Long Overdue Medical Update

My son is a medical mystery right now. I haven’t written too much about it here yet because a) I’ve been sharing bits and pieces on Facebook and b) it’s a long fricking story and who has time to type this much?  :)

For months Lukas has been having recurrent breathing issues. He gets “sick” and struggles to breathe. He retracts, wheezes, and breathes incredibly fast (usually between 55-60 times a minute - highest is 85!!! Normal is 20-30) 
and we’ve ended up at our pediatricians often and the ER for extensive breathing treatments. Here’s what he looks like during one of those episodes. He was on four asthma meds when this happened.  
And here he is retracting between his ribs. Not good.
So after months and months of asthma meds, nebulizer treatments, etc. we saw a different pediatrician at our practice who thought that maybe Lukas was aspirating on acid from reflux which was causing his lung issues. An upper GI showed she was correct and we started him on reflux meds - which significantly cut down on the number of lung incidents. (We used to have about 4 days between episodes but now had only 2 episodes in four months!) He started sleeping through the night again - he was waking up because of the reflux pain. He also has other GI issues.

And then came the limp.

Out of nowhere, he started not bearing weight on one foot. We went into the pediatrician afraid that he had somehow broken his leg. They did xrays to see if he had some funky complication with his hip from taking so many sterioids for his lungs. X-rays were negative and he started walking normally a few days later.
A week later, it happened again. This time, it earned us an emergency consult with a neurologist.

The Neurologist was obviously concerned with the limping, and Lukas’ unsteady gait. He walked (and still does) like he had just learned how, but by this point he had been walking for 8 months. The initial thought was that he had a lesion or brain damage in his cerebellum (lovely, right?). We were scheduled for a MRI and EEG and both those were negative. They also ordered extensive bloodwork to rule out Muscular Dystrophy and other related disorders. Everything was negative. This was the first mention of a mitochondrial disease.

In the middle of this work up, we were sent to a Developmental Pediatrician who diagnosed Lukas with PDD-NOS (autism spectrum) and recommended a full neuro work up. He was also diagnosed with Hypotonia.

Lukas has low muscle tone everywhere but in his lower legs. Those muscles are big for his size (which is why they thought he had Muscular Dystrophy). When Lukas gets tired, he slouches and plods along and sits VERY hunched over. It’s as if he’s just out of energy to keep himself upright. (This is why I’m adamant that he naps!)

Now, we seem to be jumping from one health crisis to another.

Five weeks ago, Lukas got a mosquito bite next to his eye which led to periorbital celluitis. Thankfully we caught it early enough to be able to treat it with antibiotics at home as this landed a friend of ours in the hospital for a week!
Then, right before we were supposed to leave for our annual visit to see his biological grandparents, he broke out in horrible hives that lasted for days. The red ears in the picture below are from huge welty hives.

 He scratched so hard that the hives bruised and these lasted for a week or so.
Three weeks ago, he contracted a mycoplasma infection which left him with a fever for eight days and a pneumonia-esq cough/lung problem.

Then we went to visit with Neurology. After reviewing his tests results, the Neurologist thinks that Lukas possibly has a Mitochondrial (Mito) Disease. He wants him to have a muscle biopsy as the next step. There are really only 2 places to get a muscle biopsy (the standard in diagnosing/identifying type of Mito) - Cleveland or Atlanta. We don't have another appointment until August when our Neuro hopes to have all the details worked out. Hopefully they can work something out with our insurance (actually good insurance) because it is out of network and would cost us 60% of the total cost.

We are obviously concerned as the prognosis for this disease is not good. Many of the children with mito do not live to adulthood and have serious health issues and rely on supportive devices (feeding tubes, wheelchairs, etc.) to survive.

We're consulting with another neurologist (tomorrow) to see what his thoughts are on the whole Mito issue. More soon.


Lindsey said...

This is heartbreaking to see it all laid out. I know Lukas is a trooper, but I'm sure it's unbelievably hard to watch him live all of this. I will pray for answers from your new neurologist, and that Lukas will overcome these obstacles.

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