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

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!

Sandifer's Syndrome Diagnosis

We were finished hearing that Noah no longer had Infantile Spasms (at this point cause they could come back and we pray daily they do not). Then we showed his neurologist the newest episode video and she said "Those are not spasms or seizures...he has Sandifer's Syndrome."

Sandifer's syndrome is a form of acid reflux disease that happens to infants and toddlers.  My short explanation is that when a baby has such bad acid, reflux, and heartburn their little bodies cannot handle the pain so their bodies will do all sorts of crazy movements.  There are many YouTube videos that show a way better account of this then the one I took so I didn't post it. 

This is kind of music to our ears in a way.  Don't get me wrong, it is another horrible diagnosis with multiple medications to treat it and sounds like it will be a very long treatment plan (zantac, prevacid, mylanta).  However, to us it meant that Noah no longer was getting his brain hammered and damaged.  It meant that many of the harmful episodes he was having were actually Sandifer's episodes so his brain might not be as bad off as we originally were thinking.  It also means that the two original seizures we thought he had in his first month of life might have also been Sandifer's episodes.  The one seizure he had in the hospital was totally different than all of the episodes he has ever had and that one was witnessed by nurses and deemed an actual seizure. 

He will eventually outgrow this diagnosis and no matter how many episodes he has none of the Sandifer's ones are harming his brain anymore.  This is a win in our books.

Here is the online support group I belong to, to help me cope with this diagnosis.  www.InfantRefluxDisease.com

He is starting to feel SO much better these days as well. 

His cheeks are all puffy from the steroids....they are so cute too :)

Infantile Spasms Gone!!!

I forgot to mention that when Infantile Spasms are diagnosed an EEG is performed.  When Noah had his EEG it showed something called Hypsorythmia, which is basically just really chaotic brain waves happening all over his tiny little brain.  Not all diagnosis of Infantile Spasms will have Hypsorythmia but most do.

After Noah was on his steroid for two weeks he was still showing signs of episodes but once again they were taking on a new form.  Now his eyes were rolling upward and locking in place and then his back would arch.  However, he could still take his bottle and cry and laugh and we could actually get his eyes to drop down with distraction. He was also no longer doing any of the mouth chewing or lip stretching motions. He could not do any of this stuff before with the other Infantile Spasms. 

I called his neurologist once again. Told her that he is still having the spasms and that "I think he needs to have a second EEG this week to see if the Hypsorythmia is gone."  She agreed and he was in for another EEG two days later.  (sometimes you have to be real specific with doctors and you will be surprised on how much they will do for you).  I also asked if she would be working the day of the EEG and if there was any way that she could be present for the EEG or afterwards. Our next actual scheduled appointment was two months out so I was just double checking to see if she would.  Surprise to us she came in early that day just to be there to look over his EEG and see us before her other patients arrived. She is wonderful.  I also got a chance to show her a new video we had taken of Noah's newer episodes. 

His EEG showed that as of right now his Infantile Spasms are gone.  G.O.N.E!!!  Yahoo!  No more hypsarythmia or brain damage to my Noah's Noggin :)  However, why then was he still having these strange episodes.  That is when I pulled out the video.....and that is when he got yet another diagnosis to his already long list of life altering diagnosis'......Sandifer's Syndrome.