OUR JOURNEY THROUGH A DIAGNOSTIC ODYSSEY, HEARTBREAK, AND HEALING THROUGH ADVOCACY AND AWARENESS
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- Hector Rose
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1 OUR JOURNEY THROUGH A DIAGNOSTIC ODYSSEY, HEARTBREAK, AND HEALING THROUGH ADVOCACY AND AWARENESS
2 PATIENT DIAGNOSIS AND ADVOCACY STORY Sawyer was a normal happy boy outside of a few seemingly common childhood ailments. He was born with an undescended testicle, which was surgically repaired at age one, and diagnosed with strabismus at age 2, which was also surgically repaired at age four. Both are symptoms of ALD. He was an energetic child who loved the water, anything with a ball, and playing with his big sister. He joined the Vista Little League at age 5 and was a natural at it even winning an award for Player with the Best Arm. Sawyer wanted to play professionally when he grew up.
3 SAWYER S DIAGNOSTIC PATHWAY Sawyer began having difficulties in school and his teacher suggested that he be tested for ADHD Little did we know that ADHD does not come on suddenly and could be a sign of a neurological problem Sawyer woke up with eye pain and nausea with no fever several times over the course of a couple weeks The pediatrician diagnosed him with a recurring virus. No blood work was performed. Sawyer woke up with a severe headache and was now diagnosed with childhood onset migraines I asked for a CAT scan to confirm there wasn t something causing all of these problems to show up over a relatively short time Pediatrician said he did not suspect anything neurological and that the test would be an unnecessary expense
4 THE FIRST TIME I EVER HEARD OF ALD 3 weeks later Sawyer woke up with another migraine and a 104 fever We rushed him to after hours care and was told he most likely had spinal meningitis. Paramedics were called and Sawyer was transported to the San Diego Children s Hospital where a CAT scan revealed he had an accumulation of white matter. While trying to determine what was making him so sick he was seen by endocrinologists, doctors of rare and infectious diseases, neurologists, neurosurgeons, interns, fellows, and geneticists. No one had a clue what was wrong. Kept in a medicated coma for a week, he was finally stabilized and taken off life support At some point they realized Sawyer had experienced an addisonian crisis, or acute adrenal failure. They then did an MRI which, along with the blood test, confirmed the neurologists suspicion that Sawyer had adrenoleukodystrophy.
5 FOLLOWING THE ALD DIAGNOSIS The neurologist felt that Sawyer s condition was far too progressed for a bone marrow transplant, but we were determined to not sit back and do nothing. When given a death sentence one would try most anything However, it took a long time to start the process of preparing for the bone marrow transplant: 1 month to get an evaluation scheduled for the bone marrow donor status Another month to get the neuro-psyche test (which, by that time he failed) Took a long time to see the endocrinologist and get a referral and an appointment to see a metabolic doctor All the while, we were watching Sawyer deteriorate before our eyes We tried natural supplements and acupuncture to help support his body Searched continuously for possible treatments spent hours on the Internet and phone with ALD specialists At that point, I knew that if I could help other families avoid going through this frustration and desperation to get answers and treatment for their child, then that would be my mission in life.
6 JOY OUT OF LIFE MAY 2003 MARCH 2003 JUNE 2003 AUGUST 2003
7 MY MOTIVATION There were signs that should have pointed to ALD, but they went unnoticed due to lack of education and awareness about ALD. Our journey was exhausting, devastating and aggravating no other family should have to go through this. I Founded FIGHT ALD in May of 2004 Our mission is to Fight Illness Through Education by raising awareness about ALD and eventually screen all newborns
8 THEALD AWARENESS ACROSS AMERICA TOUR Traveling across America to hospitals and healthcare facilities to raise awareness about ALD Original idea Children s Hospitals, 48 states, 7 months Actual accomplishment - 3,200 medical facilities, 44,000 miles, across 48 states (+Hawaii) Exhibited and handed out information at over 40 CMA Conferences Distribute educational brochures at community events and fundraisers
9 WHAT I VE LEARNED ALONG THE WAY! Physicians I meet at conferences who have previously or are currently treating ALD/AMN patients are more eager to engage in conversation about the disease than those unfamiliar with it Those who have not heard of ALD or know what the symptoms are, are more likely to take an interest when I share: My personal and emotional story The staggering statistics that show ALD really is not that rare That a simple blood test can diagnose patients Some Surprising Statistics A baby is born with ALD about every 36 hours Approximately 35-50% of males with Addison s disease will have the ALD gene ADD/ADHD is the primary misdiagnosis for ALD in boys Many boys do not get diagnosed until they have a Grand Mal seizure or complete adrenal failure 33% of adult males with ALD will also develop cerebral deficits Anyone with the ALD gene will have some form of the disease
10 QUESTIONS?
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