Help Josiah Get A Medical Van!

Welcome to Josiah's Journey! We are blessed to watch this amazing little boy grow, and change in everyway! Thank you for choosing to be a part of it! Josiah is 9 years old, he has been through numerous procedures, and misdiagnosis up to this point. On Friday June 9 2017, we received a clear diagnosis via his Genetics Dr at Loma Linda University Childrens Hospital. Josiah has been diagnosed with Mucopolysacchardosis 3 (MPS 3A). This is a rare genetic disorder that effects many body systems and may lead to changes in mental function (e.g., behavioral problems, and a deterioration in mental development) and damage of different body organs (e.g., the heart). MPS 3 is also known as San Filippo syndrome. It is cause by a defect in one of the genes that instruct the body to make one of four different enzymes. The enzymes that are needed to break down long sugar molecules. If these molecules are not broken down, they build up in the cells, eventually leading to damage to the cells, tissues, and organs. Most families of a child with MPS 3 have no family history of any genetic problem, MPS 3 seems to show up suddenly.
MPS 3 affects children differently, and it's progress will be faster in some than in others. Babies usually show no signs of the disease, but symptoms begin to show between 2-6 years of age. Change will usually be very gradual, and, therefore , easier to adjust to. Diagnosis may be delayed, as some children do not have abnormal features, and their symptoms are very nonspecific with little evidence to suggest a MPS disease. As the disease progresses, children develop extreme activity, restlessness, and often difficult behavior. Some children sleep very little at night. Many will get into everything. Sadly, language and understanding will gradually be lost. Some children never become toilet trained, and those who do often loose the ability all together. Over time, children with MPS 3 begin to slow down. They become more unsteady on there feet, tending to fall frequently as they walk or run. Eventually they loose the ability to walk. They may or may not be linked to seizures.
Studies have shown that children with MPS 3A typically live to be 15 years of age. Josiah is now 9! As his family we have chosen to share his journey with you, because he is an incredible child. He is happy 24/7 and will surly bring a smile to your face! Even on your worst day, he will make you feel better. In creating this page we are simply hoping to answer any questions you may have, raise the funds our family will need to provide Josiah with any and everything to ensure he has a comfortable life, and use this as a therapeutic tool for our family. We have hope that things can change, we have faith in the Lord, and we are surly blessed to have this young man in our lives. We hope you are to!!!
https://www.facebook.com/JosiahsMPS3Journey/ 


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    • $15 
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  • Susan Gochanour  
    • $100 
    • 39 mos
  • Anonymous 
    • $20 
    • 41 mos
  • Anonymous 
    • $26 
    • 42 mos
  • Kenneth & Sarah Brown 
    • $100 
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See all

Organizer

Heather NovahJosiah Bubba Stephens 
Organizer
Barstow, CA
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