Misdiagnosis

It's NOT Infantile Spasms.

Are we thankful we got another opinion after this guy told us that it was Infantile Spasms, despite having the data to back it up? Absolutely!

Are we celebrating? Unfortunately, no.

Yesterday was a long one. We were scheduled to be admitted at 11:00am. At 10:30am we were driving to the hospital when we received a call saying they were on "orange status" meaning there were no available beds and that we would have to come the following day. I explained that we were already on our way, and that Brian and I had both taken off of work. After they made some phone calls, we were told that they would make room, but nothing would be available until 2:00pm.

My mom is watching Carson while we are in the hospital, and planned to go to the zoo, so we decided to join them while we passed the time. I am so glad we started the day enjoying the cool weather and having a great time with the boys.

We made it to the hospital, checked in with admissions and were on our floor by 2:00pm. The room was still not ready, so we waited. Some time around 4:00pm we got in our room. Deacon was so exhausted from the busy day, we were hoping he would sleep through the electrode placement. I think he was too exhausted from our busy morning and being messed with was the last thing he wanted, especially since it took over an hour for all of the wires to be attached with the extra strength glue that was used. He cried pretty much the entire hour we held him in place.

After he was wrapped securely he tried to sleep, but just could not get comfortable with the wires, and people coming in taking stats and asking questions. His huge metal crib (really?? a metal crib for kids with seizures??) shook loudly every time he rolled around making it even more difficult, and couldn't snuggle with blankets like he usually does because they need to see all of him on the video camera. To add to our luck, he also has what seems like a cold, and has been running a low fever with runny nose and cough.

He was finally about to dose off at close to 10pm when the nurses came in to draw blood and put in an iv. By that point I was drained too, and cried along with him as we held him down AGAIN to fill up 6 viles of blood and insert the iv.

Brian and I slept on the full size pull-out couch along with Deacon, who stayed on top of the covers and in full view of the camera at all times. lol

This morning we were told by the attending Neurologist that the EEG does not support the diagnosis of Infantile Spasms. They have seen 3 seizure-types since we have been here: myoclonic, atonic, and epileptic spasms. Having more seizure types make seizure control more difficult.

The information I was able to drag out of the doctor didn't sound promising. Because of the slow background on his EEG/developmental delays, it rules out the better end of the spectrum for myoclonic epilepsy. The doctors don't know what exactly it is, or the cause, because it isn't "classic" symptoms for types they have in mind, and we were even told that there is a chance we may never get a clear cut diagnosis and that at any time new seizure types could come and diagnosis could change.

They have sent the bloodwork off for more B12 testing, that we should get today or soon after, and genetic testing that will take about 30 days. So, we are continue to wait for answers. I have done a little research online and read some terrible prognosis, up to severe dementia requiring institutionalization and have forced myself to stop.

We went to an amazing service at church on Sunday and this verse has been running through my head since:

Have faith in God. Truly, I say to you, whoever says to this mountain, 'Be taken up and thrown into the sea,’ and does not doubt in his heart, but believes that what he says will come to pass, it will be done for him. Therefore I tell you, whatever you ask in prayer, believe that you have received it, and it will be yours. Mark 11:22-24

Our pastor summarized with: Don't tell God about the mountains in your life, tell those mountains about God.

So that is what we are doing. God has already tackled the Infantile Spasm diagnosis, now we are praying for another dose of bad news to be shot down by Him.

Deacon Update

Medical updates:

1) Labwork: The doctor called with results from the Methymalonic Acid Test, which gives a better indication of his B12 level. The highest end of the normal range is at 318, his was 321.

Guess what this means??

Inconclusive... What the heck! Can we not get a straight forward result for ANYTHING!?!

She spoke with the Geneticist again and they said abnormal usually is in the 1,000's, so they don't think it is the cause for the seizures. But, they want to do the test again.

2) 24 hour EEG: On the bright side, the hospital called yesterday and there was a cancellation, so they are now able to admit him a WEEK early for his 24 hour EEG. A week may not sound like much, but I could possibly be THE most impatient person in the entire world, so 168 hours sooner is fantastic! Not only that, but I am a teacher and the other dates we had scheduled fell on TAKS (state standardized test), and those are the worst days to miss.

We will also get his labwork re-done while admitted and b/c we will be in-patients, the hospital does the labs themselves, getting us the results much sooner.

Deacon updates:

Deacon has been in a great mood these past few weeks with lots of smiling, and some laughing and eye contact too. His coordination has grown leaps and bounds. He stumbles very little now and has improved at getting around obstacles.

I am trying to be an optimist in all this, but don't want to paint a false picture of how everything is effecting him.

You know how babies faces light up when they hear or see their parents? We very rarely get that. Most of the time there is no recognition in his eyes when he looks at us. It is like he is seeing us for the first time every day. He will wander around our house aimlessly and doesn't seem to notice or care whether or not we are there with him. He will let us hold him as long as we like, but doesn't initiate contact. He turns his head when we lean in to kiss him.

It is hard to see some of the milestones he previously hit disappear. Deacon was saying "mama", "dada", and "bubba" at 5 months and now is at least starting to be vocal again, but will mostly hum or make an "a" sound. He is still having trouble holding his bottle while upright, and wants nothing to do with a sippy cup (I have an upcoming blog dedicated to this topic alone).

The medicine has greatly reduced the spasms, but they are still happening up to about 10 times a day. Half the time he catches himself before he falls, but the other half he doesn't. He has constant cuts, bumps, and bruises on his face. Because of this we are looking into getting him a helmet. I know it sounds so terrible on my part as a parent, but I have really been delaying getting him one. Everyone who knows about his medical issues and then meet him are so surprised on how "normal" he looks. I don't want that to change. I don't want him to look "different." I don't want kids at the daycare to stare at him or ask Carson what is wrong with his brother. But, it is getting to be a safety issue, and I will choose that over something as stupid as vanity any day. And, he would wear it mostly just at daycare, where he typically gets injured more often because of the amount of cribs in his room to be bumped into.

Some days all of this can be a little tough to swallow.

But other days we catch a glimmer. The recognition. A laugh. Leaning his forehead against us as we kiss him. Snuggling tighter or laying his head on our shoulder when we hold him. That is what we are fighting so hard for. He is in there and he is relying on us to find an answer.

Deacon's Labwork

I left a message with Deacon's Epileptologist this afternoon to see if anything had come back regarding his labwork. A couple of hours later the doctor called with some of the results.

His Organic Acid level was elevated. Normal level ranges from 0-6; his was 14. She said that this is the second time he has had this test, the first time it came back at the top of the normal range of a 6. The high level indicates a metabolic issue that causes an enzyme deficiency preventing him from absorbing the vitamin his B12. This very well could be the culprit for the seizures and developmental delays.

Our doctor said that labwork could have errors from a number of things, for example the length of time it took for it to be processed or the sample drawn, so wanted us to get more testing done to check the validity of the results. We went TODAY for more bloodwork and the lab told us it will take 3-5 business days to hear back.

We are praying the deficiency is the cause. If so, we will be referred to a Geneticist and Deacon will be given something either to help him absorb the B12, or injections of the vitamin itself. This could mean that his struggles with Infantile Spasms may disappear!

I am trying not to get overly excited because I know that the results could come back with no metabolic connection or that this could mean a whole other set of issues. But I am hopeful that this could be the answers to our prayers.

2nd Opinion

What a difference a doctor makes! We didn't find out news that was any more optimistic, but we at least felt heard, informed, and not rushed.

Our new Epileptologist gave us insight on the reasoning behind decisions that have been made, and also had some completely different answers to some of our questions than the previous Epileptologist did.

First, they aren't 100% sure that it is Infantile Spasms. They appear to be because of the way his body startles when he has one, and the multi-focal spikes on the EEG, but they have not caught an actual spasm on the EEG. (We didn't even know this!) The muli-focal spikes are how his brain normally looks when not having the spasms (a pattern for "normal" brains are just waves, not the spikes). But, spasms typically come in clusters, not single spasms like he has, and usually show hypsarrhythmia on the EEG, which his hasn't (maybe b/c they haven't caught a spasm on the EEG??). She said that if it is Infantile Spasms, it isn't a typical case, and doesn't necessarily mean better or worse news...

If it isn't IS, it may be Myoclonic Seizures/Epilepsy, which from what she said, seems to have a similar prognosis as Infantile Spasms. She said the seizure's outward appearance is very similar to to IS, but the EEG looks different. (I tried to do research on this, but there are so many different types, it is hard to find definitive information for the general term...)

So, as of now, our main goal is to get a definite diagnosis from an EEG that actually catches a spasm in action. To do this, they will admit Deacon into the hospital for an EEG lasting 24 hours. It looks like the first opening they have is in April, but they will call this week to confirm a definite date.

Depending on the diagnosis, we will address treatment options. The reason they did not immediately put him on ACTH, is b/c of the absence of the hypsarrhythmia (hyps). She said it is protocol to use that only when hyps are present due to the small success rate in cases w/ no hyps compared to the terrible side effects from using the medicine. (Could the other dr. not have told us this??) For now, she is comfortable with the Topamax prescription we are on, and agrees with the increase in dosage.

She also ordered more labwork to be completed to look at his metabolism and make sure it is working properly; Quest told us it takes 4-6 weeks to get these results, as well as 6-8 weeks to get the genetic results we already had done.

The Epileptologist gave us more information on treatment options. She said about 33% of people with epilepsy do not respond to medication, and usually after 3 different medications are tried with no seizure elimination, the success rate is about 1% for additional prescription trials. Because Deacon took such a small dosage of the Keppra, she said that won't count as a trial, so the Topamax he is on now will be considered his first.

If we get to the point where we have tried 3 prescriptions that don't work, we will then discuss brain surgery. The majority of this problems are coming from the right part of the occipital lobe, so brain surgery would most likely entail removing that part of the brain. The removal would cause his left vision to be eliminated (right side of brain controls left side of body). Both eyes would still work, but he would have no vision in the left direction. The other 2nd-line treatment option for the seizures is the Ketogenic Diet (very similar to Adkins, but everything must be measured, weighed, and there is NO cheating for it to work). This is basically the last resort, if all else fails. It has a decent success rate, but is hard to follow, especially in small children due to no flexibility in meal options.

We already feel much better to be working with someone who is on the same page as us, and Deacon liked her too! Our next appointment with her depends completely on the results from all of the tests we have coming in.

Deacon's EEG

One of our concerns that we shared with Deacon's pediatrician was that he startles a few times throughout the day and there will be nothing like loud noises that cause it. If he is sitting or standing when it happens he will usually fall forward for a couple of seconds. He referred us for an EEG to test for seizures.

Today Deacon and I went to Texas Children's Hospital for his appointment.


An EEG is the test where they stick little padded wires all over the scalp and test brain waves. They had Deacon lay in a bed with me and a bottle while they applied the wires. Then we laid still for about 30 minutes while they did their testing. At one point they flashed lights at him at different speeds to test his reaction. He did amazing and hardly moved or fussed.

When the test was over the technician came back in.

He said that during the test Deacon "startled" one time and he is 90% sure that it was caused by a seizure.

The neurologist was looking at the test and should be speaking with our pediatrician and hopefully we will get more information tomorrow like what might be causing them and medication for him to take. The MRI on Wednesday should also answer more questions.

We, of course, are devestated that the glasses aren't going to be the fix-all to our concerns. I'm terrified that this is the beginning of a list of medical issues for our baby. But, I am faithful and believe God isn't done answering prayers for Deacon.