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We didn't get FDA approval for the study.  They are now going to individually do the Compassionate USE act on Travis and the others who were waiting.  We will be getting new info tomorrow on how to proceed.  Travis went to Disneyworld last week for his "Make a Wish" Wish and had a lot of fun.  When I'm up for it, I will tell all details.  Here's more pics of his Make a wish Party they had for him before he left for Disneyworld.  

IF YOU ARE INTERESTED IN HELPING US BY CONTACTING ME VIA THE "CONTACT AUTHOR" LINK ON THE RIGHT OF THIS STORY I WOULD LIKE TO ADD YOUR NAME TO OUR SIGNATURE LIST THAT WE ARE TRYING TO GET 5000 SIGNATURES TO TURN INTO THE FDA TO SHOW SUPPORT FOR THE APPROVAL OF THE DEFERIPRONE USE AND STUDY.  WE NEED TO DO THIS ASAP AS TIME IS NOT ON OUR SIDE.  MY FAMILY AND I TRULY WOULD APPRECIATE IT.  

THANK YOU.

A little over a year ago my brother Travis whom just turned twelve (12) in March of this year, was walking and camping and pretty much his normal but not so normal self.  But then all of a sudden this symptom called “dystonia” started seeming to take over and set into his body. Travis began to barely be able to walk and stand up straight, etc. then he could only sit in a wheelchair and his hands still functioned ok. Through many tests and doctor visits all over California, he was diagnosed with PKAN (pantothenate kinase-associated neurodegeneration). This disease is estimated to effect between 1-3/1,000,000 individuals.

Classic PKAN develops in the first ten years of life (average age for developing symptoms is 3 1/2 years). These children may initially be perceived as clumsy and later develop more noticeable problems with walking. Eventually, falling becomes a frequent feature. Most lose the ability to move/walk independently between 10-15 years after the beginning of symptoms.  By this time many individuals will also have limited speech and may have enough trouble with chewing and swallowing that a feeding tube becomes necessary.  Approximately 2/3 of individuals with PKAN develop retinal degeneration. Premature death usually occurs secondary to dystonia and impaired swallowing, which can lead to poor nutrition or aspiration pneumonia.

Now, Travis  pretty much lies on the floor on a bean bag, or mattress,  can't use his hands, his hands are curled, his legs are bent at the knee where when he lays his feet actually come all the way to his rump. His ankles are horribly twisted and swollen.  His speech is very slurred and we can barely now understand him. He only eats creamy things now and things that will melt but we have to feed it to him. He has lost a lot of weight since this all started.   He had Deep Brain Stimulation surgery on August 14 of 2008 in San Francisco, CA.  He basically stayed at the hospital for about 3 weeks.  We were hoping this would enable him to sit again in his wheelchair and eat himself and grasp things, etc... But it didn’t.  He actually got worse. He recently went in to Oakland’s Children’s Hospital and had the Baclofen Pump put in to administer pain meds directly into his spine to relieve some of the rigidity and stiffness. In order to put the baclofen pump in they had to remove one of the battery packs on the side of his stomach from the previous surgery. So far not much progress but we are hopeful. 

We are now also eagerly waiting for FDA Approval for the drug deferiprone. Deferiprone will remove iron from the body. It can cross the blood-brain barrier and is suspected to be able to remove excess iron from the brain.  If approved Travis will be able start on a trial study with a doctor at Oakland Children's Hospital . We are praying and full of hope that this will be in fact an important and possibly lifesaving study that may offer something to Travis and other patients who have been plagued with this devastating disease.  We truly hope the FDA/NIH will understand that we need their approval so that we can get Travis and others started quickly in treatment and possibly give them some form of normal life back. This study may be the only hope out there to possibly rescue and preserve our precious loved ones livelihood and give him and others even a little bit of meaningful and somewhat enjoyable existence.