Home Sweet Home

well we are back from Mayo. It was a long trip but it was great to see so many family members while were in Minnesota. Tobin had a great time with his cousins and visiting Grandma Eunice and Papa Bill and staying at Aunt Lisa's house. Our hospital schedule wasn't too intensive and Jason and I even got to sneak away for a date night at the Twins/White Sox game.

Will try to update about our medical appts but there is lots of info. It's all a blur as there was so much discussed during the time but we basically walked away with the realization that Oliver is severely affected by both the IS and CDG so we're just going to start making arrangements going forward for living with a disabled child. Have our PT from EI coming tonight and we're going to talk about getting the process started for a bath chair and feeding chair for now and then look into adaptive strollers that will grow with him. We'll try to start putting away a few bucks a day toward getting a roomier vehicle to accommodate a bigger /more supportive carseat and adaptive stroller, etc. We are going to look into insurance and other organizations to try and help fund some of the equipment Oliver needs and then try and buy some of the equipment that we think would help him but that insurance won't pay for.

Oliver's skin biopsy went well and the stitches can come out next week. I wasn't able to watch it happen as things like that make me queasy but I was in the room and Oliver didn't feel any pain or have any problems with it. We'll have initial results in about 6 weeks and then if his cells don't match any of the known CDG patterns they will try to map his DNA a bit further and isolate the gene or genes that have the mutation. This won't really help Oliver as there aren't any treatments currently, but it is important for further prenatal testing for me or if Tobin has children some day. Drs will be able to test the baby and know for sure if he or she is affected by CDG. Tobin has a 50% chance of being a carrier, 25% chance of not being a carrier. We already know he is not affected. And maybe, if someone , someday discovers a treatment to help CDG patients with Oliver's specific subtype...we'll already know his type and we'll be able to start treatment right away. It's a tricky situation as there really isn't funding or a big push to research CDG and treatments so I won't get my hopes up that there will be treatments one day. For now we just need to treat the symptoms of the disorder.

The good/bad news is, the spasms/seizures seem to be the worst of his CDG symptoms, so we really only have to focus on those. It sucks that he has seizures that are so hard to control but we're feeling grateful we don't have any other major health issues to tackle right now. So we're just going to be very diligent in finding the right treatment to try and get them under control before they progress into another seizures type. That's really our only hope at the moment. We'll just be aggressive regarding the seizures and keep going with as many therapies as we can afford.

We are able to do Ketogenic diet even though he has CDG because he hasn't shown to have any issues with a variety of foods yet and they think his organs will hold up well with the diet, so that will be our next treatment if this larger dose of Vigab doesn't work. I haven't written it off yet, but we're almost a full 2 weeks into the increased dose and he's still having spasms although yesterday's cluster was so subtle and quick that no one would have noticed if I wasn't sitting and staring right at him. Maybe, just maybe, they're lessening in intensity...but we'll see. Our little guy always surprises us, just when we think he's seizure free, they come back with a vengeance. If Keto doesn't work we'll try ACTH and then move on to 2nd line meds from there. I'm a bit torn as to which to do next (Keto vs ACTH) because when Oliver did have one single shot of ACTH he had a seizure free month immediately following which leads me to believe it just might work. But both the epileptologist and the neuro at Mayo said they would try Keto first as it's got less side effects and higher chance of working than the ACTH. Always hard to make this decision when you feel like you're wasting precious time trying to get the seizures under control, but I am going to have to learn patience in order to live life with a severely delayed baby so this is just the first step.

Trying to understand more about CDG we've been googling and trying to find an explanation that is helpful for people (like us) who are not bio-chemists. My mom found this one and the answer is very basic but understandable:

http://publications.nigms.nih.gov/chemhealth/chemist_freeze.htm


Oliver handled the trip very well, with the exception of an awful non stop cluster of spasms on the car ride up to Minnesota. We had to give him a full clonazepam to get them to settle down but aside from that he has been napping great and generally happy. He is even trying harder to roll over. the past few days he's been on his back and really arching his back and turning his head and upper body. once he coordinates his chubby little leg and gives it one swift kick he is going to roll right over! So maybe in the next few months. Perhaps instead of holding his head up by his first birthday, he'll roll over instead. His therapist has recommended using some of these:

http://www.spioworks.com/

we'll see if the squeezy input from the clothing will help him have better awareness of his body.

Also on my wish list:

a Wingbo swing: http://www.wingbousa.com/
some type of adaptive swing for indoor or outdoor use: http://www.especialneeds.com/tfh-high-backed-swing-seats.html