Don and I met in 2001 on a blind date!  We married a year later and I left my career in TV broadcasting in Seattle to move to Clark County, Wa. where Don's job is located and where his rodeo world was.  Now we're back in Seattle (on the Eastside) for good.  Cody Graves is our beautiful boy born 11/26/04. I thought his 11 pound birth weight would be the biggest challenge I had to contend with in his babyhood...boy was I wrong. Right out of the box Cody was diagnosed as "failure to thrive" - he just wouldn't eat! After 3 months of fighting his weight loss, he was diagnosed with GERD (acid reflux) and nasal regurgitation (when he tried to swallow, the milk went up into his nose.) The reflux was so bad it had burned his esophagus. We put him on Prevacid which helped and started thickening his fluids which also helped. For 3 months we adjusted the Prevacid and thickener until he finally could go a day without screaming in pain because of the reflux. The first 6 months of his life were spent managing his reflux and attending pain - with Dr. appts. at least once a week.

Then a new and far worse condition appeared. The week he turned 6 months old, I noticed a weird "crunch" while I was feeding him. About 5 times, rhythmically, he'd crunch his abdomen and let out a short breath. Looked just like reflux or gas so I dismissed it. One week later Cody did the same thing with my husband. I made an appt. with our pediatrician with a videotape of these weird crunches. Mind you, they were almost undetectable (see video on this sight and you'll be amazed at how hard the seizures can be to spot.)  The seizures grew in severity over time - but in the beginning, they were very mild.

 

I went to our Pediatrician apologizing for being a panicky mom - but wanted her to see the tape. She said it was probably nothing and to go ahead on our out of town trip as planned. Then (thank you, Lord) Cody had a huge seizure right in front of her - as dramatic as one has ever been. She called a pediatric neuro and got us an appt. the next day. That night we wound up in the E.R. after Cody did one of these "crunch" clusters for 5 minutes straight.  (see video page for an example.)

We began our week-long stay at the hospital that night where a Cat Scan and MRI turned up normal. But Cody was now having a cluster of 20 seizures every hour. The next day they did an EEG and to our shock and horror...it showed chaotic fireworks in his brain (called hyppsarythmia) pretty much all the time. It was 2 torturous days later that they narrowed the diagnosis down to infantile spasms. At first we thought "infantile spasms" - sounds pretty harmless! Spasm doesn't sound nearly as bad as "seizure" - and "infantile" must mean they're outgrown by the time they're toddlers! That night at the hospital I did a google search for 'infantile spasms' and we haven't stopped crying since.

It's considered a "catastrophic diagnosis" and hits babies between 4-7 months of age typically. 95% of all babies wind up retarded (click on "info" for more in infantile spasms.) That was the news we grappled with for that first week in the hospital. Cody was deemed "idiopathic" which means "no known cause" - he had been developing perfectly up to the onset of the seizures.  Conversely, "symptomatic" children have a "known" cause of infantile spasms (brain damage, metabolic disorder, etc.) and often have delayed development prior to seeing any seizures. 

We started ACTH steroid injections in the hospital (standard course of treatment for i.s.) and went home - where we had to inject him twice a day OURSELVES for 6 weeks!! His seizures went away completely for a few days and we prayed continually for Cody. But the seizures returned and the steroids weren't working. Not only that, they had horrible side effects...high blood pressure...voracious appetite..."cushings syndrome" which made his little face and body puff up (see "Puff Baby" in the gallery section)...and an extremely low immune system. We weaned him off the steroids and added depakote which also didn't work.  Then we tried Vigabatrin, Keppra, Zonegran...all with no success.  Six months after diagnosis, Cody was still having seizures...about 15 clusters a day each lasting at least 5 minutes.  We flew to Detroit on Oct. 9th to meet with the nation's top pediatric neurologist to see if the seizures could possibly be caused by a brain lesion - thus requiring surgery. A PET scan revealed no lesion - and no hope for surgery.  But we did find out that his brain was doing something weird metabolically - he has a bi-lateral temporal lobe abnormality.  In other words, the temporal lobe of his brain hypometabolizes glucose (which is what our brains run on.)  Dr. Chugani believed the abnormality was due to a genetic flaw that we will probably never discover.  And it could get better, or worse, over time.  He became seizure free that Jan & Feb.  In March, seizures returned but they were not the clusters we'd known.  These were "stiffening" seizures brought on by noises that startle Cody.    They're called "startle seizures."  We grew SO tired of medicines and their horrific side effects that we weaned Cody off of all anti-seizure meds.  This is a controvercial decision that most neurologists would not recommend.  We felt it was the best decision for us.  Cody was med free about 4 months had the exact same amount of seizures as when he was on 3 high powered anti-seizure meds.  But eventually they began to gather steam.  They began to come 8-10 times a day and were more severe than before - so we started the ketogenic diet in August of 2006.  That didn't work either and since we've tried more drugs and are currently on a combo of topamax, lamictal, and clobazam.  Cody had a VNS implanted in August of 2008 as well.  We are still waiting to see ultimately how it affects him.  

Although we were told he may never walk, Cody is walking like a champ!  At 4 years old, he goes to physical, speech, occupational and autism therapies every day of the week.  We have no idea what will happen to him developmentally since he is still seizing.  He circulates through many negative and self-injurious behaviors like biting, eye poking, self-induced vomting (rumination syndrome) and more.  Daily life is tough - just getting his coat and shoes on is an ordeal.  Cody is extremely loving and loves to walk up and wrap his little arms around your neck and hug you.  He makes "okay" eye contact when he wants to but often is in his own little world.  He is non-verbal.  He doesn't do much meaningful play - books are to be chewed on.  Crayons are to be chewed on.  Toys are to be chewed on (you get the picture...)  He pays attention to toys for about 10 seconds then moves on.  He loves things that vibrate, have music or lights though - those tend to hold his concentration longer.  He loves deep pressure and craves constant physical and mental stimulation.  If you meet him, he'll most likely turn his head to the side and put his ear up near your mouth - hoping you'll make some fun noise in it.  Then he'll flip his head around and let you make that noise in his other ear too.  He can use about 12 different signs including "eat" "more" "all done."  Through intensive ABA and Floortime therapies he's learning to match, identify colors, roll a ball to Casey, use a marker and more.  He is so darn cute it floors us on a daily basis!

On Thanksgiving of 2008, after 4 years of testing to find out the underlying cause of Cody's seizures, gastro issues, developmental delay and autism....we finally got the news that it is all due to Mitochondrial Disease.  Mitochondria are responsible for all energy production in the body.  Cody has severe defects in his mitochondrial make-up.  The biggest 'energy suckers' in the body are the brain and muscles.  So for Cody, those are the areas that don't get enough energy and are therefore dysfunctional.  There is no cure for mitochondrial disease and it is considered life threatening and often fatal.  Treatments are simply supplementation with things like CoQ10, Creatine, and carnitine.  Mitochondrial disease has really only been studied for the last 20 years so it is a relatively new disease and not that much is known about it.  Now that we know Cody is a Mito kid, it helps us pace his energy distribution throughout the day - allowing for lots of breaks and downtime.  There are tons of interesting sites on mito disease - my favorite is www.umdf.com.  Cody's was discovered through a fresh muscle biopsy.