Charlottes parents suspected something was wrong when Charlotte kept getting respiratory infections, seemed delayed and needed hip splints but the pediatrician assured them she was fine. Normal baby issues. When Charlotte was 5 months they went to a birthday party and purely by luck there was a pediatrician who recognized the signs of Hurlers. She asked if Charlotte had had genetic testing and told them why. Kim immediately started the process of getting a diagnosis. Finally, she thought, we'll have answers. Charlotte then got pneumonia and was hospitalized for 2 weeks around Easter.￼
When she improved the genetic testing was done.
The answer was confirmed on May 1st when Charlotte was diagnosed with the most severe form of Hurlers. Kim, Charlottes mother, who had already missed many days of work due to her "normal baby issues" had to leave work and be with her daughter all the time. Charlotte already had many, many abnormalities from this including her need now for oxygen and her parents were told the worst is yet to come.
Charlotte began enzyme treatments but these do not cross the blood brain barrier so Charlottes brain would continue to be ravaged by the havoc Hurlers causes. Her best chance of survival and best bet for the neurological issues was a bone marrow transplant. A hero appeared through a 21 year old selfless person who was a great match for her. Her parents applaud this hero.
Charlotte was admitted to Children's and had 8 rounds of chemo￼
and then her bone marrow transplant.￼Charlotte is suffering with complications now and is currently in ICU. This sassy little princess will bounce back but she has a lifetime of issues to deal with. Her spine has severe deformities and the chance of her walking is only 25 percent. Many other skeletal issues persist. Talking will be a battle, repiratory issues, etc.
This young family is a valiant, loving group but Charlottes illness has been devastating financially. Any help you can give will be most appreciated and put to good use as they continue to stand by their daughter to help her reach her maximum potential throughout her life.