Unsolved Mystery?

Sorry it's been awhile since I've posted.  I can't believe it's already May!

Just wanted to do a quick update on where we are in our journey to find a diagnosis for Kellen.  I know I posted back in February that the liver biopsy didn't show anything metabolic.  Well, apparently that doesn't exclude the possibility that it is something metabolic.  Kellen's GI was leaning toward idiopathic hepatitis and just monitoring his LFTs, but they spiked in March up into the 300s, so she said that she thinks it has to be a rare genetic or metabolic disorder that is causing it b/c she has tested for everything from a liver standpoint.

So... we are scheduled for our first geneticist appointment at Riley this month and then we have a neurogeneticist appointment in July (can't believe it takes like 5 months to get in to see that doctor).  I guess we are traveling down the path of genetic testing at this point in hopes of finding something that is causing Kellen's symptoms.  I'm holding onto hopes and prayers that it's not something devastating and that we can treat it.  Most of his symptoms are relatively mild (elevated LFTs, hypotonia, macrocephaly, and the eye episodes).  We did run another urine organic acids screen and one of the metabolites (3-hydroxyisovaleric acid) came back minimally elevated, but that could just be due to diet and not indicative of the underlying condition.  His GI at Riley said we might never find a diagnosis.  It might be a really rare genetic condition, and we'll just have to monitor the symptoms.  That would mean Kellen has a SWAN (syndrome without a name).  That's kind of tough to hear because on one hand you hope it's not something terrible that has already been discovered, but at the same time, never knowing what's going on can be hard because you don't have a prognosis and you don't have a support group of other parents of kids with the same condition.  We'll just cross that bridge when we get to it.

As of now, Kellen is his super happy and adorable self and we are just taking it one day at a time and loving on him and celebrating all of his milestones and inchstones!  I'll post any future updates we get.  Here are a few pictures of our handsome man!