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Kenan SpencerLittle American with Krabbe disease
Date of Birth: 20.02.2000
Country:  USA |
Content:
Little American with Crabbe's Disease
A little boy lost the battle with a rare disease - Crabbe's disease - due to bureaucratic delays that prevented him from receiving timely treatment. Kenan's mother, Natasha, had unpleasant feelings during her pregnancy, but an ultrasound at 21 weeks reassured her. The boy was born in February 2011, supposedly without any health issues. However, at around eight months old, it became evident that Kenan had lost the ability to use his small hands. Natasha took her son to a pediatrician, who ordered an MRI. But before the MRI could be done, Kenan had to be rushed to the emergency room because of his terrible and unexplained cries. It was in the hospital that Natasha learned that her baby had become a victim of Crabbe's disease (galactosylceramide lipidosis). Typically, the disease progresses in children before they reach the age of two. This inherited condition damages the myelin sheath of nerve fibers in the brain and nervous system. Eventually, children lose their ability to hear, see, and swallow. Early symptoms in infants can include irritability and feeding difficulties. Other signs include unexplained crying, fever, developmental delays, vomiting, muscle spasms, and more.
Searching for a Cure
When Kenan turned nine months old, his mother was asked if she would allow the installation of a gastrostomy tube, which would deliver food directly to his stomach, bypassing other parts of the digestive system. Not wanting Kenan to die of starvation, Natasha agreed. But now she increasingly questions whether it is worth sustaining the life of someone who suffers terribly from the effects of Crabbe's disease. She consulted with a researcher in Pittsburgh, Dr. Maria Escolar, who has been studying the prevention of Crabbe's disease. Dr. Escolar discovered that umbilical cord blood transplantation in newborns with galactosylceramide lipidosis can allow affected children to lead a "relatively normal life." Transplanted patients grew up with few health issues, although many still had to use wheelchairs or walkers and visit speech therapists. The transplantation was performed within the first seven weeks of the children's lives. Dr. Escolar's team tried to help those already showing symptoms of Crabbe's disease, but the results were disappointing. In other words, if the insidious disease is not detected immediately after birth, there is nothing that can be done to counter its harsh progression. When Natasha arrived to see Maria, she learned that Kenan's age was no longer suitable for cord blood therapy.
A Life of Adaptation
As Kenan grew older, his family had to adjust to life with a child in need of serious medical assistance. If Kenan is in a vertical position, there is an increased chance that his airways will become obstructed, so his parents must constantly monitor his posture. Additionally, the disease is causing Kenan's spine to become increasingly curved. His mother massages him daily and uses heated pillows to combat the effects of growing muscle tone. The baby has lived for several years longer than initially expected, but his vision, hearing, and taste continue to gradually fade. Natasha has obtained a catheter to suction secretions from Kenan's throat, which can cause choking. She also has to frequently press on her son's chest with a special rubber device to encourage the expulsion of accumulated substances. After the diagnosis, Natasha sleeps next to the baby every night. She must literally keep her hand on Kenan's jaw to prevent it from becoming dislocated. Such manipulations lead to numbness in her limbs. Kenan's illness has affected his older sister, Tamsen, who was born two years before him. At just four years old, she expressed her sadness that Kenan wouldn't be by her side as she grew up.
Fighting for Change
Natasha laments that the state of Illinois does not make newborn testing for Crabbe's disease mandatory. Illinois has been trying to implement such screening for over a decade, but "numerous obstacles" have halted the program. Governor Bruce Rauner, speaking to the Chicago Tribune, stated that testing would become available closer to the end of 2017 but could not provide an exact date. Dr. Barbara Burton, who treats children with Crabbe's disease in Chicago, has fought for testing to be implemented for many years. She, like Natasha, is tired of the government's vague excuses. "Again and again, those in power make us believe that screening is just around the corner," Burton said. During a phone conference with health officials, Dr. Burton expressed her disappointment, stating, "It is inconceivable that we are discussing this in 2017, as the bill passed in 2007." One of the major issues cited with bureaucratic delays is difficulty with funding. Natasha has reached out to representatives in public health to persuade them of the urgency of implementing screening. At one meeting, she prepared a statement with subheadings emphasizing the harmful effects of inaction. One of the lines reads, "You've been dragging your feet for too long."
