Homocystinuria is a fairly rare genetic blood disorder. It is estimated that it affects 1 in 200,000 to 1 in 335,000 worldwide. It is an amino acid disorder where people who have it are unable to process and metabolize amino acids properly, especially amino acids specifically necessary for metabolizing proteins such as methionine.
Symptoms of homocystinuria may include, but are not limited to myopia, osteoporosis, skeletal abnormalities, failure-to-thrive, blood clotting, seizures, learning disabilities, developmental delays, anemia, thrombosis, atherosclerosis, strokes, cardiovascular problems, respiratory problems, kidney failure, skin disorders, and a general cascade of overall health decline. The lifespan of people who inherit this disorder is short, they normally die of heart-related disease.
Often the failure to process the amino acids properly leads to a build up of homocysteine in the blood leading to blood clots which lead to cardiovascular problems.
This is an autosomal recessive disorder caused by a mutation of genes from both the mother and the father. Each child from these parents have a 25% chance of inheriting an “active” form of the mutation. It must be inherited, it is NOT contagious.
In Machelle’s case she inherited the active mutation and suffers chronic auto-immune disorders, extreme food sensitivities, daily migraines (to the point of seizures), osteoporosis, increasing opthalmic disorders (may need a cornea transplant in both eyes at some point), ongoing kidney stones, blood clotting disorders, and amino acid metabolism problems.
It is because of the amino acid problems and the extreme food sensitivities, which cause Machelle to suffer itching to the point of bleeding much like birds who mutilate their skin, that Machelle is able to understand, at a cellular level, the problems companion birds suffer from highly processed foods that contain preservatives, dyes and imbalanced amino acids. Also because foods that contain ingredients that are high in starches that turn into sugars that create the perfect growing ground for yeast infections, something Machelle’s system is extremely sensitive to, she can also understand how birds who suffer yeast infections feel as well.
Even though it will require ongoing research, so far Machelle has been successful in balancing her diet so that she no longer suffers daily, ongoing food sensitivities that cause her continuous itching and bleeding. She has also had tremendous success with birds that pluck their feathers and mutilate their skin for very similar reasons.
It is because of her lifelong research and study regarding her own health problems that qualifies her as an expert in addressing the same issues for companion birds. In other words her research for both herself and companion birds has been one of mutual benefit for both people who suffer from the cascading symptoms from homocystinuria as well as the many syndromes and disorders companion birds suffer such as yeast infections, feather plucking, and skin mutilation. This has also given Machelle a very unique understanding of nutrient deficiencies in cases of “failure-to-thrive” in areas of amino acid metabolism / protein absorption and metabolism, fat oxidation, carbohydrate utilization, mineral absorption (micro-nutrient deficiency), as well as a very good basic understanding of mast cell interaction with inflammatory diseases, allergies and overall food sensitivities. One added understanding is that Machelle has gained insight into the living creatures who suffer from seizures, ADD, ADDHD, Tourrette’s Syndrome, Wing-flipping and Toe-tapping because of the seizures she suffers from her genetic blood disorder.
Machelle works tirelessly on all of these issues hoping that she can make a difference in the lives of both humans and companion birds who suffer very similar symptoms. Machelle has found that birds and humans share very similar biological patterns, behaviors and responses in many of these disorders and syndromes, something she would have never learned if her husband George would have never introduced these beloved creatures into her life. She has much to be thankful for indeed, for these creatures have helped her as much as she has helped them.