Diagnosis Day 2.0

We have a new diagnosis day: January 31, 2024. 

Last month we did neuropsychological testing with Teddy. It was not a pleasant experience, nor did I expect it to be. Teddy isn't fond of medical offices nor is he great at standardized testing. We requested the referral because we're struggling as a family ... and have really most of last year ... in how to best support Teddy. So we felt it was worth the challenge of the testing to hopefully unlock additional resources.

This behavior, laying on the ground after school, is one of those behaviors that challenge us.

His testing resulted in him meeting the criteria for 2 additional diagnoses: Intellectual Disability, which I already thought (incorrectly) was in his chart, and Autism Spectrum Disorder. Honestly, we were expecting an autism diagnosis, especially after our first parent meeting with the neuropsychologist. 

Still, it's something to process. It's surreal to go from an extremely rare diagnosis, so rare that 3 medical research papers were the only information available online when we got the PIGN-CDG diagnosis, to one so common. We received a laundry list of potential resources when we got the autism diagnosis, and within 4 days we had a one-year membership in a local autism resource group, a discount to attend a statewide autism conference, a full booklet of resources in our area and a paperback book to learn more about autism. It's a bit overwhelming as there's so much information and so many resources, but in a good way. 

Despite an abundance of resources, it's going to take patience and effort to get services started. An autism diagnosis is required in Wisconsin to qualify for ABA (applied behavioral analysis) therapy, which was specifically recommended as something that could highly benefit Teddy. A number of providers do not serve children as old as Teddy, so that limits our options. A lack of qualified staff means that wait lists for after-school hours are 8 months to a year. Yep, you read that right.

So Teddy is on a wait list for a local provider in Oshkosh that serves only after-school hours for Teddy's age, with the potential to start in fall but realistically next January. That provider would be extremely convenient as it's after-school hours, but it's only 8-9 hours a week. While that might seem like a lot, and it's far more than he's receiving now for therapy, I'm not sure it'll be enough to help him make the progress we want for him. 

That means he's on a second wait list for a provider in Appleton, about 30 minutes away. That provider already has done a parent assessment (a detailed 1-hour interview with me), and Teddy is scheduled in May for an in-person assessment. Their recommendation is 10-20 hours of therapy a week, leaning toward the 20 hours to accomplish the goals we discussed including toilet training. Needless to say, that's daunting, though I can see how beneficial it could be. The tentative gameplan is that he'll hang on the waitlist until summer and then start therapy 4 hours a day (9-1) 5 days a week. Then we'd hope and pray that come fall he could get slotted into afternoon hours (1-5) and set up his transitional IEP to middle school to accommodate this. I'm not as concerned about the transitional IEP as I am in getting the afternoon hours because the wait list for the 3-5 time slot is 8 months to a year right now. But we'd have to figure out afternoon hours or else he'd never be in school.

It's hard to know which is the better option, though it's easy to know which is least disruptive to our lives. But the disruption may be worth it to eliminate reduce the daily challenges. So we'll continue to pray, ponder and wait. 

And how we make any of this work, I don't know yet, even for the summer hours, because we still have to line up childcare for this summer. But I remind myself we're doing this for good reasons, and while ABA therapy is a lot, it's exactly what we hoped in terms of additional resources and ways to better support Teddy. 

Neuropsychological Testing ... Yet Another Thing I Never Knew Existed

I've always thought of myself as a person who is fairly well read with a solid vocabulary, but I quickly learned there's a whole lot of words I've never fathomed that I now know well enough to use accurately. Take neuropsychological for example. It sounds like a made-up word, like someone smashed two familiar words like neurology and psychology together.

But it's a real word, and today I used it in the context of Teddy having several hours of neuropsychological testing done at Children's Hospital in Milwaukee. Essentially, it's testing to evaluate where he is from a skills standpoint done through parent questionnaires, teacher questionnaires, specific activities to complete in person under the guise of play and then evaluation of  unstructured play with familiar faces. The purpose is to help us best understand Teddy, how to support him and to advocate for additional resources at school as appropriate. If I'm being honest, the last is probably my biggest hope, although there's some behaviors and the non-existent toilet training that were also discussed.

The testing went perfectly well today, as in Teddy was agreeable, in a good mood and typical Teddy. So his scoring should be accurate and give a good snapshot of who he is. He traveled well for the 3 hours of car rides for the appointment, handled the several hours of testing like a champ and even managed to get through the waiting room without making a spectacle of us. (Trust me, my level of acceptable social behavior for Teddy is much different than that standard for AJ, so we still get looks everywhere we go.)

But it was tough. I cried as I filled out the questionnaire I had to do today because it just sucks to see in black and white all that your child cannot do that others his age can do. I know it because it's our reality every day, but we get used to our reality and ignore the stark contrast. Filling out a form and checking only 3 boxes on a list of 25 or more items that Teddy can do is demoralizing ... and that wasn't even the communication page, which is usually the area Teddy lacks the most.

This is one of the many pages of fun forms. 

Hearing that he's made progress since he was tested almost two years ago is great ... except that progress still puts him at less than a 2-year-old average across the board. My goddaughter who turns two in February will pass Teddy in every skill by her next birthday, and that just sucks. It sucks because I know how damn hard he works for every bit of that progress, the 5 years of therapy it's taken us to get to that functioning level, the things we do every day to help develop those skills and how much I wish I could make life easier for him.

I don't want it to sound as though I'm in denial because we know who Teddy is and how severely affected he is with his CDG-PIGN. At the same time, though, hearing the words intellectual disability is like a solid kick to the stomach. It takes all my willpower to keep the tears in my eyes from rolling down my cheeks .... not because it's a surprise, not because I don't know that already, not because the doctor is mean, but because that just hurts to hear as a parent.

As parents, we want the best for our children, and sometimes it's so hard to understand how this can be the best for Teddy. That's why there's others who help us see the light on these tough days without them necessarily realizing it. My aunt came to visit as we were scheduled for several hours of testing. We got a brief visit, and she entertained Teddy while the doctor and I debriefed. And when I got home, still feeling down, I read her Facebook post (and stole her photo):

"A funtastic play date with Teddy this morning when he was here for his annual evaluation. I can’t describe the joy I feel to see his face light up when I walk into the room. He is a blessing."

The smile that lights up a room.

Some Days, It's Tough to be Teddy's Mom

I feel like I've said this before, but some days it's just tough to be Teddy's mom. Or dad. Or brother. Or grandparent. Or any relative.

He's such a darn lovable kid, who approaches life with reckless joy and lives in the moment. He's happy more often than he's not, unless you're trying to make him do something he doesn't want to do. Sometimes it's those are the moments that it's tough to be Teddy's mom when you're physically trying to peel a 50-pound child who's only a foot or two shorter than you off the ground when he's melted there like a pile of jello. That's physically hard and wears at your patience rather quickly.

The harder days to be Teddy's mom, though, are when it's not the behaviors that make things tough. It's the days that you have to confront that our life is so different from reality for many people. The worst of those are the seizures that put life on hold, terrify us and leave us all worse for the wear. But there are other things that have a similar, albeit less traumatic, effect.

We're pursuing neuropsychological testing for Teddy because we think it'll be helpful for his team at school as well as for us to support Teddy in the best ways at home. In a perfect scenario, we'll learn some things that will help to minimize those behaviors I mentioned above. We've been waiting for 4-5 months for this appointment, and the first portion was a parent interview. That meant I spent 1.5 hours walking through everything Teddy can and can't do. Unfortunately, there's a lot more can't than can when you're asked to compare Teddy to a typical 6-year-old child. I had to chuckle when the only questions that didn't apply to Teddy on the ADHD screening were the two that involved speaking ... only because he doesn't speak.

It might sound weird because clearly we know all the things Teddy can't do that a typical first grader can. But it's such a normal part of our life that most often we complain about things being hard, but we're still used to it. It's the times that you're forced to write down and tell someone else exactly what your child can and can't do that remind you of the thing you try to avoid focusing on: how different your life is from others, from what you expected.

But, I've filled out all the forms now, so I'll give the teacher portion to his teacher, collect that and continue on with life until we do several hours of testing next month. I'll hope for the best that day and then relive all these feelings when we get the results in black and white. Still, it's worth the emotional roller coaster for the information we should gain.

Diagnosis Day

It's been three years since everything and nothing changed during a 3-hour generic appointment.

Receiving an incredibly rare diagnosis was a complete shock. Honestly, getting a diagnosis in and of itself was a surprise. We had spent two years wondering, worrying and getting normal test results for a child who was obviously not normal. The odds of getting a diagnosis with this test were 25 present, and this was our last option for answers.

Yes, that's right. If this test was negative, our next step was to wait another 2 years or so for more genetic discoveries. Then they'd re-run the same incredibly expensive and time consuming (think 3 months) test hoping it would then trigger an answer.

Even though it wasn't the answer we were expecting, I remain grateful we got answers. It's allowed us to find out tribe, participate in research and move forward with the continual process of acceptance. It's a lifelong journey, but I'll take that over the alternative considering how blessed medical research was and still is regarding CDG-PIGN.

I'm Going On a Trip, and I'm Taking ...

Remember the game where you list all the things you're taking on a trip? I think there's different versions where people have to guess what the secret is to how to pick what you're taking or you have to remember what each person is taking. Here's my version:

I'm going on a trip, and I'm taking:

• Legos
• Magnetic toys
• Chewelry
• Pacifer
• Snuggly Blankets
• Books
• Lock puzzle board
• Pretend retractable knife
• Playdough
• Magic sand
• Bristle block stackadoos
• Wooden puzzle toy
• Mouse and cheese string toy
• Lacing shoe
• Jar of empty thread spools
• Roll of yarn
• Buckle toy
• Tablet
• Two toy cars
• Magic markers and paper
• Singing puppy toy (I just added that to my trip pile.)
• Rubber ducky
• Old wallet
• Sippy cup
• Backpack with stuffed animals

Can you guess where I'm going for my trip?

It's a 24-hour inpatient EEG with Teddy. Tomorrow. I had a legitimate nightmare about this a week ago and have been doing my best to avoid thinking about it. I don't sit well. I don't stay still. Neither does Teddy. Add in the fact that Teddy hates medical procedures and rooms and anything that remotely seems medically related, and I'm sure you can understand my nightmares.

Please, oh please, keep Teddy entertained oh magical suitcase of toys.

But, it's what we need to do to make sure he's at an effective dose of Keppra that there are no seizures. We were hoping to wait until school was done but realized we needed to do it as soon as possible after the last seizure in April. We want to make sure we're at a good place with his anti-seizure medication before we head halfway across the country on vacation. 

We've done several EEGs and even a sleep study at NIH (which was horrid, might I say, even if I wasn't the one who spent the night with him) but never a 24-hour inpatient one. The plan is to sedate him for the placement of the EEG leads instead of me holding him for 30 minutes or so while he screams hysterically while they place him. We're hoping that's the right decision that he'll wake up without being annoyed by all the leads and funky hat or at least less miserable than if he were awake for the process. I'm hoping the anesthesia goes well and doesn't have any side effects ... like seizures days later, which is what I think happened in April. To be honest, when they offered the option of sedation, I thought they meant more along the lines of a sedative to help him calm down and remain calm for the lead placement rather than full-blown anesthesia.

Once we get past the lead placement, then the challenge is to keep him occupied and content in a medical room for 24 hours. I'd be much less nervous if we were able to go the play room and wander the halls, but we need to stay in the room on camera for the EEG to be most effective. Hence the largest suitcase we own is almost entirely filled with toys.

Dave and AJ are coming up after school is done, so we're hoping that an hour or two of playing with AJ will be a nice form of entertainment for Teddy. AJ has already planned to save some of his tablet time to help Teddy play games on his tablet and is making him a treasure chest with toys to bring when he comes to visit. AJ really is the best big brother.

Then I'll head home with AJ while Dave takes the night shift because Dave is much better at getting Teddy to sleep than I am a saint. As soon as AJ gets on the bus Wednesday morning, I'll head back to Green Bay to relieve Dave. He'll go to work, and I'll finish out the EEG with Teddy. 

I'm crossing my fingers that he'll make it to school Wednesday afternoon, but I'm not holding my breath on that. We have a backup plan if we won't be home by the time AJ gets done with school. But, as I said to that person, if we're still at the hospital at 2 p.m. on Wednesday after getting admitted at 7 a.m. Tuesday, I'm going to need a lot more than you just watching AJ for a couple hours. Like sanity.

And as I told my mother-in-law, we have a suitcase of toys packed. We should be good ... at least until the anesthesia wears off. 

It needs to happen. It will likely suck. But it'll be done by sometime on Wednesday. 

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.