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Monday, March 11, 2019

Bring on the changes!

This post is late, but we have been super busy with little Miss Ella. She cut her finger and it got infected. It was wrapped still when the infection started, so it had blood flow cut off from the tip. Looks disgusting but we are on the right path (after 3 ER visits and a hospital stay)!

We have been very fortunate for Brody's vision loss to have held off longer than other children we know with Usher Syndrome. We originally were seeing Dr. Franklin, his ophthalmologist, every 6 months. Since there haven't been any significant vision changes, Dr. Franklin had pushed his appointments out to a year apart. We went December 3rd to his yearly appointment.

We had been seeing some slight vision changes, but were unsure if they had to do with his Usher Syndrome or if it was because he was 6 now and could tell us what he was seeing. Mostly it is light sensitivity when he goes from outside in the sun to inside a building. We try to make him wear sunglasses to help aid this, but he mostly refuses to wear them. While sunglasses won't prevent the inevitable, it helps in the moment. He complained a lot this summer about "not being able to see" when he came inside (his eyes are adjusting slower than usual) and his teachers had let me know that he had made the same comments at school.

Jordan got to come with us to the appointment. It was his first time getting to experience the joy of holding Brody down while the nurses pry his eyes open to get the dilating drops in! It only took 3 people this time instead of the normal 4 or 5! 😩We're making progress! He understands that with Usher Syndrome, he will lose vision, but he doesn't understand the extent of it. We can't really tell him he's going to be blind or will only see this much, because really every case is different and everyone loses vision at a different rate and with different fields of vision. He just thinks he's going to need glasses and is actually excited about that part because a lot of his friends have recently gotten glasses. 😏

Dr. Franklin had a student with him, which I'm always a fan of because the doctors tend to talk through things more which helps us understand things better. He said that Brody's vessels coming from the nerve continue to be very thin. Often times with Retinitis Pigmentosa (RP) the vessels will also be very pale. Brody's vessels are still a good color, but have remained thin since we first started seeing him. This appointment, they also started see bone spicules in the peripheral retina. From our research, this is what typically shows up for them to diagnose RP if there is no genetic testing done to confirm the syndrome it accompanies. We found a great blog that explains it pretty well. "The word 'spicule' refers to a needle-like shape, derived from the Latin word the tip of a wheat plant. The term bone spicules is used to refer to the type of small cells that are laid down in the formation of new bone matrix. These spicules in the bone have a similar shape to the classic pigment finding in RP, thus the name. But why does the retinal pigment epithelium (RPE) change into spicule shape, and why essentially only in this disease? The answer has to do with how RP develops, specifically the order in which the retina begins to fail. Animal and human models have shown that bone spicules form only in areas of the retina where photoceptors are missing. The first structure to fail in RP is the rod outer segment, followed by the rod inner segment and then the outer nuclear layer. This happens to region after region in the retina, until much of the rod ring is lost. Then the disease can often progress to cone." (

This can progress at different rates, but Dr. Franklin said that they are barely showing themselves and we can continue coming for yearly appointments. If we see more change, make an appointment.

Brody has been excelling in his piano. He had his first recital at Christmas where he performed "Jingle Bells."

Brody won the Regional Deaf Spelling Bee this year for 1st and 2nd grade! He was very excited! He came in 4th place at the state level spelling bee.

He also started Karate at the beginning of the year. His balance is horrible (thank you Usher Syndrome), but he is doing his best. We have seen so many improvements over the last month. He often gets "silly" and falls over a little exaggerated. I think he's embarrassed that he can't do it as well as the other students in the group. His instructor is awesome with him though! He is very encouraging. Brody was able to do 5 kicks in a row the other night without falling over! He was so proud!