I’d like to introduce you to Johnny, our little MSUD and Cystic Fibrosis Warrior. Johnny was born on April 11, 2015. We had no idea throughout my pregnancy that he had any genetic diseases or disorders as I opted out of genetic testing. No matter what the results of a test would have been, I was still having my little boy!

Johnny was diagnosed with MSUD from his newborn screening when he was 4 days old. We were told to go to Children’s Hospital of Philadelphia immediately, which is about 2.5 hours away from where we live in Dauphin, Pennsylvania. The following day, when we were at CHOP, he was also diagnosed with Cystic Fibrosis (CF), another genetic disease. The defective gene in CF does not allow sodium to be released into the body. This makes mucus very thick, causes persistent lung infections and progressively limits the ability to breathe. If Johnny gets a simple cold it can take him weeks to get rid of it because he cannot properly clear the mucus that houses the infection. CF also makes it hard for Johnny to gain weight because the mucus lines his intestines and stomach making it difficult to absorb nutrients. He is only the second child in the world to have both these diseases simultaneously. Neither my husband nor I had any idea we were carriers of both these diseases and who would have thought our little man would end up with both of them?!

After a week at CHOP getting Johnny’s leucine levels down, we were finally allowed to go home! However, we ended up back at CHOP within 4 days of being discharged. While we were in the hospital the first time, Johnny contracted Rhinovirus. He was air lifted immediately back to CHOP where he was placed on a C-Pap machine to help him breathe. His leucine was elevated, but only slightly, thankfully! Johnny and I lived in the NICU for 2 weeks. Once he was able to come off the C-Pap he was moved to the Pulmonary floor for a week. After 3 long weeks at CHOP we were able to go home again. Johnny was healthy! Thankfully, we have been home ever since. Our little guy has spent more time in the hospital than both my husband and I combined over our entire lives.

We are currently considering what options we have for the management of Johnny’s MSUD for the rest of his life; dietary management or a liver transplant. CHOP has not spoken to us about this yet, but we know it’s a discussion we would like to have as Johnny gets older. He’s only 4 months old so we know we have time. Our decision will have to take into account his CF, which throws a whole other ball into the court. Johnny’s daily CF care involves giving him special enzymes before every bottle or every time he eats (when he can have real food). We also have to do nebulizer treatments with chest physical therapy twice a day. The treatments increase to four times a day when he gets sick or has a cough. Each treatment takes an hour. We have amazing teams of doctors, though, so I know we will make the right decision and the best decision for our family and especially for Johnny.

Johnny has a big sister at home who is 3½. Faye is a perfectly healthy child who loves and accepts her little brother wholeheartedly. She loves to help make sure he has all his supplements and reminds me of everything I need to do when it comes to managing his CF.

Johnny’s Dad and I are extremely grateful for newborn screening. We are so blessed that Johnny never presented in a metabolic crisis, though his leucine numbers were high. We are also fortunate that he has not been negatively affected developmentally and that we have been able to keep his numbers in check while we are at home.

I am so very thankful we found this MSUD support group. I know I will have many, many questions about diet and transplants in the future. In the meantime, I’d like you all to meet Johnny, our amazing little warrior who is going to defy all the odds in his life!

From The Chairman’s Desk

On July the 21st the MSUD Board of Directors traveled to Bethesda, Maryland for our annual Board meeting. We stayed at the Hyatt Regency in Bethesda.

Read More

My Trip To Israel

I met Avi, Dikla, and Tamar Starr last year at the MSUD Symposium in Raleigh, NC. Tamar, classic MSUD, was 2 ½ at the time, and they invited me to come to Israel and stay with them for a year.

Read More

Metformin As A Possible Therapeutic Agent In The Treatment Of MSUD

The MSUD Family Support Group has provided funds to Buck Institute for its preliminary studies investigating metformin

Read More

MSUD Advocacy Update

Healthcare and issues facing the rare disease community have been at the forefront of national conversations over the past 6 months.

Read More

I want to help out, but I don’t know how

Have you ever wanted to help out the MSUD Family Support Group but were unsure about how to contribute? The MSUD Family Support Group is actively looking for volunteers to assist with advocacy and fundraising efforts.

Read More

20th Annual White Horse Beach Charity Golf Tournament

On July 29, 2017 Charlie O’Rouke and his committee held the 20th Annual White Horse Beach Charity Golf Tournament.

Read More


A Child's Life

Subscribe to our mailing list

Signup To Our Newsletter Signup with your email address to receive news and updates