James was diagnosed with two rare disorders, and due to this there is little known about long-term outcomes. Floating Harbor Syndrome is a genetic syndrome with about 50 known cases in the world. 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. This disorder is characterized by 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.
Argininosuccinic aciduria (ASA Lyase) 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.
We are hoping that this event not only sheds light on James’ disorders, but also to the vast array of rare pediatrics disorders. It is also our hope that we can bring other children and families with such disorders together for one common cause, and foster relationships amongst us. We wish to inspire our guests and attendees to be giving of their selves for such a worthy cause that has the potential to make a significant impact in the small community that is involved.
Our proceeds are raised with a combination of methods. We host a yearly golf outing, followed by a catered reception. At the reception there are raffle baskets and 50/50 chances available. There are also items for sale, such as Par for the Harbor T-shirts and other apparel and accessories at the event. We have an online donation page through the Children’s Hospital of Philadelphia:
Proceeds obtained from all donations, golfers, reception attendees, and from the purchase of tickets for raffle baskets and 50/50 will be donated to The Children’s Hospital of Philadelphia.
Given the rare nature of these disorders, there is not much research and knowledge about the long-term effects that these disorders can have on a child’s future. The uncertainty of such disorders causes children, and their families, to feel extremely isolated. We are proud of James, and who he is. He has rare disorders, but that is not all that James is. We want to inspire other families to embrace their rarities and be prideful of who they are/who their children are. We also want to inspire others to not shy away from children and families like ours. We want to give hope to those who may be silently struggling and feeling isolated to know that they can be themselves, and they are not alone.