Quick Friday Update

Oliver has been having increasing cranky episodes, getting worse and worse each day. We are thinking it's both gas and reflux because he'll be screaming in pain while passing gas but also arching his back and then is soothed by the bottle (classic reflux symptom). We're feeling like our colicky 2 month old is back and pretty exhausted by it all. He has been on a liquid only diet since recovering from his stomach bug and I think that's contributing to the reflux while the ketocal formula as his main source of food is contributing to the gas. We're easing him back into solids this weekend hoping that helps both the gas and the reflux. I've also picked up a bottle of mylanta, some gas drops, zantac and more miralax. $45 at CVS and I feel like I've got an army of gas/burp fighting materials! Here's hoping for a better weekend on that front.

Good news from the Epilepsy Clinic, Oliver's blood tests are all back and nothing looks off, he's tolerating the diet well. His blood ketones were 3.2 which means he's in ketosis, but they say they see best seizure control at the 4-7 range. This means we will be able to go up on the ratio and he'll be moving to 3:5 to 1 as soon as the dietitian changes his meals in the ketocalculator (the online tool we use to calculate his meals and snacks). This gives us the weekend to work on getting him back on solids and 'real food' before adjusting his diet with even more fat, so the timing is working out well.

I received a note confirming what I always knew in my heart....Oliver is one of a kind. A note from the assistant in the lab that's doing all of Oliver's CDG investigations:

"Oliver has what we call a "Mixed" type of CDG. This is when a patient has a combination of a type I and type II transferrin pattern. It is very rare and the genetic cause has not been identified. Because of the rarity, we have to use more comprehensive and complex genetic analysis.....simply put we have to do a version of whole genome analysis. (referred to as Exome sequencing)
It is only within the last year that this technology has become more available and more affordable to research labs. Currently our lab has 7 cases that are "Mixed" type, but interestingly Oliver is the only one with any type of neurological involvement. All the other cases only had liver problems.
Oliver's DNA has been submitted for Exome sequencing as of Monday. I cannot give you an exact time frame, but I will be certain to keep you posted. "

So basically, out of the 7 cases of mixed results, Oliver is the only one with his specific set of symptoms. This means there is no real prognosis for him as there aren't other patients to compare him to. This is good because it allows us to hope that he has more potential than he's shown us...and bad because we will never know how best to prepare ourselves for what to expect down the road. We will be sending his medical records/history out to the lab in California, along with DNA samples from Jason, Tobin and myself to further assist the team in typing Oliver's DNA. From what I've read this can takes months to years so we might not have an answer right away. As with everything we've been through in the past year....we need to have patience.