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Jonathan

Jonathan. Cerebral Folate Deficiency (CFD) is Part of Me, Not Who I Am!. What is CFD?. Very little folinic acid is present in the brain (cerebrum) compared to the rest of the body Folic acid is too big to get into the brain from the body

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Jonathan

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  1. Jonathan Cerebral Folate Deficiency (CFD) is Part of Me, Not Who I Am!

  2. What is CFD? • Very little folinic acid is present in the brain (cerebrum) compared to the rest of the body • Folic acid is too big to get into the brain from the body • Why? A blood-brain barrier in the carotid arteries (in your neck) • Happens very early in life (about 4 months or so) • The brain breaks down because of this deficiency or lack of folinic acid • The brain deteriorates without it and shows up as developmental delays, hypotonia (muscles too relaxed), hypertonia (muscles too tense), spasticity, uncoordinated muscle movements • It can get worse if not treated

  3. Who is Jonathan? You all may know this already, but … • He’s just another kid really, just like you • He wants to do fun things and learn the same as you all • He likes sports, books, games and other stuff • He thinks he’s smart, just like you guys (think you’re smart) He has challenges you’ve likely noticed such as … • He needs help eating and drinking • He needs help taking notes and turning pages in a book • Others, perhaps?

  4. Why Do I Care? • He can hear you clearly • Speak normally, please • He may not speak clearly enough • You’re challenged to communicate more patiently • He’s easier to knock off his feet • But he can still play, just watch the rough stuff “It's not whether you get knocked down, it's whether you get up.” Vince Lombardi

  5. For Your Further Interest • http://www.rightdiagnosis.com/n/neurodegeneration_due_to_cerebral_folate_transport_deficiency/intro.htm • http://www.biopku.org/pdf/blau_hansen.pdf • http://virtualmdpractice.com/CerebralFolateDeficiency.html • http://www.mthfrease.com/mthfr/2013/05/01/cerebral-folate-deficiency/ • http://www.metametrixinstitute.org/post/2012/04/05/Measuring-Unmetabolized-Folic-Acid-%28UMFA%29-in-Suspected-Cerebral-Folate-Deficiency-%28CFD%29.aspx • http://dsdaytoday.blogspot.com/2013/03/cerebral-folate-deficiency-in-down.html

  6. The End Any Questions?

  7. For Your Further Interest • http://www.rightdiagnosis.com/n/neurodegeneration_due_to_cerebral_folate_transport_deficiency/intro.htm • http://www.biopku.org/pdf/blau_hansen.pdf • http://www.mthfrease.com/mthfr/2013/05/01/cerebral-folate-deficiency/ • Online Mendelian Inheritance in Man: NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY • NIH: Clinical recognition and aspects of the cerebral folate deficiency syndromes • http://www.bioportfolio.com/resources/pmarticle/22943/Cerebral-Folate-Deficiency.html • http://www.metametrixinstitute.org/post/2012/04/05/Measuring-Unmetabolized-Folic-Acid-%28UMFA%29-in-Suspected-Cerebral-Folate-Deficiency-%28CFD%29.aspx

  8. http://www.neurology.org/content/64/6/1088.abstract • http://childrens.memorialhermann.org/patients-families/patient-stories/

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