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

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.