Last year, when I was diagnosed with multiple sclerosis, my initial, primary diagnosis came not from my primary care physician or neurologist. It came from my eye doctor. Subsequent testing proved he was right, but not before I heard some rather snide comments from my primary doctor that my ophthalmologist was not qualified to diagnose MS.
Never mind that 90 percent of the patients with multiple sclerosis have optic neuritis and have to be treated by an ophthalmologist. Nope, didn’t matter. My doctor thought he knew better than my eye doctor and even said that the ophthalmologist didn’t practice “real medicine.”
I probably didn’t help the matter when I pointed out that my ophthalmologist is also a surgeon, something my primary care physician is not qualified for, but he made me angry. I had seen the magnetic resonance imaging (MRI) of my brain and the report from the radiologist. I had all the symptoms. Yes, I needed to see a neurologist for treatment, but his attitude that my diagnosis was somehow suspect until another specialist confirmed it lead me to look for a new primary care physician. I wanted one who was willing and able to work with my other specialists.
Now, I find myself in the unenviable position of having to tell a distraught mother that she should consider finding another doctor for her eight-year-old daughter. Last week, she took her daughter Ryleigh in for a routine eye exam. Ryleigh is a healthy kid, just had her back-to-school and sports physicals and seemed a picture of health except for some minor skin discoloration on her legs and a strange rash occasionally across her face. Both of those had been discussed with Ryleigh’s primary doctor and he seemed unconcerned.
Then, Ryleigh saw an eye doctor. Since it was just an exam for glasses, her mom made the appointment with an optometrist. He didn’t like what he saw, but he didn’t know what it meant. Ryleigh had tiny white spots on her retina, the portion of the back of the eye that is most responsible for sight. The spots didn’t seem to be affecting her vision, but her mother and her optometrist weren’t taking any chances. Ryleigh was given an appointment to see an ophthalmologist within the week. After giving Ryleigh an exam, the ophthalmologist had a multitude of questions for her mother and a referral to St. Louis University Medical Center for additional testing. The doctor asked if Ryleigh had ever had seizures or behavioral disorders, like attention deficit problems. He asked if she a rash on her face or patches of uneven pigmentation, frequent headaches, or a history of kidney trouble.
Mostly, Dana, Ryleigh’s mother, was able to say no, but she said yes often enough that he was fairly confident in his diagnosis. Ryleigh, most likely, has tuberous sclerosis, a genetic disorder most often caused when one of the genes mutates. It is sometimes inherited, but often appears with no family history.
If her diagnosis is confirmed, Dana will count Ryleigh as one of the lucky victims of tuberous sclerosis. Often, it comes with autism, mental retardation and epilepsy. Ryleigh does well in school and has never shown any signs of epilepsy. All the latest research shows that children with tuberous sclerosis who do not have those problems early in life usually do not develop them, so she may have avoided some of the brain-related consequences of the disease.
But that doesn’t mean Ryleigh is out of the woods. One of the defining characteristics of tuberous sclerosis is that it causes the body to create a protein that forms tumors on the internal organs and brain. The tumors are almost always benign, but they can cause a multitude of problems by their very existence, the most fatal of which can be kidney disease.
Once he gave Dana his initial diagnosis and information on the disease, the ophthalmologist ordered additional testing, complete MRIs of the brain and internal organs to look for evidence of tumors, referred her to a specialist in the nearest city (St. Louis) and sent her back to her primary care physician. Then, like me, Dana had to deal with the inherent arrogance and jealousy of some members of the medical profession. so much for professional respect and courtesy.
Ryleigh’s primary care physician insisted the ophthalmologist was wrong and that there was nothing to worry about. All the major websites about the disease say that evidence of two major or three minor symptoms of the disease is enough for a diagnosis and that the primary method of diagnosis is through the skin and eye abnormalities.
Ryleigh has one of the major systems, the very specific type of facial rash, and three minor symptoms. And, her “regular” doctor’s reasoning for saying that the he disagreed with the diagnosis? He hadn’t seen a case in 20 years.
Both Ryleigh’s mother and aunt work in the medical field and have spoken to numerous medical professionals since Ryleigh’s preliminary diagnosis. The reality is, the disease is very rare, an unexplained genetic mutation. And, Ryleigh appears to have a very mild form of the disorder.
But, as a family friend and not as emotionally involved, and with my own recent medical experiences, I find myself in the position of recommending to Dana that she find Ryleigh a new doctor. If this is the correct diagnosis, Ryleigh will need a specialist who understands the intricacies of the diagnosis and the types of periodic screenings Ryleigh will need to undergo to chart the symptoms and counteract them.
Even if it turns out the ophthalmologist is wrong, Dana still needs to find Ryleigh a new doctor. Dana has been asking about these symptoms since Ryleigh was born and it wasn’t until she saw someone else that the doctor took her concerns seriously. That in itself is enough to demand a new doctor.
Dana will have to wait about a month for Ryleigh to see the specialist in St. Louis, but her MRIs are being done at the local hospital next week. The MRIs should be enough to confirm her diagnosis. In the meantime, Ryleigh’s aunt and I are looking for a good pediatrician who listens to the concerns of parents.