Showing posts with label Optic Nerve Hypoplasia (ONH). Show all posts
Showing posts with label Optic Nerve Hypoplasia (ONH). Show all posts

Thursday, June 28, 2012

Eye Appointment: Discouraging


Noah being silly in his dilation glasses



Two days ago Noah had his follow up Ophthalmology appointment to see where his vision stands now that he is about 8 months old.  I was hoping for some words of encouragement like "His vision has greatly improved"  or wishful thinking "It's a miracle! His blind left eye is definitely seeing shadows."  Nothing like that was said at all.  In fact I left feeling plain discouraged.

This was the first time we saw this new Ophthalmologist and she had way better bed side manner than our last doctor.  However, once again she was just more interested in the fact that Noah's left eye is pretty much missing it's entire optic nerve.  She kept looking over and over and over again at his left eye.  I just wanted to stand up and shout "Excuse me!  Are we not here to evaluate Noah's one working right eye???"  I was the one who had to keep saying things like "Would you like to check his prescription now to see if he is a good fit for glasses?"  Which he isn't right now.  Or at least she stated that currently they would not help him in any way.....and then she was back to looking at his blind eye again.  So then I asked "is there something wrong with his left eye since you keep looking at that eye?"  She states "No, just looking in there to see his absent optic nerve."  Um.....have you not seen this before?  Why do you keep looking for something you already know is not there?  Its not like it is playing hide-and-seek or something and will just magically appear the 20th time you hold my babies eyelids open and shine lights in there.

She basically said that Noah's right eye looks perfect and the optic nerve in his right eye looks perfect and yet he still isn't trying to grab for anything or focus on anything no matter how much therapy we do.  I was the one then that had to come out and say "So....what you are thinking is that maybe Noah has Cortical Vision Impairment in that right eye?"  She then proceeds to say very vague remarks and states that he could possibly have that or maybe he doesn't.  What?!?

My husband and I then leave the office just kind of bewildered.

The only way I can describe what Noah's vision might be like is to have you imagine a set of blinds behind his eyeball.  Sometimes the blinds are totally open and he can see clearly.  Other days the blinds might be partially shut or completely shut and he either has a really hard time seeing things or cannot see anything at all.  Anything can effect his sight and only time will tell if he actually has this impairment or not. 

So, we will continue to work with Noah's vision therapist and try to get him to focus on objects or people or anything for that matter.  We are currently working with a light box, and ipad (vision apps), and just plain sound making and silent toys in hopes that one day soon he will take a real liking to something and reach out to touch it.

It's all a bit discouraging like I said and I pray that in four months when we go back for another follow up visit there will be vast improvements and I can update this blog with all the good comments and remarks the doctor tells us about Noah's vision.  For now it is yet another waiting game filled with hours of hard work and therapy.

****if anyone has any good ideas that you think might help us with Noah's vision please email me :)




Wednesday, June 20, 2012

Newly Diagnosed: What to do Now

http://instantautotrade.com/wp-content/uploads/2012/04/Check-List1.jpg
I keep telling my family "I wish there was a document that was handed to us when Noah was first diagnosed with Agenesis of the Corpus Callosum that listed all of the stuff we (should know or question or look for) then went into detail about other closely related diagnosis or possibilities."

Well my friends I have decided to go ahead and make one big fat list of links that will guide you to everything I have found regarding Noah's diagnosis's. If I were to create a document myself it would be way too many pages for people to want to read so I am just listing links so you can pick and chose what you would like to read.  I have listed them by diagnosis so you can get where you want to get faster :)

****keeping in mind I still am just learning about stuff myself and may not have everything listed that I should. But I would love to add to this list so please let me know what I am missing and can learn for myself too).

What to do right now:
  1.  For ANY disability your child may have please look up your local "Early Intervention Program (EIP)" and if you qualify get started with this program as soon as possible. This program only goes up until age three and then there are other programs for older children.(this is a federal program (in the states) and does not work off of insurance but rather your family income amount to see how much you have to pay each month).
  2. If you are fortunate to have insurance or unfortunate to have to deal with insurance...Contact your provider and see what your plan covers, what facilities they cover, and what doctors they cover.  Doctors will not know or care what your plan is so many of them refer you to places or specialists that may not be covered by your insurance so be on top of this at all times. You may also want to find out what your out of pocket costs are with your plan and if co-payments count towards this out of pocket amount.  Every insurance provider is different than the others so every plan is different.  Get to know the ins and outs of your specific plan. 
  3. Find a FANTASTIC pediatrician who has experience working with special needs children.  They will be your best resource and support in taking care of your child and getting you in to see specialists. 
  4. Start to make appointments for your child to see "Specialists" as soon as possible because the waiting list for such doctors can be months away. 
    • Neurologists (seizure disorders, MRI's, EEG's, ect)
    • Endocrinologists (diabetes, hormone's, adrenal gland, monitoring growth ect)
    • Geneticists (chromosome or hereditary abnormalities, ect)
    • Special Needs Clinics (Utah has one up at PCMC but not sure about other states)
    • Ophthalmologists (eye to brain connections)
    • Optometrists (vision and degree of eye sight)
    • Therapy Facilities (Physical, Speech, Occupational, Vision)
    • ***most facilities have a "quick list" you can get on once your child is starting to show  signs of certain disorders (seizures symptoms, abrupt weight loss/gain, dehydration, choking, ect).  Have your pediatrician call the specialist themselves so you can be seen much sooner.  
Caregiving 101, by: Kris Hansen
 I found this resource on the internet at www.caregiving101.org with some ideas on how to prevent “Caregiving Burnout”.
  1. Choose to take charge of your life, and don’t let your loved one’s illness or disability always take center stage.
  2. Remember to be good to yourself.  Love, honor and value yourself.  You’re doing a very hard job, and you deserve some quality time, just for you.
  3. Watch out for signs of depression, and don’t delay in getting professional help when you need it.
  4. When people offer to help, accept the offer and suggest specific things that they can do.
  5. Educate yourself about your loved one’s condition.  Information is empowering.
  6. There’s a difference between caring and doing.  Be open to technologies and ideas that promote your loved one’s independence.
  7. Trust your instincts.  Most of the time they’ll lead you in the right direction.
  8. Grieve for your losses, and then allow yourself to dream new dreams.
  9. Stand up for your rights as a caregiver and a citizen.
  10. Seek support from other caregivers.  There is great strength in knowing you are not alone.


Agenesis of the Corpus Callosum - Description


Septo-Optic Dysplasia Description / Optic Nerve Hypoplasia Description
Epilepsy Description


Infantile Spasms (aka West's Syndrome) Description


  • This a an article we came across that scared us to death but then I found out that the data is really old and according to our neurologist is not longer "catastrophic".I only list it because you will come across this in your search and I want you to know that Infantile Spasm treatments have changed dramatically and my neurologist has not had a single child die from it.  Here
Sandifer's Syndrome (aka Acid Reflux Disease) Description


Dysphagia (feeding tube stuff) Description

Hypotonia Description


 


Other links I found that I found helpful (even just for DIY ideas)

Thursday, June 14, 2012

Optic Nerve Hypoplasia Diagnosis

We sat down in the Ophthalmology department waiting to be called in to see why Noah's eye was having problems.  We were both tired being only five days since Noah's birth.  We went in, the doctor did all kinds of crazy tests, some that made all of us cry because we could see how uncomfortable it was for our newborn baby. The doctor then sat in front of us and told us the diagnosis.  "Noah has what is called Optic Nerve Hypoplasia in his left eye.  This is when the optic nerve does not grow fully and your son will never have sight in his left eye."  We thought the world had crashed down on us.  We sat there wiping away the tears and fear creeping up for the unknown future for our son.  We seriously thought this was the worse news ever.  Our son only has one working eye.  He will have to go through life with only half of his vision.  We were devastated.  The doctor then told us that he wanted us to do an MRI that Wednesday (two days) just to make sure he was correct in his diagnosis.  He also wanted some other electromagnetic tests done to test if Noah's right eye (the one working eye) was actually sending and receiving signals from the eye to the brain. 

We had two full days of worry and sadness and me just recovering from labor.  But all the while enjoying our new little bundle of cuteness wrapped in swaddling blankets.  We were deeply in love with Noah and even if he only had one working eye...who cared really.  He was our son and we love him. 

Wednesday came much too fast.  We were once again up at PCMC for the MRI.  They brought us back into a room filled with hospital beds as other children were recovering from sedation.  They then proceeded to give Noah his sedation so that he would not move while getting the MRI.  Everything seemed routine and smooth.  We ended up having to stay a full night there because Noah's little body would not wake up from sedation so he had to have around the clock supervision.  It was a long night for my husband and I trading the chair for the padded bench seat to get even a minutes worth of shut eye.

We went home the next morning and waited for the phone to ring to tell us the news.....

Helpful Links for Optic Nerve Hypoplasia/ Septo Optic Dysplasia:

Los Angeles Optic Nerve Hypoplasia Center

Facebook Optic-Nerve-Hypoplasia-ONH-Research-at-Childrens-Hospital

Magic Foundation