|Cristina has MNGIE|
A few days ago I received an email from her father in Canada who stumbled upon my Marrow Drives site and messaged me with a plea to help him, help his sick daughter. Cristina has a disease so rare it took doctors four years to figure out what she was suffering from. It's called Mitochondrial Neurogastrointestinal Encephalopathy or MNGIE for short.
This is a complicated disease with a big name but what it does is actually quite straightforward. Researchers believe it is a defective enzyme that regulates certain chemicals in the body that allows two chemicals, in particular, to reach toxic levels. When they do they attack the mitochondria (the power generators in each cell in the human body) which means the cells can no longer function properly and problems (many serious, painful and ultimately life threatening) occur.
Symptoms include the inability to digest food, severe gastric pain, trouble swallowing, vomiting, diarrhea, loss of weight, intestinal blockage, nausea, loss of sensation (limbs), loss of hearing, loss of vision, and exhaustion.
A year ago, despite doctor's best efforts to figure out what was wrong with her, Cristina's weight had plummeted to an alarming 66 pounds. Since finally receiving a correct diagnosis in Nov. 2011 and being put on intravenous feeding (she can no longer eat solid food or drink liquids) her weight has risen to 85 pounds.
Because this is a progressive disease the sooner a match can be found the better Cristina's chances are of not only surviving this disease but being able to do so with a descent quality of life. If you have not joined your marrow donor registry please consider doing so to help Cristina.
In Canada visit www.OneMatch.ca
In Italy visit www.ibmdr.galliera.it
Please visit www.HelpingCristina.org and share the link.
Cristina's new website is full of information about the disease MNGIE, how registering with a donor program works, FAQ's about the marrow donation process, it explains why ethnicity matters when it comes to making marrow matches and has links to flyers, her Facebook page and Twitter accounts.