A picture update!

Bathtime Fun! You can see a little bruise from one of Oliver's many needle sticks on his arm. Poor little guy is quite the pin cushion these days.

Learning more about CDG has been informative and scary. I try not to spend too much time researching stuff on the internet as the extreme cases scare me, but make me feel more prepared to handle the challenges that Oliver might face. The mild cases give me hope that maybe our little guy will be one of the lucky few.

In the meantime, while we're waiting for appts, fighting the seizures, learning about the disorder, etc we are trying to also live our lives. Going to work/school. Playing at the park on the weekends. Going out to eat. Taking advantage of the fact that Oliver is still so little and not mobile yet. He's still at the age where he will sleep through a meal at a restaurant while we eat, and Tobin is so much more well behaved than when he was a toddler. It's nice to enjoy these times in between hospital visits and health scares. Hoping the pictures and memories will carry us through the tough times yet to come. Frustration is knowing that your tiny little guy will always face struggles and not being able to do anything to stop that fact. Arming ourselves with the tools to spot difficulties and get services for them is the best we can do for him now. Enjoying him in the meantime. Like bathtime, rocking him to sleep, laughing when he spits his applesauce all over my face during a feeding, giggling when Tobin pushes on Oliver's cheeks and says "smoooshy, smoooshy". They are pretty smooshy, perhaps he gets that from me.

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.

Sleep!

Finally got a decent night's sleep last night. We put Oliver in his own crib, hoping he'd spend the first half of the night there. Of course, Mr Gassy decided he would rather be in bed with Grandma and Grandpa so they could roll him on his side and help get his little farts out. Luckily he slept in between gas attacks. He came downstairs to eat around 2:30 and was ready to go back to sleep about 3:30. We put him in the bed in between us (this is becoming a very frequent thing) and he put one hand on Jason and one hand on me and closed his little eyes. So sweet. I think I just had to put him on his side once and that was it for the rest of the night. I woke up to my alarm at 7:15, first time I've actually woken to an alarm in about 6 months!

Apparently Tobin decided to be the early bird today and was up at 5:15 and then up for the day at 6:10. Early bedtime for him tonight!

We had a great weekend. Papa Bill is in town and helping Jason with projects around the house. We took Tobin to his last music class of the season and a birthday party with his school friends. It is always nice to get out and visit with other parents and give Tobin the chance to play in new places. Sunday night Oliver was hanging out next to me on the couch and Jason came over to say something. As soon as he heard Jason's voice Oliver spit out his pacifier, got a big smile on his face, and laughed. It was the cutest thing in the world. Things don't come easy for my baby. He has to work much much harder than any other kid to do simple things, so when we see little bits of progress like him recognizing one of us and smiling, it means more than the world. I can only imagine how much I will fall to pieces when Oliver finally starts holding his head up, sitting up, crawling, or maybe even walking. I just keep hoping that all those things come for him despite the odds being stacked against him.

We have a busy week this week. Appts with both our neurologist and his 6 month checkup. Time for the dreaded talk about immunizations. Last I heard, the ped wants to give Oliver the hib, as it's not a live virus. He does agree that we should delay any vaccine that is live as well as completely eliminate the pertussis as it's known to cause seizures and they advise against it for any child with an emerging neurological condition. Still haven't heard back from EI about our next steps (should be getting a copy of the eval and getting on the schedule to start the PT/OT/ST). Still haven't heard back from geneticist's office either. But we do have appts to see hematology and gastro. Maybe the gastro can shed some light on the whole gassy issue...then again, it's likely related to CDG and there may not be anything we can do for it. If it weren't for gas, I think Oliver just might sleep through the night. At this point I'm considering a king sized bed and just keeping him in bed with us so we can doze in between his gas attacks. They took some blood on friday to compare his white counts to our last hospitalization. This will tell us if he's improved or not, and also add one more data point to compare to when he goes in to get his counts checked in early May. If things look better, he might even be able to go to daycare next week since we're losing our live in help on Wednesday. If not, we'll have to pursue a nanny or consider having Jason take FMLA if there is a chance his blood counts will go up at some point. Such a mysterious little guy.

Once I get some 'free time',. I'll post a video of Oliver eating bananas on youtube. He is doing so great on solids and seems to perk up when he gets put in the high chair. He knows the food is coming! We're trying carrots for the first time tonight. Exciting!

One day left of Augmentin!

Only one day left of the dreaded Augmentin. We got ourselves down to a schedule so that Oliver keeps both meds down and he hasn't had any vomiting in a few days. Tomorrow is his last day on the antibiotic so we'll be back to just the Vigabatrin. Yay!

Something I want to write, but don't want to write at the same time, because the moment I speak it , it will happen....but we haven't observed any seizure activity for quite some time. I think the last major cluster was April 5th in the hospital the morning before his one and only shot of ACTH. We saw some jerks without crying the day before his ear infection was diagnosed..and I think that's about it. I know that with the CDG he is likely to always have some type of seizures so I am always expecting another one to come, but the brief break in activity is SO nice. Now that I've written this they will pop back up I'm sure.

Oliver is doing GREAT with his workouts with Grandma Eunice and goes to see his favorite PT tomorrow. The therapy sessions are so good for him and me as well because I always feel so hopeful leaving the center. He is making small strides each week and it's extremely encouraging. I just keep hoping that he will outperform everybody's expectations. You would never expect this from his first colicky / cranky 4 months but he is the sweetest little baby. Always happy, hardly ever complains (unless we're rapidly shooting Vigabatrin down his throat), and even gives us little smiles and coos at us to let us know he's ready to join in the conversation.

We started solids about a week ago and the little man is learning so well. I would say he is doing just as good as Tobin did at this age, which says a lot. Oral motor skills like eating are a good indicator of his abilities in my opinion.

Tobin had silly dress up day at school this week and I posted his super cool outfit on facebook. He is doing so great with all of this and basically raising himself at this point, ha! Hopefully the summer will bring lots of opportunities for all of us to get out and about together. I think it's good for Oliver as well. We spent the day at the children's museum last Sunday and Oliver really seemed to like the sounds and lights and colors.

We are in the process of finding out if Oliver can attend daycare. Tobin's daycare said they would take him, but we need to get an all clear from the doctors since his white blood count is so dangerously low. We don't want to expose him to anything that could make him really sick in case his body can't fight off the infection. Hopefully they will retest his blood soon and give us the all clear! We meet with hematology on May 6th and will know more. Still waiting on the appt with the geneticist to learn more about the CDG and find out how this ties in to our family. Are Jason and I both carriers or is this some genetic mutation that starts with Oliver? I have a large list of questions I am carrying around. I think I add one or two a day. Once I sit down with the neurologist next week I hope to get many of them answered.

Thanks for keeping us in your thoughts and prayers. We received a really nice prayer shawl from a member of Hanna's church. They added Oliver to their prayer chain. I put the shawl on Oliver when he was napping and then Tobin tucked his stuffed frog in with him. That night, Haley decided she needed some prayers and curled her kitty butt up on the shawl to take a nap. It's getting lots of use.

Ear Infection!

Oliver was being a bit cranky on Monday and had a little fever so we took him to the dr Tuesday morning. He has an ear infection, but luckily despite being sick and having a fever we didn't see a seizure increase so that's good! He is on Augmentin which is really roughing up his stomach. For some reason the past 2 times we've tried to give him his Vigabatrin he's projectile vomited all over the place. Once his stomach is empty we've been able to get some Vigabatrin in there but we don't know if it's the full dose or if we overdosed him (hard to tell how much was absorbed before he vomited). Poor little guy. The good news is, he hasn't had a fever since monday night and he IS keeping the Augmentin down so hopefully we can figure out a way to get him all his meds without any vomiting and in 10 days the ear infection will be gone and he'll be back to just the Vigabatrin. I think a shot of ACTH would be easier to administer that is point!

Oliver had his EI evaluation yesterday, finally. Looks like they are recommending PT once a week, OT twice a month, and Speech once a month. Once his strength gets better on the PT side they'll ramp up the other therapies. Hopefully they will find a team of therapists really soon and we can get him started with the home therapy and see some improvement. They did stress trying to get him to start on solids to help with the muscles needed for speech, so maybe after this ear infection madness is over we'll slowly introduce some runny cereal and see how he takes to it. Next dr appt is 4/28 with neurology and then 6 month checkup on 4/30. Still not sure what we're going to do about vaccines but I would personally like to wait awhile to do any live ones and if we do any that aren't live, space them out a month or so so that we know if he has a reaction to a specific one. We'll see what neuro says.

in between ear infection crankiness and just being generally miserable about being sick and vomiting he did give me a couple quick smiles this morning. Always nice to see.

I ordered some really cute stuff for his new room and Jason put the crib back into a crib for him (it was a toddler bed for Tobin until Tobin got his twin bed a few weeks back). Oliver now has a mobile and musical crib toy and super cute lamp, hamper, nightlight. Check out the cocalo alphabet soup collection for really cute nursery bedding and stuff. We're going to order some giraffe decals for his room and then it'll be fully decorated. I pulled some good developmental toys out of the attic for Oliver to play with while he's working out at home. Hopefully we can find a few things that really catch his interest and motivate him to roll over or bop them with his hands!

Home Again

We brought Oliver home last night. They decided not to continue with the ACTH and there weren't any further tests we need to do at this time. Once we have our followup with the neurologist in 3 weeks we'll discuss the following things:

1. genetic testing to see if Tobin is a carrier
2. further testing for Oliver involving a skin biopsy to understand which classification of CDG he has. Right now they think it's a CDG II and probably one of the newer forms, possibly a brand new form, which would mean he is the only person in the world diagnosed with the condition. We always knew our little tater tot was one of a kind!
3. A followup to the ACTH - will we re-test his white blood counts at any point and try the ACTH therapy again or will we just keep him on the vigabatrin and hope for the best?
4. Followup EEG? - The neuro fellow at the hospital doesn't want to do too many EEGs so as not to stress him out more than needed. Since he had such a stressful night Sunday night they think that might be what caused his clusters on Monday morning.

We also have appts with a gastro and a follow-up with Opthamology.

We'll know more soon about possibly going to the mayo clinic to meet with the world's expert on CDG.

Tobin was so happy to have his little brother home, and we are all happy to be under one roof again! This morning at 5:55am, I woke up to the sounds of Oliver cooing and laughing in his bed. He did this for about 20 minutes and it just amazes me how cute and happy my little guy is. The best part I can take away from all of this is that he doesn't know that he's different. As long as he is fed and cuddled he is the happiest little baby in the world. I am bringing the flip camera to bed tonight so if he wakes up cooing again I can get it recorded!

bad news and more bad news

We entered the hospital to start ACTH therapy. Oliver went through some testing to make sure his body can handle the ACTH and he was given his first injection Monday night. THen we were told to hold off because his red and white blood counts were low. The red blood counts being low (anemia) are likely from the Vigabatrin and nobody seemed too worried, but the white blood counts being low means that he may not be able to use ACTH unless the counts increase. So he's still at the hospital and we'll know if they want to do the ACTH soon, in a few weeks once the white blood counts increase (if they increase), or never if he has low white blood counts because of his genetic condition. Yes, he has a genetic condition. They found out why he's having seizures and it's not good. It has nothing to do with the meningitis he had at 3 weeks. it's something he was born with and will always have.

Oliver has CDG: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=cdg

This means that he will have a variety of issues in life, mainly developmental delay or disability and he'll always have some type of seizure disorder plus other issues. We basically got the worst possible news because his genetic condition is so new and rare that there are no treatments for it. He will always be this way. The scientific explanation of his disorder is so complex that I can't understand it, but from what I do understand it's something in his genetic makeup and the cells in his whole body that cause him to be different from other people. So he may never walk or talk, or he could make great strides with years and years of therapy. We do know that he will never be “normal”. But if we can decrease the seizures, and help clear up his EEG for now, those will be 2 less strikes against him. Since his condition itself prevents normal development, and the seizures prevent normal development, and the abnormal brain patterns prevent normal development, the odds are stacked against him. We don’t have a lot of hope or expectations and we’ll just have to take it one day, one symptom at a time. Hopefully the drs will decide today about the ACTH and if we won’t continue with it, they’ll let us take our baby home so our family can all be together again.

Losing confidence

When I'm home with Oliver looking at how darn cute he is, I feel hopeful and optimistic. Then I get to the office and start worrying about all the what ifs and pondering the fact that the seizures keep coming despite increasing his dose every few days. I know that sometimes it takes awhile at the right dose before the seizures stop, but when will we ever find the right dose? we're almost at the max dose for his weight and this weird single spasms keep popping through.

3/31 - 8am
4/1 - 3:30am, 7am, 1:30pm.

Single spasms/seizures without any cluster activity. Does this mean he is having a different type of seizure now? is this an indicator of another problem? Is the Vigab not working anymore? I hate how this is all a crap shoot. We have to keep tinkering around to find the magic combination to stop the seizures without ever knowing if the seizures will actually STOP! I just want them to stop. and never come back.