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Melissa B, Undiagnosed Daughters

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undiagnosed4

 

Hi everyone, I never imagined that I would wake up this morning to a life changing realization. I have spent years asking doctors what is happening to my child with no amswers. She was just 5 years old when she began to display cushings symptoms. At the time we repeatedly raised concerns with our pediatrician about her dramatic weight gain specifically in her belly area which made her appear pregnant and a once advanced child was regressing academically but the doctor’s constantly told me not to worry because all children develop differently they said. By the time she was 9 years old she began to display the following symptoms:

1. More weight gain focused in the belly area, face, and back (buffalo hump) with the belly area being firm and her face having a slightly swollen appearance.
2. Dark Black skin around her neck and areas such as in between legs and tummy area
3. Complete loss of hair on her head
4. Complete loss of eyelashes
5. Continued Slow learning in school
6. Depression and Anxiety
7. Lots of hair on arms, legs, and pubic area
8. Acne
9. Stretchmarks

She has been teased brutally in school and after having her go through many tests with no answers I ran across the possibility of her having cushings. Since we have seen two endocrinologists and both have run saliva and urine tests and have said she doesn’t have cushings, thyroid issues, diabetes and so on and so on.

Now my 8 year old is having the same symptoms as her sister. Today i noticed that she is now losing her hair too and I’m absolutely devastated. We need answers and I don’t know where else to turn.

If anyone out there is reading this and can help me get answers please I’m begging you to please reach out to me.

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Elizabeth C (Moonface1561), Pituitary Bio

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The pituitary gland

The pituitary gland

High schoolvl senior, I was finally diagnosed with Cushing’s Disease. Extreme leg pain, rapid heart rate and overall sick feeling drove this 17 year old nuts. Huge moonface, buffalo hump and torn skin on torso, stomach, thighs and arms did not help.

By the Grace of God, a brilliant pediatric endocrinologist found me and sent me to UCSF for transphenodal surgery. There, other genius pediatric physicians gawked at my monster appearance. The famous Dr. Charles Wilson went into action.

Six years later, my tumor grew back with a vengeance. My cortisol levels reached 3000 as a ferocious candida infection spread all over my body.

My second operation was followed with radiation treatments. I lost my baby shortly thereafter. Years later, childless and fatigued, I was informed that the radiation therapy caused the remainder of my pituitary gland to disintegrate.

I now have secondary Addison’s disease and nearly died one month ago from an acute adrenal crisis. I am lucky to be alive…..swollen and all.

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Survivor’s parents organize charity bike ride for Children’s Hospital neurosurgery

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La Cañada resident Taylor Winter was just 12 when she was diagnosed with Cushing’s disease, a condition caused by a tumor on the pituitary gland that affects everything from organ function and sleep to hormone levels and body growth.

Although she’d likely lived with the ailment for years, once it was discovered by an endocrinologist, Taylor’s family had to act fast to remove the tumor. That’s when they were referred to Children’s Hospital of Los Angeles’ neurosurgery division, according to mom Gaia Winter.

“We met with neurosurgeons to see what her options were, and eight days later she was in surgery,” Winter said, recalling the two surgeries it took to remove Taylor’s tumor.

Today, Taylor is an 18-year-old freshman studying theater arts at North Carolina’s High Point University. Her life may not be perfect (she still endures complications from her condition and surgeries) but she knows it’s better than it would have been had the tumor gone unchecked.

“I was not in a happy place before I got treatment, and I think it would still be that way today if I had gone undiagnosed,” she said in an email interview.

This Saturday at 11:30 a.m., Gaia and husband Wade Winter are hosting a charity bike ride at the indoor cycling studio SoulCycle in Pasadena to raise money for Children’s Hospital’s Neurosurgery Ambassadors group. The group comprises former brain surgery patients and their families who wish to “pay it forward” by raising funds for the neurosurgery division.

For a $75 donation, participants can reserve a bike and take a 45-minute stationary bike group ride, although cycling is not mandatory, Gaia Winter said. The money raised will help sponsor neurosurgery fellow Dr. Judith Wong, who will take her training to a town where skilled neurosurgeons are few.

Michael Sampiano, director of the hospital’s Ambassador groups, worked with the Winters and another family to create the program in 2012. So far, the neurosurgery division has received $14,000 from the efforts of that group. Both Taylor and twin sister Alissa are junior ambassadors in the program.

“The money this group raises covers the training and living expenses of our pediatric neurosurgery fellow (and) it gives our neurosurgery division the financial backing to continue its work,” Sampiano said, encouraging locals to join in Saturday’s ride. “It is indeed an investment in the community and for kids in the future who might be in need of this life-saving work.”

Taylor says she was lucky to have such a skilled facility so close to home and recalls her time spent at Children’s Hospital positively.

“Even though I was in pain or discomfort for the majority of my stays, the hospital staff and various volunteer groups… helped create such a fun and caring environment that I didn’t want to leave,” Taylor said.

The Winters, along with other patient families, hope to raise $100,000 this year for the neurosurgery division through the Ambassadors group. It’s the least they can do to give back, after being given so much, Gaia Winter says.

“They gave her the ability to be a normal kid,” she said. “We just feel passionate about giving back to them. The amount of work they do and the lives they touch is tremendous.”

 

What: Charity Ride for the Division of Neurosurgery

Where: SoulCycle, 140 S. Lake Ave., Pasadena.

When: Saturday, from 11:30 a.m. to 12: 30 p.m.

Admission: A bike reservation cost $75 but all donations will be accepted.

More info: Visit http://support.chla.org/pages/thewinterfamily or email NeuroAmb@gmail.com

Jackie (samsmom), Adrenal Bio

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Jackie (samsmom) first started dealing with Cushing’s in her family when her youngest child was born in 1999.

Jackie has appeared on the Discovery Health tv show pilot, Mystery Diagnosis, discussing her fight for a cure for her younger daughter, as well. 
Download from amazon.com: Mystery Diagnosis

Later at the NIH, the gene (PDE11A) responsible for Sam’s illness was found. Her father carried the gene as did her two sisters.

Sam’s doctor at NIH, Dr Stratakis has written several papers on Sam’s case including one that was published in April, 2008. For more on PDE11A or iMad, please see A cAMP-specific phosphodiesterase (PDE8B) that is mutated in adrenal hyperplasia is expressed widely in human and mouse tissues: a novel PDE8B isoform in human adrenal cortex.

Jordan, Jackie’s oldest daughter, has recently had her adrenals removed. She had one removed laparoscopically and the other was an open adrenalectomy.

Listen to Archived Interview from May 15, 2008

Jackie last updated her bio 10/12/2009.  This is another Golden Oldie.

~~~~~~

On march 22nd 1999 Sam was born 5 weeks prematurely, weighing in at 5 lbs 11 oz after a difficult pregnancy and delivery. Sam didn’t ever ‘look’ right to me. I had had two daughters prior to Sam and never felt such a feeling of unrest and anxiety about a baby. The doctors assured me there was nothing wrong with Sam. She had enormous chipmunk cheeks and was bright red. She was very agitated and struggled with feeding due to the size of her cheeks. It was determined within the first 24 hours of life that Sam had “breathing difficulty” and trouble keeping her tempeture up. She was sent to the NICU the evening of her birth.

Around day three… Sam’s ‘pediatrician’ told me that Sam was having high blood pressure readings. A neonatologist was called in to observe her. Her pressures remained high and she was immediatly prescribed high bp meds. After weeks of increasing and adding additional doses Sam still had high bp. On day 18 she was transfered via ambulance to Seattle Children’s hospital.

She was catherized and given a 24 hour urine free cortisol test. She had necrosis so bad in her diaper area she almost lost concousness when her diaper was changed. Her bum was so raw and bloody it bleed through her plastic diapers down her leg. They lay her under a heat lamp and managed to make contact with the bulb to her skin. She got a 3rd degree burn. The 24 hour urine test was botched in the lab. Her hematicrit was 18. They sent us … home. On two different kinds of bp meds and a tube of desitin.

Sam was better off at home. We had a bp machine and monitered her every 4 hours. She was losing weight due to her feeding difficulties and she vomited anything she did manage to get down. Her bp slowly came down. We went to see an endo at about 4 weeks old who wanted to take blood out of her juglar vein for a blood test. All sam’s veins had collapsed at this point. I told him I would take Sam and jump out the window with her before I would allow the jugular blood draw. I left the building.

Over the course of the next month we realized we were on our own. Bill and I noticed that the bp was coming down so we slowly weaned her off the bp med and antibioltics(for the necrosis). Sam was rarely awake at this point and very frail and pale. We felt the meds were doing her more harm than good. We saw countless doctors who all came to the same brilliant conclusion; all these odd symptoms were simply due to her prematurity. Her serum cortisol at this point was 45. The so called doctors said she was under a great deal of stress, and dismissed the idea of Cushings syndrome. Because babies (even children) don’t get Cushing’s… after all.

At about 3 months Sam’s features started to normalize. The puffiness went slowly away… she began to feed better and the necrosis healed. Slowly she started growing but still vomitted most of her feeds. She screamed relentlessly and slept infrequently and for short bits… I sleep upright in a chair with Sam on my chest the first 9 months of her life. Sam awakened hysterically ever 2 hours on the dot. This continued until she was four years old.

Sam was slow to walk, speak, roll… she was small and thin and very crabby all the time. We trudged on… my other two daughters nearly invisible due to the needs of Sam. I knew Sam was sick. I knew there was something wrong. My husband diagreed with me. He told me to trust the experts. So reluctently, I did. Sort of.

At 19 months of age Sam, still waking every two hours, would be drenched with urine from literally head to toe. This was very strange. I ended up putting towels under her because I ran out of sheets. I slept in a cot in her room. With 10 days… Sam had gained 10 lbs. She was BRIGHT red and agitated. Her bp went back up… her appetite was vorocious. The only thing that soothed her was me rocking her back and forth and patting her back. She fell asleep to Ryan Adams “Stars go Blue”…she would scream until I repeated the song over and over and over…. She would hold her head and cry and cry… finally to sleep for two hours… the repeat.

We brought her to a new endo who thought she had prader wili syndrome. I explained she had gained 10 lbs in 10 days. He might as well have laughed at me. He said she was obese and had behavior problems. He told me it would take 5 weeks to get the PW test results back. When we did it was negetive. Though her cortisol was 49. Stress, he said, stress. By then Sam had shrank back down to her present weight and her chipmunk cheeks were gone. SHe still woke up every two hours and demanded ‘her song’ to get to sleep.

When she was well enough, I flew Sam to Arizona Childrens Hospital and visited with an endocrinologist in Scottsdale. This is the first I heard about cyclical Cushing’s syndrome. No tests were ordered as Sam was asymptomatic at that time. She remained Cushing’s free for about 6 more months.

At around 31/2 years… Sam went into a particularly bad cycle. She was so sick she couldn’t stand up. She sat and cried and cried and cried. Nothing could console her but that damned Ryan Adams song and her black cat Max. She gained 15 lbs in as many days. She got a face full of acne and stretch marks on her stomach. She rocked and cried and held her head.

About this time I posted my first post on this board. I was desperate, angry, terrified and sick with grief. I KNEW Sam was going to die. My posting was answered by the angels that are here… all agreed Sam had Cushing’s, all gave me strength and validated me… all were rooting for Sam. At the doctor the next day she had a urine test that showed protein in the urine. i was told to go to Children’s Hospital immediatly; Sam was diabetic. Huh?

I went in to the hospital raging. I demanded the endo on call…. I shouted at the fellow. I snapped at the nurse…. I kicked the bed out of my way….. and in walked Dr. Dan Gunther. Sam was screaming, I was screaming… he was calm. He sat down. He listened… he nodded…. I went on and on about Cushing’s and the board and the high bp and the acne and the necrosis and no one caring…. and the ‘Stars go blue’… for 2 solid hours. He took notes. I showed him pictures… I showed him what she had looked like 5 days prior…and 10…. He ordered an immediate ultrasound of her adrenals and sent us home with 3 jugs for 24 hour urine cortisols.

Dr. Gunther called me the next day (Thanksgiving) to see how she was. He told me he would help her. He told me he would help me. He told me “no one is going to die.”

Sam and I went to war with the urine tests. She was a champion. She was excessivley urinating at this point (and not night trained anyhow) so I woke her every hour to pee in a little bed pan. Soon Sam was standing up on her little bed, peeing in her sleep and hitting the repeat on her trusty CD player so she drift back off to her song.

Sam’s first 24 hour urine came in a 2900. Dr. Gunther admitted her for testing. He contacted Dr. Stratakis at NIH and followed the testing protocal recommended by him. All of Sam’s tests reveiled 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 posioned. 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.

The tests showed that Sam’s adrenals were in fact making the cortisol. I was cleared of any wrongdoing.

Dr. Dan sent us to NIH in February of 2003. Sam was not in a cycle at that time. Sam still tested positive for Cushing’s throughout 2 grueling weeks of testing. On the way home on the plane… Sam started shouting for her song… then she started eating all her food…. then my food…. then tried to get the guy’s next to me food…. I turned on “Stars Go Blue” and just ***knew*** she was starting a new cycle.

Within 10 days of arriving home and 3 more 24 hour urines it was determined that Sam was in a cycle. She gained 12 lbs. Dr. Stratakis told me via phone that she would need to have the bilateral adrenalectomy as she had tested positive for PPNAD. But first she would need to show high numbers AT NIH. They could only schedule us back the end of March… for the first time I prayed that Sam would STAY in the Cushing’s cycle…. Sam turned 4 on March 22, 2003. She got a guniea pig, a pony and twin kittens. She was too sick to care.

On March 28th we arrived back at NIH. Sam was coming OUT of the cycle rapidly, however Dr. S was very startled by the difference in her appearence.. I was insane with anxiety that she would have low numbers and be denied surgery. But my Sam pulled if off…. her 24 hour urines were around 500…. a little lower each day. Dr. S could actually WATCH Sam could out of her cycle.

Sam had a BLA on April 8 2003 (Harvey Cushings b-day and Cushing’s awareness day). Her surgery was successful. She stayed in the ICU for 16 days. 3 of those on an epidural for pain management. She was brave and strong and happy. She was all bubbles and smiles…. and didn’t have so much as a tylenol when the epi came out.

In Summer of 2005 the Discovery Health channel contacted me regarding a new show they were producing called “Mystery Diagnosis”. I agreed to tell Sam’s story along with Dr. Dan who had become one of our closest friends. Our show aired in November 2005.

In September 2006 Dr, Stratkis contacted us and told us he had found the gene responsible for Sam’s illness. Her father carried the gene as did her two sisters. I did not. Both of Sam’s sisters went back east for testing. Each were negative for active Cushing’s Syndrome.

In April of 2007, my eldest, Jordan (15 then) was back at NIH. She had had a 60 lbs weight gain during the school year. I knew what was happening. Dr. S’s tests confirmed it. Jordan had her left adrenal gland removed in October of 2007. There were complications and only one gland could be taken at that time. She recovered from that surgery within 2 weeks and we arrived home October 11, 2007. I recieved the devestating news that Dr. Dan Gunther had passed away. His death ruled a suicide.

During Christmas break Jordan began to get sick again. Her weight increased and her bp and sugars rose. I took it upon myself to find an endocrinologist and surgeon at Stanford University Advanced Cancer Center willing to preform her unilateral adrenalectomy. Dr. Jeff Norton preformed an open procedure and Jordan has recovered nicely. She has had little relief from Cushing’s symptoms and is still unable to go to school. Every day is a baby step for all of us. My life is a maze of pills 3 times a day for 2 kids at 3 different times. Forever.

Jordan and I will travel to NIH the last week of May 2008 for post op/6month testing. I am praying she does not have an active Cushing’s tumor on her pituitary.

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.

I miss my friend Dr. Dan everyday. My heart still aches whenever I think of him. I may never get over his death.

As I type this Jordan has just come in from a pedicure with her middle sister and Sam is watching Scooby doo… 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”.

 


Jackie and Jordan were the subjects of a Live Interview in the Cushing’s Help Voice Chat / Podcast series May 15, 7:30 The topic was Cushing’s in young people, the fight to diagnose, the amazing gift of a GOOD endocrinologist.

Listen to CushingsHelp on internet talk radio

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