Family Christmas Pary

Dave comes from a large family since his mom is one of 13 children. Every year, all the aunts and uncles, cousins and kiddos all get together for a huge Christmas gathering. I remember when we first were dating trying desperately to figure out everyone's names. Now we all just struggle to remember all the little ones who we only see a handful of times throughout the year.

We put Teddy in his gait trainer right away, so he could check things out on his own. He owned that place! He was everywhere, going across the fake grass, onto the mats and all around the gym where the party is held. He probably spent 30 minutes in his gait trainer when we first arrived, which is a really long time for him to stay content, motivated and active in it. It was adorable when one of the kindergarten-aged cousins was helping to steer him from behind, and he kept looking over his shoulder giggling and smiling at her.

Teddy made it into his gait trainer for a bit more while at the party and thoroughly enjoyed himself. AJ enjoyed himself until his knees became obnoxiously swollen and painful. He had a rash for the past 24 hours, but no joint swelling until partially through the party. He had been complaining his knees hurt, but I knew we were headed for an ER visit when I saw how swollen they were.

We left the ER with a referral to a rheumatologist for AJ but no diagnosis or treatment. (The swelling was gone by the next day, and the rash disappeared a few days later. His follow up with the rheumatologist was uneventful as well, considering all tests and labs were negative or normal. Just a fluke, unless it happens again.)

Despite the fun of spending a few hours in the ER, I ended the day fairly content. More often than not, when we see children Teddy's age or younger able to do so much more than him with so little effort, it eats away at us. Partially, we hate to see him work so hard to do everything. Partially, we hate the reminders of what he can't do because we don't have that side-by-side comparison. (We're not naive. We know Teddy is delayed. But when we see him day in and day out, we see Teddy and what's normal for him. Seeing others his age or younger is a stark reminder that what's normal for Teddy is not typical.)

But this Christmas party was different for me. It was the first time that instead of the sadness and comparison (like I had felt the previous year's Christmas party and so many other times) that I was so proud of him and excited for what he could do. I know that's how I should be all the time, but it's so much easier said than done particularly since it's more of a sub-conscious thing. I hadn't even realized it until after we left the party.

I know I won't always have the mindset that allows me to focus on what he can do, but it's certainly more uplifting than the alternative.

It's not getting any easier to get a good picture of both boys at the same time!

Guilt

All parents feel guilty at some point, I think. Sometimes, it's probably warranted. And sometimes it's over things that are far beyond our control.

As it became clearer that Teddy wasn't a typical child, the guilt and worry kept creeping into my mind.

Was this because of my Crohns and medications I took during my pregnancy? I had followed my doctor's orders, which were even more conservative than with my first child. (I had even participated in a multi-year study following my first son's birth to check the possible effects of the medication.)

Maybe it was the fact that his umbilical cord was wrapped around his neck when he was born. Maybe we should have been more concerned that he was blue at birth and advocated or did something differently.

Or perhaps it was that moment when he tumbled out of a chair, and I learned he could indeed move his body that way instead of being a motionless baby. Or perhaps the time his big brother "helped" him out of the chair by pulling him down into the over-sized stuff animal that served as a landing pad that was never intended to actually be used.

Was there something we did wrong? Something we could have changed?

After getting a diagnosis, it alleviated pretty much all the guilt associated with how and why Teddy was Teddy. (Don't get me wrong - there's enough guilt for other things because I'm still human.) In many ways, it was freeing to know this was how God made Teddy. It wasn't my fault. I hadn't caused this. It wasn't my Remicaid infusions. It wasn't me failing as a mother by having his cord wrapped around his neck (although I realistically had no control over that). And it wasn't those few times he tumbled.

It was Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1. It was a genetic mutation of the PIGN gene. It was how God made Teddy.

There's been so much that's been difficult to accept (process is the word I use most often), but this relief was almost instantaneous with the diagnosis. For that, I am grateful. I had been making progress on accepting that even if Teddy's symptoms were caused by something in the past, there was nothing that could be changed aside from doing what was best for him in the present. Still, the diagnosis brought full closure for me on that aspect and made it easier to accept the "What's next? What's the best we can do for him now and in the future?"

Diagnosis Day

Teddy was diagnosed with the genetic disorder Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 as a result of exome sequencing. There was a 25% chance of finding the cause of his uniqueness, so we were surprised to get an actual diagnosis.

As far as the diagnosis goes, well, we were astounded to learn this condition was discovered in 2011, and Teddy is the 15th known case in the entire world.

That means when we got married, one of our future children would have a disorder that wouldn't be discovered yet for another 5 years. It's crazy. It's hard to wrap our arms around.

We hadn't really speculated as to what we might learn because we had already eliminated most of Dave's (paranoid) guesses from his research, which didn't include this diagnosis. There's 3 things on Google: two research papers and a NIHS article, all of which we got from our genetics department at Children's Hospital in Milwaukee. In our age of Google, 3 true related hits is insane.

So, the genetics counselor asked if we planned to have more kids. My answer was "Not after today." Dave's thought was "F--- no!" We love Teddy. We love AJ. Way back before Teddy was born with a will stronger than ours, we wanted 3 kiddos (3 healthy boys was my wish). But there's a 25% chance of another Teddy syndrome (and a 50% chance of carrier status). Not a risk we'll take. We had been waiting for these results to see if we would even consider more kids, and this slammed the door shut. That's hard.

Aside from me actually enjoying pregnancy, it ends some dreams. The worst of it is AJ won't have a typical sibling. We feel we're robbing him of that experience. It feels like the best case scenario is he's responsible for taking care of all of us when we get old. And that's so unfair. I know he'll gain immeasurable things like empathy, compassion and acceptance, but it's still not fair to him. This is one of the hardest things to accept.

Never Accept an Insurance Denial

I still recall how frustrated I was when our insurance company denied speech therapy for Teddy. At that time, he was 15-months old and completely non-verbal. He lacked the ability to attend to toys and honestly interact much with people including making eye contact and tracking motions. His speech scores were the lowest of all his test scores, with many of his skills in the 0-3 month range. That's tough for a parent to hear, although we obviously knew he wasn't going to score well.

Even tougher was hearing that the insurance company didn't feel it was necessary for him. At first, I was downright mad. Many an inappropriate word left my mouth, and it was very difficult not to write an appeal based on emotion. Instead, I did what research I could and wrote an appeal based on as many factual aspects as possible, which was a bit difficult without a true diagnosis for Teddy. This was the appeal: 

Dear Sir or Madam:

My son, Theodore Blondheim, is a 15-month-old boy who has been diagnosed with hypotonia by his pediatric neurologist. To remediate this condition, Theodore has been receiving occupational therapy and physical therapy and has met several of his therapeutic goals in these areas within the past two months. All concerned believe continued therapy is crucial to overcome this condition.

Humana denied a request to begin speech therapy for Theodore beginning September 11, 2014. The denial was issued because therapy was deemed a non-medically necessary service to address learning disabilities.

Theodore’s hypotonia affects the muscles throughout his body and is not restricted to his trunk. His hypotonia affects his oral motor musculature. A child with hypotonia, “lacks head and chest control and exhibits low tone in the face and mouth. Sucking, chewing and swallowing are difficult for these infants and toddlers. Drooling food and saliva from the mouth is common and may persist in the school age child,” according to “Early recognition and intervention is the key to recovery for Benign Congenital Hypotonia” by Shannon Munro Cohen, RNC, BSN and Teresa Whitt, Ph.D.

Theodore has demonstrated constant drooling, unassociated with periods of teething. With the assistance of his occupational therapy, Theodore has learned the motions of bringing a sippy cup to his mouth to drink. However, Theodore is unable to properly swallow liquids from sippy cups without soiling his shirt within a few sips as he lacks the muscle control to appropriately drink from a sippy cup. When Theodore wears a pocket bib, the entire pocket of the bib is filled with the liquid within 5 minutes of attempting to drink.

Hypotonia is not a developmental disorder or childhood delay. If left untreated, my son will not properly develop meaningful speech or coordinated motor abilities related consumption of food and beverages. Lack of meaningful speech and these motor abilities would result directly in a deterioration of my son’s health and safety, in that he will not be able to communicate medical needs and will be unable to function in daily life skills involving eating and drinking that are directly related to his health and wellbeing. 

Speech therapy is among the least expensive and least invasive form of treatment accepted by the medical community and is not implemented for the convenience of the child or therapist.

Since hypotonia is a medical condition and not a developmental delay or disorder, and since speech and therapy is medically necessary, we are asking for three months of speech therapy followed by a reevalution.

Thank you for your assistance. 

Within a month or so, the initial decision was reversed, and we were into speech therapy with an awesome pediatric speech therapist. Teddy has benefited so much from this therapy, and we were so happy to get it approved for him. (Unfortunately, at the time I'm writing this post, we're waiting yet again for re authorization of speech therapy.)

That wasn't the only appeal we had to write. He was denied for genetic testing to test a specific gene related to seizures. As much as the speech therapy denial upset me, I was livid with this one because he had two seizures within two days of receiving the denial. Once again, I tried to appeal with reason instead of emotion, and this was the appeal:

Dear Sir or Madam:

My son, Theodore Blondheim, is a 16-month-old boy who is currently diagnosed with febrile seizures by his pediatric neurologist. However, Theodore’s seizures do not follow the typical pattern of febrile seizures, which is why Theodore was referred for genetic testing and consultation. Theodore has had five separate seizure episodes, two of which involved multiple seizures, with the most recent episode occurring November 16, 2014. According to the National Institute of Neurological Disorders and Stroke, “The majority of children with febrile seizures have rectal temperatures greater than 102 degrees Fahrenheit.” In only one instance did Theodore’s temperature exceed 102 degrees Fahrenheit, and in two instances his temperature was below 100 degrees Fahrenheit.

Humana denied a request for SCN1A sequencing genetic testing November 14, 2014. The denial was issued because this testing was deemed a non-medically necessary service. The specific reason cited in the phone call I received November 14, 2014 was the results of this SCN1A sequencing genetic testing would not alter the treatment or care of Theodore’s condition. 

Theodore’s geneticist, Dr. Gunter Scharer, indicated the SCN1A sequencing genetic testing could alter the course of Theodore’s treatment, specifically providing a list of potential medications to avoid to prevent significant negative reactions. This is supported by the National Center for Biotechnology Information (NCBI), which states individuals with SCN1A-related seizure disorders should avoid “AEDs: carbamazepine, lamotrigine, and vigabatrin, which can induce or increase myoclonic seizures; phenytoin, which can induce choreoathetosis.”

Additionally, the NCBI states, “Use of the ketogenic diet to decrease seizure frequency has been beneficial in some affected individuals.” This means the results of this SCN1A sequencing genetic testing could, in fact, result in a course of treatment that is among the least expensive and least invasive accepted by the medical community.

It is apparent Theodore’s seizures are still a significant medical concern given that he unfortunately had another seizure two days after Humana issued the denial regarding this request. Since the results of the SCN1A sequencing genetic testing could significantly alter the course of Theodore’s medical care; AND alternative laboratory or clinical tests to definitively diagnosis the genetic disorder are unavailable; AND the SCN1A sequencing genetic testing is a clinically valid test, based on published peer-reviewed medical literature; AND Theodore has not previously received this genetic testing; AND the testing panel is for a specific gene deemed medically necessary to establish a diagnosis, we are asking for approval of this specific test.

Thank you for your assistance. 

Again, thankfully, we were successful with the appeal. Although we didn't learn a diagnosis from this particular genetic test, we were then able to move onto the next level of testing. That next level of genetic exome sequencing was the test that gave us a diagnosis after nearly 2 years of searching.

I wanted to share these appeal for two reasons: 

1. First and foremost, don't give up hope if you receive a denial for services. Don't let an insurance company decide what is best for your child or loved one. Get mad, but then do something about it. There are processes within every insurance company to appeal. And there are, at least in Wisconsin, processes to appeal the insurance company's decision if their internal process doesn't yield a favorable result.
2. By no means am I an expert after writing two appeals, but I'm more than happy to help others with this if they cannot find the support they need from their treatment team. I wanted to share the specific language I used to give others an idea of what worked for us and the general format we used. I would give credit to the original place online where I found an appeal to model ours after, but I don't recall what it is.

Happy 1st Birthday!

My husband and I place a high value on vacations. Our ideal vacations include hiking, camping and exploring our country's national parks. They don't fit the typical mold of a nice, relaxing vacation, particularly when you add a couple toddlers to the mix. I'll admit that adding children to the mix greatly shortens our hikes, diminishes the amount of sleep we get and results in a few more stressful moments. The way I look at it, though, is that we'd still lose sleep and have a few stressful moments if we were at home, so I'd much rather be exploring our country with them and sharing the new experiences with them.

What a gorgeous place to celebrate being 1!

That explains why the day before Teddy's first birthday we were driving to Crater Lake National Park in Oregon. It was a fairly long day of driving, and Teddy was beyond done with it. The problem was we still had a long hour left to get to our campground, which involved non-stop screaming regardless of our attempts to entertain him. By the time we got to the camp site, we were all a bit frazzled, except Teddy who was as happy as could be to be out the captivity of his carseat.

My husband and I went to bed stressed, not helped by the fact that Teddy was a bugger to get to sleep. Then he proceeded to spend much of the night awake and crying, keeping both of us awake. So when we awoke, far too early for our liking, on his birthday, we weren't exactly the most fond of him at that moment. To be honest, we were both wondering why things always had to be so hard with Teddy and why life couldn't be a bit easier. Don't get me wrong, we certainly expect some crying and stress when traveling more than 6,000 miles with a 1- and 3-year old, but we certainly felt the stress that day.

Oddly enough, after not sleeping all night, Teddy napped while we hiked.

Still, we only had so much time to explore that park, so that's what we did. We strapped both boys into our backpack carriers and headed down the only path to Crater Lake. It wasn't a secluded hike by any means, but we really enjoyed ourselves on the hike down knowing full well the hike back up was all uphill. When we got to the rocky lakeshore with the sun shining, our smiles became genuine and our laughter real as we splashed the boys with water and dunked their heads. We forgot about the lack of sleep and the struggles of the past day and simply enjoyed the moment. Although we couldn't take the boat tour to Wizard Island because our children were too young, that hike was absolutely what we needed.

When we got back to camp, Teddy surprised us while we were getting supper ready. We had left him in the tent to play (and keep him safely out of trouble). When we peered in to check on him, we discovered him sitting up. This was the first time ever that Teddy managed to get into a sitting position all by himself! What a milestone to hit on his first birthday.

Some gourmet spaghettios for birthday supper.

We rounded out the day with cake to celebrate his first birthday and went to bed exhausted but much happier than 24 hours earlier.

Cake face!

Happy New Year! (First Seizure Episodes)

This day will remain forever etched in our minds.

The holiday season had been filled with sickness for us: stomach flu for most of us and extended family, colds for most of us, 3 cases of pink eye and a strained back (due to vomiting with the stomach flu). We actually came home from celebrating with Dave's family a day early because we just wanted to recover for a day.

After eating lunch, I was holding Teddy while Dave and AJ finished eating. Teddy suddenly went limp and started shaking. I looked at Dave and we were confused as to what was happening. As it continued, we thought it was a seizure but had never experienced one. We called the nurse call line for our insurance to see what to do and were instructed to call 911.

We prepped AJ for the paramedics by telling him some special friends were coming to check on Teddy. When the paramedics arrived, they checked out Teddy, who was mostly back to normal. Since all his vitals were fine, they said we could transport him ourselves.

We headed to the ER with AJ in tow. Dave's folks headed down to pick up AJ, and my mom began the 2.25 hour drive to our place as well. While at the ER, Teddy was kind enough to have another seizure, so we weren't the only ones to witness it.

After scary hours, including debates of whether to send us via ambulance to Children's Hospital in Milwaukee, we were released with a diagnosis of febrile seizures as he had a fever of 100.8°F. The diagnosis didn't quite fit because they typically don't occur until a child is at least 6 months, but we left with the hope that this would be the only time it occurred and a referral to a pediatric neurologist.


And this is the start of us realizing how unique Teddy was ... although this was the tip of the iceberg.

The First Five Months

The first few months after Teddy's birth were fairly uneventful. Our older son AJ adapted well to becoming a big brother, and we all managed just fine despite being tucked tightly into a small duplex. We had moved to Oshkosh from Denmark (Wisconsin) in January 2013 when Dave took a new job. Because we had less than a month to find a place to live, and a house in Denmark to sell, we rented a nice, but small, 2-bedroom duplex. Our hope was to sell our Denmark house and be moved into a new house before Teddy was born. That didn't quite happen since our house didn't sell until right before Teddy was born, and then life happened. We lived in that little duplex for about 19 months, which was at least 12 more than I had intended. Guess what, we all survived.

Teddy's baptism with the Kassie side of the family.

 

Teddy's baptism with the Blondheim side of the family ... juggling cousins!

The biggest issue we encountered was that Teddy was not a happy baby. Although most of the pictures I've included with this post indicate otherwise, he was not all smiles and giggles. In fact, he was more screams and cries.

Brotherly love

It seemed that often he was only content if I walked around carrying him, and he wasn't that tiny of a baby that he got heavy after a while (or so I thought at the time. His current Jan 2016 weight of 35 + lbs. and carrying him now puts that idea of heavy into perspective.) He cried so much that my mother-in-law insisted that he hated her, and we simply told her that Teddy hated life in general, not her specifically.

This was reality most of the time unless Teddy was held while walking around.

I distinctly recall coming home from a late work dinner to find David in the rocking chair with Teddy screaming at the top of his lungs. Once I took him, he settled down, which I know frustrated Dave to no end. (And my stress sky-rocketed from an evening away from the boys only to be greeted by piercing screams.)

That smile, though, was his saving grace.

For whatever reason, around 5 months Teddy magically became a much happier child. He was content to actually chill out on the floor without screaming. He didn't need to be carried everywhere all the time. Life was good ...