My name is George, my wife is Alexandra, and our son’s name is Nicholas. Nicholas turned two as of August of this year. Our experiences with glasses, patching, and pediatric ophthalmologists began when Nicholas was about two months old.
While changing his diaper one weekend morning, the sun happened to be shining in on his face when we noticed what can only be described as a slight ‘jiggle’ in his left eye. We looked, looked again, looked a third time…and as any new parents might do…we panicked.
Within a very short time we had placed a call to our pediatrician’s on-call, and after a worried discussion using descriptors like ‘jiggly like a sunny side up egg’ and ‘wobbly like jello’ we had the on call doc stumped. Monday morning we were in the doctor’s office and our pediatrician…also somewhat perplexed…agreed that our descriptors were well chosen. He had not seen the like before and referred us to a Pediatric Ophthalmologist.
What followed over the next couple of months are as follows:
We saw the PO, and following an exam where lenses with ever higher climbing numbers …
-4..-6..-7 were passed over his eyes…we were told that Nicholas was very nearsighted (-7.5 R and -11 L), then following the dilation and slit lamp evaluation…that his lenses were detached. Huh? What?!?
It got better..detached lenses, we were told, at so young an age may be an indicator of some serious underlying genetic disorder…Marfan’s…Homocystineuria…to name the primary two. The PO recommended evaluations to rule out (or confirm) these genetic factors, indicating that glasses would be very necessary, though presently N was too young. The optical diagnosis: Ectopia Lentis, High myopia, amblyopia, and anisometropia. (it’s Google time…) Double Huh? Double What?!?
What followed next was a series of genetic tests, a bone scan, blood draws, and measurements of all type… long talks with a genetic counselor and a physician specialist in genetic disorders. Many a long night scouring the internet. (Dad’s a neurotic…) Not fun.
Marfan’s is a condition with some potentially serious complications. Homocystineuria, scarier still. (A google and a read will fill the interested in.) The long shot in the list of disorders was ‘Ectopia Lentis et pupillae’ or ‘Idiopathic Ectopia Lentis’ i.e. detached lenses with no discernible cause.
One after the next the results returned negative. Our genetic counselor reassured us that we ran all the tests there are…oh yeah…a gene sequencing too..for Fibrillin defects..(there’s another Google for you…). In the end, we cleared all hurdles. Nicholas it seemed, had detached lenses, for reasons unknown. Idiopathic Ectopia Lentis.
The next PO follow up wasn’t until six months of age, so dad filled the time with a near obsessive scouring of the internet. Mom, decidedly less neurotic, met everything with a positive outlook.
At the six month visit, we were instructed that N would have to patch 2 hours daily to force the use of the weaker eye, we chose glasses, discussed lenses…might be thick but the technicians would try to cut the thinnest possible profile…the PO reassured us that though unpredictable (lenses might detach further or all together)…the best approach was not to worry too much, monitor closely, and live happy. …“he’ll be a little boy in glasses”.
About a week later we picked up the frames…metallic, mocha, Disney, cable temples.
While N was now only six months…when the glasses were first put on…it was we like to think, quite a revelation for him. There was a somewhat obvious start…at least as much of a start as a drooling six month old obsessed with eating can produce while strapped in his car seat…as he saw things much more clearly for the first time. At least that’s as much as we can surmise.
Fast forward…Nicky is now two. We patch diligently every morning. He wears his glasses all day every day. We have had our share of face plants and head bumps, bent frames and popped lenses, even one trip to the ER for stitches after a not too friendly encounter frames/face-vs-coffee table. He’s a happy and robust kid. I think we’ve been lucky in a sense that we caught it when he was so young…the glasses and patching are well ingrained in the daily routine. We’re cautious that he might fall…hit the lenses… but try not to be overly so. As he’s grown, so too has his self perception and an ever increasing awareness that things aren’t quite the same as with other kids. He lately really dislikes the patching. Still, we’ve managed to overcome the objections …mostly with reassurance…and he wears it for the required time. The glasses, luckily, he’s never really objected to as he clearly perceives the difference.
With several PO visits now under our belts (the latest 9/11), N’s prescription is unchanged…he sees great…eats great…has developed near manic obsessions for Thomas the Train and Elmo. We understand more now then we did at the onset, that a full detachment of the lenses may occur at some point…though if or when is anybody’s guess…but more importantly that most any eventuality can be overcome with good results. (yay Google!)
When all is said and done, post obsessive googling, and the now mostly passed scared-worried-guilty-what if feelings, Nicholas is exactly that…a little boy in glasses.
Wow- what an ordeal! Your comment on the hours of late night internet searching really hit home. I can’t tell you how many hours I sat here and searched and cried, searched and cried. I am so relieved that his detachment wasn’t related to something more serious.
It is so nice to hear from a Dad going through this ordeal. So many dad’s out there feel powerless to do anything apart from earn the cash to pay for the huge medical bills related to vision issues. Good on you – and yes, I too was a late night googler!! I found some comfort and alot of education in googling to find answers. My son’s surgeons and opthamologists joke as to when I will be getting my medical degree.. (Like I have time for that!!)..
Our heartfelt best wishes go out to you, your family and Nicholas. We too have a nearly 2 year old “little boy in glasses”. There is alot we can learn from these ‘little people’ about patience, endurance and persistence. Bless you.
This is my first visit to this website and I found your story. My son is 15 months old and has bilateral dislocated lenses. We also found out when he was 2 months old because his eyes jiggle. We are blessed to have had a physical sign to let us know our sons needed help seeing. Our stories are so alike, except the mom is the neurotic looking for answers on the internet. We are still going through the genetic testing, what an emotional rollercoaster. It is comforting to know someone else successfully made it through this drama. Thanks for telling your story.
Hang in there! The genetic testing, while tedious and emotionally draining, will help determine what, if any, underlying factors may be contributing. Is your son in glasses? How is he handling wearing them? There is A LOT of good advice, tips, and support on the site.
I would be happy to share any advice I can, or answer any questions if I am able. I know it can be lonely out there, as finding persons with similar condition of ectopia lentis is few and far between.
Hi Amie, best of luck with your son and all the testing. Please keep us updated and let us know how you’re doing. I can’t imagine what it’s like to go through that, but know that we’re all thinking of you and wishing you guys the best.
Amie or George… What do they look for with genetic testing? Anything specific? Or is it just a general thing to see how many markers pop up for different diseases and disorders and illnesses?
My daughter’s pediatrician said last week that he’s going to look into genetic testing for Penny, so I’m wondering what it’s about.
Genetic testing is to determine if there are any inherited factors at play influencing developmen of lenses, or other parts of the eye.
In our case, as example, N had a full genetic and metabolic panel completed to rule out specific disorders generally associated with ectopia lentis.
It’s been a few years, but I am hoping to discuss the issues above. My boy Josh has Ectopia Lentis et Pupillae in both eyes. So far there are no genetic pointers to an underlying syndrome. Please email me at firstname.lastname@example.org if you’d like to discuss.
Hi David. On the way..