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 :)

Septo-Optic Dysplasia

Septo Optic Dysplasia (SOD) aka de Morsier syndrome.  Something that Noah has yet to be officially diagnosed with but also something that I am pretty dang sure he has (gut feeling) and it is only time before it is actually listed on his medical records.  This diagnosis has three key points.

1. Optic Nerve abnormalities: vision impairments. 
• Noah's left eye optic nerve is severely underdeveloped
2. Absence of the septum pellucidum (mid line brain structure): developmental delays 
•  Not sure if Noah is missing this or not because his MRI was done when he was 5 days old and according to his neuro they are unable to see any newborns septum pellucidum that young.  However, he is missing a large portion of the other part of the midline brain called the corpus callosum.
3. Hypopituitarism: hormone and adrenal gland problems
   
•  so far Noah has not been diagnosed with any form of hormone problem however he does exhibit some symptoms of hormone problems.  Some of these same symptoms are also side effects of the anti-seizure medication he is on so we are not yet sure what Noah's story is.  He has to wait three months until we can check his cortisol levels and other hormones because he was put on a really high dose of steroids to help with his infantile spasms.  This is a very concerning topic for me because we have to wait and wait before we can see the endocrinologist and get some good tests.  Right now every time he has something happen like he over heats or vomits or doesn't seem to grow in length I question this aspect of this syndrome. 

I have been following the SOD Facebook community now for about three months.  I have gained a wealth of knowledge just by reading the wall questions or comments.  The Magic Foundation is also a fantastic resource to gain knowledge about this condition.  From my own research I found the whole definition of SOD to be a bit confusing.  It seems to me that you do not need to have all three conditions to actually be diagnosed with SOD contradictory to every definition I have found on the internet.  It also seems that throughout the years many doctors have diagnosed this condition to many who may exhibit only one or two of the three symptoms.  Then I have also read that the one condition that you HAVE to have to even be categorized with SOD is optic nerve abnormalities but like I just mentioned many have perfect sight in both eyes and have had this diagnosis put in their medical records. 

Here is a list of links that I pulled off the Magic Foundation website.  It lists 'some' of the conditions or symptoms found in those with SOD (this does not mean you have to have all of these.  Noah so far only has been medically diagnosed with the one but time will tell about others.)

• Chronic Renal Insufficiency
• Congenital Adrenal Hyperplasia
• Cushing's Syndrome
• Growth Hormone Deficiency in Children
• Growth Hormone Deficiency in Adults
• Idiopathic Short Stature
• Insulin-like Growth Factor Deficiency
• Intrauterine Growth Restriction
• McCune-Albright Syndrome /
  Fibrous Dysplasia
• Panhypopituitarism/Tumors
• Precocious Puberty
• Russell-Silver Syndrome
• Septo Optic Dysplasia /
  Optic Nerve Hypoplasia
• Small for Gestational Age
• Thyroid Disorders

Newly Diagnosed: What to do Now

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

• NODCC -National Organization for Disorders of the Corpus Callosum 
• NODCC's awesome brochure in many languages: Here

• Angels around the world
•  ListServ-E-mail based Support Group for ACC
• Images of the different types of Corpus Callosum malformations
• Article and Video of a teen with ACC
• ACC medical study -look for the full pdf (its free)
• Youtube videos about ACC and families (looks at Dr. Sherr's videos for sure)
• Interesting blog post about this diagnosis

Septo-Optic Dysplasia Description / Optic Nerve Hypoplasia Description

• Magic Foundation
• Cortical Foundation
• Focus Families they have an awesome booklet on this site:  Booklet 
• Interesting blog post about this diagnosis

Epilepsy Description

• Imitators of Epilepsy
  

Infantile Spasms (aka West's Syndrome) Description

• Infantile Spasm Support Group

• Imitators of Epilepsy 

• 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

• Imitators of Epilepsy

Dysphagia (feeding tube stuff) Description

• Swallow Study
• Tube fed Kids Deserve to Eat- support group
• Silent aspiration and more on swallow studies
• Thickeners
• ThickIt
• Simplythick
• Xanthan Gum (making your own SimplyThick) here
• VitalStim Therapy  -we had one visit to see if this method would help Noah but after one "test run" it was founded that Noah was past the point of needing this type of therapy so we didn't pursue it any further. 

Hypotonia Description


 


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

• Social Security Disability Benefits for Children
• Look up your local "Division of Services for People with Disabilities"
• Toys for those with Special Needs
• Special Needs strollers and such
• Zero to Three
• Babies with iPads 
• Apps for children with Special Needs
• One Place: for Children with Special Needs
• Apraxia Speech Tips
• Apraxia Kids

Be an Active Advocate for your Child

Just having a little chat

There is no better or more determined person to advocate for your child than you and those closest to your child.  You have to suck it up, find your voice, test your debating abilities, and become that person people can put a name to when you ring their phone.

I was naive enough to think that when I found a specialist or doctor or facility to treat my son that those involved would actually take notes, research options, get to know my son and his history.  I was so wrong.  Doctors are just people simple as that.  They are busy humans who are over worked, understaffed, trying to make their $$$ by seeing as many patients as possible and hoping that they have at least one answer to each question that the parents might ask of them. 

Yes, they are educated and yes some of them are brilliant and thoughtful and actually take a vested interest in their patients but those physicians are few and far between.  If you find one hold onto them for dear life cause most doctors put on a friendly face but forget about your case a few hours after you have left their office. 

Bring a notepad, a tape recorder, or an extra person to every single appointment because every meeting is packed full of information and most of the time it goes in one ear and out the other.  If you have a screaming child your attention is on trying to calm them down rather than ask the questions you had come up with beforehand.  Most specialists appointments take weeks or months to get into so be sure to have that extra cup of coffee and come prepared with lists of questions for every doctor appointment.  Ask different doctors the same questions to get different perspectives.  Question everything the doctors tell you to get as much information as possible.  Then go home and start your homework assignment by doing your own research on everything you heard or wrote down.  You will be floored with how much information doctors leave out or sugar coat. 

Yes, the internet is full of contradictions and opposing material.  However, nobody knows better than those living in the world of each diagnosis.  Join support groups and learn from those who have been dealing with each diagnosis for years.  They will have more answers and advice for you than any single doctor or team of doctors can provide.  Doctors are like fingerprints, no two are alike, and no two doctors know or feel the same about any one diagnosis so they will treat each diagnosis differently.  Likewise, what might work for one child might not for another.  It is up to you to find out what works for your child.  What they like or don't like.  What brings them comfort or pain.  What works best for them or halts their development.  If you ever have a doctor telling you to just stick with the plan and you know in every cell of your body that "that plan" just isn't working then YOU have to do something about it.  Demand (in a nice way) that the doctor try something differently.  Phrase your messages or emails in way where you are not asking for permission but requesting a different approach or medication. 

Video tape any form of seizure like activity or physical symptom you are questioning.  If you are lucky enough to get your doctors email then email them the video with your question.  Make it as brief as possibly and do not abuse your patient doctor email privilege cause you don't want them to get overloaded with emails from you. 

Every single time a doctor writes out a prescription start listing ALL of the other prescriptions or thickeners or over the counter medications your child is on at that time to make sure that the doctor does not give your child something that might react to something else they are on.  I always bring an entire list of the stuff Noah is on and already there has been two times where the doctor prescribed something, I handed over the list, and then the doctor tore up the prescription and ordered something different.  Even if the details are in every patient history list out there the doctor is not going to remember it off the top of their heads so you have to remind them.  Same goes for pharmacists as well. 

Keep an ongoing folder, excel spreadsheet, work document, or the like with every single appointment, diagnosis, scan, picture, video, prescription, ect. I have to refer to our "book" at least twice a week.  I have had to make copies at least 15 times to give to specialists or government agencies or programs.  It saves a lot of time and stress to have everything in one place.  I make mine on my computer and print out a new hard copy with new updates and keep it in my diaper bag to bring with me to doctor appointments.  At each visit I go to the records department to get a copy of the previous visits medical record.  You will also notice on these records how much information the doctor entered but forgot to tell you about.

This all sounds exhausting and some times it is but at the end of the day you will feel SO much better knowing that your child is getting every possible chance to develop and have a great life because of your hard work and perseverance. 

Hypotonia aka Floppy Baby Syndrome

Noah, like many babies with Agenesis of the Corpus Collasum or Sandifer's or Septo Optic Dysplasia, has what is called Hypotonia aka Floppy Baby Syndrome.  Like this picture above you will see that these babies are unable (at the time being) hold their heads up or use their muscles because basically their muscles are just too weak.  If you go to here it will go into great detail about what hypotonia is or does or makes things hard to do.  I don't want to bore you with a large cut and paste post so I am going to leave the detail up to wikipedia :)

Noah struggles in this area a lot.  When he was first born and nobody was the wiser about his conditions I remember the lactation specialist saying how strong Noah's neck was because he was already trying to lift his head at one day old.  I was pretty dang proud that day. That same head lift is about where Noah is still at 7 months later.  Well...it is a bit stronger but still unable to lift up fully and stay that way.  His shoulders slouch forward and he can't sit up straight right now either.

These are all things we are working hard on and devote pretty much all of his therapy time on right now.  He will get there just on his own Noah time and not according to any baby milestone book timeline.  Speaking of which, throw the baby books out now if you haven't done so already.  They will only make you feel sad when you read that your child should have done this or that and in reality they are months behind in that area.  It just saves a lot of grief by tossing them aside and focusing that energy on the therapy for your child :)

Like I said, as of today, Noah is 7 months old and so far he is doing really well considering.  He can sit in a bumbo chair for about 20 minutes as long as I am there to keep my hand behind is head just in case his head decides to snap backwards.  He lifts and sags then lifts again.  This is like neck push-ups in a sense and are really strengthening his head control. We also do as much tummy time as possible bringing his arms underneath him and his hands together so that he is perched on his forearms and has to lift his head.  He hates this one but it is the best one for him.  The yoga ball is the best tool I have found.  Just by putting a blanket on the yoga ball (kind of deflated so it is not rock hard) and then I put Noah on his belly and while holding him securely we move front to back, side to side and Noah's muscles naturally activate to keep balance.  It is a hard workout for him but he is getting better at it weekly.

I am not sure how or when he will be able to grab a foot or sit in a chair or push up on his hands but I know it will come eventually.  He is getting big and my next worry is moving him to a toddler car seat because he still can't sit up so how am I going to take him to a store if he can't sit in a shopping cart?  I guess we will get to that point when the time comes.  

For now I get to have and hold and cuddle my baby for hours on end because he just has this natural physique that loves to curl into my arms and shoulders and snuggle in :) 

I heart snuggles!

EEG's (Electroencephalography)

Getting ready to fall asleep for his second EEG

EEG's are a bit of a scary thing for your first time.  You are lead into a small white room with a bed, a computer, sometimes a camera on the ceiling, and a few chairs.  You are supposed to somehow get your child in a comfortable position so that the EEG tech can stick many wires (Leeds) onto their head and then wrap them up like a mummy.  Noah of course HATES this whole process.  He cry's each and every time to the point of exhaustion and then falls asleep as soon as they are done wrapping his head.  Maybe this is their evil plan or something to get my child to sleep.  Since he is a baby I can't actually sleep deprive him at this point.  With every wire they stick to his head they have to first take a swab of sticky goop and apply it onto his scalp with a very irritating rubbing motion that makes him go bonkers.  They do this about 20-40 times depending on how many wires they are using that day.  Then once the wire is stuck on to his head they put a piece of tape over each one that pulls at his hair and makes him scream worse.  Then to make matter worse they take a mile long piece of gauze and turn my son from an adorable baby into an adorable mummy.  Noah's eyes are usually as red as cherries at this point and my anxiety and worry is through the roof.  I try everything I can to keep him calm.  Pacifiers, bottles, his favorite blankets or toys.  Nothing works but he does end up falling asleep out of pure exhaustion.  

20-30 minutes later after I sit in a darkened room watching the patterns on the computer and trying to figure out what constitutes a bad read or not the EEG tech finally returns to tell us it is done. The last time I was googling what an EEG looks like for a child with Infantile Spasms (hypsarrythmia) and honestly I can't make it all out.  Probably why they make you go through years of schooling to read those things.  Every breathe he took or movement of his head something was happening on the EEG so I was clueless what it all meant.  

The EEG tech is not allowed to tell you what the outcome is and they are just there to kind of torture your sleeping baby even further by flashing bright lights in front of their eyelids to see if that might cause a seizure.  Then, if your sleeping baby isn't awakened from the flashes, he is awakened from the EEG tech unwrapping his head and quickly yanking all the Leeds, goop, and tape of his scalp and hair.  Another screamfest arises and the tech tries to do this as fast as possible.  We then wipe a wet cloth over his hair to get some of the stickiness out of it and then we are sent on our way to await a phone call from the neurologist.  

I pray that if and when we have to have another EEG that Noah might be older and might be able to better handle the whole process.  For now as a small baby it annoys and scares the crap out of him and I think might be why I have started to see tiny grey hairs coming out on my head.