Neurology Update + Questcor Soapbox

We had our neurology appointment this afternoon and it turned into our usual 2-hour marathon of what has been happening with Mira and trying to determine where to go next. Neurology at Children's Mercy is going through some staff transition over the past few months but fortunately, our neuro is still there.

First, Mira's Biotinidase Deficiency labs, drawn from July 2006 (I can't seem to get my dates right - thinking it was May 2006) were normal. I really just wanted to make absolutely positive that we had not overlooked something so easily treatable.

Second, our neuro gave me a briefing on MTHFR and basically said that based on her labs, the likelihood of her having some sort of connection to such a genetic issue would be slim and none. I ask dumb questions because I am not a neurologist; nonetheless, it doesn't hurt to ask.

Basically, we are going to do some minor tweaking with the diet and continue with it. We are also going to start weaning her off of Lamictal. Our neuro said there is no reason to continue ineffective medications, so the less the better. We will wean her off of that first, then look at weaning Zonegran. Perhaps once she is off those medications, we will see how effective the diet is and just take it day by day. We area also considering Vigabatrin again, but we will cross that bridge when we get to it.

After an exhausting day, we met up with friends at Avelluto's for a carb-fest-romper-room dinner. Seven kids, seven adults and none of the mess to clean up. Thanks Avelluto's!

On a side note, Questcor Pharmaceuticals, the manufacturer of ACTH (which is the first line of defense against IS and used for MS as well) announced this week that they have decided to raise the price of a vial of ACTH from $1,000 to over $23,000 in an effort to stay 'profitable'. This absolutely makes my stomach turn. For so many children and families, ACTH is the first line of defense and often the only medication that helps combat Infantile Spasms. It now has been put completely out of reach for most families without insurance. Mira did ACTH and had we not had insurance, her 4 week trial would have cost us around $5,000 for the medication alone. It will now cost over $100,000 for a child to go through a typical round of ACTH.

I will end my soapbox on this: something has run completely out of control in our health care system so much so that it is just surreal to me. The cost of medications, therapies, testing, and hospital visits for Mira would have bankrupted us in about 15 minutes. Praise to God we have good insurance. We now worry only about lifetime caps. It saddens me to hear so many families on the I.S. message boards wondering if they can afford to treat their child or what alternative(s) they might have to pursue to get help, both medical and financial. It seems the new corporate pharmaceutical motto is: 'how much are you willing to pay for something that might save your life - in other words, how much is your life worth to us?' It truly sickens me how bad it has become.

Neurology Appointment Tomorrow

We are gearing up for another neurology appointment tomorrow around noon at CMH. I usually email our neurologist prior to our appointment, just to get him thinking about what we want to discuss.

I have been trying to get Mira's results from a Biotinidase Deficiency (BD) screen she had in May of 2006 and to get our neurologist's thoughts on Methylenetetrahydrofolate Reductase (MTHFR) which is a genetic defect that causes the body to not properly process folic acid. I am bringing up the results from her past BD screen to make sure that the proper test was performed and to discuss the results with a metabolic geneticist I have been corresponding with in Detroit. At the time of the test, Mira was on multiple medications and we were in the process of switching neurologists. Both deficiencies are sort of long-shots in terms of Mira's condition, but fairly easy to detect and diagnose through screening. Missouri happens to be one of the few states that doesn't perform newborn screening for BD. MTHFR is detected through genetic testing. Some of her past labs might some insight into potential folic acid issues.

We are planning on also discussing medications and give neurology an update on how the diet is going. Mira did have some decent days (her 1 seizure-free day) and a couple days where we have only seen one seizure per day. Better than a few weeks ago!

A Seizure Free 12 hours

Mira has not had seizure free day in a long, long time. Today was her first. She was in a really good mood all day too. I cannot tell you how refreshing it was to see her have such a great day.

On another positive note, the seating company dropped off her Manatee bath seat today and it was like a dream. The chair was donated to the company and is brand new. It is adjustable, flexible, lightweight, and can grow with her. I was so happy to throw away her broken down baby 'sling' tub, that was five sizes to small for her. She was so much more relaxed in the Manatee and bath time was a breeze tonight. No more back pain and hunching over for Daddy!!!

Ahhhhh.....................Barf!

Nothing spells fun like spit-up and vomit. For some reason, over the past few days, Mira has been spitting up a lot. We feel like we have finally started getting into a groove with the diet over the past week, but perhaps the full-swing diet is making her nauseous and creating stomach issues for her. We were initially having trouble finding snacks for her, but stumbled on the Atkins Shakes, which have only 1 gram of carb. She plowed through an entire 8 ounces in one sitting the first time we gave it to her. I suppose she is tired of all of the flavored waters.

Her days over the past week are hit or miss. Some days she does pretty well and even laughs on occasion if Sarah tickles her in the right spot. Other days, she is irritable all day, perfecting her LGF (Low Grade Fuss) and nothing seems to help her. Good days 2 seizures; bad days 7 or 8 seizures.

We added 300mcg of B12 and 400mcg of folic acid to her diet, since many AEDs (anti-epileptic medications) tend to deplete these vitamins in the system.

On a side note, Sarah and I escaped to a concert on Monday night, seeing Crowded House at the Uptown Theatre here in KC. We haven't been to a concert since Richard Thompson, which was 5 years ago. It was surprising to hear Neil Finn and company really 'rock out' - some of their newer material drifted off into some harder edge stuff that I wasn't expecting. Liam Finn (Neil's son) was one of the opening acts. His son?! Yes, they are getting old.

On another side note, what makes my day is visiting Sarah's new favorite site here. Cats are funny.

Ketocal Woes

A year ago, when we tried to start Mira on the Ketogenic Diet, we were given a sample of Ketocal for her to try before they were supposed to admit her to Children's Mercy. She tried it and liked it just fine. Little did we know, Ketocal is actually made out of GOLD. Ketocal is very expensive and the irony is, insurance typically does not cover it (including ours).

Now that we have her on the Modified Atkins and need to use it potentially as a supplement to her diet, we are trying to get Mira's neurologist to write a letter of medical necessity to our insurance company. Since she won't be on it exclusively, we shouldn't be going through it like we do with say, sour cream (lately), but it still doesn't really make sense to me that insurance companies view Ketocal as the equivalent of SlimFast.

Anyway, Mira had a really rough day today, have a half-dozen seizures or so. She was pretty irritable all day and wouldn't eat much. We think her stomach has been bothering her. Tomorrow is another day.......

Dietician Visit

We had a visit with Mira's dietitian for some guidance this afternoon. We were able to get some recipes and other information to help us successfully move forward with the diet. We haven't been able to hit the 10 gram limit lately, since our meal planning with Mira has been difficult.

One of our trouble spots with the diet thus far also has been getting Mira to drink enough fluids, so we will be supplementing her fluid intake with Ketocal. We are going to start preparing meals in advance, more within the 4:1 ratio of classic Ketogenic Diet, the difference being in that she can eat as much as she wants, so long as it is within the ratio and/or the 10 gram limit.

There will be a considerable amount of tweaking with the diet over the coming weeks.

New Labs

Mira had labs drawn again on Monday and the good news is that her cholesterol dropped 7 points and her lipid levels came down some too. Her alkaline phosphatase level(s), which were 1148 last time, dropped down to within a normal range.

So, we are going to continue with the diet for a while and see where it takes us. We will also continue the B6 indefinitely.

On a side note, we were sad to hear that Dr. Graf's nurse, Jana, is leaving neurology and going to another department within the CMH system. She has been a tremendous help over the past 2 years with Mira and we will miss her. Fortunately, she will still be at the hospital, so we can always stop in for a visit at her new home in rheumatology.

A Long 10 Days

Over the last 10 days or so, Sarah and I have been going round and round with neurology and Mira's dietitian with the Modified Atkins. We feel like there has been some stalling and indecisiveness by everyone, including us, on exactly how we should proceed with the diet and not complicate things further. It has been an emotionally exhausting week.

We are going start keeping a 'food diary' in order to monitor and calculate exactly how many carbs Mira is getting everyday and will adhere to the diet strictly for the next three or four days. On Monday, she will go through a 4-hour fasting period, then get updated labs drawn at CMH before lunch.

In the meantime, we are going to increase her B6 to 300mg (30mg/kg) and may increase it to 500mg (50mg/kg) daily over the next few weeks. The 'pyridoxine factor' hasn't really been ruled out yet and I think that a trial of B6 shouldn't interfere with any of her current diet issues. As with all of the other medications, it either works or it doesn't, only pyridoxine is non-toxic and safe, with minimal side effects. It is the only obvious effective treatment for kids with B6 deficiencies/dependencies.

We ultimately hope to get her off of the ineffective Lamictal and Zonegran, but are trying to keep the variables and moving targets to a minimum for now.

Continuing the (further) Modified Atkins Diet

After some discussion about what to do next, Sarah and I spoke again with neurology and decided to continue the Modified Atkins Diet, while seriously cutting back on Mira's egg, cream, and butter (high fat/cholesterol) intake. We area going to try to get her calories from other foods, so she can try and maintain some sort of ketosis and get the calories that she needs too.

We decided that waiting another month and putting her back on her regular foods (very carb heavy) is just a waste of time. We would rather not continue down the path of ineffective medications for yet another month or more, while waiting for her cholesterol levels to (ideally) come down. We feel that we can hopefully counteract some of the levels with the Omega 3, while also drastically cutting back on her daily cholesterol intake.

We have a standing appointment with Mira's pediatrician in a couple weeks and with neurology at the end of August. We are also trying to get into seeing a metabolic geneticist and the endocrinologist, which might take a month or so.

Sleep Issues Again

After having two great days in a row (no seizures and in a great mood Wednesday and Thursday) Mira had two seizures this afternoon. She has been getting up again at night too, usually starting about 9:00pm until midnight, about once every hour, and usually screaming for no reason. Over the past few months, her sleeping has been fantastic and I am nervous that the streak will be disrupted! Does the box fan have a 'super-speed' level?!

Lab Results

We talked to neurology on Monday morning to find out Mira's lab results from last week and we were essentially stopped in our tracks with the diet. Mira's cholesterol was way above normal, clocking in at 249. The range for normal/acceptable cholesterol is 45-182. Her LDL level (low density lipids aka the "bad" cholesterol) was 166. The range for LDL is 65-120. Her alkaline phosphatase level(s), which are an indication of liver function came in at a whopping 1148. The range for this is 110-320. This could be attributed to a growth spurt.

Irony Factor No. 1: her beta-hydroxybutyrate (BHB) level, which basically is a measurement of her level of ketosis (which is what the Ketogenic Diet and/or Modified Atkins Diet is supposed to induce) was high, but still within normal range. This means that she really wasn't even in ketosis and thus benefiting from the 'true diet' during all of this. Diet wise we have been slowly moving toward the diet (cutting out most of her carb/sugar intake) over the past few weeks, but not quite fully into it.

Irony Factor No. 2: Mira had about a dozen seizures last Friday, then a half-dozen on Saturday, then 2 on Sunday, then 1 on Monday, then 2 on Tuesday, and NONE today! She has had her usual jerks and twitches, but no full-fledged seizures.

So, where are we now with all of this? We are putting her back on her normal routine and regular foods (carbohydrates, here we come!) and we will be putting her back on the Coromega 3 Fatty Acid Supplements (yummy fish oil - good for the heart, brain, and of course, cholesterol levels) for a month and have her levels and labs redone at that time. Mira will remain at her current theraputic Lamictal and Zonegran levels as well. Neurology, her dietitian, Sarah nor I feel comfortable at this point putting her on any kind of high fat (etc) diet until Mira's cholesterol and other levels are down within a reasonable range. Meanwhile we'll be looking into possibly chatting with the Metabolic Geneticist at CMH and/or a Pediatric Endocrinologist. Maybe a fresh set of eyes will help us understand Mira's strange lab results more fully.

On the Road to (Modified) Atkins

Sarah and I met with a dietitian (and Mira's former neuro's nurse) through the neurology clinic at Children's Mercy to initiate a modified Atkins Diet with Mira. We have been discussing the Ketogenic Diet for quite some time, but have been very reluctant to start her on it, for a host of reasons. What we have discovered, through some research, is that Johns Hopkins has been performing some trial studies with a 'modified' Atkins diet, citing similar results to the classic Ketogenic Diet, without the fasting/hospitalization requirement (see this link for more details). Recently other hospitals, including Children's Mercy, have been adopting the modified Atkins as a treatment for epilepsy.

The process of starting her on the diet is fairly easy, unlike the Ketogenic Diet. Again, there is no hospitalization, no fasting period, and no fluid intake (or calorie) restriction, unlike the Ketogenic. She will have to be monitored twice daily with a glucometer one that will also measure her ketones, to ensure that she is in ketosis. She also had to have multiple labs (done this morning at CMH) to get baselines, including an EKG. We will be really watching her weight as well.

The 'typical' Atkins allowance for daily carbohydrate intake is 20 grams. Mira will be at 10 grams or less. We have been slowly weaning her off of carbohydrates over the past few weeks, yet she isn't quite down near the 10 gram limit yet. Unlike the traditional Atkins Diet, the goal is to NOT lose weight, but rather to keep her in ketosis. Therefore, she will be eating foods that are high in fat and calories, including cream, butter, eggs, and getting lots of protein from meat, fish, chicken, etc. to keep her calorie intake up.

The plan is to try the diet for at least three or four months. If it is successful, we can hopefully start reducing her medications. The ultimate goal on the diet is to of course get her seizures under control (or least reduce them) and in an ideal world, we could eliminate (or reduce) her medications soon thereafter. We are supposed to get her labs back toward the end of the week, to make sure there aren't any potential complications in starting the diet.

So far, everything is looking good.