','you haven't had any emergency room visits in quite some time now' << these last 2 get the same response 'because i live here with as much independence as possible i'm able to follow DR, Zaidats instructions on how to take my blood pressure and my blood pressure medication, and because of that i do not need to go to the emergency room every time my blood pressure goes to high, nor does it go to low as often,which is just as dangerous to me as that can cause a low flow stroke', to which one nurse repeatedly tells me 'this is not the way this blood pressure medication is normally prescribed', to which i repeatedly reply, 'i'm not a normal blood pressure patient, i am a moyamoya patient with high blood pressure which means i have different blood pressure parameters of 130 to 150 systolic',*even after he told her himself ,a year ago in his office, that i'm doing it right, i still had to explain it to her again this past friday*.'have you had any falls','do you own your hospital bed,because you don't fit our criteria for needing one' (WTF?),or a pharmacist asking me over the phone 'why are you taking so many prescriptions for cholesterol when your cholesterol is better than mine and i'm younger and physically fit' to which i replied 'do you have moyamoya disease or a history of stroke?' i believe he replied humbly 'uuhh,no.' then filled my order and shipped it to me.


LMAO,WOW!!...i guess THIS.... >>> ... *data-blogger-escaped-..="" data-blogger-escaped adventure="" data-blogger-escaped-all="" data-blogger-escaped-am="" data-blogger-escaped-and="" data-blogger-escaped-anyone="" data-blogger-escaped-anything="" data-blogger-escaped-are="" data-blogger-escaped-as="" data-blogger-escaped-be="" data-blogger-escaped-but=""*...  <<< ... is what happens when you upgrade back to windows7 from vista and data gets transferred BEFORE 238 problems can't be fixed till after upgrade!
            ... i decided not to delete it all because it reminds me of  the movie 'THE SHINING'!!!! CLASSIC!!!!! LMAO!!!
                                               **no clue what is missing here**

'what are your goals' ok,this is a touchy one for me... i mean seriously, what are my goals? here THEY are viewing ME as a normal stroke survivor they are expecting to talk about having recovery goals they hope to meet. not viewing ME as an individual person who has had this progressive brain disease for at least 20 years and is unable to have brain bypass surgery because i was misdiagnosed for 14 years! taking a dozen or more prescriptions, most of them more than once a day to live, and there THEY sit insisting I need to set a goal. 'it's mandatory for everyone on the program to set goals every 6 months' they tell me... so for the last 2 years my goals have been raising awareness of moyamoya disease, to, raising awareness of moyamoya disease to a larger audience through twitter,to, continuing to raise awareness of moyamoya disease through twitter and to reach an even larger audience through face book and now my blog,to, continuing to raise awareness of moyamoya disease and the other 7,000 rare diseases through twitter,face book,my blog and volunteering for clinical testing of moyamoya disease,plus legally donating my body then for further research of moyamoya and other vascular diseases'...
                     due to government cuts... have all my efforts been in vain...

a day older than i thought i was...

yes, that's right, i've suddenly realized i am a day older than i thought i was...
how is that possible? you ask...
well, thanks to my friend MOYAMOYA disease and it's numerous friends it has brought with it,which go by such names as TIA, STROKE, INTELLECTUAL DISABILITIES, BRAIN DAMAGE, BLOCKAGES and possibly 1 named ANEURYSM and i forget the rest...

along with the fact that MOYAMOYA and more and more of her  friends have declared squatters rights in my right brain over the last 20 years ... which was the cause of a cranial civil war for 14 years (( during which time 1 STROKE a few minor BLOCKAGES and the possible  young ANEURYSM have defected from their leader to the LEFT BRAIN))  as that is how long it took for these medical ninja's and all their destruction to finally and officially be identified.

now where was i? ah yes, i was explaining today! 
      i woke up sunday morning ( hold this thought for later ) to a howling chill making it's way through the house ( which is really a tiny studio apartment attached to a house, but,to me it is like a tiny little home of my own ) when curiosity took me to the MSN page to check the weather report. a wind advisory explained this howling chill.
      on my way to the weather section i had glanced at headlines of the coming resignation of the pope and of grammy award pictures,which lead me to think for a moment~ oh,i guess the grammys are on tonight. however,after the weather report and upon closer attention to the next grammy photo caption i noticed And the 2013 winners were ... !
      for a moment i thought, that's odd,i thought the grammys were always on sunday night... it still took a moment before the click... then suddenly, with the same controlled 'nobody move' moment of panic i have witnessed many times when someone loses a contact lens, i cautiously placed my cursor in the far lower right corner of my screen, where you find the time of day... and there it was... in black and white... Monday,February 11, 2013... thus making ME, the food in my fridge and well yes, the entire world, 1 day older than i had thought upon waking to the howling chill, which seems more fitting of the day that now feels like an episode of  " THE TWILIGHT ZONE " ~ cue music  THE TWILIGHT ZONE THEME - YouTube

and the meek shall inherit the earth... REVISED

       seems the world is turning backwards,the oceans are flowing inland, 
droughts are lasting longer,growing larger only to be followed by floods that wash away anything and anyone left in their path. earthquakes in unusual places. tsunamis, tornado outbreaks, hurricanes all bringing more mass destruction, with death tolls as we ourselves have never seen before,
the climate is changing we must adapt.
       war, genocide, greed, hate, fear and petty bickering bring more destruction and devastation devouring more time, energy, money and lives. all while it could be put to better use saving lives! no one is winning here,everyone is losing! violence begets violence, hate begets hate. has history taught us nothing? with all our planning for the future we forget the past and ignore today...
       but NOW is the time for a meeting of the minds that what we have been doing is not working. before it is too late we must live and let live, learn to work together to make what SEEMS impossible,possible!
         we must lay our weapons down, set aside our differences ...we must pick up our tools and clean up,rebuilding and replenish what has been lost.i'm not talking bigger's better or who has the most wins. ...i'm talking,saving the most lives,while creating the best quality of living for everyone everywhere!! not with the most expensive,not with the most elaborate...but,the most humble...most basic necessities for all first and foremost.
           we must have equality,honesty and acceptance in health care,nutrition, housing, education and medical research for all. we must have acceptance,respect and equality of race, age, gender,disability,religion, sexual orientation, same sex marriage and so much more!!!!! 
ALSO:what good comes from spending money to find more planets, as we self destruct?

at a time when i couldn't say it again... i found someone to help me say it ...

THE GLOBAL GENES PROJECT...
... i have 1 of over 7,000 rare disease...
I and the others are now global!! THANK YOU!!!
1 in 10 Americans... 350 MILLION GLOBALLY!!!

THIS NO LONGER SEEMS IMPOSSIBLE!
http://globalgenes.org/ 
http://globalgenes.org/blog/
http://globalgenes.org/blue-denim-genes-ribbon/ ...and more...

just wanted to share this wonderful tweet i just found from like 16 hours ago!.... only wish i could write so eloquently !

Jovian Moons ‏@JovianMoons

@moyamoyagarden just checking if your #BULLSHIT shitty bleeding brains still functioning because that's too bad be R.I.P soon. AP hates you

this was so incredibly moving to me i just had to reply

@JovianMoons thanks so much for taking time out of your busy day to wish me an early R.I.P. you are truly too kind! <3xxx span="span">
             

Psychiatry vs Neurology...

i am a multiple stroke survivor with half a brain from moyamoya disease,i also have post traumatic stress from multiple life experiences. 
i have been receiving treatment for both,plus i have been on an SSRI.

due to my worsening physical conditions,including my tremors, uncontrolled muscle movements with extremely painful muscle contractions throughout my body,including freezing of arms and legs while walking. my neurologist has recently been ruling out different medications as the cause for the worsening of these symptoms by stopping medications for a time,then restarting if there is no change in symptoms.

most recently he has me cutting back on the SSRI meds,which recently have come into question as possible causes of hemorrhagic strokes (brain bleeds). though i do not know his opinion of this recent study.

last week thursday, while seeing my psychiatrist, i was shocked to learn of his strong resentment toward neurologists (on his part anyway) when it comes to differing opinions as to the effects on patients with brain damage and the use of SSRIs. 

this was the 1st time i had seen him without a nurse practitioner or other medical type person from the program in the room,so of course i have no witness to his anger toward my neurologist or myself, for choosing to follow through with stopping the use of the SSRI even long enough to find if my muscular symptoms improve.

the psychiatrist was very adamant about his thoughts that this was a mistake and therefore he would not continue treatment with me unless i come to the conclusion that stopping the SSRI was a mistake and was ready to go back on them,he also stated if my neurologist wants to treat me with a different kind of medication other than an SSRI he should feel free to do so without him or his approval,at which time he dismissed me, now stating there would be no more appointments with him until i am ready to return to taking the SSRI ,as he escorted me to his office door.

due to my PTSD (which causes fight,flight or freeze responses) i froze, unable to ask about further treatment of my PTSD,including HIS prescription of anti-anxiety medication and HIS recommended monthly counseling sessions. 

I BELIEVE IT IS MY LEGAL RIGHT TO REFUSE OR STOP ANY TREATMENT OR MEDICATION WITHOUT RETRIBUTION OR REMOVAL OF OTHER TREATMENT OR MEDICATION UNDER *COERCION* OR ANY OTHER DEMAND BY ANY TYPE OF PHYSICAL,NEUROLOGICAL OR PSYCHIATRIC DOCTOR.

*coercionWeb definitions: the act of compelling by force of authority.

wordnetweb.princeton.edu/perl/webwn

~ i would greatly appreciate legitimate opinions on this matter~

                                                           

                                                     ~PLEASE leave comments below,THANK YOU!!~

explanation of an election inspired tweet...

after having watched this video: 

https://www.youtube.com/watch?feature=player_embedded&v=ZENtH3psXl4

having seen so many more like it, in it's same ignorance and audacity, it was the straw that broke the camels back. i sent a tweet about: ROMNEY RAINCOATS NOW MADE BY TROJAN! 

which was in no way intended to make light of the the storm named SANDY or any other of the VIOLENT FORCES OF NATURE occurring around the globe through climate change.

it was and still is a comment on MITT ROMNEY himself and his character or as what i see as a lack thereof. 

he has stated many times that if elected,he would overturn roe v wade and get rid of planned parenthood. among many of what i see as atrocities, that he would see as his right to try to impose upon us, 'IF' he were president. which i for one find terrifying.

though my full thought behind my tweet did not come to full fruition to even MYSELF until a few moments ago, somehow a subliminal message from my subconscious gave me the punchline for what i see as a sad and unscrupulous JOKE of a man named MITT ROMNEY.

it was my awkward way of saying, CLIMATE CHANGE AND THE DEVASTATION AND DESTRUCTION OF HUMAN LIFE, ECONOMIES,WILDLIFE, ECOSYSTEMS AND SO MUCH MORE. IS THREATENING OUR ABILITY TO LIVE - IN HOMES, BREATHE -CLEAN AIR, DRINK CLEAN WATER AND EAT-UNCONTAMINATED FOOD, TO CONTINUE TO WORK TOWARD GLOBAL HEALTH CARE, MEDICAL RESEARCH AND DISTRIBUTION OF PROPER MEDICAL SUPPLIES AND EDUCATION TO ALL ... PLUS MORE...  
       
with our planet and our futures already hanging in the balance...

i've had to ask myself: as a president faced with a crisis...what would mitt romney say to his country? .....SADLY, 
                          i fear it would be something like this... 

       I'VE ABOLISHED PLANNED PARENTHOOD SO THERE ARE PLENTY OF *RAINCOATS* TO GO AROUND, GO BACK TO YOUR HOMES AND CALL 211. IF THAT DOES NOT WORK, NOT TO WORRY! BY ABOLISHING MEDICARE AND MEDICAID THERE ARE PLENTY OF CYANIDE PILLS FOR THOSE NON BELIEVERS! 
           EVERYONE ELSE PLEASE STAY WHERE YOU ARE UNTIL THE STEALTH ARK I'VE HAD BUILT COMES TO PICK YOU UP  ...BE SURE TO KEEP YOUR PORCH LIGHTS ON SO THEY CAN FIND YOU, AS YOU WON'T BE ABLE TO SEE THEM... AS...WELL, BECAUSE IT'S STEALTH...
           

Dear Lord In Heaven... ...my prayer still stands...

as you know yesterday was diana's back surgery. 80% through the surgery they had to stop,as one of her legs stopped responding to all stimulation. as she lay unconscious and helpless,doctors tried unsuccessfully for 2 hours to get any kind of response. i am so afraid for her,she may be in her twenties,but we both know her mind is not equal to her years and she has more physical difficulties than that which they were trying to correct with the surgery. i fear  losing the use of her leg would be far too much of a burden for her,she so loves to dance,she works hard at her job,she loves to go for walks and talk with neighbors and play with their pets,she loves to play with her nieces and nephews,she loves to feel pretty...which she is all the time,tho she doesn't FEEL that way. already she will never drive a car or have children and so much more...please don't let the use of her leg be taken from her too!

her oldest sister theresa is also going through tough times with the court battle over placement of her daughter elliana...

i ask you please to spare them ALL such deep pain and give it to me in their place... my life cannot be spared from this disease... you have blessed me with an extra twenty years of moyamoya not effecting the left side of my brain,tho this years scans show blockages and possibly an aneurysm on the left side along with an old stroke in my left pons... moyamoya in my left brain is around the corner for me already... 
                                       
                  i will gladly turn that corner now to spare the next generations of my family from the pain and loss that possibly stand at their doorsteps now and in the future. let me take the proverbial bullets for them...

                  plus, i can deal better with my own afflictions than i could ever bare theirs,so please Lord i ask you to spare my loved ones and give them the health and happiness we both know i,already, will never have again ...
                    i am not giving up and if it is your will,i'll continue to fight to come back as far as possible from however far you take me and to fight to continue raising awareness of MOYAMOYA DISEASE  so they and others will not be faced with THIS either ...please let me do this with YOUR strength, grace,guidance and power of unconditional love !!! ...AMEN...

       TODAY,diana thankfully has the use of her leg back,however upon waking up, she began thrashing about. DRs placed her in a medically induced coma so as not to hurt herself. ~ it was also decided they will finish the other 20% of her back surgery early this next week... ...also days later theresa goes to court once again,tho in wisconsin,because the new jersey judge did not want the case and immediately ruled it a wisconsin case ... ...as both outcomes are yet undetermined ...
                           ... my prayer still stands... ...AMEN...

ya,about mitt romney...

 Romney Says We Should Be Responsible For Ourselves Yet He Spends MILLIONS Of  DOLLARS Of Other Peoples Money To Try To Be President...  Its Like He Feels Entitled... And By His Own Thinking, Sounds Like He, himself, Can Not AFFORD To Be President...

                                                                                 ... just a thought ...

a letter to MARIA SHRIVER,
          
     july 16-17,1963 i had a baby brother named teddy. he had been born prematurely and weighed 2lbs.8oz. my mother had contracted german measles while pregnant. i remember it still,like it were yesterday,even tho it was a month and a half before my 4th birthday.
     the doctor said if he had lived he would most likely have been severely retarded,physically handicapped and possibly blind,so his death was probably best for all of us.i disagreed with him on that last part,i just wanted my baby brother alive.my other siblings and i never saw teddy and were not allowed to attend his funeral,as far as i know he was not even photographed.
      as a family with  many elderly relatives we had been to funerals before and so i didn't understand not being allowed to go to the funeral of my very own brother. also,i didn't understand how a baby could die,being that the other relatives were elderly and had died of natural causes. i wondered at the time if he had somehow gotten old before he was born,if he had been inside of mom while she was inside grandma.that was when i figured out my parents,my older siblings and even i could die.
      teddy wasn't talked about much,but i did learn, sometime later,that my father had 2 older brother who had died of crib death. his mother lived with us,as did his father until his death in 1962. so my father and my grandmother had never lived apart and now i knew why. i knew now why she doted on him so... and i understood her pain and my parents pain at the loss of a child and or children. 
        i remember PRESIDENT JOHN F. KENNEDY while he was in office and the KENNEDY FAMILY during what would be the end of the CAMELOT years,as his assassination was that fall after teddy passed. i knew your families pain and wept for you.
        sometime after that i remember your mother in her crusade for,in terms of the time,the mentally retarded.i remember seeing her with the special Olympics children and thinking,to myself,of my brother teddy.wondering,as i looked at their smiling faces and their accomplishments,which child would he have been the most like,what could he have accomplished...
          i loved your mother for that... for,the much more positive view of how my brothers life may have been and a much more positive view of myself for having disagreed with that doctor who had said my brothers death was probably best for all of us.

          so now,all these years later i find myself on my own crusade. one of trying to save lives and the quality of those lives,one to open the eyes,hearts and minds of doctors,parents,teachers,parents to be and more,to the possibilities of STOPPING as many intellectual and physical disabilities BEFORE they happen as we can and to lesson the depths to which they occur in association with other diseases,disorders or illness.
         
       i am speaking of STROKES, ANEURYSMS, CERTAIN SEIZURES and more for INFANTS, CHILDREN AND ADULTS: STROKE IS THE #1 CAUSE OF DISABILITY IN ADULTS IN THE US AND 1 OF THE TOP 10 CAUSES OF DEATH IN CHILDREN!!!!!
           I HAVE JUST READ THIS 1ST UPDATE FOR THE FIRST TIME JUST NOW AND I AM ECSTATIC !!!!!! what perfect timing!!!!!

Research Update « Moya-Moya.com DONATIONS ACCEPTED... please visit link for more info...

Research Update

Per Dr Edward Smith:
The Department of Neurosurgery at Children’s Hospital Boston is grateful for the substantial and ongoing support of the Justin Doo Moyamoya Reseach fundraising efforts. Through the efforts of the Doo family and their generous contributors, significant advances have been made in the understanding and treatment of pediatric moyamoya.
Children’s Hospital Boston (CHB) has been ranked #1 by US News & World Report in Neurosurgery and a major part of this ranking is derived from the expertise that CHB has in cerebrovascular disease. In addition to unparalleled clinical expertise in the treatment of moyamoya, the cerebrovascular surgical team at CHB, led by Dr. R. Michael Scott and Edward Smith, has a dedicated research enterprise with a specific focus on moyamoya. Over the past year, several major advances have been made, including:
1. Discovery of two new biomarkers, able to be detected in the urine, that help to identify the presence of moyamoya non-invasively in children.
2. Development of an animal model that allows the testing of new therapies for moyamoya, including delivery of molecules designed to enhance the speed and coverage of new blood vessel growth derived from the surgical treatment of moyamoya.
3. Activation of a new, web-based, HIPAA-compliant moyamoya database that links – for the first time – clinical, imaging and research data. This is the largest pediatric moyamoya database of its kind in the US.

In addition to these laboratory advances, research from the Smith laboratory and translational work from Dr. Scott and Dr. Smith has been presented at numerous meetings, including the International Moyamoya Working Group in Switzerland and the American Association of Neurologic Surgeons. Efforts from the CHB moyamoya program have been recognized in publications over the past year, with particular note made of the invited paper on new evidence-based guidelines on pediatric moyamoya (J Neurosurg Pediatr. 2012 Apr;9(4):353-60).

The previous year has witnessed significant advances at Children’s Hospital Boston in the understanding and treatment of moyamoya in both the clinics and the laboratory. Much of this work was possible solely because of the Moyamoya Research Fund, generously and substantively supported by the Doo family. We are immensely excited about the upcoming projects in the laboratory, with new discoveries fueling the potential for novel treatments for children with moyamoya. The rarity of this disease means that funding is difficult to find and this underscores the incredible importance – and impact – that the fundraising efforts of the Doo family has on advancing the field of moyamoya research. We are incredibly thankful for the support of all those that contribute to the Doo’s efforts and look forward to sharing our new discoveries next year at this time.                                                                                                                                 

 AGAIN~PLEASE VISIT  MOYA-MOYA.COM LINK ABOVE FOR MORE INFORMATION!

FOR MORE STROKE AND MOYAMOYA YOU CAN FIND LINKS, ARTICLES AND MY OWN PERSONAL EXPERIENCES THROUGHOUT MY BLOG POSTS 
             INCLUDING :  SEPTEMBER 14,2012
                                         JUNE 5,2012 
                                         APRIL 24,2012 
                                         APRIL 4,2012 
                                         MARCH 12,2012 ...2ND LETTER TO PRESIDENT OBAMA
                                         MARCH 10,2012 ...A LETTER TO PRESIDENT BARACK OBAMA
                                         JANUARY 12,2012 
                                         NOVEMBER 20,2011 
                                         NOVEMBER 2,2011 
                                         OCTOBER 30,2011

THANK YOU SO VERY MUCH 
                                       FOR GIVING ME THE BEAUTIFUL GIFT 
                                                                                                    OF REMEMBERING YOUR MOTHER                                        

WITH LOVE,ADMIRATION AND GRATITUDE,
PEGGY

the middle of the begining...

con't from post on wednesday november 2,2011
i had tried to fax the report from 1996 but the ink was to light, so i brought it to my appointment with DR, ZAIDAT . i handed it to him to read before talking about the surgery. after reading it,he leaned back in his chair and asked: how are you feeling about your surgery right now? i said,pardon my language but, i;m feeling pretty fucked out of it. he replied: ya,you are!
he then typed on his computer,which had to large swivel monitors attached,containing my brain angiogram . he turned the first screen toward my son and i saying,this is the left side of your brain and this is where you had the stroke in your left pons. my son and i saw what we expected and reacted accordingly. then DR. ZAIDAT turned the other screen toward my son and i. BOTH of our chins dropped! DR. ZAIDAT very calmly said,with hesitation. you... basically have half a brain. at this point there was total silence as both my son and i sat staring in disbelief. a moment later i looked at my son and said "well that explains a lot".

DR.ZAIDAT then pointed out the external carotid artery with blood flow,then slight blood flow near the internal carotid artery. he then pointed to the top saying most of the blood flow i had on the right side had grown over from the left,it reminded me of a bad comb over with the difference being mine was internal. he proceeded to point out the large mid area without blood flow.

now,at this point he sat back in his chair, in his own disbelief and stated he could not believe i was able to walk into the room with the use of a walker or that i could not only talk but hold a conversation. he proceeded to say he had never seen anything like this before and "that my brain and body had compensated in unimaginable ways". he basically had the same stunned look on his face as my son and i did.

from there he informed us surgery would be far to risky as there was nothing viable left to sew together,it would be like trying to sew 2 hairs together and have blood flow through them without leaking. he suggested that if i showed any signs of stroke on the left side of my body that he could admit me and try hyperbaric chamber sessions of 45 minutes a day for 4 days to a week (i think). we scheduled my next appoint for 1 year later.

just a few months later i had symptoms on my left side of having a stroke.i was living in an assisted living center,told the CNA the instructions he had given me of laying in an anti gravity position for up to an hour if i could. but if things got worse to come straight to the hospital. about 15 minutes in the anti gravity position my left side started going numb,i called the  CNA to my room told her of the numbness and said i needed to go to the hospital for possible stroke. i was not transported to the hospital for a total of 5 hours. .............to be continued...

panic attacks...

have you ever woken up in the midst of a full blown panic attack? well,i did just that this morning. let me tell  you it is a scary freaky ass way to start your day!!!!!


i've had panic attacks off and on for 10 years. sometimes they are quite mild and you can breathe through it. that's not the case when you awake suddenly, abruptly in a full on panic. (it's kind of like waking in the midst off a perfect storm within your self with no compass,no sense of direction,no idea how you got there and no sense of how to get back.) even though you know exactly where you are and what is really happening around, your body and your emotions FEEL as though you have just woken up alone on a ship in the middle of the ocean with no compass,no map,no radio,no flairs,in dense fog.


one of the best tools for controlling a panic attack is to recognize what triggered the attack. but when the memory of how it started has disappeared within a forgotten dream there are no clues to finding the trigger point. which leaves you with a deepened sense of the fear of the unknown...was it something in the dream it's self,or was it subliminal subconscious thoughts or memories and so on and so on.


plus knowing you only have half a brain to work with makes it twice as scary!   i mean really let's face it...it's not like half your brain is misplaced and one day you'll open the tool box  or be cleaning out the freezer and suddenly there it will be... and you'll be like i'v been lookin all over for that....huh,it's always the last place you look...


so you're not left with a lot of choices, you either jump ship in panic or smoke all your cigarettes and drink all your pepsi while you wait it out. all the while wishing you could (metaphorically) peel all your flesh from your bones and shed all of this doom and gloom in hopes of emerging from this horrific cocoon into something much more peaceful and pleasant.


only to find yourself again,back where you started. so you pick yourself up,dust yourself off and choose to recognize it for what it is! you think of others who are far worse off and you go on about your day knowing just how blessed you really are...

ppssttt...to the little man behind the curtain,i have a message for you...

your game is nearly done
you will no longer hold the pawn
for he will be out of your hands
you will have no power here 
your smoke and fire will be mere embers

left for you to walk upon



soon i will purge you and
cast you out forever 
locking the gates behind you
you
will no longer exist in my realm
for with you
i will purge your threats 
upon my life  
or of never seeing our son again
your nightmares
your heinous words
chanting over and over to me
that i was fat lazy unattractive
worthless useless and pathetic
that i had nothing worthwhile to say
and i was a waste of the air i breathe
and so many many more 
along with their odious echoes


i will purge every piece
of every promise 
you've broken to me
our son
your daughter
and return them to you now
with the full force 
of each of your screams
each of your lies
your physical abuse
your self hatred
projected upon us
gathered into one

may you now feel the pain
which you have inflicted 
upon us all for so many years
may you and only you 
now carry your burdens alone


and may you carry them
till the day you stand 
in judgement before God




       

HELP ARREST JOSEPH KONY BY 12/31/2012

WE MUST STOP JOSEPH KONY FROM MAKING CHILD SOLDIERS...
                                           AND MURDERING THOSE WHO WILL NOT COMPLY...
                                                                        AND OTHER CRIMES AGAINST CHILDREN...

HAVE YOU SEEN INVISIBLE CHILDREN'S KONY 2012 FILM?...  http://fb.me/Ubk0fTVO

New device removes stroke-causing blood clots better than standard treatment

New device removes stroke-causing blood clots better than standard treatment

Date: 02/03/2012 Contact: Amy Albin

An experimental device for removing blood clots in stroke patients dramatically outperformed the standard mechanical treatment, according to research presented by UCLA Stroke Center director Dr. Jeffrey L. Saver at the American Stroke Association's 2012 international conference in New Orleans on Feb. 3. The SOLITAIRE Flow Restoration Device is among an entirely new generation of devices designed to remove blood clots from blocked brain arteries in patients experiencing stroke. It has a self-expanding, stent-like design and, once inserted into a clot using a thin catheter tube, it compresses and traps the clot. The clot is then removed by withdrawing the device, thus reopening the blocked blood vessel. In the first U.S. clinical trial of SOLITAIRE, the device opened blocked vessels without causing symptomatic bleeding in or around the brain in 61 percent of patients. The standard Food and Drug Administration–approved mechanical device — a corkscrew-type clot remover called the MERCI Retriever — was effective in 24 percent of cases. The use of the new device also led to better survival three months after a stroke. There was a 17.2 percent mortality rate with the new device, compared with a 38.2 percent rate with the older one. "This new device heralds a new era in acute stroke care," said Saver, the study's lead author and a professor of neurology at the David Geffen School of Medicine at UCLA. "We are going from our first generation of clot-removing procedures, which were only moderately good in reopening target arteries, to now having a highly effective tool. This really is a game-changing result." About 87 percent of all strokes are caused by blood clots blocking a blood vessel supplying the brain. The stroke treatment that has received the most study is the FDA–approved clot-busting drug known as tissue plasminogen activator, but this drug must be given within four-and-a-half hours after the onset of stroke symptoms, and even more quickly in older patients. When clot-busting drugs cannot be used or are ineffective, the clot can sometimes be mechanically removed during, or beyond, the four-and-a-half–hour window. The current study, however, did not compare mechanical clot removal to drug treatment.  For the trial, called SOLITAIRE With the Intention for Thrombectomy (SWIFT), researchers randomly assigned 113 stroke patients at 18 hospitals to receive either SOLITAIRE or MERCI therapy within eight hours of stroke onset, between January 2010 and February 2011. The patients' average age was 67, and 68 percent were male. The time from the beginning of stroke symptoms to the start of the clot-retriever treatment averaged 5.1 hours. Forty percent of the patients had not improved with standard clot-busting medication prior to the study, while the remainder had not received it.  At the suggestion of a safety monitoring committee, the trial was ended nearly a year earlier than planned due to significantly better outcomes with the experimental device. Other statistically significant findings included: 2 percent of SOLITAIRE-treated patients had symptoms of bleeding in the brain, compared with 11 percent of MERCI patients. At the 90-day follow-up, overall adverse event rates, including bleeding in the brain, were similar for the two devices. 58 percent of SOLITAIRE-treated patients had good mental/motor functioning at 90 days, compared with 33 percent of MERCI patients. The SOLITARE device also opened more vessels when used as the first treatment approach, necessitating fewer subsequent attempts with other devices or drugs. "Nearly a decade ago, our UCLA Stroke Center team invented the first stroke retrieval device — the MERCI Retriever — and now we are pleased to have helped develop and successfully test a superior, next-generation clot removing device," said Dr. Reza Jahan, associate professor of radiology at UCLA and the study's principal neurointerventional investigator, who also led the pre-clinical studies. "It is exciting to have a highly effective new tool that can improve the outcomes for more stroke patients." Additional co-authors included Dr. Elad Levy, Dr. Tudor G. Jovin, Dr. Blaise Baxter, Dr. Raul Nogueira, Dr. Wayne Clark, Dr. Ronald Budzik, Dr. Osama O. Zaidat and the SWIFT trial investigators. Saver and Jahan received compensation from Covidien as scientific consultants for the design and conduct of the trial. Covidien, the device manufacturer, funded the study. Although not yet approved in the United States, SOLITAIRE is used in Europe. The UCLA Stroke Center, recognized as one of the world's leading centers for the management of cerebral vascular disease, treats simple and complex vascular disorders by incorporating recent developments in emergency medicine, stroke neurology, microneurosurgery, interventional neuroradiology, stereotactic radiology, neurointensive care, neuroanesthesiology and rehabilitation neurology. The program is unique in its ability to integrate clinical and research activities across multiple disciplines and departments. Founded in 1994, the UCLA Stroke Center is designated as a certified Primary Stroke Center by the national Joint Commission on Accreditation of Healthcare Organizations. For more news, visit the UCLA Newsroom and follow us on Twitter.

IF YOU CAN'T ACCEPT ME OR JUST DON'T LIKE ME......DON'T PRETEND YOU DO!!

you know who you are...and now so do i. i do not need FAKE  friends who blow smoke up my ass one minute and then ignore me for THE COOL CROWD the next. all i had to do was compare your time lines. i don't know what kind of SHITS and GRINS you gained from this,but I DO NOT DESERVE TO BE TREATED THAT WAY! NO ONE DOES! ~PRETENDING TO BE LAUGHING WITH ME WHEN OBVIOUSLY YOU WERE JUST LAUGHING AT ME THE WHOLE TIME. 


HATE TO TELL YOU THIS GIRLS BUT YOU ARE THE FOOLS,NOT ME!! BEING DISABLED IS NOT A LIFE CHOICE,BEING CRUEL IS!
i did chose NOT to block you,but to unfollow you! and yes i unfollowed many people who you follow  or who follow you.it will be up to them as to whether or not they continue to follow me and if they chose to interact with me.i do however ask that they only do so with honest intentions!
 i do realize some of them are your collateral damage and have done nothing wrong. however,i need all to  know i am not here to be popular,i am not here because i am starving for attention,affection,pitty or sympathy! 


i am here to socialize with positive people who accept themselves and others,who respect themselves and others,who are honest,caring,giving and appreciative of the same in others. 
i am here to raise awareness of #MOYAMOYADISEASE and to support and acknowledge many other causes as well. i am here to enjoy many of my personal INTERESTS i have had longer than my disabilities.
also, to interact at times with those who have achieved fame in varied forms,with talent,hard work and dedication. i would much rather share a joke,a smile,or a moment of shared interest with them,than to ever buy a tabloid filled with the same senseless, ignorant fodder i was faced with  last night.


i'm not saying i am perfect and never make a mistake or a bad choice,i'm being honest enough with myself and with you to say,I AM NOT PERFECT,I AM FLAWED AND THO I MAY SAY THE WRONG THING OR LAUGH AT THE WRONG TIME ,IT IS NEVER MY INTENTION TO INSULT OR MISTREAT ANYONE!!! AND I WOULD APPRECIATE THE SAME IN RETURN...

NEW REPORT FROM THE THE NATIONAL STOKE ASSOCIATION

  Moyamoya characteristics in the USA defined

By Eleanor McDermid

30 March 2012

Neurosurgery 2012; Advance online publication

MedWire News: The diagnosis of moyamoya disorder and associated ischemic stroke has increased over recent years in the USA, say researchers who characterized a large cohort of patients.

Using the US Nationwide Inpatient Sample, Robert Starke (University of Virginia, Charlottesville, USA) and colleagues identified 2280 patients with moyamoya disorder admitted to hospital during 2002-2008. This equated to a national annual admission rate of about 0.57 per 100,000 people.

The number of admissions for moyamoya disorder roughly doubled between 2002 and 2008. "This may be due to an increased incidence of the disease or increased awareness of the disease, improved imaging modalities, and an increase in the incidence of the diagnosis of moyamoya phenomena as the etiology behind strokes," the researchers write in Neurosurgery.

Ischemic stroke was more common than hemorrhagic stroke in adults (18.8 vs 11.0%) and children (16.4 vs 3.3%). The overall proportion of patients with diagnosed with ischemic stroke rose significantly over the study period, from less than 15% to more than 20%, whereas diagnosis of hemorrhagic stroke remained stable over time.

There were more women than men in the cohort, at 72% versus 28%, and the mean and median age at presentation was 32 years. This unimodal pattern remained when Starke et al divided the patients into Asian and non-Asian races. They note that the established pattern in Asian populations is of two peaks of presentation: the first during childhood and the second in adulthood.

The team adds that moyamoya was previously thought to affect primarily Asians, yet White people accounted for 49% of the current cohort, with Black people accounting for 24%, and Asian and Hispanic races for 11% each. This reflects US demographics, rather than being weighted towards Asians, say Starke et al.

Use of extracranial-to-intracranial bypass increased over the study period, especially among patients with ischemic stroke, yet in-hospital mortality after bypass was low. However, the team says that there "may be a reluctance to operate on more fragile patients" and that surgeons may wait for patients with acute symptoms to stabilize before operating, accounting for the low mortality rate.

MedWire (www.medwire-news.md) is an independent clinical news service provided by Springer Healthcare Limited. © Springer Healthcare Ltd; 2012

Free abstract

my post traumatic stress...

post traumatic stress and compartmentalizing.
compartmentalizing is the sorting,separating and organizing of the events of your life into compartments of the brain so that there is a place for everything and everything is in it's place. it;s a coping technique to help find and restore order. kind of like a closet full of memories categorized by intensity of joy or pain. however,post traumatic stress has triggers which cause a physical and emotional reaction sometimes equal to the original event/s. meaning a similar event,a smell,a sound,a likeness to a person or place from the original emotional and or physical injury can bring back the original actions reaction as anything from an uncomfortable feeling, all the way to reliving the original trauma. if 1 or more compartments is too full and is triggered by one or more of these senses,the pressure must escape. releasing some or all contents of said compartment/s.

some triggers happen right in front of your minds eye stopping you in your tracks and taking your breath away, sending you into a silent slow motion as moments and or years of your life fall to the ground or come straight at you sticking to you as if you are a caterpillar in their cocoon or a bound and gagged captive. sometimes erupting to incredible heights above you and while knowing the destruction has just begun and it's not until they start to descend that you learn what form they have taken in the atmosphere  ...fire,ice,written pages,living memories on shards of glass,a word or words, a face or faces,a voice or voices, 1 set of hands or many,(yes these are metaphors and thoughts not delusions or hallucinations) some quite as a mouse in the farthest recesses of your mind, only showing themselves as illusions in distorted dreams and nightmares,until your brain recognizes 1 or more and finds the trigger thus finally remembering where it fits into this puzzle of chaos and destruction that is your life.

recognizing and knowing as many of your triggers as you can, may help ease the reaction and over time as you gain more understanding of your triggers and your reactions the more space you can put between them the better. however it's important to remember that at anytime, without warning something  can happen in your life that can close that gap in an instant and you have to practice coping techniques even when you have no symptoms in an effort to retrain your brain and body to respond to a new event as a single event thus dismantling the triggers to previous traumas so as to better understand the reality of the level of a new trauma.

ok,it's 3am and i awoke from a strange dream with all of this swirling inside me about 11:30 pm... i can no longer tell if i'm making any kind of sense right now due to the exhaustion of my brain and the need for more sleep. even so i am posting this now,though i may change it another day.

THANK YOU FOR YOUR TIME AND UNDERSTANDING!!! <3

to president BARACK OBAMA this is just 1 life affected by 1 rare disease

A rare disease in the smallest of patients

By Madison Park, CNN

updated 7:45 AM EDT, Wed March 14, 2012

Brantley Jacobs has been diagnosed with Klippel-Trenaunay syndrome.

STORY HIGHLIGHTS

• Brantley was born with 25% of his birth weight coming from a malformed leg
• Young parents are usually the people who have to deal with rare diseases
• In cases like these, parents often feel frustrated and helpless

(CNN) -- Haleigh Jacobs and her husband, David, have spent the last two months in the hospital, hovering over their 8-pound newborn, Brantley. He has yet to spend a day outside the incubator, smell fresh air or go home to meet his siblings.

Brantley's right leg juts out like a reddish brown lump of flesh that is thicker than his torso. His toes, indistinguishable from each other, look like dimples. The leg is studded with damaged blood vessels, veins and capillaries that look like raisins. Another lump protrudes from his abdomen.

"It is frustrating," his mother said. "For one, being a parent, you feel helpless, and then, you've got a baby that's hurting."

But this is an improvement from what Brantley has endured. He had a rectal tear that spontaneously gushed blood and fluids. That has been healing.

For families dealing with rare diseases, the road to a diagnosis is a long, winding one, riddled with confusion, complications and expenses. Although pop culture has left an impression that there is a genius doctor somewhere, like the fictional Dr. House who can identify and cure rare diseases, the reality is far different.

After the diagnosis, the lack of answers or effective treatment can be completely unsatisfying.

"Two-thirds of the people with rare diseases are children, because these are genetic diseases," said Mary Dunkle, the vice president for communications at the National Organization for Rare Disorders. "It's very often young parents with a new baby and they're very, very worried and very much in unfamiliar territory."

On December 28, the Jacobses, who are from Blanchard,Oklahoma, welcomed their second son. Brantley Lane Jacobs was born eight weeks early.

"I didn't get to see him," Haleigh Jacobs said, about after the birth. "But I saw his leg. It was hard not to see his leg. ... I started bawling."

Brantley weighed 4 pounds, 3 ounces. His leg weighed 1 pound.

Haleigh Jacobs cuddles her 2-month-old son, Brantley, who has severe medical problems.

The leg had puffed up because of a buildup of blood vessels, called hermangioma. Theskin of his legs had stretched thin to encase the increasing swelling and had become fragile like a burn patient's. The leg required constant wrapping and moisturizing to prevent chapping and bleeding.

Jacobs had learned before giving birth there was something unusual about her third baby. Twenty-one weeks into her pregnancy, she and her husband went to get an ultrasound to find out whether the baby was a boy or a girl. The specialists noticed an unusual lump on the fetus.

When he was delivered, Brantley's physical state was perplexing.

The doctors were baffled, Jacobs said. The swelling on Brantley's leg kept growing. Every time Brantley was moved or his leg touched, he would wince or scream.

The hole near his rectum would bleed whenever someone tried to wipe him during a diaper change.

Brantley has never been breastfed, because he's too fragile. His mother gingerly feeds him with a bottle, worried that any jerks or sudden movements could bother his skin.

His doctors in Oklahoma called specialists and sent images and test results to other pediatricians and specialists around the country. Maybe, one of the doctor speculated, Brantley had Klippel-Trenaunay syndrome, a rare childhood genetic disease.

Another doctor suggested it could be CLOVES Syndrome, another rare vascular disease that causes malformations and has only been found in 80 people. Another doctor thought it could be a combination of both diseases, possibly a new condition.

There are almost 7,000 rare diseases in the United States, according to the National Organization for Rare Disorders.

The swelling in Brantley's leg increased after birth.

These tend to be complex diseases," said Dunkle. "It's really not in any way bashing the professional medical community. People have a hard time getting a diagnosis, it's obviously distressing and difficult for families and patients."

The parents wanted to find someone who could help their son. Haleigh Jacobs e-mailed doctors and worked with doctors in Oklahoma to get referrals to other hospitals.

In mid-February, Brantley was referred to Arkansas Children's Hospital in Little Rock. Jacobs took a leave from her job as a dispatcher for the police department and so did her husband, who works for a company that locates and marks underground gas and electric lines.

Families are often encouraged to go to teaching hospitals on the theory that they will have a better chance there of interacting with medical professionals who may have seen something similar to their situations.

When Brantley arrived in Arkansas, the diagnosis was Klippel-Trenaunay syndrome, a rare disorder that appears in one in 100,000 children, said Dr. Gresham Richter, associate professor at the University of Arkansas for medical sciences.

Richter sees about 30 cases a year at the hospital. The way Brantley presented with the disease was so unusual Richter said he has only seen it in two other patients.

Some Klippel-Trenaunay patients have internal bleeding because of the malformation of blood vessels in organs such as the liver, heart, lungs and rectum. They usually have port wine marks on the skin and the growth of masses of blood vessels and varicose veins.

"It's usually a cutaneous birthmark that is red and inflamed. It becomes bigger and bigger," Richter said. "It usually does not appear at birth like Brantley's does. It's a rare form of KTS, and the one that is most dangerous because it grows very quickly."

The swelling in Brantley's leg is caused by accumulating lymphatic fluids collecting in his leg. The muscles, tendons and bones in Brantley's right leg are being infiltrated, Richter said.

There is no cure for the disease. This happens often in orphan and rare diseases.

"The worst thing is to get a diagnosis and find out there's no treatment, no support group," Dunkle said. Sometimes that's how patient advocacy groups are formed, she added.

Although the appearance of Klippel-Trenaunay syndrome is shocking, Richter said patients can have a normal life expectancy.

Brantley will need laser surgery continually to remove the damaged blood vessels in his leg. The surgery does not address the underlying cause of the disease, which is believed to be genetic.

His leg will have to be amputated at some point, Richter said.

Brantley's parents are seeking a second opinion and another hospital as they contemplate their next step. They brought Brantley home for the first time this week. But the homecoming has been overshadowed by a looming medical decision.

"We have been going back and forth," she said. "Do we tell them to take the leg? Is he going to be mad at us when he gets older?"

Her husband added that when they first learned of the malformation during pregnancy, they were given two options: abort Brantley or give birth and see what happens.

"That was an easy decision on our part," he said. "This whole leg amputation, it has been left up to us. That's a tough decision because the decisions we have to make have nothing to do with us. It's for the betterment of him. Do we leave the leg and hope someone can fix it three or four years down the line?"