Lillie Tyson Sep 2017 (5)

This is Lillie.  Lillie is a very special little girl.  Although non-verbal, she is very expressive in other ways and has an infectious smile.  She loves music, Disney movies, riding her bike, swinging, and playing outside.  Like so many other families of children with special needs, we have been through years of countless therapies, doctors, tests, it was a long journey to our ultimate diagnosis which we received in August 2017.  The diagnosis was an extremely rare disorder, one of very few known in the world with a rare genetic variation on the HNRNPH2 gene.  We first discovered this through a letter sent by families wanting to connect with others who had been impacted by HNRNPH2 genetic variations.  I thought to myself, “They’ve made a mistake.  They’ve either sent this to the wrong patient, or there is something we don’t know.  This string of letters was unfamiliar to me.  You see, we had been through a myriad of genetic tests since Lillie was one year old and everything always came back normal.   We ultimately did whole exome sequencing in 2014.  Two variants were found (neither of which were on the HNRNPH2 gene) that were also found in her father.  It was not certain if these were causing her issues or if they were insignificant.  We still had no answers.  We received an Autism diagnosis in May of 2015, along with Global Developmental Delay as we knew that there was something causing other aspects of Lillie’s condition that could not be attributed to Autism.  In addition to your typical symptoms related to Autism, such as sensory processing difficulties, anxiety, and speech impairment, Lillie was also experiencing low muscle tone, muscle weakness, delayed walking (Lillie did not walk until age 3), abnormal gait, incoordination, dyspraxia, difficulty eating, and orthopedic problems that could not be linked to Autism. And then, two years later, I opened and read this letter describing these sweet girls and at the end of the letter, there were photographs.  We couldn’t believe how similar they were, any of them could have been Lillie’s sister.  We realized we may finally have an answer! We confirmed that this had been found in a re-analysis of our daughter’s DNA one year after the initial whole exome sequencing.
We couldn’t believe how similar they were, any of them could have been Lillie’s sister.  We realized we may finally have an answer!  We confirmed that this had been found in a re-analysis of our daughter’s whole exome sequencing conducted in 2015, one year after the original analysis.  My husband had lived for 3 years feeling as if this was something that our daughter inherited from him, but that for some reason he showed no symptoms of.  So, you can imagine our surprise when we discovered that the lab had conducted this re-analysis and found a previously undetected de novo variation on the HNRNPH2 gene.  And we had slipped through the cracks and were not delivered this new news for 2 years!  In the year since we received our new diagnosis, we have connected with and gotten to know other families touched by this rare disease (these are some amazing girls with wonderful families!), we’ve discovered that they are not only similar in appearance, but also in behaviors and even seeming personality traits such as likes and dislikes.  Banding together with other families to form The Yellow Brick Road Project, has given us a new found purpose.  Having others to share this with has had a tremendous impact as we share experiences and ideas. We’ve gained knowledge that we didn’t have before which will allow us to take preventative measures we didn’t even know we needed to take previously.  We’ve been alerted to potential medical conditions that some experience, shared ideas on adaptive equipment and dietary supplements, as well as information on trusted doctors and alternative therapies.  Our road to a rare disease diagnosis for our daughter was a five year journey that I can only describe as trying to take a road trip, with no map, and not knowing your starting point or your destination.  Finding this and connecting with others has been truly life-changing.  Now, we have our starting point, we have friends to share our journey, and we have opportunities to help others.  Don’t give up!  Don’t let yourself fall through the cracks!