The story of Melissa
Our 3-year-old daughter Eliana received the diagnosis not long ago that made us sink into the ground beneath our feet…
Because she would never be the same again, at least not in energy! That cheerful playful bird, jump into the field! (Fortunately she still has those at very good moments now and then!!)❤️🩹
Pearson’s syndrome, 1 in 100 million have this extremely rare disease in which there is a problem with the body’s mitochondria or energy factory.
What symptoms Eliana has now;
Responsible for making digestive proteins that break down the food eaten. as a result, she has difficulty absorbing nutrients from her diet. It also produces the hormones insulin and glucagon that control sugar levels in the blood. Because it does not function properly, this leads to high fats in the liver. This causes frequent diarrhea, abdominal pain, …
Bone marrow, blood cells & platelets:
The bone marrow produces too few blood cells. Too few red blood cells causes anemia that can lead to various complaints in the patient, such as weakness, fatigue and pale skin. The lack of white blood cells causes frequent infections such as a cold that they find difficult to fight.
Having too few platelets easily leads to bruising and slower blood clotting in the event of an injury, so bleeding continues for longer.
Due to the accumulation of lactic acid (lactate) in the blood, she suffers from acidification in her muscles. for example when we go walking, cycling, swimming, … such acidification..
Liver, stomach & intestines:
These symptoms are more followed by the above symptoms.
she had liver failure when she was brought in, which fortunately had improved spectacularly within 24 hours, so that the liver values were stable again.
Stomach & intestines cannot tolerate solid food, this causes nausea and vomiting, for which she now receives tube feeding, which there is a chance that she will keep it forever.
Trips to the zoo, shop, … from now on they can no longer do without a cart, buggy, handcart, … because she is tired too quickly. When she is too tired she will weaken which will make her expend more good energy & so she is more sensitive to new symptoms…
Most die in childhood from blood poisoning, metabolic crisis with lactic acidosis or liver failure. Survivors will develop further symptoms which will then form Kearns-Sayre syndrome. They suffer from salt and pepper pigmentation in the eye, muscle weakness around the eyes / eye movement problems and heart disorders and balance problems, the liver, the kidneys, the brain,…,…
Regular check-ups with many specialists are necessary to keep a close eye on everything.. such as a liver doctor, a cardiologist, a nephrologist, an ophthalmologist, an ear specialist, a neurologist, …
Confirmation of the diagnosis is done with the help of a genetic test. There is no cure or anti-defensive drugs. Treatment is therefore supportive and includes, for example, frequent blood transfusions, pancreatic enzyme replacement therapy, avoidance of contact with other sick patients, and treatment of infections.
We would like to use the collection for medicines that she needs every day, it is expensive and non-refundable, we also want to use part to further research the disease in order to guarantee other children faster and better treatment.
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