If no match is found "The disease will progress a lot faster, I will continue to suffer and my life will be much shorter then I ever intended it to be."
- Christina di Corte, 2012
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a rare, inherited, multisystem disorder that affects the gastrointestinal (digestive) system and neurologic (nervous system) function. The main characteristic of MNBIE is the body's inability to move food through the body (gastrointestinal tract) or to absorb nutrients from food causing extreme weight loss and wasting of the muscles. Cristina can no longer eat solid food or drink liquids due to her body's inability to move them through her digestive tract or absorb nutrients from them.
The order in which the symptoms progress and their severity effects each patient differently.
Symptoms of MINGIE:
- Dangerous weight loss
- Trouble swallowing
- Intestinal Blockage
- Loss of Sensation (limbs)
- Loss of Hearing
- Loss of Vision
For Cristina the first symptoms appeared in 2007 when she experienced unexplainable nausea and vomiting. Because MNGIE is so rare It took doctors four years to confirm the diagnosis. Among other conditions they suspected and treated Cristina for were eating disorders, irritable bowel syndrome and celiac disease. A year ago she weighed just 66 pounds. In November 2011, a genetic test finally confirmed that she was suffering from MNGIE. Since receiving a correct diagnosis, and the addition of the central line catheter to giver her body nutrients through TPN, Cristina has been able to gain back some weight and now weighs 85 pounds. Day to day Cristina struggles with abdominal pain, weakness, nausea, and vomiting constantly through out the day. Most recently it was discovered she is beginning to lose sensation in one foot.
So what exactly is MNGIE?
These articles (Blood Cell Infusions Helpful in MNGIE and Stem Cell Transplant Effective for Mngie) explain the reasons why bone marrow transplants can help patients with MNGIE. In simple terms:
- MNGIE is caused by a defective gene which in turn leads to deficiency of an enzyme called thymidine phosphorylase (TP)
- Insufficient TP causes an accumulation of 2 chemicals in the blood, thymidine and deoxyuridine
- The build up of thymidine and deoxyuridine is believed to be toxic to mitochondria. The Mitochondria is the part of each cell in the human body that powers the cell to be able to do its job so damaging the mitochondria results in various health problems that become progressively worse the longer and more permanently the mitochondria are damaged.
- When the mitochondria is damaged it typically causes cells to perform inefficiently causing the wasting of muscle tissue and various parts of the body being unable to perform their functions such as the digestive tract's inability to move and digest food.
- Introducing healthy stem cells can help the patient's body to create a more complete enzyme that is able to process and normalize the toxic levels of thymidine and deoxyuridine.
- This can provide patients with relief from pain and stop the progression of symptoms as the mitochondria are no longer being damaged.
Because MNGIE effects each person differently there are no hard facts about the long term prognosis of this disease except to say that most people who inherit the disease will not live a normal life span. In addition, their quality of life will diminish as the disease progresses.
Cristina's doctors are already concerned about the progression of her disease and have recommended a Bone Marrow/Stem Cell transplant as the treatment they think will be most successful in halting, not curing, the MNGIE. They also believe a successful transplant will extend her life by decades.
To learn more about MINGIE:
Mitochondrial Neurogastrointestinal Encephalopathy Disease