Leo Hueckel-Sliwinski, was born on December 16, 2010 with a rare genetic disease, commonly known as Ondine’s Curse (CCHS). The automatic control of breathing is either impaired or absent in those who have CCHS, especially when asleep. As soon as Leo falls asleep, he requires mechanical ventilation via tracheostomy—an incision in his trachea through which a tracheostomy tube is inserted and connected to a ventilator.
Leo’s condition requires constant supervision and care, both day and night. There are only a few medical centers in the world that specialize in this disease, and access to care is extremely expensive. Ongoing rehabilitation and nursing also require a significant financial commitment.
History:
Twenty minutes after birth cyanosis and hypotonia were observed. The baby was put into an incubator with oxygen supply. The baby was intubated at 32nd hour of life. After attempts to extubate the patient, central apnea was observed, without anxiety and dyspnea, with steep increasing respiratory acidosis. Congenital central hypoventilation syndrome was suspected (CHHS). Isolated DNA was send to Robert Debre Hospital in Paris to perform a molecular examination. A mutation in gene PHOX2B (26/20) was found.
A tracheotomy was performed on 26.01.2011. At present the baby performs spontaneous breathing through tracheotomy tube during activity; he is mechanically ventilated while sleeping. An echocardiogram and 72hours ECG were performed. Congenital heart defect, pulmonary hypertension and severe arrhythmia were excluded; no prolongation of QTc interval was observed. Increased muscle tension was observed, mainly in lower extremities. No abnormalities of autonomic nervous system were found, apart from mild thermoregulation disorders. A rectum biopsy was performed; Hirschprung disease was excluded. There were no abnormalities in abdomen and brain ultrasound examinations. Magnetic resonance imaging of brain and medulla oblongata did not reveal any abnormalities. EEG did not reveal any abnormalities. There were no seizures observed during hospitalization. There were no abnormalities in metabolic laboratory tests. After 3,5 months of hospitalization in the Intensive Care Unit, Leo came home. He is under care of a special program of home ventilation.
Leohobby Jan 2012: books, music, food, playing with a ball, playing with a teddy bear, throwing a pacifier out of his bed, playing with suct funnels and his own feet.
Leohobby Nov 2012: books, drawing, playing with wooden blocks, eating, bathing, eating, unloading a dishwasher, eating.
Leohobby Jan 2015: cars, maps, travels, counting, reading, writing
