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

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!

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