There was a hiccup with Gavin’s latest genetic screening

I meant to share this last week but just never got around to it. 

I received a call from the Cleveland Clinic’s Cole Eye Institute last week.  This was in regards to genetic testing Gavin had done for an extremely rare disorder called Jalili Syndrome.

This testing was started early last year and it’s taken forever to get any information. 

Unfortunately, this call I received last week was to tell me that they need another genetic sample from Gavin because what they had would not produce viable DNA. 

Rather than us having to make a trip to the Cleveland Clinic, just for bloodwork, we’re taking a different approach.  They decided to send us a genetic collection kit in the mail and all Gavin has to do is spit into the little tube.  UPS will then deliver it to the lab where they will try to run the genetic screening once again. 

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Important Update to Gavin’s genetic testing for Jalili Syndrome

It’s been many months since I received any news from the Cleveland Clinic in regards to the genetic testing Gavin had last year. 

Last year, Gavin had a very specific genetic test performed to diagnose something called Jalili Syndrome.

I received a call last year out of the blue from a genetic counselor at the Cleveland Clinic because Gavin’s specialist at The Cole Eye Institute had reason to believe that Gavin may in fact have Jalili Syndrome.… Read More



Gavin’s #IVIG infusion was different this time

Gavin’s IVIG infusion was different this time around.  As a result of being shorted on supplies, he missed one infusion last Friday. 

Today was the day we played catch up

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He received 1.5 times the normal dose, which amounts to 45cc’s infused subcutaneously into his belly.

This was a more painful infusion because it’s more fluid being pumped into his skin but Gavin did really well. … Read More



God grant me patience because I’m gonna need it today

We finally made it. We arrived at 10:30 am for a 10:00 am appointment. It should take about an hour to get to the Cole Eye Institute and I gave myself an hour and a half to avoid being late but the drive took 2 hours.  

Between potty breaks, getting pulled over, road construction, getting off in the wrong exit and more construction, it took an extra hour. 

I’m not in a really good place at the moment and my stress level is approaching stroke levels. 

Happy thoughts.… Read More