Madison M. - Quilt Finished in 2005

Born: November 27, 1996

Illness: Mitochondrial Disease

A Thank you from Madison'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

Madison's Story

written by mom Heather

Madison was born full term after a normal, uncomplicated pregnancy. Throughout the pregnancy though her movements were minimal compared to her brother. She was born a good size but low tone and had some issues with blood sugar and temperature regulation early on.

She was in incredibly easy baby who never cried, just grunted when she needed something. She was diagnosed with Failure to Thrive at 6 months but we managed to increase breast feeding and she very slowly gained, falling from the 75% at birth to below the 5th% in weight for her first 18 months. At one year the hypotonia was more officially diagnosed as was a lack of deep tendon reflexes and we began therapy through Early Intervention. We noted during this time an unusual sweet pungent odor to her body.

At 2 years she was diagnosed with a speech delay and started speech therapy in addition to her Occupational Therapy for fine and gross motor deficits as well as Sensory Integration issues. Also during her second year she was diagnosed with overly large tonsils and adenoids, explaining her loud snoring, and a hearing loss due to chronic fluid in her ears. She had a tonsil- and adenoidectomy, ear tubes placed and a muscle biopsy at 2½. Muscle biopsy revealed a myopathy of some kind. Shortly thereafter a MRI of the brain was done that revealed a delay in myelination in one area of the brain. She remained very developmentally delayed from 2-4 years of age and was becoming more and more lethargic. She was not sick often, however when she was it took her twice as long to recover than her siblings.

Between 4 and 5 yrs of age she made wonderful gains developmentally, however began to have more physical issues. She started choking on liquids, was having troubles with walking any distance at all, and her lethargy was increasing. She was laying down 90% of the time and reduced her fluid intake so much that she was chronically dehydrated. During testing it was revealed that she had swallowing issues and silent reflux and it was determined that her swallowing issues were both structural and muscle related and getting worse.

In early 2001 she was diagnosed with a Mitochondrial Disease when we traveled to Cleveland, OH to see a Mitochondrial Disease specialist there. 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.

Additionally, she was diagnosed with peripheral neuropathy, an undersized brain stem, and Mitral Valve Prolapse with regurgitation while there. Shortly afterwards she had her first documented case of Acidosis and Autonomic issues in the form of heat and exercise intolerance were revealed. She's been on heat restrictions (cannot be in temperatures over 75 degrees) and exercise restrictions (can actively play for 10 minutes and then must rest). In November, she had surgery to place a feeding tube into her belly (called a G-Tube or Mickey Button) in order to address her lack of fluid intake and assist us in dealing with illness so she did not have to be hospitalized so frequently.

In 2002 her immune system began to not work as efficiently and she was ill every 2-4 weeks all year long and some evidence of possible learning differences has been evaluated for and confirmed. Thankfully having the g-tube meant we stayed out of the hospital almost all year!! After an increase in energy after starting supplements for her Mito, in 2002 she started getting lethargic again and it was finally decided at the end of that year to put her on Homebound status from school. She had a teacher come to the house to work with her a couple of times a week and then would attend school when she was up for it. She was sick less and had more energy since making that decision and it appears to have been a wise one. Her lethargy continues to increase, but has significantly slowed down. Overall 2002 was a year where her limitations became greater but we were fortunate to be able to make decisions that have allowed her to maintain her energy and health better. There is always a balance that has to be reached. She continued to be happy and content and thats the most important thing.

Early in 2003, very unexpectedly, breathing issues were discovered. She was diagnosed with late onset Tracheobronchomalacia, Chronic Lung Inflammation, and Micro-aspiration Syndrome and this brought more medications to her already growing list. This is very rare and difficult to treat and appears to be related to a loss of muscle mass and tone in her torso. Her lethargy has continued to increase so the decision was made to homeschool her for the 2003-2004 school year and this too has limited her exposure to illnesses and means she has been well more than she has been sick. All efforts are being made to limit stress to her system knowing that's one of our biggest enemies. We seem to be doing pretty well in this respect and her status indicates as much. In late 2003 we went to see a Mito specialist at the Mayo Clinic in Rochester Minnesota and he was able to add to what we've been doing in hopes of stabilizing her disease even more than we have been. There are changes in medications and other recommendations that we hope are going to help. While there we also saw urology and the GI doctor and it was discovered that she has nerve related constipation and nerve related urological issues that we're now attempting to control. Unfortunately, its very likely we'll need to begin catheterizing her daily sometime in 2004. She was, as always, a real trooper through some very difficult testing that needed to happen while we were there.

Madison faces each new challenge with such courage and dignity. She's been through many tests including MRI's, numerous x-rays, urodynamic testing, tonsil and adenoidectomy, ear tubes x 3, muscle and skin biopsy's, swallow studies, upper GI's, Pulmonary Function testing, and more blood draws and IV's than we can count. She sees 10 different specialists, most every 6 months if not more frequently. At the very young age she's very matter of fact about it all, knows the names of different medical instruments used, and handles her restrictions and limitations without complaining. She's truly an inspiration and you cannot help but marvel at her strength.

Written by mom Heather in February 2004