ONE Week!

God has been working on Deacon, I have no doubt.

I have been nervous about typing this blog, that maybe I might jinx something, but we are elated to share this news:

Deacon has been seizure-free for a WEEK!!!!

This past week has been nothing short of amazing! Deacon has gone from having up to TEN seizures a DAY (well, actually 40 before the medicine), to NONE for SEVEN!!

See that picture above? That has been his temperament ALL week! He is full of smiles, laughs, and the light has returned from behind his eyes. I can't even explain the changes we have seen in him in such a short time.

Maybe the medicine finally kicked in? Maybe the seizures have disappeared for good? There are cases where seizures stop with no explanation of where they went, or why they happened in the first place.

We are holding our breath and treasuring every moment. Please continue to pray. God IS listening and Deacon will be a testimony of how powerful prayer is.

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.

See Us Back in 2 Months?!?

I feel like today's appointment was a waste of time...

The results from Deacon's 2nd EEG weren't even in the system, and very few results were back from his bloodwork. The doctor asked us the exact same questions the neurologist did at the last appointment regarding milestones and pregnancy history. Most questions we had were answered with "it is so different with every child," "I really can't say," or "we'll need to see test results."

The epileptologist said that b/c we have seen a decrease in spasms on the Topamax, that he would like us to increase his dosage from 30 mg/day to 60 mg/day over the next two weeks and see us back in 2 months!?!

Am I crazy, or does this seem too far??

I was thinking he would say "see you back in 2 weeks" not 2 MONTHS! When I questioned the length of time he told me that basically his schedule is full, and that if it is cryptogenic, as long as we can get the spasms down to 1 every few days, that they usually go away on there own anyways... That contradicts everything I have read online! I thought the whole goal was to get the spasms to STOP COMPLETELY!?!

He said if the Topamax doesn't work that in 2 months we will consider ACTH.

I don't feel like I am hard to please or demanding anything more than what another parent in my shoes would, but I am at a loss...I feel like we have been rushed through every appointment, and that there is no sense of urgency by the doctors to eliminate the spasms. I don't even know where to go from here?? I am totally okay with increasing the dosage to see if it works, but what if it doesn't?? We have to sit around and wait 2 months to try something else??

ACTH

ACTH seems to be the medicine we will be asking for at our Epileptologist appointment next week. My time has been spent into the early morning hours researching medical journals, IS studies, blogs, and message boards, I feel like I have learned so much about neurology and Infantile Spasms in these few "short" (hah!) days.

Typically they admit children into the hospital to begin treatment on ACTH, and train parents on how to give the injections (yes, shots...). After seeing the cost per vile of this medicine, which we found our insurance doesn't cover, I finally had to get on a message board and ask how families pay for them. Someone responded immediately and told us about NORD, the National Organization of Rare Diseases, who picks up the cost of medicine for diseases like IS. I spoke with them today to confirm, and they said that they do pick up most/ all of the cost and deal with insurance issues. You will never even believe how much each vile is...

$29,000. Per. Vile.

Insane, huh??

And people still think nothing is wrong with our healthcare, especially when our insurance conveniently doesn't cover it. But that is a whole other soapbox...

There appears to be no guarantee, but ACTH has the highest success rate out of all medications. But with the chance for improvement/success, comes many side effects:

• Cushingoid - Most children will gain weight and retain extra fluid during the time they receive ACTH. This weight may be seen with facial puffiness. The appetite increases and the children crave more food.
• Irritability with increased crying
• Decreased sleeping
• High blood pressure, heart failure
• Calcifications of kidney and pancreas
• Increased risk of infections
• Increased blood glucose
• Loss of milestones, including smiling, motor skills

Children receiving ACTH should have blood pressure, weight and serum electrolytes monitored frequently during the time they are receiving the ACTH.

From what I have read the most common is the weight gain and Cushingoid features, that are so visually startling. I have "borrowed" these photos from a couple of blogs, I hope the bloggers don't mind:


This is an adorable 20 month old girl, before starting treatment:

Here she is only 5.5 weeks in, after gaining 10 lbs., putting her at 32.5 lbs.:

Little guy, before treatment:

45 days into ATCH:

Luckily, they seem to lose the weight almost as quickly as it is gained. Here he is 2 weeks after:

And then, 5 months later:

Are we scared?

Terrified. But all these side effects don't compare to the alternative. So, we are praying this is the medicine offered and the medicine that changes Deacon's life.

Infantile Spasms

Name sounds non-threatening, right??

We only wish...

Today was Deacon's doctor appointment, and that was the diagnosis given. Infantile Spasms fall under the epilepsy umbrella, although unlike normal seizures, Infantile Spasms are connected with pretty severe developmental delays in most cases.

I found this article online that sums up what we are facing:

"Infantile spasms is one of the 'catastrophic childhood epilepsies' because of the difficulty in controlling seizures and the association with mental retardation. However, early recognition, a careful diagnostic evaluation, and proper treatment may allow some children to attain seizure control and to achieve a normal, or at least much improved, level of development. Thus, there is the opportunity to have an important impact in the lives of these unfortunate children and their families.

Infantile spasms is arguably the most interesting, but also the most enigmatic, of all the epilepsy syndromes. Infantile spasms was one of the first epilepsy syndromes described. In a letter to the editor of The Lancet in 1841, Dr. WJ West's description is as clear as any modern portrayal. He recounted that the patient had “bobbings” that “cause a complete heaving of the head forward towards his knees, and then immediately relaxing into the upright position … these bowings and relaxings would be repeated alternately at intervals of a few seconds, and repeated from 10 to 20 or more times at each attack, which attack would not continue more than 2 or 3 minutes; he sometimes has 2, 3 or more attacks in the day .” West also reported on the consequences of infantile spasms: marked developmental delay and mental retardation. Sadly, the patient who West was describing was his own son, and the letter was a request for help in treatment.

Spasms are easily missed, especially if they occur singly or in small or infrequent clusters. Other potential symptoms that parents might notice are a loss of muscle tone, loss of head control or reaching ability, loss of eye contact, inattention to sounds, lack of responsiveness, poor smiling, or decrease in alertness.


An etiologic diagnosis is very important because it can lead to initiation of a specific therapy that may markedly improve the long-term developmental outcome. In fact, some children with infantile spasms may ultimately lead normal lives, but only if they are diagnosed and treated correctly. Unlike treatment of other seizure types, there is only one goal for treatment of infantile spasms: the complete control of spasms. If spasms cannot be controlled, the child is unlikely to do well developmentally, and a 50% or 90% reduction does not provide for this possibility.

Prognosis:
Infantile spasms is associated with a significant risk of mortality and morbidity. Riikonen has followed 214 infantile spasms patients for 20–35 years and has accumulated the best long-term follow-up studies of these patients (4, 24). In her series, nearly one third of the patients died during the follow-up period, many in the first 3 years of life. Eight of the 24 patients who died by age 3 died of complications of therapy with ACTH. (Those who treat large numbers of infantile spasm patients do not see such a high mortality rate, which largely is due to improved medical capabilities.) Of the 147 surviving patients, 25 (17%) had a favorable developmental outcome with an IQ of 85 or greater. Eleven others were in the dull–normal range, with an IQ of 68–84. Thus, of the 214 patients diagnosed with infantile spasms, 31% died, 45% were retarded, but 24% had a reasonably favorable outcome. The outcome is dependent on two major factors. First and foremost is the underlying etiology. Some etiologies will lead to death or mental retardation, whether or not the patient developed infantile spasms. However, children with cryptogenic (unexplained) infantile spasms or infantile spasms that is due to remediable etiologies, such as focal cortical dysplasia, may have a normal or near normal developmental outcome if seizures are controlled. Thus, the goal of therapy is to achieve control as soon as possible, especially for children who may have the potential for normal intellectual development."

So what now??

I think we are still trying to digest everything from today. The neurologist told us we are doing all the right things with getting his glasses, MRI, EEG, hearing test, and ECI. But we still are feeling helpless at this point with another game of wait-and-see...

Here are our plans for the upcoming weeks:

• He changed the medication from the Keppra (we were unhappy with, anyways) to Topamax, which we will start tonight.
  
  
• We scheduled another EEG for the same day as his vision specialist (and our dr. was glad that we chose her because she is a pediatric neuro opthamologist) on the Feb. 24th.
  
  
• We also have an appointment on the 28th with an epilepsy specialist to hopefully find the cause, if known. (Right now from what I have read, the only explainable causes for Infantile Spasms are loss of oxygen, head trauma, or a couple of diseases he doesn't appear to have.) The neurologist said that we would also discuss with them a possible medicine, ACTH, that is given through shots.
• Lots of online research!

Thank you everyone for your prayers this far. We are still holding out hope that Baby Deacon will be the exception and can lead a happy, healthy life, and prayers are definitely welcome.