Discussions By Condition: Medical Stories

Need Your Help With My Sons Rare But Unique Diagnosis'

Posted In: Medical Stories 0 Replies
  • Posted By: Angels031977
  • March 6, 2008
  • 03:54 PM

Hello My Name Is Melissa & I am the mother of a beauiful 6 year old son who has recently been doagnosed with quite a few medical diagnosis and i need your help in finding some answers to some of these diagnosis I am posting many of these diagnosis from his myspace blog as It is so much info Its is just easier for me to copy and paste then retype I hope someone out there can help me ...

KAIJA HAS A COUPLE OF NEW DIAGNOSIS TO ADD TO HIS NOW LONG LIST OF DIAGNOSIS SO HERE GOES MANY ARE REPEATS AND WE HAVE SOME NEW ONES TO ADD TO THE LIST!!!

MICROCEPHALY
SHORT PALPEBRAL FISSURES
BRACHIOCEPHALY
THIN UPPER LIP
MICROSTOMIA
INVERTED NIPPLES
SHORT NECK
MICROGNATHIA
ECZEMA
PROGEROID APPERANCE
THIS IS WHAT THE GENETIST HAS DECIDED TO DO IN HIS NEXT VISIT
HE WANTS DNA TESTING FOR PROGERIA
AND FISH 9P-

THIS IS KAIJAS CHROMSOME DIAGNOSIS
IT IS A DELETION IN THE SUBTELOMERIC REGION OF CHROMSOME 1Q I AM STILL RESEARCHING EVERYTHING THAT WAS DISCUSSED TODAY AND WILL FILL YOU IN AS I LEARN
ALSO IF ANYONE HAS ANY INFORMATION ON DUBOWITZ SYNDROME THAT WOULD BE HELPFUL AS THEY BELIEVE KAIJA MAY POSSIBLY HAVE THIS SYNDROME BUT THERE IS NO TESTING AVAILABLE AT THIS TIME BUT KAIJA SHOWS SIGNS OF THIS PARTICULAR SYNDROME




This Last Blog I am Listing Is a lil bit of Kaija and his Medical History Starting At birth...

WE ARE NOT SURE IF ANY SPECIFIC GENETIC DISORDER OR DISEASE IS DIRECTLY LINKED TO KAIJA AS THEY ARE STILL DOING TESTING ON HIM ... HOWEVER THESE ARE JUST A FEW THINGS I CAN TELL YOU ABOUT KAIJA...
HIS APPEARANCE:
HE HAS THE LOOK OF AN OLDER PERSON ALMOST LIKE AN OLD MAN.. HE ALSO HAS A DOWNSY LOOK BUT HAS TESTED NEGATIVE ON ALL THOSE TESTS... HE HAS THE DEEP SET EYES AND DOWN SLANTED EYES AS WELL AS THE DOWNSY FACE...
HIS MUSCLES:
HE HAS HYPOTONIA (LOW MUSCLE TONE) A SEVERE CASE OF THIS... HE ALSO HAS LONG LANKY LEGS, ARMS, AND FINGERS.. HIS FINGERS ARE ALSO MIS FORMED IN A WEIRD WAY ... AS WELL AS HIS TOES..
HIS HEAD:
HIS HEAD IS ODDLY SHAPED IT IS FLAT IN THE BACK AND VERY ROUND ON ITS SIDES .. BUT YET HE HAS AN EXTREMELY SMALL HEAD.
HIS BRAIN:
KAIJA IS MENTALLY REATRDED, HAS AGGRESSION PROBLEMS, LOSES HIS HAIR EASILY ...HE ALSO REGRESSES WHEN HE LEARNS SOMETHING NEW HIS BRAIN DOESNT EXACTLY KNOW HOW TO COMPREHEND IT SO IT LOSES ALL THE SAVED INFO ... ITS ALMOST LIKE A 6 YEAR OLD WITH ALZHEIMERS.....
KAIJAS SKIN:
HE HAS VERY LIGHT SENSITIVE SKIN HE BURNS WITHIN SECONDS OF BEING IN THE SUN EVEN WITH HEAVY DUTY SUNBLOCK ON...
HIS EYES:
HE ALREADY HAS TO WEAR THICK AND WHEN I SAY THICK I MEAN THICK GLASSES... HE CRIES WHEN THE SUN IS OUT BECAUSE IT HURTS HIS EYES... HE WEARS SUNGLASSES AND THE LIGHT STILL BOTHERS HIM...
HIS BEHAVIOUR:
WELL THIS IS NOT A GOOD ONE HE HAS ALOT OF AGGRESSION PROBLEMS DUE TO THE FACT THAT HE HIS NOT ABLE TO EXPRESS HIMSELF AS WE ARE ...HE WILL HURT HIMSELF OR THROW THINGS WHEN HE BECOMES FRUSTRATED...
HIS SPEECH
HE SUFFERS FROM A SEVERE SPEECH DELAY HE RECIEVES SPEECH THERAPY 4 TIMES A WEEK IN A GROUP SETTING WHICH SEEMS TO BE HELPING HIM QUITE A BIT.....
HIS DEVELPOMENT:
HE IS SEVERELY DEVELOPMENTALLY DELAYED HE DIDNT WALK TILL HE WAS 3 YEARS OLD AND HE WASNT POTTY TRAINED TILL HE 5 YEARS OLD ...
EVERYTHING ELSE:
KAIJA SUFFERS FROM SEIZURES, A CHROMSONAL DEFECT AND AUTISM... PLUS MANY LITTLE BUT STILL BIG THINGS THAT AFFECT HIM ON A DAILY BASIS' KAIJA HAS BEEN IN AND OUT OF HOSPITALS ALL HIS LIFE HE IS AFIGHTER WHO WILL NOT GIVE UP EVEN WHEN THE DOCTORS DO... IN 2003 HE SUFFERED A SEVERE SEIZURE THAT LASTED 1 AND 1/2 HOURS NOT COUNTING THE TIME WE HAD CALLED 911... THE DOCTORS TRIED EVERYTHING TO STOP THIS SEIZURE AND NOTHING WORKED THEY TOLD EM THEN IF HE HAD ANOTHER SEIZURE THIS SEVERE HE WOULD NOT LIVE... WELL SHORTLY AFTER KAIJAS SEIZURE HE BECAME DEATHLY ILL HE SPENT A MONTH IN PICU AT A CHILDRENS HOSPITAL IN TEXAS WHERE THEY DID BONE MARROW BIOPOSY ON HIM FOR LEUKIMIA BECAUSE HE HAD DEVELOPED PETEKI HE WAS 106.7 AND ABOVE FEVERS THE LOWEST THEY COULD GET THEM TO COME DOWN WAS 101.9 AND THAT ONLY LAST ABOUT 1 HOUR BEFORE HIS FEVER WOULD SHOOT RIGHT BACK UP AND THE NURSES WERE ALTERNATING TYLENOL AND IBUPROFEN BACK AND FORTH EVERY HOUR TO KEEP HIS FEVER DOWN FOR A BIT... IN THE LONG RUN KAIJA WAS PUT ON OXYGEN BECAUSE HE COULDNT KEEP HIS O2 LEVEL UP PAST 85% WITHOUT THE OXYGEN AND ALL THE DOCS COULD TELL ME WAS KAIJA HAD AN UNKNOWN VIRUS THAT WAS KAIJAS HISTORY EVERYTIME HE BACAME ILL THE ONLY DIAGNOSIS THE DOCS COULD GIVE ME WAS IT WAS AN UNKNOWN VIRUS.... AS IN OTHER WORDS AS ONE DOC TOLD ME IS THEY HAD NO IDEA WHAT WAS CAUSING KAIJA TO BECOME SO ILL.... KAIJA IS A FIGHTER AND HE IS VERY SPECIAL LIL BOY WHO LOVES MEETING NEW PEOPLE , MUSIC AND FOOD.... HE TRIES HIS HARDEST TO MAKE VERYONE HAPPY AND WANTS SO BAD TO LEARN BUT SOMETIMES HAS A PROBLEM WITH THAT AS HE REGRESSES AFTER LEARNING NEW THINGS ....BUT I WOULD GIVE HIM AN A+ ANY DAY OF THE WEEK FOR HIS HARD WORK ....


... AS WE HAVE BEEN TOLD KAIJA IS A MYSTERY KID IN MEDICAL FIELD NO DOCTOR OR SPECIALIST HAS EVER SEEN ANYTHING LIKE KAIJA BEFORE ..AS ONE GENETIST PUT IT TO ME KAIJA HAS THE FEATURES OF ABOUT 6 DIFFERENT SYNDROMES IN HIS ONE LIL BODY... NOW GETTING TO THE CAUSE IS THE CHALLENGE



We hope someone has heard of this we are still seeing the genetist and the neurologist as well as a developmental doctor & so many other specialists there are just to many to list... if any one can help especially with the testing for progeria we would greatly appreciate it...

thank you so much
melissa

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