Our Trip to Cleveland: Looking for a Diagnosis
July 2006 was a big month for our family. Ivan, along with his mom (Amber), his dad (Esoos), and his Grandma Trisha, embarked on a trip to Cleveland to participate in the fourth bi-annual LCA conference as well as meet with doctors and receive a diagnosis for Ivan’s blindness. Here’s how it went…
We headed out on Wednesday, July 26th from Keahole airport on the Big Island. Esoos had a grand-mal seizure earlier that day and there was a lot of debate over whether or not we should go at all. Esoos was feeling better and felt that he could manage the plane ride, so we decided to give it a shot. Of course, everyone was very worried about Esoos’ health on the trip and though he was very tired he pulled through alright.
The plane ride over was pretty uneventful. Ivan managed to sleep a little (and so did his dad). We changed planes in Chicago and finally landed in Cleveland at 9 am on the 27th. We didn’t have any appointments until the next day, so we were free to relax and take it easy.
The next day, though, was huge. Ivan’s ERG was scheduled for 7:45 am and he wasn’t allowed to eat or drink beforehand. Luckily he slept right up until the time we had to leave for the appointment. Our hotel, The Intercontinental Hotel and Conference Center, was located on a large medical campus and was connected to all of the nearby clinics, including the Cleveland Clinic, by sky walks. Our room was on the ninth floor while the LCA conference was on the second and third floors. The doctors offices were all a quick fifteen minute walk away through air-conditioned sky walk corridors. Except for having to head out one day to do laundry (because the hotel laundry service charged $12 to wash one pair of pants!), we rarely had to venture outside at all (which was nice since Cleveland is very hot and humid in the summer).
So, we packed up Ivan and within fifteen minutes were in the doctor’s waiting room. The technician put drops in Ivan’s eyes while we waited so that his eyes would begin dilating. Once dilated, Ivan and mom were brought to a very small, very dark room with one little red light. Here Ivan was given Versed, a light sedative that was supposed to make him calm and weak without knocking him out. We sat in the dark with the nurse and technician waiting for the Versed to take affect and Ivan’s eyes to adjust to the dark.
After twenty minutes they decided to give Ivan another dose of Versed. He never did get as tired as they wanted, so we had to go ahead with a slightly calm but still very strong baby. First they taped electrodes to his right wrist and forehead. Next, they placed numbing drops in his eyes and used large yellow contact-like braces to hold his lids apart. The center of these contacts were open and two more electrodes were applied, one on each eye. These contacts and electrodes were then taped to Ivan’s face. All you could see were his eye lashes, nose, and mouth.
The ERG takes place in a large box with an opening in the front for the face. In the box is a smooth white dome with very bright lights positioned around it. Ivan’s face was held in the box while the lights flashed and strobed. Mostly Ivan cried, but sometimes he laughed. They said that was a normal reaction to the drug. The technician had some trouble capturing Ivan’s “baseline,” but after about twenty minutes it was all done and we were free to go sit in the calm-down room. When they let us leave, Ivan was exhausted. We went back to the hotel room for a short break, then it was off to our next appointment.
Our next meeting was with Dr. Traboulsi. As soon as we arrived at his office Ivan fell asleep. Fortunately the doctor had just gone to lunch, so Ivan got in a good nap before his next exam. Before Dr. Traboulsi appeared, Dr. Koenekoop and Dr. Hopkins stopped by our room to examine Ivan. Then, while they were discussing Ivan’s ERG, Dr. Maumenee walked in saying she had just checked in to her hotel and had come over to see what was going on. These are the top doctors in the field of retinal research so it was amazing to have them all in one place talking about Ivan. Dr. Traboulsi decided to re-dilate Ivan’s eyes so they could get a good look at his retina. Once dilated, Dr. Traboulsi examined Ivan’s eyes and was excited about what he saw. Each doctor took a turn examining Ivan and each sounded excited. Ivan, on the other hand, did not enjoy the exams at all!
After it was all done, this is what they said: Ivan’s ERG and other symptoms confirm an LCA diagnosis. His retina is degenerated except for the areas around the optic nerve and blood vessels (that’s what they were excited to see). This is very characteristic of an LCA mutation on the CRB1 gene. Ivan had been tested for all of the known gene mutations (including CRB1) and the results were negative. Dr. Traboulsi explained that when they screen for mutations they only look at places along the gene that are known to have been mutated in other patients; in other words, they don’t look at the entire gene. So he called Carver Labs in Iowa and asked them to rescreen the CRB1 gene. They’re also going to rescreen RDH12 because the findings there were unusual. They also took blood from mom and dad to screen our blood as well. We’re very excited about this diagnosis and that Ivan is now part of the research process.
That evening, after all the tests were over, we went to the LCA family dinner. We met many families with LCA and really enjoyed talking to them. The next couple of days were spent attending panels and meeting more families. We learned a lot and really had a great time. Ivan’s great-grandmother, aunts, uncle, and cousins also drove up to visit. Ivan was able to meet some of his cousins and had fun playing with them.
We headed home on Monday, July 31st. The plane ride was very long and the planes were all very small. All of us adults had a difficult time on the ride back but Ivan pulled through no problem. He does seem to enjoy traveling.
Ivan grew up a lot on this trip. He started making more sounds, is more expressive, and has even started sleeping on his back. He took a bath in a big tub for the first time and enjoyed it immensely. Ivan seemed to have a good time, at least after all the poking and prodding was done.
Fine and Gross Motor, Special Needs
Learn how to prepare for your child’s first physical therapist appointment so you can feel confident that they are getting the care they need.
Behavior, Special Needs
Parents of children who are blind and autistic often face unique challenges when it comes to managing behavioral issues. Many traditional behavioral management techniques rely on visual supports, which can...
Feeding and Eating, Special Needs
Mastering self-care skills can be especially empowering for children with disabilities, helping them to gain independence and confidence.