Global Developmental Delays in Preston Leads to Birk-Barel Syndrome Diagnosis
September 28, 2014
Preston Kelley was born December 27, 2013. He spent the first three months of his life in the NICU at Children’s Hospital of Orange County CA. He was born full term at 5 lbs 10oz. He was born with hypotonia, a narrow cleft palate, feeding difficulties, Pierre-robin sequence (no airway problems), and transient hyperinsilinism. In the hospital he had a full metabolic work-up, countless CBCs, endocrine work-up, MRI, upper-GI, stim tests, FISH screen, karyotype testing, Prader-Willi, DiGeorge, and microarray. All the tests came back normal. Since discharge he has had three EEGs, an EMG, and nerve conduction study. The last EEG and other tests came back normal. Preston has global developmental delay, eats via g-tube (and a little by mouth), goes to feeding therapy, physical therapy, and is starting OT. In July we were no closer to a diagnosis and decided to pursue EXOME sequencing at UCLA.
Six weeks later we received a diagnosis of a extremely rare genetic disease called BIRK-BAREL Syndrome. It is a mutation of the gene KCNK9. Neither my husband nor myself have the mutation. The characteristics are intellectual disability, hypotonia, and high arched or cleft palate. Some dysmorphic features were noted but as of this time my son does not have any except a “fish” or down turned mouth. There is only one other published case of Birk-Barel syndrome in the world. We have been in touch with a Mr. Alistair Mathie a molecular pharmacologist in the U.K that published a paper on the potential of flufenamic acid (anti-inflammatory) impacting the ion channel impacted by the disease on mice. He is currently working on testing mefenamic acid (Ponstel).
We are thrilled we have a diagnosis, and are trying to wrap our brains around the rarity of the mutation. We are hopeful there is potential for treatment with one of the anti-inflammatory drugs. Until we know more we will continue to push forward and provide Preston with all the therapy and tools he needs to be the best he can be. We are seeking out a team to look at the studies being conducted and if there is evidence of the drugs working on Preston.
Developmentally, he is eating more by mouth (including purees) and has seen improvement in strength as well as improved motor skills after months of physical therapy. With few known cases and studies we are not sure what the future will look like. If anyone has any additional information, research, or knows of any families with this syndrome please reach out to us! My advice to other families is to keep pushing for answers and never give up hope! Our diagnosis journey has ended but a new journey is just beginning. Thank you for taking the time to read about Preston!
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