My name is Rachel, and my son Landon has Homocystinuria, a rare genetic metabolic disease in which he can not process the amino acid, Methonine. which is found in protein. This disease can cause developmental delays, stroke, seizures, heart attack, blood clots, several physical deformities and retina displacement. Therefore, he is limited to 10 grams of protein a day.
The disorder is similar to Phenylketonuria (PKU), Methylmalonic Acidemia (MMA) and Tyrosinemia. Each of these disorders require food products which are low in particular types of amino acids – Methonine in the case of HCU, Phenylalanine in the case of PKU.
Landon was diagnosed May 2011, after four years of misdiagnosis and no answers about his condition. Since receiving a proper diagnosis, his development and physical strength has greatly improved with a large amount of medications and proper diet.
Landon is also one of the first documented cases of Homocystinuria with white matter brain disease that has improved with Homocystinuria treatment. Each day is a struggle for Landon because he can no longer eat the foods he had grown to love and he is constantly at the doctor.
Despite these challenges, Landon always has a smile on his face and has become our hero. He is the bravest person I know.