Check out this mission statement from the Aware of Angels website:
Aware of Angels would love to welcome doctors, therapists, colleges, universities and medical schools to be part of this organization. So many of these children are affected with rare syndromes; most of these children need someone interested in their condition to carry out research. We need cures, treatments and the prevention of genetic disorders. A cure for genetic disorders may not come easily but treatments are very much needed. With fine- tuning of genetic testing, the near future is going to be flooded with newly discovered genetic disorders.
I shared Aidan’s clinical story there recently in hopes of finding other families with PURA gene variants and peaking the interest of researchers. It’s exciting to be on the cutting edge of science.
Aidan – 13 years old
Diagnosis-Unknown. Developmental Delay, PURA gene variants
Maine, USA Birth: I had a normal pregnancy, labor and delivery with Aidan and his Apgars were 8 and 9 respectively. He would not eat and so was transferred to the NICU. Aidan had significant central hypotonia and soon required oxygen to support his breathing. He underwent extensive genetic and metabolic testing, had a muscle biopsy and MRI. All tests were unrevealing. He had a nissen fundoplication to fix his reflux and a g-tube placed for feeding. After three months Aidan came home with O2, g-tube, apnea monitor, and still no answers…..
….read more at Aware of Angels
My oldest, this boy who made me a mother, was created very much in my image.
The long, lean build, the oval face, and narrow hazel eyes. He’s my reader, the first child to sit on my lap for hours and look at picture books. As time went on we would take turns reading and finally snuggle side by side each lost in our own fictional world.
Years of soaking in words gave my oldest a proficiency of language that leads not only to him being an accomplished academic, but also a master of the one liner. This child who made me a mother can match my banter and wit tit-for-tat. We get lost in our own silly world together and it’s wonderful….
…continue reading on this wild and precious life
Food for Thought – November 17, 2014 Edition
What I Learned About Love as a Pediatric Nurse - On the Huffington Post
I believe in love the way I have come to believe in Dopamine, Lasix, and ventilators. I have learned a lot about medicine as a nurse, but I have learned more about the power of the human condition, in these cramped rooms full of machines and prayers.
When the Diagnosis is Rare, Parents May Know More than Professionals - NYT
“Parents — and patients themselves — can be invaluable assets in making great breakthroughs in patient care, especially with rare diseases,” said Dr. Ellen Rome, head of adolescent medicine at Cleveland Clinic Children’s. “Families represent a motivated group striving to find what is best for their loved one, and may have the time and energy to sift through information to find that one pearl that helps a child or adolescent turn the corner.”
When You are Afraid – On Genetic Testing and Muscle Memory - Michaela Evanow
You see, when your first child is diagnosed with a deadly disease, all you know is grief and fear when it comes to mothering. When someone says, Don’t worry, I have to acknowledge that all I know is worry. And that’s okay. My motherhood journey so far has been full of it. I had two blissful, worry free months when Florence was a newborn, and then it all crashed. My muscle memory is caught up in the ugly and the hard, so it keeps going to that place.