I was a little worried when I noticed that only about a quarter of Nolan's medical records had been faxed to the Cleveland Clinic. Knowing that we only get one shot at this, I was concerned that the partial records would make for an useless appointment.
I sent in medical records request letters to our ENT, Pediatric Ophthalmologist, and GI doctor, so that some of the missing records would find their way to the Clinic.
Yesterday, the phone rang. It was the genetic counselor at Cleveland Clinic - she noticed that some of the records were missing from the pediatrician's office.
"There is a record mentioning an echocardiogram, but there is no echo. There is a record mentioning an MRI scan, but there is no MRI scan."
"Are there any endoscopy biopsy results? Labwork? Ophthalmology reports?"
"No. There is no mention at all of his vision problems."
"OK, I'll get on that."
There were 54 pages sent, probably about 1/4 of Nolan's medical records. I'm working on getting the rest sent directly from the specialists. The records sent to the Clinic were missing his genetic testing work from 2008 (just Connexin 26, Connexin 30, and mito A1555G, which were all negative for mutations). The records were missing all mention of vision issues, reflux test results, biopsy results, labwork, etc.
The rest of the records should slowly start filtering in to the Clinic this week. I will fax the rest of the missing records (early ABR hearing tests, genetic test results, etc) tomorrow.
I am SO impressed that the Clinic noticed the missing records and called me about them. I honestly don't think anyone has ever sat down and reviewed all of Nolan's medical records before.
We may never have a comprehensive diagnosis, but I am impressed with the attention to detail and the professionalism at the Cleveland Clinic. I feel like I can trust their judgment - they have really looked at his entire case and have seen kids like him before.
I really can't wait for our appointment next month. We may not get answers, but maybe we'll get get pointed in the right direction with our care of Nolan's most pressing medical concerns. Sometimes, getting pointed in the right direction is the most important thing.