Through Minutes Matter – MCADD, I have had the pleasure of becoming acquainted with Heather Ross Wedding. Thanks to Heather’s introduction, I then had the honor of speaking with Dr. Charles Roe, a man whom each of us that has been touched by MCADD owe a great deal of thanks and appreciation. It is quite fitting to share this story with you in honor of Rare Disease Day.
Today, Heather Wedding is a 39 year old woman living with MCADD. She and her journey with MCADD are remarkable. Originally from South Carolina, she is the first person in the world diagnosed with MCADD identified with an acyl-carnitine diagnosis. Hence the introduction by Heather to Dr. Charles Roe. Dr. Roe diagnosed Heather Wedding.
Dr. Roe was born in Maryland, and is a graduate of Duke University, undergrad and School of Medicine. He then served on the Duke University School of Medicine staff for roughly 25 years. When I spoke with Dr. Roe, he told me how vivid his recollection was of meeting Heather at about a year of age. He described her resting on her mom’s shoulder, and reaching out to try to touch him as if she knew who he was.
Heather was taken to see Dr. Roe after slipping into a coma at about 12 months of age. Her pediatrician, Dr. Robert Walker, found fatty acid in her urine, hence her referral to Duke University’s medical center where she was diagnosed and treated by Dr. Charles Roe. Heather was formally diagnosed with MCADD at around 17 months of age. She then spent the majority of the next four years of her life at Duke. Her mom, Dianna (Ross) Elliott, completely dedicated herself to seeing that Heather got the best medical care possible and never once left her side through it all.
Heather describes herself as the “guinea pig” for medical testing that would ultimately reveal more about the rare disease, MCADD. Dr. Roe was such an inspiration to Heather that she is now in nursing school, with the ultimate goal of becoming a CRNA. She said that Dr. Roe let her shadow him in labs throughout her childhood. The love that he exhibited for medicine and the desire to help others led her to this field. Dr. Roe has been such a fixture in Heather’s life, he, alongside her dad, Tom Ross, walked her down the aisle on her wedding day. What a blessing Dr. Roe was to the Ross family, and as well to all of us that have been touched by MCADD.
The Ross family suffered the enormous loss of Heather’s older brother, Erik, on June 28th, 1980, when he was just shy of eight months old. At that time, Erik was diagnosed with “SIDS”. It was only after Heather’s diagnosis by Dr. Roe that an autopsy was ordered, and it was determined that SIDS was not the cause of death, but rather, MCADD. Heather was originally diagnosed with “Reyes Syndrome”. A urine test was done at Duke that showed an unusual compound known as Suberylglycinuria. This specific compound could only come from a problem at the level of Medium-Chain Acyl-CoA Dehydrogenase Deficiency, therefore this clue ultimately led to Heather’s MCADD diagnosis. This final diagnosis at 17-18 months of age of MCADD was ground breaking.
As a parent of a child with MCADD, it was very emotional hearing directly from Dr. Roe. It is absolutely amazing all that he has done in his lifetime. Dr. Roe went on sabbatical in the late 1970s, and traveled the world focusing on treatment for biochemical disorders. He trained himself in mass spectrometry, and discovered that when there was no technology to diagnose certain biochemical disorders, mass spectrometry was the answer. When he returned to the states, Duke purchased the first mass spectrometry machine in the US, which allowed him to focus on their diagnostic capability. Dr. Roe’s work eventually led to worldwide neonatal screening.
Thank you, Heather, for sharing your MCADD journey with me, and for the introduction to Dr. Roe. God Bless you both.
Beth H. Vannoy, Founder, Minutes Matter – MCADD
