Not every surgery performed is a result of an injury or birth defect. Occasionally, the underlying issue that may require surgical correction is the result of a genetic disorder. Of the more than 160 patients that were screened during yesterday’s triage session, at least three of the patients were diagnosed with a genetic disorder. Other patients were identified as likely suffering from a genetic disorder, but would require further testing, which likely would not be readily available in Guatemala.
One child was screened yesterday presented with Proteus Syndrome. Proteus Syndrome is a rare condition characterized by overgrowth of the bones, skin, and other tissues. Organs and tissues affected by the disease grow out of proportion to the rest of the body. During his 16 year career, Dr. Daryl Scott, our resident genetic expert, has only seen one other case where the patient had presented with Proteus Syndrome.
Another child was diagnosed with Goldenhar Syndrome. Goldenhar syndrome is a rare congenital defect characterized by incomplete development of the ears, nose, soft palate, lip and mandible. The child had two very small ears, one without an ear canal, and a beautiful smile. While the surgeons on hand were not going to be able to help at this time, because of Faith In Practice’s continual efforts, a future team with an ENT specialist will hopefully be able to provide the necessary assistance to allow this child to hear.
The third child was diagnosed with Nager Syndrome. Nager syndrome is a rare condition that mainly affects the development of the face, hands, and arms. The severity of this disorder varies among affected individuals. Children with Nager syndrome are born with underdeveloped cheek bones and a very small lower jaw. In the present situation, the child was also born with small ears and abnormal bone growth in her hands and forearms. It was good that the physicians on hand were here to make the diagnoses, however because of her age she could not undergo general anesthesia and would need to wait several months for a different surgical team.
Occasionally the surgeons on hand cannot not perform each and every surgery they diagnose. Instead, the parents of these children are counseled and advised of their child’s prognosis and future steps. When possible, future surgeries are referred to other Faith In Practice teams with the necessary expertise. However, despite the desire and hope of the team, occasionally there is a patient that cannot receive comfort in mortality through a physician’s hand. Instead, they only have the hope promised each of us has received from our God who “hath both raised up the Lord, and will also raise up us by his own power” (1 Corinthians 6:14). For these blessed souls who suffer through affliction is the promise that they too will also have the opportunity to rise with our Lord and Savior free from the afflictions and torments of this world. It is each of our responsibility to remember that the Lord comforts us in all of our tribulations “that we may be able to comfort them which are in trouble, by the comfort wherewith we ourselves are comforted of God.” (2 Corinthians 1:4).