I have a new love - Dr. Richard Pauli. For a year now, I have foolishly ignored Tonya everytime she told me to make an appointment with this sainted man. Thank god I finally listened! (Tonya, I was wrong. You were right)
For those not familiar, Dr. Pauli is a genetisist based at the University of Wisconson with satellite offices in Akron, OK and Grand Rapids, MI. He has seen hundreds of little people and is well respected with in the community. He is the doctor to see if you have a child with dwarfism. He also attends national and regional LPA conferences to speak, hold workshops and see patients. Did I mention that he considers himself part-time now?
We dragged our butts out of bed at 5:00 am in order to leave by 6:30 in order to get to our appointment at 8:30. Uuugggg. Even Owen was asking for coffee at that hour. Don't worry, we didn't give him any. We gave him Red Bull instead.
So here's the low down on the O according to Dr. Pauli.
Owen is ahead in gross motor development which means he is in-line with average height kids. Out of his 400 patients, Owen is the 2nd fastest to walk. A head to toe exam showed good muscle tone, strong joints and good reflexes. There was no clinical evidence showing neurological problems. His ear drums are "perfect" which was a surprise to Dr. Pauli. Most achondroplastic kids at his age have at least had an ear infection and many have tubes. The state of his inner ear indicated that he's never even had an infection (knock on wood!). His mouth is a good size and allows for plenty of pearly whites. At a 15% curve, his kyphosis is fine and flexible. His legs don't indicate any significant bowing.
Height was 28 3/4 (50th percentile)
Weight at 23 lbs (50th percentile)
Head size 52 cm (30th percentile)
It was exactly what we were hoping to hear and more. Dr. Pauli must have used the word "perfect" 10 times. Of course this was no secret to Dan and I, but it really feels good to have someone else say it! He felt that Owen was "precocious" and comfortable with his body (I wish I could say the same!)
The amazing part of the whole exam was that Owen patienly sat still for the entire thing. He let Dr. Pauli poke and prod him like a science experiment.
The visit however, wasn't without it's negatives. There was a little bad news. Dr. Pauli was concerned about the results of Owen's May MRI. His scan showed narrowing in his foramen magnum.
The foramen magnum is the opening at the base of the skull that allows the spinal cord to connect to the brain. People with achondroplasia inherently have a narrowed foramen magnum but it often does not cause any problems. If the opening is too small or becomes smaller over time, it can cause stenosis. Stenosis inhibits the flow of essential fluids and in the case of the cervical spinal cord, blood and spinal fluid. Steniosis of the could eventually cause spinal cord damage. If this happens there are a host of problems that could arise. Owen could lose sensation in his extremities, he could fall behind in his development, hydrocephalus, etc....It could also cause central sleep apnea which is why infants with achodroplasia need to have sleep studies in conjunction with neurologic care.
One solution to this problem is decompression surgery in which they would widen the foramen magnum. YIKES! Dr. Pauli he doesn't automatically reccommend surgery unless he sees spinal cord damage. Owen's level of stenosis is the worst you can have without seeing cord damage. At this stage, Dr. Pauli would determine the need for surgery by both the MRI findings as well as a clinical exam. As I mentioned earlier, Owen's clinical exam showed that he is completely asymptomatic. In fact, Dr. Pauli said that he had never seen such a disconnect between an X Ray and physical symptoms. Based on the MRI scan alone, he would have expected some physical manifestion of the stenosis.
The fact that he is doing well despite the narrowing was a small comfort. However, Dr. Pauli said that without the surgery, Owen should not play contact sports because the risk of a spinal injury would be much greater. That was a bit of a bummer. It's not that we were counting on a football scholarship, but when someone tells you that your child can't do something due to physical limitations, it really makes our situation real. We've been pretty lucky thus far with Owen. No major problems.
I was driving home the other day and saw my old grade school's football team walking back from football practice. It made me a little sad. At the grade school level, pretty much all kids play sports. I don't want Owen to feel left out. That being said we would never put Owen through skull surgery for the specific purpose of playing sports.
All in all it was a great appointment. His foramen magnum issue did not outweigh the good news we heard. For me, the best part of the visit is was that Dr. Pauli sat down with us for a full 1 hour and a half. He was not rushed or hurried or anxious to get to his next patient. He gave us the impression that we were his only patient. As was able to interconnect different issues of his condition in a way that we hadn't heard before. We have had compartmentalized treatment for Owen thus far: a geneticist, an orthepedist, a neurosurgeon, a pediatrician, another neurosurgeon for the sleep study. Dr. Pauli was all of those in one. We had a lot of "Ahhh!" moments. "So that's why Owen does so-and-so." We have decided to transfer Owen's care to Dr. Pauli (with the exception of 1 neurosurgeon) which will drastically cut down on appointments. YAY!!!!!!
The best part of the appointment...no one ever asked why we were there!
Letters to our Daughters
1 day ago