My 3 year old daughter…

[Father of Two]

My 3 year old daughter, SJ, is an extremely active, smart, and fun loving kid. She’s also had some varying heath issues and now we’re dealing with a new one: epilepsy. First, the background…

When she was less than 1, our doctor noticed she was holding a book very close to her face. Turns out she had very poor vision (-10.5) and required glasses. After consults with optometrist and a pediatric ophthalmologist, we executed some genetic testing and discovered she has a genetic condition known as Stickler’s syndrome. This actually ended up diagnosing my wife and her family as well! Her form of this is “minor” and it impacts her body’s ability to create connective tissue. This is expressed through poor eyesight, increased chance for retinal detachment, and “flatter” inner facial construction. Because of this latter part, she’s dealt with many ear infections (30+) and is currently on her 3rd set of tubes (more on that later). Other than that, we’ve been able to thrive through this diagnosis, until this past August.

While at daycare, she had an “episode” where the teachers weren’t sure if she passed out or had a seizure. Fast forward a few weeks and she had a seizure in our home, the day after we brought her baby sister home from the hospital (talk about poor timing!). EEGs were ordered - normal. Also scheduled an MRI for end of November and we started on the road of Keppra. Then another seizure. Neuro’s response - Let’s just increase the dosage! Another seizure? No worries, Let’s just increase a bit more. Fast forward to mid November and she went into a cluster seizure episode. Come to find out one of her tubes was blocked and there was an infection in her mastoid and temporal bones. Fun times!

We’ve gotten her tubes replaced and then had an MRI in the same week. Infection is gone and MRI showed no issue. Genetic testing also shows no issue. Soooooo we’re left with? Seizures with no root cause. Epilepsy. This sucks!

Between August and Dec 1st, she has had roughly 15 seizures. Diagnosed as “global-partial”. Some express with some eye twitch/arm clench while others appear very absence in nature. After her Dec 1st seizure we were put on max dose of Keppra (luckily she’s had zero side effects with this drug…no anger issues at all). We were also told if she has more, we’ll need to transition to a new drug. Even through all of this, she has no lasting side effects - once she recovers, she has full memory, full speech, and no physical limitations. Some recoveries take seconds and others have taken up to 30 min or so.

We lasted 4 weeks at the max dose with no issue. It was a great holiday season and we thought we had found the right dose of the right AED to manage this.

Then she suffered her longest seizure yet - close to 8 minutes. After we passed that 5 minute threshold, we administered her rescue med rectally and while it brought her out of seizure, she slept for close to two hours afterwards.

And here we are today. Waiting on her prescription for her new med (lamotrigine) with the full knowledge of the titration schedule to protect against Stephen Johnson’s rash. Knowing the next 8 weeks, we’ll likely have more and won’t know if this new med will work until that dosage is reached.

That’s her story.

The reason for coming for this forum is that I’m over the “guess-and-check” nature of the treatment plans from neuro and want my daughter, specifically, to be considered! Maybe her story can trigger some solutions that others have found? Specific questions include:

- Has anyone had experience with epilepsy and Stickler’s and found a connection there? All docs have said no to date.

- Has anyone had any experience with glasses (incorrect prescriptions? External Pressure on the face? Etc) causing seizures?

- has anyone had experience seeking alternative treatment plans which work? Specifically thinking of seeing a DO. Any experiences (positive or negative) that we should consider?

I realize there is a lot of unknown in this space and everyone is just doing the best they can. But feeling as if we’ve crossed the threshold of stopping the pursuit of “root cause” in favor of just “symptom management”. I refuse to accept that at this time. Maybe I’ll be forced into that in the future, but not today.

Thanks in advance for anyone willing to reach out!

 

[Bernard]

Hi FoT, welcome to CWE.

What a scary ordeal you and your family have been through!

... Seizures with no root cause. Epilepsy. This sucks!

Tell us about it. lol. You are definitely in the right place here.

...
Specific questions include:

- Has anyone had experience with epilepsy and Stickler’s and found a connection there? All docs have said no to date.
- Has anyone had any experience with glasses (incorrect prescriptions? External Pressure on the face? Etc) causing seizures?
- has anyone had experience seeking alternative treatment plans which work? Specifically thinking of seeing a DO. Any experiences (positive or negative) that we should consider?
...

1. Not me

2. My wife has epilepsy (I don't). She also wears glasses. Her seizure activity didn't start until she was 12 or so. I don't think her vision/glasses played (or currently plays) any role in her seizure activity.

3. My wife has tried just about everything a person can try on their own (diets, acupressure, aromatherapy, eeg neurofeedback, etc.). Diet and neurofeedback were the most impactful for her. I'm not sure if either of those are really advisable for a 3 year old child though. Limiting simple carbohydrates (sugars, white flour) in favor of complex carbs seemed to be the key dietary factor in her experiments with the GARD and LGIT diets.

 

[Porkette]

Hi Father of Two,

Welcome to CWE! I'm so sorry that your daughter and your family have to go through this hard time.
I've had epilepsy for 51 yrs. and had 2 brain surgeries to help reduce the seizures. My best advice to
you is to have your daughter see a Epileptologist who is a Dr. that specializes in epilepsy and is also in a
neurologist. If you go to a Epilepsy Center which are usually at a big hospital or University hospital this is
where you will find these Drs.

To find the correct med for your daughter have the Dr. do a DNA test on the child, they will draw a few tubes
of blood and get some salvia from the inside of her mouth, all of this will be sent to the lab where they will be
able to see the amount of enzymes in your child's liver and they will see your child's body chemistry then the Dr.
will look at this and see what seizure med will help her the most or it will show if she is drug resistant like me.

I had to much tissue on the right temporal lobe of my brain and that's what started my seizures, I'm not sure
but your daughter may have just the opposite there's isn't enough tissue connecting and in turn this may be
triggering her seizures. The best thing for you to do is have her have a SPECT and PET scan along with a fmri
(functional MRI). Also the Dr. may want to do a video e.e.g. on her where she will have to stay in the hospital
for a couple of days and the Dr. will have the depth electrodes attached to her head it won't hurt at all then they
will have her on camera around the clock except when she is using the restroom and they will be able to watch
the seizures and read the e.e.g. to pinpoint the area of the brain that's triggering her seizures. I've had all of
that done since I was a kid.

Start keeping track of your childs seizures get a calendar and write down the time the seizure happens and take
note if your child is sick or if there's a low pressure in the weather, sometimes a low pressure in the weather will
cause a person to have seizures because the air gets heavier and that in turn affects the hormones which can
sometimes trigger seizures for some people.

Also take note if when your child is around bright lights or flashing lights if she has a seizure and the same
thing with sound this means she could be photosensitive meaning certain colors are triggering seizures or
certain sounds can trigger seizures.

You may want to try your child on vitamin B12 that helps calm the nerves I've been using it for yrs. I tried
Keppra and that drug increased my seizures and gave me a hot temper so now I use mysoline, vimpat,
and Diamox along with medical marijuana in a mint flavor mouth spray. I was told the use the medical marijuana
by my Epileptologist and I am amazed at how it has decreased my seizures. Also keep your child away from
Diet soda or anything with nutra sweet in it and take note if she is having seizures when she's around others
who are using cell phones. I found out I am cell phone sensitive because the frequency of the cell phone triggers
seizures. I wish you and your family the best of luck and May God Bless All of You!

Sue

 

[SchoolieMom]

Hi Father if Two - I wholly endorse finding an integrative physician to help you find the “root cause.” We found a wonderful DO after much trial and error through other doctors and medications. Our doctor is “outside” the insurance system, but that allows her freedom to run so many more tests that are not “standard protocol.”

Our daughter, now 16, started seizures at age 8 (though, we wonder if she was having nocturnal seizures well before this time, but we did not realize). No meds worked to control them. Diagnosis “ideopathic epilepsy.”

I highly encourage you to investigate the B vitamins - especially B6 (pyridoxine or PHP). New research is coming out that if a young child presents with seizures with no clear explanation, a high dose of B6 should be trialed (in forms of pyridoxine or P5P - though, some people only respond to one or the other forms - so worth a trial with each, separately). PDE (pyridoxine dependent epilepsy) is considered rare, and is usually only diagnosed at birth. Now, some clinicians are wondering if it’s not rare, but under diagnosed (especially after infancy). Also, there are a few genetic tests to check for PDE in different forms. Though, not all genetic causes have been identified as of yet. Sometimes a lysine restricted diet or supplementation with arginine is also needed along with B6 to treat certain forms of PDE.

Anyway, after eight years of seizures and seeking answers, we finally determined our daughter has PDE this past year. And, it was just me, a desperate mother who read the medical papers and decided to just give it a try (after all, drs experiment with seizure meds, so I decided to experiment with pyridoxine). We first tried P5P form with no response. Then, we switched to pyridoxine. And, wow! We had a near instant response. Our daughter was in a typical seizure cluster and I gave her high dose pyridoxine and they stopped. After this result, we worked with her doctor to figure out dosing and did blood work, etc. Our daughter is responding to 400 mg of pyridoxine B6 daily. Of course, I’m so happy to finally have an answer, but it saddens me to think there are so many others out there who would respond to high dose B6, but the doctors don’t even try since it’s “rare” and diagnosed in “infancy.” And, think how many years were wasted dealing with seizures when we had a missed simple solution? (To note, our daughter has always been on some dosage of pyridoxine and P5P - but, never a high enough dose of pyridoxine).

I also want to encourage you to investigate Riboflavin Transport Deficiency (RTD - they have a website with tons of helpful information)… especially with your daughter’s vision issues. Seizures are common and very high dose Riboflavin (vitamin B2) is the treatment.

Deficiencies in magnesium, zinc, and B12 can also cause epilepsy and there can be genetic causes that can be tested.

Also, Thiamine (B1) in high doses has always been significantly helpful for our daughter. Plus, there are genetic causes related to B1 deficiency that can cause seizures.

I could “go on,” but there are SO many causes of epilepsy and root causes can be found, but it takes determination and time. Medications are the easy (or not so easy) fix. Answers are out there! Be encouraged - you will get there!

Wishing you well!

Jen

 

[SchoolieMom]

A few other thoughts, Father of Two -

For some reason dairy products can trigger seizures in people. And there are many reports by parents who state cutting out all dairy stopped the seizures. Prior to the B6 connection, we took out all dairy in our daughter’s diet and she had a noticeable reduction in seizure activity. She also used to wet the bed when she had dairy (when much younger). There can definitely be a connection to dairy consumption and seizures.

Also, a low glutamate diet can make a big difference. I have a friend who’s two year old started having seizures every single day, and the reduction in glutamate stopped the seizure activity (and the addition of B vitamins). He’s been seizure free for 6 months now - since starting the diet.

Has your daughter started any new medications? Our daughter was on Singulair for asthma. It has so many horrific side-effects that can cause bipolar, night terror, anxiety, suicidal thoughts, AND seizures! Our daughter experienced ALL of these issues while on Singulair and never connected it until sometime later. Many parents are filing class action law suits because of the damage this drug caused their children. Our daughter’s first visible seizure was status elipticus while on Singulair.

Also - GLA oils can cause/worsen seizures. Such as borage oil and evening primrose oil. For us, fish oil caused seizures. Though! Fish oil also often heals seizures (so, it might be worth experimenting). MCT oil can also heal seizures as can a ketogenic diet (especially in children it’s very successful). Plus, many only have to be on the medical diet for a few years and then can go off if it once better. Modified Adkins Diet is less restrictive and works well for many. Google “Charlie Foundation” for information about the different diets for seizures. Interestingly, if a person fails 3-5 seizure meds, the stats indicate only 3% of those people will ever find a drug that works (this information is on the Charlie Foundation site).

Our daughter also has additional symptoms to seizures - and we’ve been told if this occurs there might be a bigger chance we are dealing with a metabolic (or other disease) problem. Our daughter deals with asthma (was severe - all controlled naturally now), food allergies, chronic stuffy nose, learning challenges, and substantial body eczema (cleared up with the B6 too). Turns out, eczema (skin disorder) and seizures can be connected. The body gives us clues - we need to pay attention to what it’s saying instead of pushing it away. The symptoms can help guide the direction you go.

For example, you noticed things changing with the addition of the glasses. Maybe that is a clue. Does she have any cataracts? If so, that is a clue and can point to many different metabolic seizure disorders (such as RTD mentioned earlier). Also, for some people, the seizures are triggered by visual disturbances - even by looking through a window screen (all the little squares) or by looking at a plaid shirt.

As one person noted keep track of everything. You can purchase an annual planner with daily/weekly blocks to record seizure activity, what kind of seizures, what your daughter is eating/doing, observed/suspected seizure triggers, medications/supplements, etc. It’s very very helpful and a good resource to refer back to years later if necessary. Keeping these notes was critical in finally identifying the main cause of seizures.

Oh! And selenium was a HUGE help to our daughter. There are many research papers online where you can read about selenium and seizures. Our daughter (16) takes 100 mcg a day. You’d want to talk to your doctor (or a good DO) about dosage for a 3 year old since it can be toxic at too high a dose. 200 mcg is the max safe dose for adults. Our daughter had daily seizures until the addition of selenium. One day, after a medical test recorded high levels, we decided to see if she really needed it. We stopped the selenium and within a day, the seizures came roaring back. Started the selenium again, and the daily seizures stopped right away! Remarkable. So, selenium is definitely part of our protocol.

Again - there are so many answers out there for your daughter. With determination, you will find what you are looking for!

Jen

 

[Andrew]

"has anyone had experience seeking alternative treatment plans which work?"

Yes, for metabolic seizures but not for Stickler’s syndrome. I have had an extremely rare, genetic, metabolic condition - known as, 'PNPO Deficiency' - for over 53 years. My Story:

https://www.coping-with-epilepsy.com/threads/40-years-on-vitamin-b6.11674/ (posted 20th Feb 2011)

I have been using all eight B vitamins since the age of 19. I was first prescribed vitamin B6 when I was only five months old. PNPO Deficiency was confirmed via the results of a genetic test in 2012. Lately the ingredients of my Multi vitamin have changed to include vitamin C (Ascorbic Acid, Ascorbate)(I now use all nine water-soluble vitamins). This is where I thought of your 3 year old daughter's condition. I don't know if the specialists have tried Vitamin C?

Stickler syndrome is caused by a mutation in one of the genes in charge of collagen formation. Collagen is a type of fibrous protein that connects and supports other tissues like skin, muscle and bones. It’s sometimes referred to as the “glue” that holds the body together.

Stickler Syndrome | Boston Children's Hospital (childrenshospital.org)

The antioxidant properties of vitamin C (ascorbic acid) and its role in collagen synthesis make vitamin C a vital molecule for skin health.

Vitamin C and Skin Health | Linus Pauling Institute | Oregon State University

Efficacy of Vitamin C Supplementation on Collagen Synthesis and Oxidative Stress After Musculoskeletal Injuries: A Systematic Review - PMC (nih.gov)

Vitamin C is needed for collagen, carnitine, catecholamine, and bile acid biosynthesis.

Ascorbic Acid - an overview | ScienceDirect Topics

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