Summer medical update

I thought it was time to do a medical update, keeping in mind that we don’t know more than we know. Here’s what we know right now:

We know she has a Mitochondrial disease (ETC1), and many doctors feel she has multiple Mitochondrial deficiencies, including MNGIE. Her diagnosis was made with a muscle biopsy. A liver biopsy and lumbar puncture are being planned for this Fall.

She has Eosinophilic Esophagitis/Colitis. Right now it’s mild.

She has severe hypoglycemia. Her blood sugar will drop while on continuous feeds (via feeding tube/infinity pump). She does not respond to glucagon, acarbose, corn starch (or polycose). She will drop below 25 with no symptoms.

She does get acidotic and does have ketones.

Her liver is enlarged. Labs are elevated. She has a substrate defiency, but which one?

Her bowels are an issue (no big surprise). I could write so much more on this… Dysmotility and malabsorption.

Neuropathy is a chronic problem. Her feet and legs hurt every single day. So does her head.

The valves in her heart are starting to thicken; she now sees the cardiomyopathy clinic.

Tracheomalacia/Laryngomalacia is still a concern. She still requires oxygen. She also has RAD.

Growth hormone deficiency. She is -.05% for height. Yes, negative point zero fifth percentile. She was taken off Growth hormone therapy because of increased pressure in her head. On a positive, she is gaining perfectly thanks to her feeding tube!

She is being tested for Diabetes Insipidis as soon as we can think of a safe way to test her. A water deprivation test isn’t a good idea for a child that can’t fast. She will drink hundreds of ounces a day….and pee even more.

She has chronic fevers (is it autonomic or cyclic?) and chronic Neutrapenia. Not at the same time. She’s anemic. Her amylase is high. She tested negative for SDS……

Her motor skills are status quo. She still requires AFOs. Her physical (gross motor) tests at 19-24 months. Left side is much weaker. No unassisted stairs, kicking, jumping, etc. Very wobbly at times. Balance is an issue.

Seizures are still there. Absence seizures and possible drop seizures.

Sleeping 18-20 hrs a day (at least 2-3 days a week), worsening eyesight, GERD, temperature controlling problems (too low), and a few other things round out her struggles.

Let’s face it: Mito is the cause of most of her problems. There is no cure and no real treatment. We treat the symptoms with meds like Neurontin. It’s sad that my 3 year old needs these medications, but they help her feel better. She’s a happy little girl, she rarely complains, and (by Mito standards) she’s doing pretty good.

Leave a Reply

1 comment

  • Hi Hope:

    I just read your blog and I have a two year old with similarities. she is just labeled keotnic hypo but she is possible having seizures and collapse. We are trying to find answers. If you have time I would love to get some ideas. We have a appointments coming up this next month. Thank you.