四岁患者的哈金森 - 吉尔福德早衰综合症

111个月前重返列表：儿童

卡莉库扎

年龄4岁
哈金森 - 吉尔福德早衰综合症
MERCY儿童医院俄亥俄州托莱多

卡莉为10个月大时被CMN医院捐款资助的基因检测诊断她与早衰症，一种极为罕见的综合症，导致畸形特征，加速老化，小巧的身材和寿命短。由于只有18的美国孩子以这种遗传性疾病，有没有为许多并发症呈现早衰症的标准治疗。

不久后诊断卡莉的母亲，希瑟，觉得她做出决定。她可以勉强接受的人知道早衰，并希望最好的一点，不然她能找到尽可能好的照顾她的女儿。当她的儿科医生呼吁，希瑟被问及如何投资，她将是卡莉的照顾。 “我们的”，她的儿科医生说，“无论我们不知道，我们会找到的。”通过CMN医院，她在他们需要的各专业领域的连接卡莉的领导者，他们的战斗开始了。 “我们没有治愈呢。”希瑟说，“没有任何协议或治疗，所以我们依靠CMN医院继续进行研究和突破。”CMN医院可以使卡莉的心脏科，内分泌科，神经科医生和儿科医生沟通直接对她的情况下，以及合作与早衰全球专家。

虽然希瑟感谢提供帮助卡莉的专业设备，她说了事情，她最感谢的不是一台机器。 “有一个愿意学习和探索定义这支球队是最好的，我们可以希望。”

Carly Kudzia
AGE 4
HUTCHINSON-GILFORD PROGERIA SYNDROME
MERCY CHILDREN’S HOSPITAL, Toledo, Ohio

Carly was 10 months old when genetic testing funded by CMN Hospitals donations diagnosed her with progeria, an extremely rare syndrome that causes dysmorphic features, accelerated aging, small stature and a short life expectancy. With only 18 kids in the U.S. with this genetic disorder, there aren’t standard treatments for the many complications that progeria presents.

Shortly after diagnosis Carly’s mom, Heather, felt she had a decision to make. She could settle for the little that was known about progeria and hope for the best, or she could find the best care possible for her daughter. When her pediatrician called, Heather asked how invested she would be in Carly’s care. “We’re in,” her pediatrician replied, “whatever we don’t know, we’ll find out.” Through CMN Hospitals, she connected Carly to a leader in every specialty field they needed, and their fight began. “We don’t have a cure yet,” Heather says, “There’s no protocol or treatment, so we depend on CMN Hospitals for continued research and breakthroughs.” CMN Hospitals makes it possible for Carly’s cardiologist, endocrinologist, neurologist and pediatrician to communicate directly about her case, and also collaborate with global experts on progeria.

Though Heather is grateful for the specialized equipment available to help Carly, she says the thing she’s most grateful for is not a piece of machinery. “There’s a willingness to learn and to explore that defines this team as the best we could hope for.”