Thank you for this opportunity to share with you the story of a truly extraordinary boy, and an incredible opportunity to participate in a fundraiser for children, and their families, involved with The Children's Hospital of Philadelphia (CHOP). This non-profit organization was started by James’ family with the hopes to help other families going through similar situations. Donations received will be directly placed into a fund at CHOP to be utilized by the Metabolism Department. Through this fund families will be able to receive financial support for necessary medical supplies that are not otherwise covered by insurances. Children, like James, with rare disorders often require a specialized medication regimen and diet which is often expensive and not a covered benefit with most insurances. Families struggle to provide their children with what is medically and nutritionally vital to their well-being. It is our sole focus to provide support to the children, and their families, so they can thrive. To provide you with an understanding of where our drive comes from, here is the story of our happy warrior James.
James was born in July 2013. I had a normal pregnancy, up until my 38th week when my OB did an ultrasound that showed he was measuring small, only about 5 pounds at that time. I was sent in the first thing the next morning to see a maternal/fetal medicine OB to have a more specific ultrasound done to assess James’ weight. At this appointment, he measured about 5 pounds 1 ounce and they said that there was a “blockage” in one of his umbilical vessels that was not causing him distress, but causing him to not receive the full nutrition he needed to grow and gain weight. It was decided at that time I would be induced, being that James would do better out of the womb than in. James weight when he was born was 4 pounds 11 ounces. Other than being small, he was otherwise healthy and was able to come home with me from the hospital. Over his first year we spent a lot of time focusing on his growth and weight gain. We were seeing the Gastroenterology department at CHOP to see if there was a GI reason as to why he was having Failure to Thrive. He had a GI workup which was all normal, and his poor growth was attributed to a severe case of reflux. On the night of his 2nd birthday, he had his first seizure, and then two days later had another seizure which prompted us to come to CHOP.
James was admitted and had a complete workup that included metabolic, neurologic, GI and genetic causes. We met many different people, from different specialties and were pleasantly cared for by each service. We met Dr. Ganetzky and Dr. Ficicioglu of Metabolism. Their bedside manner and demeanor was incredible. They were very communicative of their thought processes with James and what things they were testing for. Dr. Bearden of the Neurology service was the attending that spent a lot of time with my husband and I, explaining all of the different types of seizures, causes for them and what specific testing was being done for James neurologically. He spoke in a very matter-of-fact way and was precise with his words, but did not use a ton of medical jargon that was hard to follow. At the end of that same day, we met Dr. Deardorff of Genetics. I honestly have to say that hearing my child needed to see a geneticist was quite a hard pill to swallow, but Dr. Deardorff certainly calmed my fears. He is extremely personable, delightful and compassionate. His bedside manner with James, as well as my husband and I, is impeccable. Just like the other doctors we had seen, he was very thorough and was completely transparent with us as to his thought process and genetic causes of James’ symptoms he was considering. All of these doctors we had seen made us feel that although James was going through a large amount of procedures and testing, that it was all in his best interest to leave no stone un-turned and to get answers for us, and for James.
It was determined that James has two very rare disorders, which are not associated with one another. He has a genetic disorder called Floating Harbor Syndrome. There are only about 50 known cases in the world of children with this disorder. Our genetics expert, Dr. Deardorff, personally has seen this genetic disorder and also cares for another child here at CHOP with the same disorder. We also received the news that James had a late onset Metabolic disorder called ASA Lyase Deficiency. It was interesting because James had screening done as a newborn which should have flagged one of the metabolic markers and it had not. Our team of doctors in Metabolism, and Dr. Deardorff, had spoken with Centers for Disease Control (CDC) and it was determined that James was the only child, ever, to have a late onset metabolic disorder that did not show an abnormality on his newborn screen. It was after this discovery that his team of physicians wrote a case study about James to be published. Our hopes are that James rare situation will potentially help many other children and families!
Floating-Harbor syndrome (FHS) is an extremely rare genetic disorder characterized by a distinctive facial appearance, various skeletal malformations, delayed bone age, and expressive and receptive language delays. The specific symptoms and severity FHS can vary greatly from one person to another. Treatment is symptomatic and supportive. Floating-Harbor syndrome was named after the two hospitals where, during the 1970s, the first cases were identified and reported in the medical literature; namely, the Boston Floating Hospital and Harbor General Hospital in California.
Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. Complications from argininosuccinic aciduria may include developmental delay and intellectual disability. Progressive liver damage, skin lesions, and brittle hair may also be seen. Dietary restriction of protein and dietary supplementation with arginine are the mainstays in long-term management
It was truly an emotionally and mentally challenging day hearing the results of James’ tests and diagnosis but it gave us hope. We had answers. We could finally say we understood what was happening and why it was happening. Not knowing and having that understanding is an incredibly powerless feeling as a parent. We know had a true sense of hope, power and determination for the best outcome for James as possible. We are now able to the best advocates for James and help to give him the best possible outcome! We are eternally grateful for the extremely bright and incredibly caring minds, hearts and souls of The Children's Hospital of Philadelphia!
Visit our Par for the Harbor website:
See more of James' story on the CHOP Robert's IMGC webpage: