Wednesday, May 25, 2011

No Brainer???

This update has been a difficult one to put together...we have so much information to share, all pieces of a very large puzzle.  At the same time we are trying to keep pushing forward to make sure Will and Jack are getting the day to day care they need, as well as planning and scheduling the next steps in Will's treatment.  

We'll start with the short story - Will has been approved for surgery at the Clinic.  We can do it whenever we want.

Now, for the long story.

Picking up from our last post, Will had an appointment in Detroit on May 6.  The neurologist in Detroit agreed with the Clinic's opinion that there is a subtle malformation in Will’s left temporal lobe that can be seen on the MRI.  This was a relief in a way, because although our doctor at the Clinic is confident that there is something on the MRI, she has mentioned several times to us that her opinion is “controversial” with some of her colleagues at the Clinic.  It was good to hear another one of the few experts on infantile spasms agree with our primary neurologist.  However, the Detroit doctor felt that Will's seizures appear to be too "generalized" (coming from all over the brain) and there was not enough of a "focus" (a localized area where the seizures originate) to justify surgery at this time.  He felt that it is likely Will would need to have surgery in the future, most likely to remove the malformation in the left temporal lobe, and possibly occipital and parietal lobes as well.  He recommended trying the Ketogenic diet (which we were already planning on trying), as well as another medication (Zonegran) if that fails.

So, we left Detroit with mixed emotions.  We were happy that he was as impressed as he was with Will’s development to this point and his abilities.  We were disappointed to hear that he felt surgery was not an option at this point.  We have said this so many times, but right now, we simply don't know what to wish for when it comes to surgery.  If he has brain surgery, he will have a part of his brain removed, and along with that comes some limitations.  If they have to remove the occipital or parietal lobes, they will sever the optic nerve, which means that Will will lose peripheral vision in both eyes.  While he would likely compensate for that because of his young age, he would NEVER be able to obtain a driver’s license.  This is assuming the brain surgery works.  If it doesn’t work, we will have removed a significant portion of Will's brain, and yet not put an end to the onslaught of seizures that plague his development.  Of course, if we don't go the route of brain surgery, then what?  We pray that a medication will work, but if that happens, or if the Ketogenic diet works, there is a strong chance of a relapse.  We have been told that right now he is the best age for surgery to be successful because his brain is still developing, but we want to make sure the choice is right.  Very, very difficult decisions to make.

Two weeks later on May 17, Will's neurologist presented his case to the surgical review board at the Clinic.  This was a team of what we were told was about 40 doctors, nurse practitioners and specialists in a room together, all focusing on Will’s case.  After discussion, Will was approved for surgery at the Clinic!  However, there were definitely some reservations.  It was not an automatic “yes he should have surgery” all around the room, but when it came time to vote, everyone approved it, and nobody said no. We were not allowed to attend, but after the conference we met with our neurologist as well as with the doctor who will perform Will's surgery, if we go that route, to discuss their opinion.

We were very grateful to have the knowledge from the visit in Detroit before this day.  Not knowing whether the Clinic would approve or deny surgery, having the discussions with the doctor from Detroit and digested all the possible scenarios in our own minds before the Clinic’s surgical conference was extremely valuable.

We asked the doctors at the Clinic about the lack of focus of Will's seizures on the EEGs, which was the reason why the Detroit doctor said to wait on surgery.  Will's neurologist at the Clinic said that they discussed this, and in their opinion, the cause of the seizures is the left temporal malformation.  She felt that because of his age, it is likely that his seizures won't show a strong focus, and the irregular brain activity from the seizures is giving rise to more abnormal activity which is originating from other areas of the brain.  They feel that if we wait for a more clear focus to appear, we might be waiting for a long time, and because of his age and the risks of brain damage if the spasms continue, we can't wait that long.

No one can know how Will's development will progress once the surgery is complete, IF we choose to do surgery.  We have never read about a child who took steps backwards in development after surgery, and there are a lot of parents we read about whose children who had surgery.  Most marvel at the steps forward in development after surgery.  The doctors at the Clinic feel that he will do well after surgery.  The Detroit doctor felt that surgery would be in Will’s future as well, although he recommended waiting until the exact location becomes more clear.

The path that was suggested by the Cleveland and Detroit doctors alike is that we will increase Vigabatrin (Will’s current med) one more time, although it is not working.  Once that fails, we will try the Ketogenic Diet, which can be described as an extreme version of the Adkins diet, with exact portions each day and no cheating.  Essentially, the Ketogenic diet causes the body to go into ketosis, burning fats instead of carbohydrates.  It has very promising results, showing improvement in seizures in about 30% of patients, and complete seizure freedom in about 10%. It was originally developed in the 1920’s when doctors realized that seizure patients did better following periods of starvation, but then lost popularity to conventional drugs.  Will is going to be hospitalized for 3 days in mid-June to begin the diet.  If this fails, we will have no choice but to seriously consider surgery.  We expect that we will be face to face with that decision at the end of summer.

The challenge with infantile spasms is that no two cases are the same.  There is no standard procedure for a doctor to follow for each case, which makes treatment more challenging, and requires a lot of effort and constant evaluation and re-evaluation by those providing the treatment.  Also, the condition is so rare that there aren't a lot of people around who are dealing with this as well.  We have found the support groups on the internet to be so valuable, because that is the place where all of the parents can exchange notes.

One more good thing - since Will is off of ACTH we were given the green light (well, more like a yellow light) to take him out in public, as long as we are careful to minimize his exposure to germs.  We also finished weaning him off of Topamax, so we are seeing his personality bounce back even more.  Summer is just around the corner, and we are hoping that for the next few weeks we will be able to just be ourselves and enjoy our family, friends and some nice summer weather.

Thursday, May 12, 2011

Last shot of ACTH!

Last shot of ACTH!
Will got his last shot of ACTH today!  Yippee!  Woohoo!  We are so excited to be able to eliminate at least one drug from his arsenal of medications!  We think our insurance company is pretty happy about this too.

This could not have come soon enough, as last week we noticed that he is beginning to grow peachfuzz on his upper lip.  The thought of sending our 22 month old into early puberty is a bit disturbing, to say the least.  Of course, it all would have been worth it IF it worked!
Will's morning meds

Hallelujah!  Praise God!  We are done with this medication and its awful side effects!

Wednesday, May 11, 2011

Throwing Darts at the Wall

Will having fun in his swing
It looks like we are a bit overdue for a blog update...things have been hectic, as you might expect with 2 kids and now that Spring is here, a lawn that needs mowed, soccer games to attend, fish to be caught at the lake, and a whole bunch of doctors appointments to squeeze in in between.  We have been trying to enjoy life as much as possible despite all that is going on around us, and despite the fact that we cannot take Will out in public.  We have had some really nice spring weather this week, which certainly helps!

Dan and Jack at Jack's first soccer game
We met again with Will's metabolic neurologist at the Clinic to follow up on possible causes of Will's optic nerve damage.  He suggested that, although unlikely, it could be possible Will might have a mitochondrial disease.  The only way to test for this is to surgically remove a 1 cm section of Will's thigh muscle and do a biopsy on the tissue, and even after doing this, the test is inaccurate at best.  However, there are some additional blood tests that can be done first which would indicate whether Will has additional factors that would justify performing the more invasive testing.  For now, we have decided to hold off on the muscle biopsy until we have more data, especially because Will simply doesn't have the typical characteristics of mitochondrial disease, such as low energy levels or lack of muscle tone.  The opthalmologist we see stated that the optic nerve damage could also be caused by a malformation of the brain, which seems like a more plausible theory given Will's history.

At the end of last week, we travelled to Detroit to meet with perhaps the most well known specialist on infantile spasms in the world.  He was very upfront and open, and answered our questions in a very straightforward manner.  It was nice to get a "fresh" opinion.  When he walked into the room, he was amazed at how well Will is doing developmentally.  He said that based on his review of Will's PET scan, he wouldn't have expected him to be able to even hold his head up, as his brain activity is so slowed.  Even though it might be a bit paranoid, we have decided to wait to blog-post his opinion on surgery until after we have the opinion from the Clinic, because we don't want to unwittingly bias their decision since we know of several people at the Clinic who do read this blog.

We are starting to understand that not only does Will have a unique disorder, but Will is also a very unique case.  Of course, with infantile spasms, no two cases are alike anyway.  We have met with countless specialists at the Clinic and now a well known neurologist in Detroit who are all extremely experienced and knowledgeable, and yet we feel as though they are all scratching their heads to figure out how to best help our son.  Our past experience with medical issues have always been simple and clear cut.  You get a headache, you take some Advil.  An ear infection, maybe some antibiotics.  There was always a cure.  Dealing with intractible epilepsy is nothing like that, and we feel like we are just throwing darts at the wall and hoping something sticks.  Not a comforting feeling when your son's entire future is at stake.

Will's surgical conference at the Clinic is scheduled for next week, and after that they will give us their opinion as to whether they feel Will is a candidate for surgery.  We have no idea what they are going to say, and we're not entirely sure what to even be praying for.  Obviously, if surgery will help him, then we want to do whatever is best for little Buster Beans, even if that means removing a portion of his brain.  If surgery is not likely to help him, then we don't want to take such an irreversible step.  The problem, of course, is that you can never truly know if brain surgery will work until after it is done.

Buster waking up from a nap
We are still not seeing any results from the Vigabatrin.  Will is having about 10 episodes per day right now, and each episode lasts between 4 and 8 minutes...which is a lot when you consider that each episode contains 30-50 spasms or seizures.  We are going to begin increasing his dose of Vigabatrin this week, are still winding down with the ACTH, and soon we will get to wean Will off Topamax.

We have been doing a lot of reading about a non-drug treatment option called the Ketogenic diet that has promising success rates in infantile spasms patients for whom traditional drug treatments have failed.  Johns Hopkins is now using the Ketogenic diet as a first line treatment for infantile spasms.  It is basically like an extreme version of the Adkins diet, very high in fats and low in carbohydrates and protein.  All food must be carefully prepared and measured, and Will would actually have to be hospitalized to begin the diet.  Given all the drugs that we have tried and failed, the Ketogenic diet has the best chances of success of any non-surgical option available to Will.  We are planning to discuss this with the Clinic at our appointment next week.  Regardless of the decision on surgery, we think this may be worth pursuing.