University Medical Center Visit
Posted on
Tagged brad, medical : Update on the visit
Today was the day we had the appointment with the geneticist (Dr. Chris Friedrich) and the cardiologist (Dr. Jennifer Shores). It was interesting, but stressful. Bottom line (in case you don't want to read all the details below) is that the measurements and history that Dr. Friedrich took aren't conclusive without the results of the echocardiagram. If that test shows an enlarged aorta, the verdict will probably be that he has Marfan Syndrome. If not, he will be checked about once a year to determine whether this diagnosis was correct. In the meantime, he wouldn't be treated for Marfan and he wouldn't be restricted beyond his current restrictions due to his other problems. Even if he has Marfan Syndrome, he can have the surgery to correct his back. However, the surgeons will take precautions that they wouldn't have taken otherwise.
Details
Brad was bummed out when we got there because he wasn't allowed to take his algebra test as planned due to a mixup. He ended up taking it after all the medical visits for the day were done. He was certainly patient today considering our appointments ran so long that lunch didn't happen until after 2:00. All of us got headaches, but the difference is that he had to go take an algebra test with his headache.
We waited forever to see the geneticist , but when we did see him, he took his time and spent a lot of time with us. Dr. Friedrich said that if a patient has four or more symptoms of Marfan's, they take a close look. There are about 10,000 people with Marfan's in the country. He sees about 1-2 people per week to determine whether they have it and most do not.
Marfan's is an inherited disease, so family history is very important. Once it's in a family, it's commonly passed down. However, he said about 1/2 of the people with Marfan (a web site said 1/3 of the patients) are the first ones in the family with it. This is because it can be a new mutation. The gene that's messed up is big and very complex...lots of things can go wrong with it. I have no idea what he meant by this, but I wrote it down pretty accurately.
Dr. Friedrich said that labelling a patient with Marfan is not something he does lightly because it can affect the patient when he seeks insurance coverage. It would be a pre-existing condition that wouldn't be covered. While that issue is years down the road, it's a real issue.
He couldn't see any signs of the syndrome in our family. If it turns out that Brad has it, he recommends that siblings and parents get an exam and echocardiogram. That's because the problem is easy to treat, but when untreated, it can lead to blindness and sudden death.
He then did a physical exam of Brad. His "wingspan" (fingertip to fingertip when outstretched) was on the outer limits of normal (width of 181.3 centimeters and height of just over 173 centimeters). Brad has grown another inch since his surgery in July and is 5'8" while suffering from kyphosis. If he could stand up straight, my guess is that he would be 5'10" (1 inch taller than me).
Next, he examined his skin. Marfan patients typically have stretch marks somewhere. He examined his palette as they can have arched palettes along with elongated faces. Brad had none of these symptoms. He also doesn't have any eye problems which are typical.
Bottom line is that Brad has the bone related symptoms (flat feet, mild case of scoliosis, and pectus excavatus), but not the other symptoms. Kyphosis doesn't figure into the diagnosis. The telltale symptom will be the size of his aorta. That's difficult to measure and judge in a growing boy and the measurement may be complicated by the bar in Brad's chest.
Dr. Friedrich said that after the echocardiogram is read (probably Thursday), he and his wife (the cardiologist) will discuss it. A letter would go the next day with his opinion. I asked his nurse if she would call me with the results and read the letter since Rhonda is going out of town. She agreed and took my cell phone number.
Stay tuned for Friday...