A surprise - for some.

>> Monday, May 15, 2017

Last November, when Bug was in Hospital I asked repeatedly for an endoscopy. I asked for it then because he was heavily sedated and miserable anyway so why not have him recover there? BUT, we deferred to staff and waited.

On May 1st we took Bug to get that endoscopy. You can read about it here. It was his second time sedated in a week and I was not happy about it but we roll with the punches and appreciate what we receive (All blah blah blah...I am still a tad pissed but also happy it is over).

On May 12th, we met with his Geneticist. In those 11 days Bug had a disgusting amount of seizures and then, on May 9th, he had 4.

May 10th, another 4 and May 11th he had 3. All this last weekend, while asleep, he had no more than 3 a night. And last night he only had 2 and that was as he was waking up.

Could this be a new pattern? Hell yes. Yes it can. And what do we attribute that to? His stomach healing.

We believe that, as the medication began to help his stomach, his seizures reduced. For now anyway. Upon researching the medication we found that it takes 7 -8 days to start being effective. For Bug, because we stopped the med for a day while he stabilized some (he was SOO tired which was contributing to his increase in seizures at the time, that we had to rule out it was the stomach med making him tired) on the 7th day of taking the medication we started seeing the reduction.

So, I point this out to his Geneticist, who was intrigued. Welcome to the WTF BUG? Club. When I mentioned the endoscopy, he pulled up the report: all 5 biopsies were normal. Hooray! Wait? 5? Damn.

Then I mentioned the MRI and he pulled that up to. Remember that MRI? The one that was normal? Well, the report stated, very clearly, that Bug's conus (the end of the of spinal cord) terminates at L3. I read it 4 times. L3. We thought that it terminated at L4 or L5 but we definitely knew it was at least L3. They agree: L3 and THAT is a low-lying conus and a sign of a tethered cord. Another sign, only this one is blinking neon. Another: WTF BUG? moment.

I also mention the reaction to caffeine to which the Dr raised an eyebrow and I said: I know, we will bring up stimulants to his Neuro. More conversations about stem cell research and KBG and we ended we with me walking on air. Things are moving for Bug, in a possibly good direction. Boston Children's called and got us an appointment for May 23rd for their tethered cord clinic. I sent them a message a little bit ago and look at that: getting a second (make that third or fourth) opinion next week. There are a few other fine folks looking at his records, specifically his MRI and we will see what THEY think about normal.


Abnormal test? The hell you say!

>> Monday, May 1, 2017

I started writing this post to detail the amount of times Bug has been refused testing and the number of times we have had to wait for results, beyond normal limits, that is. I was going to point out how his ABR was abnormal and recommendations were made to continue to look into possible hearing loss but once he had his ear tubes put in, another ABR was never ordered and hearing tests were called off because he couldn't follow directions.

I was going to post about how I was told NO to a lumbar puncture for 3 years only to get one, be told the results were normal, and find out a YEAR later that they weren't. That treatment was very successful for a remarkably long time.

About how his first geneticist recommended additional testing and how his Neurologist at the time said NO. Genetic testing that would have told us he had KBG Syndrome in 2009!

I could get into great detail but that doesn't help Bug.

Today, after requesting an endoscopy last November, he finally got one and he DOES have a problem: he has erosion in the top part of his stomach. This is, most likely, caused by his medications but a biopsy was performed to be sure.

Since he woke up from the anesthesia, he has had no less than 10 seizures, 2 while awake. This does NOT bode well for tonight. It all could have been avoided if they had done this test when he was in hospital in November, when I asked. But no, instead, we have three sedated exams scheduled in four weeks. He has seized after the first two, I can only hope he will do better after the last but what are the odds?

Really, I am hoping we aggravated his stomach and the meds that were prescribed to help his tummy will counteract some of this increased seizure activity. If not, this is really just going to be a long, long, long night.


On living low

>> Wednesday, April 26, 2017

First let's have a little lesson:
The spinal cord carries out two main functions: It connects a large part of the peripheral nervous system to the brain. ... The spinal cord also acts as a minor coordinating center responsible for some simple reflexes like the withdrawal reflex."

"Although the spinal column is somewhat flexible, some of the vertebrae in the lower parts of the spinal column become fused. The spinal cord is located in the vertebral foramen and is made up of 31 segments: 8 cervical, 12 thoracic, 5 lumbar, 5 sacral and 1 coccygeal."

Where does the spinal cord begin and end?
For example, lumbar and sacral spinal cord segments are found between vertebral levels T9 and L2, and the spinal cord ends around the L1/L2 vertebral level, forming a structure known as the conus medullaris."

A good read: Tethered Cord Syndrome and Occult Spinal Dysraphism

So....Bug had his MRI and did well, only 3 seizures while waking up from the anesthesia.

We got a copy of the MRI and Glenn downloaded the viewer. It was quite pretty and then we started comparing to normal MRI's and Tethered Cord MRI's. We thought his spinal cord may 'conclude' a little lower (a lot lower, like 3 vertebrae lower) than a normal cord. Parents I know who have lived through this diagnosis saw it and also thought it looked like a probable tethered cord since the cord extends below the normal point. Very clearly. We even thought the bright white spot at the lowest end of the cord is the fatty filum. Classic tethered cord.

We prepared to hear: he needs back surgery.

Instead we heard; It's normal! Congratulations!

I've been crying all day and trying to decide if we get a second opinion. Most people think we should and I am filling out forms and uploading medical records but...I'm just not ready for this type of battle. I'm still dumbfounded it IS a battle. Am I seeing things? I keep thinking I am seeing things. But then I look again and it seems VERY clear: THAT IS A LOW LYING CONUS.

And Bug falls off a chair.

I'm defeated at the moment. Defeated.


Insecurities - what do you think?

>> Monday, April 24, 2017

“Problems are not stop signs, they are guidelines.”– Robert Schuller

Bug is still having bad nights. The caffeine does seem to help him a little but not as much as the first two days. Typical Bug.

Tomorrow is a big day in my book, but not everyone feels like it will be productive or worth. Because I am extremely insecure at that moment, let's go through why I think he needs this MRI and why I give him a 90% chance of having a tethered cord. Let's keep it simple too.

In children, symptoms may include:

  1. Lesions, hairy patches, dimples, or fatty tumours on the lower back
  2. Foot and spinal deformities
  3. Weakness in the legs
  4. Change in or abnormal gait including awkwardness while running or wearing the tips or side of one shoe
  5. Low back pain
  6. Scoliosis
  7. Urinary irregularities (incontinence or retention)

Bug Bum.
Crooked crease or not? Because he wasn't standing
you couldn't see his dimple so I helped a little.
This is the base of his spine NOT his rectum.
That indent there is a sacral dimple.
1. Bug does not have lesions, hairy patches or fatty tumors. He DOES have a sacral dimple and the top of his butt crease is crooked.

2. Bug does have foot deformities that developed over time, so my question is: congenital deformities or deformities caused by something external/internal?

3. Bug has been losing strength in his legs over the last year. These last few days, he can barely walk and his legs give out randomly. He WILL walk but he has to be very motivated and when he does he shuffles. This is not something he has ever done before. It's new. Like really new.

4. His gait has changed substantially over the last year. He won't run or skip like he used to, and his toe-walking is insane now. He has open sores on the top of two toes that I noticed in his bath yesterday. Ya, I cried.

5. I have no idea if he has any low back pain but he won't sit for long and when he does, he shifts around a lot. That COULD mean he was uncomfortable. Who knows for sure? Only Bug.

6. He does NOT have scoliosis.

7. Lately he has been retaining a lot. I mean a lot. He will only pee once a day, twice sometimes but it's always a lot. He used to pee several times a day, now...no more than three times.
So if you look back we can put a checkmark on all but ONE of those categories. And ONE is up in the air.

We also know that depending on the severity of the tethered, blood flow to the brain and extremities can be compromised. That, along with pain, could account for some of the seizure increase as of late. I have all sorts of theories about why we had a good run in December but that means nothing if you can't verify. This MRI will verify.

If he doesn't have a tethered cord, all bets are off. I have no idea where to go from here. We will keep trying new medications but he will have foot surgery. If he continues to toe-walk after the surgery, he may end up unable to walk at all within a few short years. This is a big one either way,  and it IS essential since we can check off so many of those symptoms. So why do I feel so stupid for getting this?


What a Seizure looks like (Graphic Content Included)


Seizure Tracker.com

Seizure Tracker.com
Free online tools to provide people living with epilepsy and their doctors with a better understanding of the relationship between seizure activity and anti-epileptic medication dosages. Reports generated on SeizureTracker.com include detail graphing capabilities and are easily sharable with caregivers.

Diamond Potential Awareness Award

Diamond Potential Awareness Award
Thank you Holly at Diamond Potential for this award. Awareness leads to understanding and acceptance. And let's face it, we all need to feel accepted for who we are. The battle has just begun!

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