Abigail M. - Quilt Finished in 2005

Born: July 28, 1993

Illness: Mitochondrial Disease

A Thank you from Abigail's Family!

Written January 25, 2005

THEY ARRIVED TODAY!!!!!!!

As I type, all three kids are snug in their beds, wrapped in their amazing, beautiful quilts with their little heads on their wonderful pillows  :-)

What an awesome experience to open the boxes and see and feel the love that went into each one of them.  I am absolutly blown away.....they were amazing in the pictures, but 10 times that in person.  The kids and I all sat stunned as we pulled each one out of the box and then spent forever looking at each square, one by one.  Each one of their spirits.....the little things that make them who they are......were captured so amazingly.

We then sat with their dad tonight when he got home from work and shared it all with him too.  The smiles in this house today were huge and all our hearts deeply profoundly touched.  Thank you from the bottom of our hearts and souls.

BIG hugs,

Heather M., proud mom to Chance, Madison and Abigail

Abigail's Story

written by mom Heather

Abby was born after a very typical pregnancy and a problem free labor and delivery weighing a healthy 8 pounds and symptom free. Unlike her siblings, Abby met all of her early developmental milestones earlier than expected and other than some mild colic for a short time her first year, progressed beautifully.

During her second year she was a very typical "busy" toddler and continued to progress developmentally as would be expected. By her third year though, her "busyness" started to become more of an issue and she began sleeping less and less. The lack of sleep began to cause a whole host of behavioral and sensory issues and at one time there was a strong suspicion that she too might be somewhere on the autistic spectrum like her brother. Thankfully though, when we were able to get some control over the sleep issues, many of the "autistic-like" symptoms diminished enough to be something we could deal with. It was around this time that her being ADHD became more obvious, however very manageable here at home.

It was during her third year that her siblings were diagnosed with Mitochondrial Disease and while not confirmed, there was a strong suspicion that it was maternally inherited, so we knew that Abby too most likely had it, however when it would begin to present itself was impossible to know. We prayed daily that it would be sometime far in the future and because she had done so well to this point, there was reason to hope it might well be.

Mitochondrial Diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the life of the person in whom this is happening is severely compromised.

At 4 we began seeing issues that were awfully suspicious of Mitochondrial Disease in her, though we were very resistant to saying that's what it was. We were still working on how to keep her sleep issues under control and she began having episodes where it felt like her feet were falling asleep. Problem was that it was not positional, so it was difficult to figure out why it was happening. When she had her well child check up and we shared what was happening with her feet, her pediatrician decided that with this and her sleep issues not being totally controlled, it was time for her to see a neurologist, her first specialist.

Thankfully we really like our neurologist and since he sees Chance and Madison also, he was more informed than most on what he was probably seeing in Abby. The testing done indicated that her feet falling asleep was a form of neuropathy (nerve issues), that her ANA was positive, and he more officially diagnosed her ADHD. Her sleep study however failed to give us information on her sleep issues, though we did find a way to treat them that remains reasonably successful to this time. While we all had our suspicions that all this was the first indications of Mito in Abby, they are common enough issues that we continued to hope they were unrelated.

In 2003, symptoms continued to appear. She developed severe reflux that has been impossible to control, began developing symptoms of a vitamin deficiency, began getting sick more frequently, and in June 03 lost night time (and sometimes daytime) control of her bladder after three years of being fully potty trained. Her neuropathy spread to involve her hands also and it quickly became tougher to ignore the implications.

In October 2003, at 5 years 10 months old, we took her along with us to see a Mito specialist at the Mayo Clinic in Rochester, MN to determine officially if what we were seeing was Mitochondrial Disease related or not. While we were there it was discovered that she has a Carnitine Deficiency, is deficient in multiple vitamins, has a spastic bladder, and that her gastric emptying is slowed which is in part why reflux control has been so difficult to gain. When all was said and done she was officially diagnosed with Mitochondrial Disease also.

While more mildly affected than her siblings, she faces challenges on a daily basis and has endured already a whole slew of tests with many more to come on our return to Mayo in early March. I honestly expected her to be the most outspoken about her dislike of the tests than her siblings who've been going through them for some time now, but much to my surprise (she surprises me a lot) she has been incredibly brave and more okay with it all than Chance and Madison have ever been.

Abby is an energetic, entertaining little girl who is truly my husband's and my sunshine. She knows what she wants and (most of the time) how to get it, loves being the center of attention, and can soften even the hardest of hearts with her smiles and antics. She has been incredibly brave and stoic as she's faced the new challenges that come with her new symptoms, the testing needed, and the treatment for them and like my other two children, truly inspires me.

Like her siblings, she's being homeschooled this year and is a very bright child who is learning quickly as long as we keep her on task. She has a huge imagination and keeps us all entertained.

Written by mom Heather in February 2004