Ok I will start this out from the start with my little guy and his story. He was born after several hours of failed labor via an emergency c-section. Which was medically necessary since his had had stopped three times at this point. From the start I could tell something was not quite right with him, but the doctors kept reassuring he was a perfectly healthy baby, just had an off the charts big head. Looking back now knowing about his eye issues, I can see it was obvious from his hospital pictures that eye was off and not quite right.
About three months of age the pediatrician noticed his left eye not tracking as it should but told us it could still be from not being fully developed yet and to wait until his six month check up. He was at this point diagnosed with torticollis (which later to find out was not the case) which to was to be reevaluated at six months of age as well as his flat head on one side from laying with head tilted. They prescribed exercises until then and positioning him differently.
So when his six moth appointment rolled around the only real concern as of this point is still not tracking with his left eye all others were not a concern any more. He was referred to a pediatric ophthalmologist at this point who diagnosed him as very overly farsighted for his age and said he had a lazy eye due to it and prescribed glasses with a rather strong Rx. The next six months until his birthday were a roller coaster with a kid who refused to wear his glasses and acted like they hurt his eyes all the time. In which time the pediatric ophthalmologist and I grew to hate each other and she quit in this time frame as well. So we were on our own for now. Shortly before his first birthday my mother in law said to me that she felt something was not right with his diagnosis. Since my husband had the lazy eye and surgery to correct it and to her it did not look at all like what she dealt with with him and pushed us to get another opinion.
So not knowing who to turn to not knowing any other pediatric ophthalmologists locally existed, I took him to a local optometrist family recommended. When we went in they dilated his eyes, as normal, then the doctor said to me he needed to go get his dad to confirm diagnosis since he was almost certain he knew what was going on but had never seen it in person only in books. So he came in and agreed they were dealing with a really rare issue. They then found the fluid in the eye to be completely filled with blood and not being able to see the retina they had no clue as to the source of the blood. He was then referred to pediatric ophthalmologist down state at the Children’s hospital. The doctor there confirmed his findings and said this is beyond us, he needs to go to see a retinal specialist to find the cause of the bleed. So off we went again.
At the retinal specialist we started to get sense of urgency from them that surgery was needed immediately, which shocked us since this had not been expressed as urgent prior to this time. So surgery was scheduled and we returned the following week for surgery. After he was taken back we went to the waiting room and they told us after the ultrasound to try to find the source of the bleed they would come talk to us about course of action. After about an hour the doctor came out to tell us she could see what appeared to be a tumor on the back of his eye that was where the nerve end met up with the eye and the the best of her knowledge it could have been the source of the bleed but without seeing the retina they could not confirm that. So they asked for permission to proceed with the planned vitrectomy to remove the blood. She also stated that if when she got in there if there was any doubt that the tumor was not benign he would be loosing that eye that day since they said optical cancer spreads to quickly to the brain and the rest of the body, so they would error on the side of safety and take the eye if they felt it necessary for his well being long term.
This left us with a huge load to deal with in the waiting room. Neither my husband or I could even speak to each other to rationalize what we had just been told. But she did say she would do the vitrectomy first to see the source of the blood and get a better idea on the type of tumor. While in there they found that he had a cleft optic disc and a hypoplastic optic nerve and had what was called Morning Glory Syndrome (MGS for short). The mass was presumed to be benign so she erred in favor of keeping the eye, since she presumed it was the optic nerve malformation that formed the mass. Which biopsy later confirmed. She told us that the cupping of the optic disc into the optic nerve left him with little to no vision in that eye. After a follow up with her 2 weeks post op and a month she referred him to a different local pediatric ophthalmologist.
(This is him a few days after surgery, and you can see the drops he was on kept his eye dilated for a while, 15mon old).
The Dr up here he went to see after confirm the diagnosis and gave him an Rx for glasses to support his good eye. (First pair of glasses with the proper Rx at 16mon old)
The next few months were riddled with fainting spells in which he stopped breathing and at one point lost a pulse all together. Which these first two were to surgery with in the previous 30 days still stress on his system. The second of the two was chalked up to a possible concussion with an auto accident we had three days prior, which medics cleared him of at the time. So nothing was done to find the cause at this point.
A few months later we got him a second pair that had cable temples, which helped to keep them on a lot for him. And since he had started patching that Halloween he got to be our little pirate.
(He is 23 months old here and our little pirate refused to wear his pirate patch at this party!)
Shortly after the first of the year we were once again in late January plagued with two fainting spells within a week of each other with him, once again he had not pulse, and this time now being almost 11 months post op and now trauma recent I demanded answers. So an EEG was ran which came back clear, blood tests ran that were clear, and a cardiologist consulted that found an aortic aneurysm that was large, but not enough to be causing his fainting spells. But was likely the reason he was an emergency section with his heart issues then we were told.
From 2yr old to 3yr old was pretty uneventful for him. Except for at Christmas when he ended up in the hospital since he was in a coma like state and did not wake up one morning. They check his blood sugar when he got there and it was at 37! Yep 37! He was monitored over night and released the next day, but nothing was found abnormal. He did get referrals to Children’s for more work ups when at his 3yr check up it showed he had not grown in height or weight in 18 months. Also at this point due to finding a support group for his eye condition, I requested the MRI / MRA be done and a kidney ultrasound to check for possible correlating conditions with his eye disease as well as genetic testing for the check to see if the gene that can cause similar condition to his eye condition was there, since that would be a marker for things to watch for down the road. The MRI / MRA were clear which was good since they were the major ones that could be issues. They only found the abnormal mass on the back of his eye which was part of his eye issues. The kidney ultrasound found what could be early signs of issues but just something to screen down the road again and monitor. All the tests at children’s could not figure out why his sugars went all over, they at one point in between shot up to 249, they yo-yo all over and he is “not diabetic” and nothing abnormal can be found with him.
The geneticist, endocrinologist, and cardiologist can not explain his fainting spells or blood sugar issues. Nor can they explain why he does not grow as of this point.
As of today when I write this he is set to turn 4yr old here in about 12 weeks and we still have no answers to the puzzle that is my little sweet heart. He is two heads shorter then anyone in his preschool class, but yet no one can tell us why he is falling off the growth charts. Not the geneticist, cardiologist, endocrinologist, pediatrician, or any of the 5 eye doctors he has seen, nor his speech therapist explain his delays in growth, speech, and all around motor skills.
This sounds like Biotinidase Deficiency. Optic nerve atrophy and seizures occur with this condition.