Running a marathon

I’ve been training for a marathon! Okay, not really training. I’m more just running a marathon. Okay, I lied again. I’ve been crawling through a marathon, for the last 2 years and 10 months. Tristan was born 2 years and 10 months ago. And it has been an exhausting 2 years and 10 months. Now don’t let that word confuse you. Yes, it has been tiring. But in all the ways a parent or friend or uncle or sister to a “normal” child, wouldn’t think of. It has been GREAT watching milestones happen. Seeing him run in the opposite direction, laughing hysterically because you are chasing him. Or maybe just watching him line up his cars over, and over, and OVER again. But it has been exhausting trying to figure out why Tristan is anything *but* normal.

It all started July 2016. Tristan, now 9 months old, wasn’t sitting up on his own. I chalked it up to the fact that he had been wearing a helmet to correct his misshapen head for the last 4 months and it was throwing off his balance. We were already seeing a physical therapist for the last 6 months, so we decided to continue seeing her in hopes that it would speed up “whatever” was holding him back. Well it turns out that Tristan wouldn’t learn how to sit on his own until around 11 months of age. Pulling to stand? 16 to 17 months. Walking on his own? I’ll get back to you on that.

At this point, sometime mid-2016, I ask to see a neurologist. As with any specialist, we waited a few months to get in for the initial consult. September rolls around and we finally meet a new doctor. After going over Tristan’s (short) history, he orders an MRI to take a look at Tristan’s brain. 4 hours and 2 minutes into the marathon, and I can see the finish line from here! Three (excruciatingly slow) weeks go by, we finally arrive to his MRI day. Not only did they forget about Tristan after putting us in the prep room (causing him to then go a total of 9 hours without eating or drinking), they didn’t tell me to wait upstairs instead of in the lobby for him to wake up from his anesthesia, which meant he woke up from anesthesia without me there.

A few days later, the results came in. They read (in layman’s terms) NOTHING OF IMPORTANCE HERE. The literal words used were “UNREMARKABLE BRAIN”.

So here we are. Mile marker 25, THE HOME STRETCH. And it turns out it’s only mile marker 2.5, not 25. Back to square one we go. After our follow up appointment a few months later, the neurologist sends in a referral to a geneticist, and I feel that we are FINALLY going to get some answers. Because geneticists must have the answers, right? Again, I’ll get back to you on that.

Our referral was sent out in February 2017. Life got crazy, and we decided to get pregnant! Meanwhile, Tristan is now taking speech therapy, on top of physical and occupational therapies. And I have a daughter in preschool, and now a newborn. Naturally, we decided to put the hunt for a diagnosis on hold. Okay, it was really so I didn’t have a midlife crisis in my 20’s. (I’ll still get back to you on that)

Two months after Roland was born, I decided that we had had enough waiting at mile marker 2.5, and we were going to finish running the damn marathon!

August 2017. I talk with Tristan’s pediatrician (side note: Dr. Seitter has been a GODSEND. He has been a huge help and has always given many suggestions on how we can proceed with doing what is best for Tristan) and he sent in a referral to see a geneticist. A week goes by, and my new-again-mom-brain finally remembered that we already have a referral in to see a geneticist. What ever happened to it? Why didn’t anyone call me to schedule months ago?

After a call down to PCH (Phoenix Children’s Hospital), it turns out that the referral got lost in paperwork. Not to mention, the geneticist is scheduling 8 months out. Yes, they still have our first referral from February 2017. And we aren’t going to get in to see her until April 2018.

#whatthedamnhell

After a few (not so happy) phone calls to the scheduling and office managers, there is nothing that can be done, except to be put on a cancellation list that is currently 200 patients long.

So, we wait.

“You'll be on your way up! You'll be seeing great sights! You'll join the high fliers who soar to high heights. You won't lag behind, because you'll have the speed. You'll pass the whole gang and you'll soon take the lead. Wherever you fly, you'll be best of the best. Wherever you go, you will top all the rest.

Except when you don't. Because, sometimes, you won't. I'm sorry to say so, but, sadly, it's true. That Bang-ups and Hang-ups can happen to you.

You will come to a place where the streets are not marked. Some windows are lighted. But mostly they're darked. Do you dare to stay out? Do you dare to go in? How much can you lose? How much can you win?

And IF you go in, should you turn left or right... or right-and-three-quarters? Or, maybe, not quite? Or go around back and sneak in from behind? Simple it's not, I'm afraid you will find, for a mind-maker-upper to make up his mind.

You can get so confused that you'll start in to race, down long wiggled roads at a break-necking pace. And grind on for miles cross weirdish wild space, headed, I fear, toward a most useless place.

The Waiting Place...

...for people just waiting. Waiting for a train to go or a bus to come, or a plane to go or the mail to come. Everyone is just waiting. Waiting, perhaps, for a Better Break or a string of pearls, or a pair of pants or a wig with curls, or Another Chance. Everyone is just waiting.”

Thanksgiving happens. Then Christmas too. Cupid shoots a few more arrows in February. We did a lot of waiting. All the while hearing people say, “Oh I’m sure he’ll be fine.” Or, “He’ll grow out of it.” But there is something curious about being a mom. God granted us moms something special, called “a mom gut.” I’m not just talking about the (not) wonderful pooch we get after giving birth that seemingly will never go away. Or the gut we get from drinking so much Coke and Dr Pepper because tape won’t keep our eyes open enough from lack of sleep. I’m talking about that feeling that mom’s get when they just *know* something isn’t right. Week after week, month after month, people (probably) thought I was crazy because I was the only one who thought this was something more. And now we finally are going to meet someone who is going to agree with me!

April rolls around and the appointment lasted 3 hours. All with Tristan not being able to eat. Not to mention I had Roland with me, so feeding him and not Tristan? I legit think I went crazy thinking that was a good idea. The geneticist was very nice, and very knowledgeable. She had a good plan, and more importantly, she agreed with me! And we were on the fast track to finding a diagnosis. We had some blood work done to have a Chromosomal Microarray done, along with a string of other tests that would hopefully pin something down. Now we wait for the results.

Another visit to Dr Seitter resulted in us getting a referral to see an audiologist, as well as an endocrinologist and GI. Once more, more waiting to see a specialist.

6 weeks go by and we are going in to see the Audiologist! I was most excited for this appointment because Tristan, at this point, was mostly non-verbal. He knows a few signs, and will say Mom, Mo’ (more), Moo, and Mo (our dog, or any dog for that matter). The appointment itself was really interesting. I learned some cool things about the ear and how language and speech go hand in hand. Three tests were done, and the conclusion was that he has fluid build up in his ears, and *currently* has hearing loss. She recommended we take some decongestant for 6 weeks and come back again to test again to see if the fluid cleared up at all.

It finally feels like we’re moving past mile marked 2.5! We’re finally getting somewhere!

That same day, we got the results back from Tristan’s genetic testing. Lo’ and behold, everything came back normal.

Come again?

Everything came back normal. And she requested that we come back in 6 months to go over our next plan of action.

SIX MONTHS. Welcome to mile marker 2.6.

I was not having this. All of this waiting was building up some anxious/angry feelings. I was done having doctors kick Tristan’s case down the road because he’s not dying and it’s not “urgent.” How is Tristan being in the 2^nd percentile for height and not gaining more than 1 pound in almost 2 years not “urgent?” How is Tristan not being able to walk on his own at 33 months not “urgent?” How is Tristan not being able to communicate, thus causing many tantrums that include hitting and biting, not “urgent?” No. I was not going to wait 6 more months.

Mama Bear came for a visit.

I left a very stern and direct message for the geneticist and her assistant stating that I was not going to wait. Because waiting was not going to prove anything. We’ve been waiting 2 and a half years, to see not a whole lot of improvement. 6 more months was not going to show anything. I demanded that we get in sooner.

And I was heard. She was able to double book an appointment and get me in in July, rather than October. More waiting, but less waiting at the same time.

Fast forward to July, and we meet again with genetics. We talk more genetic testing, and proceed with the next step. Luckily, this appointment was only 2 hours long, and Tristan could eat! We left the appointment with tests to check neuromuscular disorders, and a referral to an excellent neurologist.

It’s finally our time to see an endocrinologist. He was not concerned about Tristan’s height-weight ratio, because it’s within a normal range. Take into account that he’s almost 3, that’s where we have a problem. Once again, more blood work to do more testing. He then wants to see us back in 6 months. Again with the 6 months?! His reasoning, though, made sense. He wants to see how his growth continues to develop, to see where to go. Because it’s only been in the last 6ish months that things have started to decline on his growth curve. If it keeps going the way it’s going, then we have a really bad problem.

6 weeks later, test results are in.

Growth hormone levels: Normal

Celiac: Negative

6 more tests that I do not understand the importance of but are obviously important: Normal

Square one, we meet again.

Another visit to Audiology, after taking a decongestant, shows that he still has fluid built up in his ears, and we now need to see an ENT.

Roland turns 1, we start swim lessons for Eloise, and life continues on. A much-needed trip to Utah ensued, and we were all emotionally charged up to keep trudging along.

Remember the neuromuscular tests? You guessed it. Came back normal.

We waited 3 weeks to get into an ENT that Dr Seitter highly recommended, only to be extremely disappointed in how we were treated. I felt more like a number than a patient. At no point did he ask if I had any questions, and rushed through the entire appointment. I was so caught off guard, that I didn’t stand up for Tristan. I failed him. I failed him as his mom, and his advocate. I failed to fight for someone who couldn’t fight for himself. The tests came back inconclusive and he wanted to see us back in 3 months to take the tests again.

WHAT IS IT WITH DOCTORS AND WANTING TO WAIT ALL THE DAMN TIME?!

We left, and I felt defeated. A few days go by, and I just couldn’t take it anymore. We were going to get a second opinion. The wonderful office staff of Dr Seitter sent in a referral to see a doctor at PCH (the previous ENT was the first doctor we’ve seen that was not at PCH.) They call me within an hour of the referral being sent over, and inform me that the first available appoint was in 3 months, the day AFTER our follow up visit with the ENT. So much for a second opinion… A few more days go by, and I still am not sitting well with the fact that Tristan can’t hear, and we have to wait, just to even see what our options are. It’s not like we are waiting for his hearing aids to be made, or surgery to be scheduled. We haven’t even gotten that far! I did some more digging, and found another ENT that was 40 minutes away. He had wonderful reviews on all the medical reviewing websites, so I felt pretty confident it would be a good experience.

We show up to the appointment and are taken back almost immediately. The nurse was so friendly and we didn’t wait long for the doctor to come in. The first thing he does, before even shaking my hand, was greet Tristan and give him a high five. It was so heartwarming to have someone treat Tristan so wonderfully after having a not so pleasant experience previously. He explained E-VER-Y-THING about every test we did, the different options, and how this is happening. After completing two tests, he passed one and failed another. The doctor ordered some more in-depth tests to measure Tristan’s brain activity when certain frequencies are played.

We’ve made it to mile marker 12!!!

2 days later, we meet with a new neurologist who came very highly recommended by Tristan’s geneticist. He is specialized in neuromuscular disorders and, according to the Geneticist, has many patients like Tristan. Dr. Bernes was an interesting person. He is rather old and doesn’t complete all of his sentences before starting new sentences. He was so fascinated with Tristan, though. He was interested in how little muscle mass he has, and how no matter what angle he whacked Tristan’s knee with the “knee whacker” (it’s a knee whacker Vern, A KNEE WHACKER!!! (name that movie)) there was no reaction. We had a nice long conversation about everything and made a new plan. When he found out that Tristan would be sedated for his ABR (audiology exam), he ordered an MRI, EMG, and NCV tests. The MRI will be able to show if there are any differences in Tristan’s brain growth from his last MRI. The EMG and NCV tests measure how your muscles and nerves work together, if at all. These, hopefully, will lead us to a diagnosis that will help us prepare better for Tristan’s life to come. Unfortunately, you guessed it, we’ll be waiting a while to even get these tests done. It’s not easy to schedule 3 different tests, performed by 3 different people, in 2 different departments. So, we wait.

In the meantime, to help with insurance purposes and getting Tristan into school, Dr. Bernes diagnosed Tristan with Cerebral Palsy. He said this isn’t a concrete diagnosis, and it is only temporary (until we find something better), but it is as close as we can get to some kind of diagnosis.

So, this is where we are. August 24, 2018. Waiting at mile 12.