Posts Tagged ‘mitochodria disorder’

Summer medical update

Monday, August 15th, 2011 by by

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. (more…)


Long time no post

Monday, July 25th, 2011 by by

I took some time off blogging, but I’m back :)

Ava’s medport went in just fine.  With the exception of strep colonization at the port site, all is well.  She doesn’t love being accessed at all, but she’s getting less terrified.  Her Mitchondrial disease is starting to progress.  Her liver is enlarged, her motility is terrible, she’s acidotic, etc….  She’s now on neurontin for chronic nerve pain (neuropathy).

She’s also sweet, happy, and spoiled rotten.

Her heart is showing some effects, mainly thickening of the valves.  Cardiology wants her tested for Danon disease (Lamp-2).  GI wants a liver biopsy.  Neurology wants a lumbar puncture.  I’m sure I don’t need to tell anyone my thoughts on these tests.  We are having a big appt with multiple specialties next month to get a game plan.  If they all decide these tests are needed, they WILL be done at one time, and they will get everything needed, because they will NOT repeat these tests again.

I hate this

Friday, February 25th, 2011 by by

This disease is terrible.  So many children are suffering from it.  Please pray for Maggie and Cooper as they fight end stage Mitochondrial disease.

She Needs a Beak

Sunday, February 6th, 2011 by by

I’ve been a terrible blogger lately. I’m sorry.

Ava had a week of appointments this week. We have successfully restarted G tube feeds again. She is continuous 21 hrs a day with one mini bolus. The trick is keeping her blood glucose up, and we are still walking a fine line with that.

Some of her GI biopsies came back. Ava has been diagnosed with Eosinophilic Esophagitis. She has eosinophils in her colon as well. After her special needs and gastro doctors discussed it, they decided not to treat it right now. We are watching it. Our first priority is glucose levels. She’s on Peptamin Jr, which is a good EE formula anyway. We can’t afford to lose the complex carbs.

I had a heart to heart with genetics. They fully believe there is something more than her Mitochondrial disease going on with Ava. They have voiced this several times. She is constantly being poked and prodded. Her results are always “weird”. I’ve asked them to put further testing on hold for 6 months. Ava needs a break.

The weather has been terrible, so we’ve been in the house as much as possible.  I hope everyone is enjoying their Winter:)  I am ready for Spring!!

Christmas is over

Saturday, January 1st, 2011 by by

Now that Christmas is over, we are so ready for Summer!!


Dakota and Christian are loving their Christmas break, playing video games all day.  They are both doing great!  They keep me grounded when I need to be. :)

Ava is doing ok.  We’re battling hypoglycemia and energy problems lately.  She’s going to start going to  the Neurometabolic clinic.  I’m hopeful that they will have some answers.  Some of her symptoms are not usually seen with the mitochondrial disease she has.  They are thinking she may have another Mito disease called MNGIE.  She’s having another MRI of her brain on the 11th of January.  She’s also having some increased seizures and will be getting a 3-5 day VEEG.  She’s always had constant retching, but we’ve been venting her Gtube with a Farrell bag.  She remains on 24/7 Jtube feeding to maintain blood sugar levels.  She takes zofran daily, which is a godsend! :)

You can tell from her picture that she really has happy days, goofy days!!

Keeping Up

Saturday, August 28th, 2010 by by

I know I’ve been MIA lately. Things are busy with back to school for Dakota and Christian. Ava’s appointment schedule is tiring. Today was hematology clinic. This specific doctor was one of the doctors that cared for me when I was Ava’s age with Neuroblastoma. She’s treating Ava for her ANC counts and anemia. She’s considering IV iron for Ava. We don’t know what’s causing the neutropenia. If it’s Mitochondrial disorder related, the treatment will be tricky. A bone marrow aspiration will be done the next time her ANC drops below 500. We need to know if the problem is her bone marrow or not.

Ava isn’t feeling great. Her G-tube and muscle biopsy surgery is Wednesday. She’s sleeping way more than she should. She plays for a few minutes then wants held for an hour. 4-6 hour naps everyday combined with smaller “cat naps”. She also sleeps 12+ hours at night.

I’m trying to keep caught up in blogland, but it’s difficult right now. I hope I’m not hurting anyone’s feelings. Everyone is in my thoughts.


Saturday, July 31st, 2010 by by

We just got home from another stay at Children’s.  Ava’s blood glucose levels were 41, so she was admitted for a few days.  Genetics says this is how Mito effects some children - dysmotility and hypoglycemia.  She’s having the big muscle biopsy at the same time as her gtube placement.  We’ll find out more when the results of that biopsy are back in a few months – it takes 2+ months to get results!


Some answers

Thursday, May 27th, 2010 by by

When Ava was in-house last month, Genetics did some preliminary Mitochondrial workups. They even sent some blood to the Mayo Clinic. Some of these tests have given up some answers. It looks like Ava has a Mitochondrial disorder (the Dr is 99% positive). They have ordered a muscle biopsy to be performed this Summer to help pinpoint which disorder she has. Some of these Mito disorders are degenerative, some are not.

She is also back down to 22 pounds and talks of a g-tube are back on the table. Other than that, She’s doing well. She’s a goofy little thing and is happy most of the time. And oh, so stubborn!

Happily home

Tuesday, April 27th, 2010 by by

Ava spent the weekend in-patient again.   We spent some time with Endocrinology and Genetics.  Genetics actually spent anout 90 minutes talking with me today.  Hypoglycemia and blood glucose checks every 2 hrs left her miserable.

They are now worried that Ava has a Mitochondria disorder due to so many different health problems.  It was explained to me that Mito is more widespread than (more…)