When the NICU nurse told me that it wasn't normal for Juliana not to be eating, I cried. I didn't know the ramifications of her statement but I knew that this wasn't good news.
When the pediatrician told me that we should seek genetic counseling if we wanted to have another child, I cried some more. She wisely suggested an anti-depressant.
When the neurologist said that it was time to order genetic testing, I cried again, but by this point I was becoming accustomed to the tears. We drew the blood and I promptly tried to forgot about it.
When the initial genetic testing came back with normal results, we were happy but we weren't dancing in the streets - we still knew that something wasn't right. The microarray testing was good in that it eliminated many different syndromes and it helped narrow the focus.
We waited six long months for an appointment with a geneticist. That appointment was today. I am thankful for the long wait because I have needed every bit of that time to come to peace with Juliana's health.
I thought I might cry at today's appointment, but I didn't. It was actually a very good appointment. I was glad to have David with me today - I knew that there would be a lot of information and I wanted him to hear it first-hand.
First we met with a genetic counselor. She reviewed Juliana's health history and she asked us about our family's backgrounds. She asked about research that we had done and if we had any inclinations as to what kind of syndrome that Juliana has. David and I gave up trying to diagnose Juliana a long time ago, there are SO many genetic disorders and we didn't see the point in trying to filter through all of them. There were a few genetic disorders that I was especially afraid of and I held my breath a bit when the genetic counselor told us that they had a theory as to which syndrome we were dealing with.
After awhile the doctor came in. She did a physical examination of Juliana which confirmed suspicions of the suspected syndrome.
And, drum roll please.... it's called Kabuki Syndrome. I'll be surprised if anyone has heard of it as it affects something like 1 in 32,000 people. Juliana will have a blood test to see if she has a mutation on the MLL2 gene, however the test comes back with a positive result only about 50% of the time. Even if the test is not positive, she will still be considered to have Kabuki. The test on the MLL2 is very, very new and there could be another gene that also causes the syndrome. Genetics is a rapidly changing field and I am sure that as the years go by we will know more and more specifics about Juliana's syndrome.
David and I were rather relieved by the diagnosis. No, it isn't "normal;" it isn't typical. She will continue to have many challenges. But it's not a regressive condition. There is not a shortened life expectancy. She will undoubtedly have learning disabilities but there's the chance that they could be mild. There were only two concerns that we took away from the appointment. The first is that there is always the possibility that she could have seizures. Although she has never had a seizure, it is something that could show up later. The second is that there is a possibility for hearing loss.
I did cry again today... but tears of relief. It's good to have a diagnosis. I didn't realize how much it would mean to me to have a syndrome with a name.