Jun. 27, 2018
Posted by Christina Jensen
NORD’s Rare Disease of the Week is Levy-Yeboa Syndrome, a very rare inherited, multi-system disorder. For more information about this disorder, you can visit the Levy-Yeboa Syndrome Rare Disease Report here. The guest blog post below was written by two parents of a child, Spencer, who passed away from Levy-Yeboa Syndrome, Stacy and Bobby Maxwell. After their son passed, they were motivated to raise awareness for the condition and worked with NORD to develop the Rare Disease Report and a research fund for the condition. This week, as we raise awareness for Levy-Yeboa Syndrome during our Rare Disease of the Week campaign, please consider making a donation to the research fund that Stacy and Bobby Maxwell established here.
Our story may differ from others in that when our son Spencer was born with a variety of rare symptoms, there was no known disease that matched them.
Spencer was born full term and we had no idea beforehand that something was wrong. At birth he had low muscle tone, blisters on his hands and feet, and a very weak cry. He had to have a feeding tube placed a couple of weeks after birth since the muscles throughout his body, including the muscles that enabled him to swallow, were weak.
As Spencer grew he developed more symptoms. He needed to be hospitalized due to a simple cold because it would trigger life-threatening secretory diarrhea, which the doctors had a hard time controlling. We later learned that this was one of the main symptoms of Levy-Yeboa syndrome. He also had moderate hearing loss, scoliosis and a minor heart defect. Despite all these symptoms he had normal intellect, a great personality, and was the light of our lives. He responded well to physical therapy for the treatment of his low muscle tone and continued to hit milestones.
We had ups and downs with Spencer’s health but we also enjoyed a long period of time where he was well. However, when he turned two he became very sick (again it triggered secretory diarrhea) and needed to be placed in the pediatric intensive care unit. At this point, my husband and I were desperate for answers as to what was causing this. Spencer had already been tested for rare muscle and skin diseases and they all came back normal. We were by his side every day and spent the evenings in the hospital library urgently looking online for answers.
It was during this time that we came across NORD.
We had never heard of NORD but the organization provided a wealth of information. Hours were spent going through NORD’s database and looking at every disease that could possibly be a match for Spencer’s symptoms. I read everything I could get my hands on, including medical and research articles. One night I came across a PubMed article written by a handful of doctors including Dr. Levy from the NYU School of Medicine. The article spoke of what was possibly an undiagnosed disease in three siblings. The symptoms matched almost exactly.
Spencer’s doctors were able to contact Dr. Levy to get his opinion as to whether his condition matched the three siblings under his care. He agreed based on his symptoms, this was the same disease. Unfortunately, there was no cure and only the symptoms could be treated.
Despite the best efforts of everyone involved, Spencer passed away at the age of 2 ½.
After his death, we wanted to see what we could do to raise awareness of this condition. Not knowing where to turn, I emailed NORD. Upon a nearly immediate response from their team, I put them in touch with Dr. Levy. NORD worked with Dr. Levy who graciously, with his colleague, Dr. Yeboa, developed a report describing the symptoms in Spencer and the three siblings, and called the condition Levy-Yeboa syndrome. We can never thank them enough for their tireless efforts and research.
Once a report on Levy-Yeboa syndrome was listed in NORD’s Rare Disease Database, NORD informed us of their request for proposal program to raise money for research. This program is vital when the disease is so rare (only four cases that we know of) because research funding is not available from other sources. Through the years, our family and friends have donated money at Christmas time in Spencer’s memory to be used for Levy-Yeboa syndrome research. The fund currently has just over $20,000 and we are anxious to get to $35,000. Once that goal is met, NORD will begin the process of issuing a request for Levy-Yeboa syndrome research proposals.
We miss Spencer every day and are so thankful to have had him for 2 ½ years. He was our only child and he was perfect to us. He loved anything Elmo, working puzzles, and being read to. We find comfort knowing he is with Jesus and we will join him one day. Please help us in reaching our goal so the next child born with this condition can have a chance to live to adulthood.
To make a donation into our Levy-Yeboa syndrome research fund, and help get us to $35,000, please make an online donation directly to the fund here. Thank you so much for reading our story.