follow up... I left Sam with her dad and 14 year old sister. "
This is how Jackie, Sam’s mother who posts on the cushings-help.com message boards as Samsmom, started a post. My heart sank when I read it.
At these message boards, we all know Sam (short for Samantha) Edgar even if we’ve never met her. She is near and dear to our hearts. Featured on the Mystery Diagnosis Season 1 segment, “Grasping for Straws”, Sam’s early childhood story paved the way for many of us to even hear the word “Cushing’s”.
The youngest of Jackie’s three girls, Sam was born on March 22, 1999 with “enormous chipmunk cheeks and was bright red” according the biography written by her mother. Immediately sent to the NICU for breathing difficulties, at day three she was diagnosed with hypertension. Increasing doses of medicines to decrease the hypertension did not work, and by day 18 Sam was transported to Seattle Children’s Hospital.
In her biography, Jackie describes the nightmare that she lived while watching her daughter get sicker and sicker with the high blood pressure, necrosis and more. No one was helping. By the second month of Sam’s life, she says “we realized we were on our own”, speaking of herself and her husband, Bill. Because Sam was born 5 weeks early, the countless doctors they saw all contributed her problems to the premature birth.
During the course of the first three years of Sam’s life, she cycled between being “small, thin, and crabby” to chubby, red, and agitated. She would gain 10 pounds in 10 days, have a high cortisol reading, and doctors would attribute that to overeating and high stress. The only thing that seemed to soothe Sam through all this was the Ryan Adams song "Stars go Blue". Jackie recounts playing it over and over to get her to sleep. Never did she sleep more than 2 hours at a time .
Still seeking answers, Jackie first heard the words “cyclical Cushing’s Syndrome” while visiting an endocrinologist at Arizona Children’s Hospital in Scottsdale. Shortly afterwards, Sam gained 15 pounds in as many days. Her round face covered in acne and her round tummy with stretchmarks, all she could do was rock and cry. Nothing consoled her but “that damned Ryan Adams song and her black cat Max”.
Jackie said, “About that time I posted my first post on [the cushings-help.com message boards]. I was desperate, angry, terrified and sick with grief. I KNEW Sam was going to die. My posting was answered by the angels [there]... all agreed Sam had Cushing's, all gave me strength and validated me... all were rooting for Sam.”
Accused of Munchausen’s by proxy, of overfeeding Sam, and more, Jackie had the fight of her life. No, of Sam’s life. The Mystery Diagnosis segment tells parts of it. Jackie recounts it this way:
Dr. [Dan] Gunther admitted her for testing. He contacted Dr. Stratakis at [the] NIH and followed the testing protocal recommended by him. All of Sam's tests revealed a Cushing's diagnosis. On day 3, Dr. Dan told me there was some suspicion among the hospital that Sam had been given mega doses of steroids and was being poisoned. I looked at him as though he had gone mad. He said that some docs felt I was giving her steroids. They thought I had Munchausen by proxy. I assaulted Dr. Dan verbally and he took it. Then he told me that he disagreed with them and kept Sam another day to prove that Sam's adrenals were the ones making the steroids, not Sam's mother.Sam and Jackie made several trips to the NIH for testing. Ultimately, Sam was diagnosed with primary pigmented nodular adrenocortical disease (PPNAD), a disease which causes the adrenal glands to make too much cortisol. On April 8, 2003 (Harvey Cushing’s birthday and Cushing’s Awareness Day), Sam had a bilateral adrenalectomy (BLA) to remove both adrenal glands. She would be on steroid replacement for the rest of her life. Adrenal crisis and emergency/stress dosing would be a regimen she and her family would always have to follow carefully.
The tests showed that Sam's adrenals were in fact making the cortisol. I was cleared of any wrongdoing.
Two years later, the Mystery Diagnosis segment was filmed. A little over a year later, Dr. Stratakis of the NIH contacted Jackie to tell her they found out what caused Sam’s problem. It was a gene handed down to Sam and her two sisters by her Dad. One sister and her dad remain symptomless. The older of her two sisters, Jordan, was not as lucky. She has had multiple trips of her own to the NIH and subsequent pituitary surgery and two unilateral adrenalectomies. She and Jackie were at the NIH for her yearly follow-up this past August when it all began. Here is a portion of what Jackie wrote:
Sam started vomiting early one evening after farm (day) camp. Her father gave her a 15 mg stress dose, then LEFT HER ALONE to go pick up our 14 year old from cheerleader practice. Sam continued to vomit and lose consciousness... he wisely realized she was in trouble and took her to Seattle Children's. ... He did not give her the IM injection and informed Seattle Children's that her 'stress dose' was 15 mg- which they proceeded to give my unconscious baby through an IV. He did NOT bring the emergency bag (labeled clearly and full of everything we need for AI + directions that is in each and every one of our cars). He also foolishly decided NOT to call me in DC OR call my mother, sister, or neighbor that are all fully aware of Sam's need for a 100 MG hydrocortisone injection in the event of adrenal crisis.This isn’t the end of the story. For page and pages of posts, Jackie and her family got support. But more than that. Folks brainstormed. How can we prevent this again? What are options we can use for ourselves, for Sam, for Jackie, for Jackie’s family? Everything from drills (similar to fire drills) to tattoos and more was discussed. And we all learned from this. Our Cushie family has many children, teenagers, and adults who could have a similar situation. We realize we all need advocates and we all still need to educate our medical helpers. We still must participate in our own treatment. Sometimes we really do know more than the doctors treating us.
Sam lay dying for 13 hours with Seattle Children's endocrinologists standing around watching and wondering why the continual 15 mg they were giving her wasn't working.
Finally. he called me. I was in O'Hare airport waiting for our plane to come home. I screamed she needed 100 MG NOW! He called Sam's endocrinologist at the hospital across town who immediately ordered 100 mg... it did nothing... her bp fell to 60/22. He ordered 100 more.... nothing....my plane was boarding... I asked the endo on the phone "has it gone too far? I know there is only a small window to be treated--can they bring her back?" I was told "I don't know". And THEN I boarded my plane for Seattle.
I'll spare all the details of my 5 hour incommunicado trip home.
I arrived in Seattle near midnight. I called from the plane asking is she was still alive. She was. She had had another 100MG of hydrocortisone at this point. But her organs might be failing; they weren't.
I endured the longest night of my life (and those who know me know just how scary that statement is)...and Sam pulled through. She was not coherent much when I got
there... but burst into tears when she finally recognized me.
Sam has had no residual damage from this event. We all wonder how and why.
My nerves of steel have rusted...I am beating myself up for not properly educating
this man (her father) as to the seriousness of our child's disease. We have dealt with Addison's for 7 years; but I have handled everything. Apparently the vials of solu-cortef with step-by-step instructions hanging on the bulletin board in the kitchen, medicine cabinet and in every vehicle somehow missed his attention.
My 14 year old has written an essay- "if I could change one thing" about this incident for her English class.
My heart is broken. I never want to see that again. I never want to be away from her again. I can't trust anyone with her--I am anxious sending her to school. I have taken a step 10 years back. I wish I believed in God. I don't think I have ever said that before, but boy, I do now.
Sam is now armed with a cell phone of her own with Jackie’s number and 911 programmed into it.
Jackie says in her biography, “I often wonder what happened in my other lives that dealt me such a tragic hand... whatever it was I hope it was fun. Sometimes I pretend I am a character in a Robin Cook novel... it isn't that far of a stretch.”
And she says, “I can hear Sam's CD still playing upstairs where she left it on... I swear to God it's playing Ryan Adams ‘Stars Go Blue’.”
To hear Jackie and Jordan interviewed by Mary O'Connor and Robin, listen on iTunes or on BlogTalkRadio