Neurology Appointment

Last week, we had a long standing neurology appointment, and it turned out to be probably one of the shortest appointments I think we have had to date. This is the second time we have seen this particular neurologist, and Sarah and I are pretty comfortable with him. He is direct, which is great, but more importantly, he recognizes that our family had been on this journey for almost 6 years and he is merely acting as a guide, acting in our best interest, on how to continue the journey.

We discussed medications first and foremost. With all of the changes coming up (mainly Mira's transition into her new summer schedule with the school district and our potentially slow and gradual departure from IDC) that we have no intention of rocking the boat with medication changes on top of everything else. Mira has been on a combination of Lyrica and Clorazepate for some time now and we think it is the best balance that we can achieve for her. She is still having daily seizures (all types - myoclonics, tonic-clonics, head drops, absence, etc.) but nothing new or out of the ordinary. Lyrica helps with the seizures while the clorazepate helps with the irritability. We briefly discussed clobazam, which is only one of two medications that Mira hasn't tried, but I think we will only look to alternatives if things are getting worse.

Genetics is always woven into the dialogue at every neurology appointment and this past meeting was no exception. We ran down the list of isolated gene testing and her neuro keeps coming back to Dravet's Syndrome (SMEI - Severe Myoclonic Epilepsy in Infancy) and the genetic anomalies associated with it, focusing on the SCN1A gene, which Mira has already tested negative for, years ago. There are now additional genes, including SCN1A and SCN1B that are being tied to kids with Dravet-like symptoms - the genetic connection(s) keep expanding. Based on Mira's history, I'm not sure I necessarily agree that Dravet's is accurate in terms of a diagnosis, but anything is possible I suppose. The spectrum with any diagnosis is so varied and unpredictable that it is pointless to theorize any more about which gene causes what. Based on what I have read, I think Dravet's is less likely in Mira's case - again, just based on history and symptoms of the disorder.

Regardless, we are taking the approach that it is fruitless to test for isolated genes (Mira has done 5-10 different genes to date) particularly when the testing at this stage, would be very, very low. Thus, we are going to wait until Children's Mercy advanced genetic testing becomes available, which will be in another 6-9 months. I don't recall the name of the specific test, but I do know that it will test for over 300+ genes, instead of single isolated genes. The technology keeps advancing exponentially it seems.

We also decided during our appointment that we should reduce our neurology visits to just once a year now. Mira has been pretty steady in terms of her seizure activity over the past 2 years and there really is no compelling reason why we would need to continue our 6 month visits. All of her medication tweaks over the past few years have been either over the phone or through email.

Unless of course, we enjoy paying our new copay at CMH, which TRIPLED since our last visit. Ah, insurance...........sometimes it is pointless.

Ramp

As an architect, I never thought I would have the ADA hit so close to home, but nonetheless, here we are. We are having to make modifications to the house, most of which are efforts just to get her chair around the house smoothly. We had used ADA guidelines as a reference, incorporating some of these concepts into the addition (i.e. 3' doors, wider clearances in the kitchen, etc.) but the existing parts of the house prove to be a little more complicated. Modifying a 1953 ranch to meet any sort of ADA compliance is not an easy task. On the interior, there are 2' wide doors and if you can find a 3' turning radius anywhere but the center of the living room, you're ecstatic. The exterior is equally as challenging.

We have been getting accustomed to Mira's new chair over the past few months and one of the challenges we noticed right from the start was just getting the chair in and out of the house. The KidCart (her former system) was easy, since we could simply detach the chair from the base and either carry it out or practically bounce it down the two steps on our front stoop, since it was so light. A majority of the time, the base stayed in the van, so it was really a non-issue. The Zippie (her new chair) weighs considerably more and has anti-tip brackets on the back, which makes it more difficult to get down even a couple stairs.

Back in January, we had a Band-Aid solution, which was to buy a folding ramp until we could modify the front walkway of the house permanently. The folding ramp was suffice for a few months, but running down the 5' incline with the Zippie ended up being a 30 degree dive downward that you learned to prep for with a broad stance and a firm grip on the storm door when stepping onto the stoop. Unfortunately, we could only fit a 5' run from the stoop before we ended up in the bushes, based on the curved walkway.

The challenge with a permanent ramp was to not take on yet another costly and lengthy home improvement exercise - we have met our quota for the next 10 years. So we decided the easiest and most cost effective solution was to simply pour a concrete slope directly over our existing walk. There was some minor demolition, in order to get good concrete coverage and to fan out the end of the path in order to get around the van when parked. We also used geofoam (lightweight foam) to reduce the weight of the concrete at the deeper sections toward the house. In addition to the ramp itself, we also had a small 3' x 20' pad poured on the opposite side of the driveway to get around the van more easily.

It was the obvious and least-invasive solution - the whole project went off without a hitch and was finished quickly. The ramp is only slightly steeper than a typical ADA slope, but it works beautifully for us. We will have some landscape work to do in the future, but ironically, you can barely notice the ramp from the street, as it is right now.

I wanted to extend my eternal thanks to our neighbor Jim Rothberg, who sacrificed his time, materials, and expertise in getting this done for us. We are tremendously grateful for all of your efforts and hard work. Sarah and I cannot thank you enough.

Baby Day Photography

Mira's former therapist and friend Shannon Lockwood at IDC came in to our house this past week to document our family, as a sort of 'day in the life' through candid pictures. They turned out to be nothing short of amazing. As somebody who really appreciates a good photo eye, I think the images she took are incredible. Our pictures are on the March 4th, 2011 blog post here on her website. With so many images to choose from, we have our work cut out for us in which ones we want to have framed. We cannot thank her enough for taking such great shots.

Shannon also compiled a video of all the images in this video:

Update, Pictures, + Videos

For weeks and months now, I have been telling myself (for some odd reason it seems every Sunday evening about 11:30pm when the weekend is finally winding down and Sarah and I are gearing up for the week ahead, that I ‘might possibly be on the verge of planning to maybe, perhaps, certainly, positively update Mira’s blog this week, at some point’ which by mid-week turns to ‘this is it – I am GOING to post something this week’ which ultimately leads to yet another Sunday. So, where were we………..Mira’s 5^th birthday…………………

Well, first, I have to have rant and I will apologize in advance for immediately hijacking the first 8 or 9 paragraphs about Mira’s chair. As I rewind and look at Mira’s last post, I had to chuckle when I read about where we were with her chair back in June. Alas, the eleven month saga has finally come to closure, only a few weeks ago. I will try to provide (don’t hold me to this) only the Cliff Notes version of the endless phone calls, emails, and absolute fuming on our end that ensued throughout the entire process of obtaining a single piece of durable medical equipment.

Having navigated only the surface of the icy waters of health care, insurance, seating clinics, clearinghouses, DME caps, manufacturers, middle-men, markups, documentation, premiums, processing and mainly, excuses, over the past year, it has become painfully clear why health care in this country is broken or at least, the lug nuts are loose and it’s about to lose a wheel. It is a host of factors, yet in this case, it is a story of broken communication, internally and externally, of just one segment of one simple, single transaction – we just wanted to order a chair for our daughter. The process was absurd. There are too many people involved for one transaction, too many channels to navigate, too many documents, too many decisions (and non-decisions alike) too much waiting, and too much money involved. So many people are trying to get paid for one single transaction, which ultimately means, making the entire process TOO CONVOLUTED.

When we first started this, in January of 2010, we felt optimistic and empowered, thinking we were on top of it all – it’s early in the year, we were getting Mira fitted and sized, and on track to have her in a new system by spring. It’s January. She gets measured, the order is rolling. Or is it……..we don’t know. Behind the scenes, the paperwork sits, and gets shuffled, and pushed to someone else, a second party, who sits on it, and reshuffles it, then sends it back, in the wrong direction. Then the company resends paperwork to secondary internal group, again, who finally correctly routes it to insurance. When did insurance actually see this paperwork? Not sure. Is this the first time they have actually seen it? Not sure. Internal finger pointing ensues and a calming assurance is issued from the company that they will resolve this communication problem. They will fix this in the future. Insurance company now needs time to think about the claim, now that they have it. Perhaps more documentation might be needed to help render a decision. One month goes by, two months, three months. No answers. No direction. Severed communication string continues to unravel. Secondary clearinghouse company (funded by the seating company) gets the paperwork back from insurance – the request is to resend it because they need more documentation in regards to Mira’s condition. They can’t make a decision based on what they currently have.

Fast forward to summer 2010, we were no further along than we were in January. By this time, we begin to question whether or not the system we ordered would even work for her by the time we actually get it. At Mira’s current growth rate, she is poised to outgrow the chair in a year. One thing was for certain – we do NOT want to go through this entire process again in another twelve months. We just spent five months getting nowhere. In August, after finally getting in contact with her seating company, we came to the conclusion that the system wouldn’t work for her for the long term. At the same time, it was leaking out that (after nearly 7 months later, endless documentation, and overwhelming frustration in trying to communicate with the seating company) that the system we were ordering was possibly going to be denied by insurance. At this point, we had to make another critical decision. Do we continue this process with this seating company or do we start over completely somewhere else? Let’s give them one more chance to make amends. Bad decision.

Again, we leaned on our insurance to make a decision. We couldn’t place a separate order for a different system until the initial claim was processed and cleared, regardless of where we went - we just needed documentation from them to move forward. In early September, they denied the claim over the phone, as we expected. Twenty minutes later, they called me back and said it had been ‘overturned’ and that they would now approve the claim. It took you two months to make a decision and twenty minutes to overturn it? Really? Ironically, it didn’t matter, since we were ordering a different chair. At that point, we went back to the seating company (the same one, complete with atrocious customer service – we failed to learn our lesson at this point) to resize Mira for a new system and headed BACK down this path, only this time, we requested a case manager through insurance in an effort to expedite the process.

In late September, Mira was measured and sized for the new system and the process starts over ... this time with a proactive insurance case manager on-board. Then we wait, again. One week, two weeks, three weeks, and the cycle of crappy, non-communicative customer service escalates, all over again. October goes by. Finally, just before Halloween, insurance approves Mira’s new chair. We call our rep at the seating company and relay our exciting news. They assure us they will act expeditiously. And again, we wait. It’s mid-November. We can’t stand it anymore and it’s almost Thanksgiving. We remember the quote from the sales rep weeks ago, something along the line of ‘we will have Mira in her new chair by Thanksgiving’ and I laugh sadistically.

We pick up the phone. Good morning, seating company: WHAT IN THE F%*K IS THE STATUS ON MIRA’S CHAIR?!?! (in a more rational tone than I am portraying, but nevertheless thinking). Response: Oh, they tell us, we have been waiting for you to give us a verbal commitment that you will pay the out of pocket costs before we will order her chair and NO her chair isn’t ordered. Cue the sound of screeching tires ... WHAT??!?!?!!!

I cannot believe I am hearing this. I ask for them to send the itemized order for her chair to me via email, so I can review it. I hang up the phone. Ten minutes later I receive the quote via email. Eyes squinting at the screen, I read the cost of the chair and steam begins to whistle in Popeye-esque fashion from both ear canals. Well, this is interesting, Horribly-Communicating-Seating-Company. It says here, based on what you are now deciding to charge us for the chair, after our applied annual DME cap, my out-of-pocket costs are going to be $4,200. That’s almost double what you quoted us TWO MONTHS AGO WHEN YOU WERE SUPPOSED TO ORDER HER CHAIR. At this point, with gnashing teeth, I call the seating company back and said to NOT order the chair, because not only is the quote considerably higher than what you told us before, but yet again, you failed to do your job properly. Let’s remember that you are actually in customer service. I have no idea how you survive as a business, but somehow you do. We are officially done with you. I could be cliché and say ‘strike three’ but the reality is I lost count after 7 or 8 strikes.

Two days before Thanksgiving, we took Mira’s chair order in hand, went to a DIFFERENT seating company, placed the order, had it re-approved by our case manager through insurance (who is a rock-star in this process), and took possession of her chair, for $2,000 less than what we were quoted by the first company, all by the end of the year. We accomplished more with this company in 6 weeks than we did in 10 months with the first company.

One month later after all of this dust has settled, I am slowly calming my frustration. I have never, in my entire life, in dealing with any transaction, with any company, firm, office, or individual, ever dealt with such poor customer service. Ironically, they went ahead and ordered the chair (without our consent – without a phone call, email, or ANY sort of gesture to try and contact us, yet again) in early December, and now they are stuck with it. In the end, poor communication and karma bit them in the ass and they get to deal with a $6,700 chair that we don’t need, and personally, I could not care any less. I am done with my rant and am now moving on.

The chair itself is awesome and everything that we need for Mira. As she gets bigger, the chair will accommodate. We are currently making some modifications to the house, getting bids on pouring a ramp up to the front stoop. Right now, we are having to lift her chair in and out of the back of the van, but we do have a folding ramp. Ultimately, we will look into getting a converted van, but that is another adventure, hopefully in 2012.

In other news…………….Mira’s neurologist left last summer and we had our first appointment with her new neuro, which went very well. He is approachable, direct, and has an open mind. We went through a lengthy review of all Mira’s history and medications, ultimately focusing on two things: 1. seizure control and 2. minimizing/weaning anything out of her routine that may not be helping. Clearly, Lyrica works for Mira – we have no intentions of weaning her off of pregabalin. We have ventured down this road, with poor results. What all of us did question, however, was clorazepate. This is an older benzodiazepine, with very sedating properties, that may or may not be doing anything for her. We originally used it for her irritability and anxiety, but now questioned whether or not she should 1. be at this dosage and 2. whether it was doing anything for seizure control. Collectively, we agreed to try weaning her off it.

It is all trial and error and we found out the hard way that she needs clorazepate. The weaning process took several weeks and by the time she was completely off of it, Mira was a mess. Her irritability gradually increased to the point where she was crying inconsolably for most of the day. Then she started getting up again at night, screaming, crying, and was not a happy girl. She was extremely irritable to the point that NOTHING would help. We have tactics, we tried them all and now, we are done with this – put her back on it, right now. The answer to this particular question would be YES, Mira needs to be on clorazepate. Within 3 or 4 days, Mira was back to her old self without the constant irritability, fussing, and crying. There was no finger-pointing, questioning, or anything. Just put her back on it and let’s move on.

With her new neurologist, we also discussed genetics. His thought was that there is no need to go on a fishing expedition and continue to test for isolated genes, based on the literature that is out there now. Genetic deletions, mutations, rearrangements, and mosaicisms are being discovered every other day – some relevant; most are not. All of these genes: MECP2, CDKL5, STXBP1, FOXG1, SCN1A, and the list keeps growing that all link back to intractable epilepsy – Mira has been tested for most, but not all of them. Her neurologist basically said that until a whole genome sequencing effort was commercially available and/or affordable, there was no valid reason for entertaining additional testing for specific genes. We are fine with this. There really is no compelling reason other than to point to a particular gene (ABC123) and say ‘there it is’ – congratulations, you found it. It obviously doesn’t help Mira’s day-to-day quality of life or will help her per se, but it would certainly make it easier to explain.

Completely switching gears, Mira has a new name as of late – Shark Teeth. Mira lost her first two teeth this past week. One of them we have and the other is lost. As her lower permanent teeth were pushing up, her new ones hadn’t worked themselves out, thus the two rows of teeth for a few weeks. So Shark Teeth gets filed in our mental Rolodex of names for Mira’s nuances, mannerisms, toys and the like: there’s the dragon, the Bunz, happy claps, Meerz, and now Shark Teeth.

Mira continues to grow. At her last appointment in September, she was weighing in at 60 pounds and is still in the 90^th percentile for height. As she increases in size, our diaper options decrease. We officially had to give up the Stage 7 diaper route (available only online) and move to an adult-type diaper. I was flabbergasted at the size of these things. We ordered a sample of the extra-smalls, based on her waist and they were a little snug still, so we quickly moved up to the small size. The word small is a misnomer – there is nothing small about them, in fact, they remind me of a trash bag, only with a light green hue. The flaps are huge, the tabs are unforgiving and they are expensive. Yet, they work, so no complaints. We are using up the last of the Stage 7 order and transitioning into them successfully, but not without some initial jaw-dropping.

The house is all but done for now – some minor trim work and some painting is all that remains. When the weather warms up, we can finish painting the interior windows an actually start on some landscaping in the spring.

I am posting a bunch of random images from June through this past weekend, which is how our lives seem to function these days – a potpourri of kids, family, housework, occasional travels (Sarah surprised me for my 40^th in September and we took and extended weekend in Chicago) and toy repairs. Mira broke her fifth Tomy toy, but we were able to salvage parts from old ones and rebuild it. We also found another backup on Ebay, so I think we are in the clear for a while.

I also posted a bunch of random videos on Mira’s YouTube site here. They aren’t all that exciting, but it gives you a good idea of Mira’s mobility these days. Hope everyone is doing well and thanks for all of your thoughts, prayers, help, and generosity over the past year!