The story of Ashley
I’d like you to meet Johnny! He is 22 months old. When Johnny was just 4 days old his newborn screening tested positive for a rare disease called Maple Syrup Urine Disease (MSUD). MSUD is a disease where his body cannot break down a branch chain amino acid called leucine. If leucine builds to toxic levels in someone’s body it leads to brain swelling, seizures, lethargy, coma and eventually death within the first weeks of life. MSUD affects approximately 2,000 people here in the USA; 1 in 185,000. The only way to monitor his leucine levels is through blood draws; sometimes weekly, sometimes bi-weekly, hopefully one day less! When Johnny was 5 days old we received news that his newborn screen had also tested positive for Cystic Fibrosis (CF). CF is a disease more widely known about. Johnny’s type of CF (DDF508) affects his pancreas, liver and lungs. He has a difficult time absorbing fat and nutrients from food. His mucous is thicker than those without CF so when he catches a cold he has a harder time getting over it and many times requires antibiotics or hospital stays. CF can also lead to CF related liver disease.
Johnny is only the second child in the world to have both these diseases simultaneously. The ONLY one in the US! The chances of having both these rare diseases together is 1 in 76 million! Talk about RARE!!
Both of these diseases work against each other in many ways. With MSUD we have to limit Johnny’s protein intake to about 14g of protein a day (this is ever changing based on lab work). Those with CF need a diet high in protein and fat. Thankfully, we have access to formula and other medical foods that compensate for the lack of protein in his life and he can get “incomplete protein” from his formula and extra fat as added oils in his foods.
In his short life he has had over 400 blood draws, multiple IV’s, 3 PICC lines, a dozen (or more) in-patient hospital stays. The clinic we go to is 3 hours from our house and weekly trips there are not unusual.
Despite these diseases being so completely opposite, Johnny is thriving! We are blessed to have amazing medical teams who compliment each other and work together at every turn to keep him growing and healthy. We celebrate rare disease day every day in our house but are so thankful to have the opportunity to teach everyone about it on February 28, 2017!