The long promised roll out of Leta’s Genetic Syndrome by Dr Ian Krantz and his team of researchers at CHOP is taking longer than expected because they are needing to finish up the research and get it published.  But what I know so far is that Leta’s gene mutation on gene AFF4 on Chromosome 5 is proving to be a critical gene in understanding how genes communicate with each other on a cellular level.  It seems Leta’s gene is over-reactive in producing a certain protein and if Krantz’s gene research can better understand how to intervene and turn on and off this activity, they are hoping to find ways of using this manipulated gene transcription to target all kinds of other genetic problems in the entire human genome.

So that is the quasi-scientific update on Leta’s research, but the question I keep being asked is:  How does that effect Leta’s life?   Well it doesn’t.  Leta will not be able to benefit directly from this research.  Her genetic course is set, but she WILL be able to help so many other kids.  If Dr Krantz is right, the research into Leta’s gene AFF4  will  help to understand and correct  all types of genetic mutations that occur in  kids in-utero or later in life .  As a layman I do not even begin to understand the studies they are doing with cohesion, super elongation, and gene transcription.  It is too complex for my English major brain, but I am proud and excited that my little Leta, is making such a big contribution to genetic research.  She was born for a reason.  And I thought that reason was to teach us all about unconditional love, patience, resilience, and human empathy.  But the bonus is that she might end up being part of an important scientific discovery that would not have happened without her.

There are only three beautiful children so far identified with this syndrome.  Leta, Liam and Nadira.   The syndrome is still unnamed but may perhaps be called The CHOP syndrome, an acronym for the manifestations of the kids disabilities.  C- cognitive ; H- heart problems; O- obesity ; P- pulmonary.  I still think it should be called the Leta, Liam and Nadira Syndrome.  That name just rolls off my tongue, but ultimately, we do not get to decide.