December 14, 2012

Misdiagnosed (sort of)

  When I was told that Sadie had Pontocerebellar Hypoplasia I started my research so I could understand what exactly it was that Sadie was facing.  As I read it, it explained and matched Sadie's symptoms, but not everything was addressed.  There was still a lot about her that wasn't explained.  I kept asking questions to all the Dr's I came across, even random ones that had nothing to do with her hoping that just maybe they have come across some of the weird symptoms on some other patients.  No, such luck.  I never gave up though. Hoping and praying that some day I will come across someone who knows something about Sadie's symptoms or an article that describes Sadie.  It finally happened!
  At the beginning of November I was looking/googling toys for kids with special needs and on the side of the page a random article popped up about abnormalities of the hindbrain.  "What is that?" I think.  I click on it and low and behold an article about a the pons, cerebellum, cranial nerves, and other abnormal things.  It matched Sadie to a tee.  "What, could I really have found Sadie's real diagnoses?"  I read all the symptoms to my husband, he agrees with me, it matches Sadie.  This is too weird.
  Where do I go from here?  I don't have a neurologist for her yet (since I fired her last one).  So my search begins, again.  I came across a research study that the University of Washington is conducting on abnormalities of the hindbrain.  I contact them and they told me to send her MRI.  So I do.  Tuesday I received an email from Uof W stating that yes, they do agree that Sadie has this particular brain abnormality. I was a little shocked.  I was actually right.  My stubbornness to believe these Dr's finally paid off.  I wasn't wasting my time searching for something that may not exist.
  So what is her new diagnoses?  It is called pontine tegmental cap dysplasia (PTCD).  It is an extremely rare disorder.  In fact their is only about 40 children in the world with this diagnoses. Crazy!!!
  What exactly is PTCD?  "Pontine tegmental cap dysplasia (PTCD) is a non-progressive disorder characterized by significant developmental delay, cranial nerve dysfunction, and malformation of the hindbrain. Individuals with PTCD may have a collection of medical and developmental problems including: hearing impairment, ataxia, language and speech disorders, feeding and swallowing difficulties, heart malformations and facial paralysis. The cause of this condition is unknown.The severity of the medical problems varies among patients. Some patients have a good long-term prognosis with normal intelligence and partial speech. To date, the condition has been identified in less than 20 patients."  (This was taken from National Institute of Health, Office of Rare Disease Research. This was written in April 2012.) 
  Since it is a fairly new diagnoses, not a lot is known.  My baby girl is even "rarer" then we thought and is an "extremely limited edition" so I have decided to enroll her in the research project that Uof W is conducting.  It's kinda cool knowing that my baby is going to help "save, cure, discover new things" for the future babies of the world.  I've said it before and I'll say it again, she is AMAZING!!  We are so lucky and blessed.

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