This is my friend’s Chad Farquharson and Wayne Mcgill Son Grayson. I am sharing Grayson’s’ Story in honour of #rarediseaseday 2016.
Grayson again like me, Has a #Raredisease. He lives with Maple Syrup Urine Disease. Also Known as #MSUD
Like #PKU , #MSUD is a rare genetic and metabolic Disease. Not nearly enough is known about #MSUD nor is there enough research and support.
MSUD is even more rare and sometimes fatal compared to PKU. MSUD statistics show that it effects 1 in 185, 000 people.
Maple syrup urine disease (MSUD) is a rare genetic disorder characterized by deficiency of certain enzymes (branched-chain alpha-keto acid dehydrogenase complex) required to breakdown (metabolize) specific amino acids in the body. Because these amino acids are not metabolized, they, along with their various byproducts, abnormally accumulate in the cells and fluids of the body. Such accumulation can cause a variety of symptoms including lethargy, irritability, poor feeding, abnormal movements and a characteristic odor of maple syrup in the earwax (cerumen), sweat and urine of affected individuals. In addition, if untreated various neurological complications including seizures, coma and brain damage may occur. Failure to promptly detect and treat MSUD can lead to life-threatening complications. However, the disorder can be successfully managed through a specialized diet. Even with treatment affected individuals remain at risk for developing episodes of acute illness (metabolic crisis) often triggered by infection, injury, failure to eat (fasting) or psychological stress. During these episodes there is a rapid, sudden spike in amino acid levels necessitating immediate medical intervention.
To learn more about #MSUD please watch Grayson’s story below at the attached youtube link or visit one of the website links I have provided.
Grayson’s Story.
Other links:
https://www.rarediseasefoundation.org/
A father’s love,
a post written by one of Grayson’s dad on instagram for Rare disease day :
Today is Rare Disease Day. On this day I go through mixed emotions. I look at my son and all I see is the love of my life. My heart my soul. It’s hard to fathom sometimes how fragile his life really is and how dangerous every day is for him. I sincerely believe only parents who have children that walk such fine lines understand the feelings, emotions and the fear that Chad and I do. While all parents have fears for their children, ours can be so much more intense, always present and heavy. But today when I dropped him off at school, I took one look at him before I left and just reminded myself he is not the disease. He is my son… Grayson. He is my joy and I’m blessed to have him. #youareloved#rarediseaseday2016
— with Grayson McGill andChad Farquharson
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