Ciaran was born on April 23, 2018.  At around 10 weeks old, we noticed that Ciaran wasn’t meeting his milestones.  Countless doctors’ appointments and early intervention visits followed for the next several months with no real answers.  In late January 2019, Ciaran began having a series of strange movements, mostly at night.  Thanks to our neurologist’s quick intervention, Ciaran was admitted to the hospital and placed immediately on a video EEG.  The next morning, he was diagnosed with Infantile Spasms, a rare seizure disorder.  He was placed on ACTH (a hormone steroid) with the hope of halting the seizures.  The six weeks on that medication were frightening.  There was a constant fear of relapse, of the devastating side effects from the medication, and the way that the medication just absolutely zapped Ciaran of his essence.  Although it was a tough time for all of us, the medication had the desired effect. 

Our next step was finding the underlying cause for the seizures.  In March of 2019, we went to a geneticist so an epilepsy gene panel could be run.  Blood was drawn from Ciaran and saliva was taken from both Pat and I. 

On May 1, we received the results that Ciaran has a rare genetic disorder called GRIN1.  By rare, we were told that there are currently about 100 diagnosed cases of GRIN1 in the entire world. 

We were then told that many GRIN1 children share the same traits, some of which are seizures and low muscle tone.  Many of the children are also non-verbal, non-ambulatory, and require lifelong care. 

Getting this information while sitting in the geneticist’s office, holding my one year old son, was absolutely devastating. 

However, we knew that our mission would be to provide Ciaran with all of the tools possible to be more than just his diagnosis.  We have a wonderful team of physical therapists, occupational therapists, doctors, friends, and family that provide the best care for him and push him to work his hardest.  Like many other GRIN parents, instead of milestones, we measure Ciaran’s progress in “inchstones”.  He has started rolling over and he sure can get his bottom half wiggling, which shows me that he wants to move!  He looks at his family and smiles and laughs, which is something we had been missing.

2020 provided us with a unique set of challenges, outside of Ciaran’s diagnosis!  In March, all of Ciaran’s in person therapies were suspended.  We made the switch to telehealth for PT, OT, and Speech.  The entire extended family worked hard to make sure that Ciaran was getting the best help he could while he was home.  March also began a bigger gastrointestinal struggle for Ciaran.  Because of his low muscle tone, his system doesn’t work as quickly as it should causing massive discomfort for days at a time.  Our gastro told us that the diagnosing of motility issues has advanced, but unfortunately, the treatment has not.  It’s a constant battle to make sure that Ciaran’s system is doing what it should be.  BUT!  We have not lost hope.  Ciaran is SO loved.  His smile can light up a room.  We love to hear his laugh.  He can follow our voices and follow us.  He’s working hard and that’s why we are working hard to find a cure!

This diagnosis has taught us what patience, perseverance, and love look like.  Our neurologist reminded us that Ciaran’s book has not yet been written, and I hold on to that.