Back from the Neuro...

So we met with our neuro today. No real results to get or anything but nice to have a face to face with the man who makes all the decisions. We talked in more depth about the CDG and further steps related to that. The general consensus is that Oliver needs more testing. The decision is up to us whether we want to go through all of that testing at Children's or if we want to book an appt with the leading expert in CDG (who is also a neurologist). He is located at the Mayo Clinic in MN and we would undergo all of our testing there. We'd still followup with our team here in Chicago but we'd have a nice face to face consultation with the CDG expert and maybe yearly visits back with him. The time in MN is no big deal but it's up to Aetna to tell us yes or no on funding the testing. Our Neuro said that the testing has to be done regardless so why not do it there. The extra cost of an office visit with the CDG expert isn't big enough to deter Aetna. He figures they'll say no the first time we ask but he's going to write letters on our behalf to try and make it happen. So hopefully that will be our next step in terms of the CDG. From what they see on the blood tests, Oliver definitely falls into the spectrum of CDG but we cannot say specifically how it will play out for him. Once we do more testing we'll either discover that he has a subtype that matches subtypes already out there and from that we can guess more about the future based on what the other patients with that subtype have seen in their journey. we might also discover that Oliver has his very own specific subtype and he is the only one in the world diagnosed with it. With that comes a bit of mystery because we won't know how it will play out for him, but it also brings hope that maybe he will have a mild case. The way CDG works is such a mystery in that it affects organs but not always the same ones. Clearly it affects Oliver's brain as he has the seizures and the nystagmus. We don't know if it's affecting other organs or if it will affect other organs down the road (that's hard to imagine).

As far as the infantile spasms, he said (and this part brought me to tears): " Oliver is doing dramatically well" and is showing great progress with this dose of Vigabatrin. He mentioned the one single shot of ACTH might have even done some good (let's hope!). So we have another EEG scheduled for next Thursday, May 6th. He said not to be too discouraged if the EEG isn't clear as sometimes it takes a little while for the EEG to clear after the spasms disappear. So hopefully that will show some improvement. We also have our hematology appt that day to learn more about his blood counts being low as well as possible ways to raise both the red and white blood counts. The results from friday's blood draw are the same as they were in the hospital earlier this month, but it's probably related to the CDG as well.

Since the blood counts are still low, we're advised not to put Oliver in daycare until we meet with hematology and then we'll find out more after that appointment. Jason will be taking the week off next week to be Mr Mom and then Grandma Eunice has generously offered to come back out for 2 more weeks while we either get Oliver signed up for daycare (with the blessing of the hematologist) or search for a nanny.

Development wise, the neuro seemed a bit concerned but mentioned that Oliver has the odds stacked against him with the IS, abnormal brain pattern in the EEG, CDG, etc. So there isn't a real way to tell why he struggles, it's likely a combo. But, we see the small improvements Oliver makes in PT each week, and hopefully he'll surprise everyone and do more than they expect.

So the next steps are to meet with Hematology, repeat his EEG, and fight Aetna to the death to get them to approve the next round of testing either here at our home base or at the Mayo Clinic. Then we'll have the skin biopsy done and learn more about CDG and what subtype Oliver has. In the meantime we keep hoping, praying, making him workout on a daily basis and surrounding him with love and kisses!

After the appointment we went to Revolution Brewing and had some good beer and good food. A nice walk in the sunshine on the way home is always a good way to finish out a day at the doctor.