I made these 'learning posts' in June for Spina Bifida Awareness month, but thought I'd make a stand-alone blog so that if anyone is interested, all of the information is here. And I can add as I learn more about spina bifida as well!

Spina Bifida is the most common birth defect in North America. My son Nickolas was born November 13, 2009 with spina bifida and I have chronicalled our journey here, in my personal blog.

I hope you enjoy and learn something!


The information from this blog has been collected by myself to share what I have learned. It should in no way replace medical recommendations or consultation. This is for educational and information purposes only.

Start by picking a topic below:

Wednesday, September 4, 2013

SB University

If you are looking at any information about spina bifida I'm hoping that you will explore SB University.
http://www.sbuniversity.org/

This is an online platform to 'purchase' courses. I say 'purchase' because they are all free, but you still have to add them to your shopping cart and go through the process of buying something, without ever putting in any kinds of credit card information, because it is free.

These free webinars are offered through the Spina Bifida Association.

What is more incredible than free education that I can learn about right in my own family room.

At the end of it you can even print a certificate of completion (If education hours are important).

I'm still currently exploring all of the different webinars offered. But I'm excited about the bowel and bladder management as well as the introduction into school sessions.
It is not aimed specifically at parents, but healthcare providers, educators, and of course individuals with spina bifida as well.

I'm excited to go through more of the webinars and add some education to this site.
But check it out yourself!

Saturday, May 25, 2013

Spina Bifida Awareness Video



This is a video that I created to spread awareness for spina bifida month in June.

Saturday, April 20, 2013

Sharing my take on Bowel Continence

*Updated with some parent resources*


Trying to become socially continent is a journey and a challenge. There is no right answer, there is just a lot of trial and error as well as a progression through various steps. This post isn't about constipation - that would take a whole different post. It isn't about consistency of poop, but about consistency in timing.

I call the bowel a stubborn teenager that yells "I won't do it! You can't make me!" And folds it's arms and stomps its feet until you wear it down but doing the same thing over and over again.

So anything that you doesn't happen over night. To say that something was a fail means that you tried it for weeks before saying that it didn't work.

My knowledge comes from my own experience and what I have learned over the last couple of years. And it is by no means extensive.

We progress through the poop steps of least invasive to most invasive.
There is wide ranges to spina bifida and neurogenic bowel, so there would be wide ranges to the ability to become socially continent.
  • Diet - I had a great dried fruit combo for baby food that kept Nick regular when he was a baby, but this was more about keeping him from getting constipated than getting him clean. Because as a baby diapers is expected. 
    • Staying away from cows milk is also a biggy in our house. For milk we use almond milk or goats milk. Goats milk is easier to digest than cows milk and less constipating.
  • Oral laxative - PEG flakes (Restoralax) we give every morning, in oatmeal, it is quick and easy, doesn't have a bad taste. We can adjust it up and down depending on what we need. Right now we are at 1tsp every morning (but have gone up to 3Tbsp when we really need it). And as I've heard there isn't a maximum dose.
    • We have tried some other medications like lactulose (didn't like it, didn't work, it was a liquid and he needed to take it too often for it work into our lifestyle)
    • Senna we haven't tried. I've heard very negative things about senna and want to stay away from it for now. I've heard that it is habit forming, which doesn't really make sense because the neurogenic bowels need the habit.
    • Omega-3 and probiotics, we used this as a supplement for a while and it made a huge difference, but we still needed the restoralax. We are on a break right now, but I find it makes Nick smell like fish for a while. Will probably start it again soon
  • Stimulation. You are stimulating the muscles to work. This can happen by gently pressing around the anus
  • Suppositories. Again medication. It seems like this has a couple of steps
    • Glycerin is the first step, but we found it didn't do anything to help.
    • Ducolax is a medicated suppository, the medication in it also stimulates the bowel to move. This has been great for preventing or keeping him from getting constipated, and when we do it every day or every other day we get things moving, but I found he is leaking all the next day. So it just isn't working for getting him clean.
  • Enema. This is using liquid (with or without something added to it) to clean out the colon more completely than the suppositories will do. The more comes out at one time with the enema the less that can come during the day. This is a retrograde enema - so it works in the colon from the bottom (literally) up.
    • There are different types of enemas.
    • A regular tip enema, but I found that using this (like a fleet enema) doesn't work. You have to have the muscle control to tighten around the tip, which Nick does not have, so the fluid doesn't stay in, which is the whole point. And just squirts right back out. So this hasn't worked for us.
    • A cone enema, is the step we are currently on. It is typically used for cleaning out colostomies. And it is cone shaped to fit into the hole of the colostomy, but we are using it for a different reason. The cone shape means that we can create a stopper without the muscle control. So the fluid that goes in, stays in to work, and when the fluid comes out, so does all of the poop in the colon.

    • A catheter type of enema - this is newer and more expensive. But it works to do the same things as the cone. Instead of the cone shape it is a tube with a balloon at the end to keep the tube in place and keep the water from coming out.
 
    • Once all of the fluid has been put in, the tube or cone or whatever comes out. This way the bowel is clean as far up as the fluid can go.
  • Surgery. This is the final step. There are 2 different types of surgeries, it takes the enema solution and starts at the top of the colon, (called an antegrade enema) around where the appendix is, and cleans the colon from that point and down. It seems to me to be the most effective way, but also the most invasive - because it involves surgery.


    • MACE
    • What the MACE stands for is Malone (the guy who discovered it in the 80's) Antegrate Continence Enema. So they take the appendix (which is already attached to the top of the colon) and make it so that it connects to the belly button, so that a tube can go into the colon and put the enema solution from the top and clean out the entire colon. It is a laproscopic surgery, it will not interfere with the shunt tip, he says there is a quick recovery from it. On the outside the belly button will just look like an inny (this is how our urologist explained it - I tried to find some pictures to see what the results actually looks like, but I can't fine one). There is something about a flap or something that comes down - so that things don't back up the wrong way.
You need to have an appendix to have this as an option.
This is a chapter in a textbook. It has pictures
http://www.biliaryatresia.org/reference/Malone-procedure.pdf

A helpful parent information package is available http://www.urology.ucsf.edu/sites/urology.ucsf.edu/files/uploaded-files/basic-page/ace_malone_2.pdf

    • Ceacostomy
    • The other kind of surgery isn't really surgery. It is a ceacostomy button. It is when they take a tube, and through radiology guided the poke the tube from the belly into the colon. Then the tube stays in, and on the outside is a button that stays closed when you don't need it. This is just like a g-tube. If it not needed it can be removed.


The urologist was not very positive about this (but he is a surgeon that does the MACE, so I'm not surprised).
The button seems less invasive, but if we are putting something foreign into the body it can get infective, whereas the MACE is more invasive but less likely to get infected or have the body 'reject' it.

There is another parent information package available
http://www.hamiltonhealthsciences.ca/documents/Patient%20Education/CecostomyTubePORTRAIT-lw.pdf


This is so far the extent of my research to share. Other sites I found useful are:

http://www.mededmasters.com/anterograde-continence-enema-ace-procedure.html
http://addberbe.hu/templates/ja_zeolite/images/cecostomy-picture
http://www.docstoc.com/docs/93351272/Information-for-Malone-MACE-Appendicostomy

Monday, June 18, 2012

Lesions, Levels, Sensory and Mobility

It's all about the letters and numbers.

For those not in the spina bifida world there are actually 2 sets of numbers and letters to work with (actually maybe 4), which represent that lesion (where the spine was damaged) or level. One is motor ability and the other is sensory ability. Then there is actual level and functional level. Am I confusing you yet?

Some basics: The spine is made up of vertebrae (bones) that have letters and numbers. From the top down we have 8 cervical vertebrae (C1-C8), 12 thoracic vertebrae (T1-T12), 5 lumbar vertebrae (L1-L5) and 5 sacral (S1-S5).


The spinal cord and nerves are protected by the bony vertebrae. The nerves send messages back and forth to/from the body and brain.
Sensory lets your brain know what different parts of your body is feeling
Motor function lets you brain tell your body, muscles what to do.

 

The lesion means that the protecting bony part of the spine did not develop and the nerves are exposed and damaged. Unlike a spinal cord injury - where there is usually a clear line of function versus no-function, spina bifida can be patchy with lesion levels that might not equal functional level.

So what does it mean?

Sensory level is easy to determine, it just means what does someone actually feel.
Does an infant, child or adult feel when you touch? When you tickle?

  

 You can see from both these pictures that it is not a straight line.
The nerves feed into different muscles and part of the body and it is different at the front and the back of the legs.
With Nickolas, I feel that he can feel down the front of his legs, and up the back of his calf, but nothing at the back of his thigh. So... that would give us about a S1 sensory level.

 Functional level is a little tricky.
Muscles get messages from different nerves - this is called innervation.
When I ask someone to give me a number and letter, they always tell me that it's their best guess. And with infants and children, it will take time to determine. There is also no clear-cut answer.

When scientists all got together in a room and drew all of these charts they had to draw a line in the sand and say 'this muscle = this vertebrae/nerve'
To get an idea of what I mean you can look at this medical illustration linked here.




The Spinal Hub website outlines exactly what function spinal nerves do to muscles. Also a powerpoint presentation here.

Vertebrae
Muscle
Function
C1


C2


C3
Diaphragm
Breathing
C4
Diaphragm/ Shoulder
Breathing/Shoulder shrug
C5
Deltoid/ Biceps
Lift arms, sideways/Bend elbow
C6
Wrist extensors
Lift wrist back
C7
Triceps
Straighten elbow
C8
Hands/Fingers
Grip object

Thoracic

T1
Hands/Fingers
Splay fingers apart
T2
Chest (intercostal)
Allow ribcage move/breathe
T3
Chest (intercostal)
Allow ribcage move/breathe
T4
Chest (intercostal)
Allow ribcage move/breathe
T5
Chest (intercostal)
Allow ribcage move/breathe
T6
Chest/ Abdomen
Ribcage move/Cough
T7
Chest/ Abdomen
Ribcage move/Cough
T8
Chest/ Abdomen
Ribcage move/Cough
T9
Abdomen
Cough, balance
T10
Abdomen
Cough, balance
T11
Abdomen
Cough, balance
T12
Abdomen
Cough, balance

Lumbar


L1
Hip
Bends hips
L2
Hip
Bend, flex hip joint
L3
Quadricep/Hip adductors
Straighten leg at knee
L4
Knee/Ankle
Bend ankle, draw foot back (dorsi-flexion)
L5
Ankle/Toe
Lift ankle/Lift big toe

Sacral


S1
Ankle/Toe
Bend ankle/Point toe (plantar flexion)
S2
Toes/Anal, bladder sphincter

S3
Anal, Bladder sphincter

S4
Anal, Bladder sphincter

S5
Anal, Bladder sphincter


When you start looking up things like this, it is almost like you need a separate textbook to understand what these pictures are telling you! One site that was very interesting in the amount of depth of information came from medical school notes, found here.
I love medical students that put their studying online like flashcards here.


Plain English please!

All of those muscles get confusing!



Especially when your physio talks about 'oh I think there is definitely ____ muscles, not sure about ____ mucles' and you are trying to remember grade 12 biology. So Glutes, quadracepts, and hamstrings are the ones that stick out for me on those pictures.

Muscle Ability
Muscle Group
Nerve Innervation
Thigh flexion

L1, L2, L3, L4
Thigh adduction

L2, L3, L4
Thigh abduction

L4, L5, S1
Extension of leg at hip
Gluteus maximus
L5, S1, S2
Extension of leg at knee
Quadriceps
L2, L3, L4
Flexion of leg at knee
Hamstrings
L4, L5, S1, S2
Dorsiflexion of foot

L4, L5, S1
Extension of toes

L4, L5, S1
Plantar flexion of foot

L5, S1, S2
Flexion of toes

L5, S1, S2
Anal wink

S2, S3, S4

Some sources for this chart here and here.

Muscles receive messages from a number of nerves. Can't anything be easy?!
So trying to determine what a level is by what someone can do or feel is not as easy as the colourful pictures lead you to believe. If you are trying to determine the functional level that your child has, I am just repeating what I found online as well as what our physiotherapist explained to us. I used alot of this information to try to decode or translate what we were told - not to diagnose. (OK maybe I tried to diagnose a little bit when I didn't like what I was being told)

I looked at a bunch of articles that talked about flexion and extension and abduction/adduction. Then I had to look up what all of those meant, and then I had to look up pictures.

Abduction


 Adduction


Knee extension

 
Knee flexion


Hip flexion




This is one of the most frustrating part when you are trying to imagine what you child will be able to do. All of this information and pictures and illustration will not let your child do something that their nerves will not allow them to do.
Labelling your child as a number and letter will not help anything (I can say this from experience and from fighting with myself about wanting a letter and a number). Being aware of what information is out there, and celebrating the achievements and abilities of your child and trying to educate yourself  is what I hope people get out of this information post.

Tuesday, June 5, 2012

Prenatal surgery - MOMS study

Prenatal surgery is now an option for mothers who receive the diagnosis of spina bifida inutero.

Traditionally infants who have a myelomeningocele has the defect (hole) closed in the first 24-48 hours after birth. There was a recent clinical trial who looked at the difference between doing a closure surgery at birth versus before birth. The idea behind this was that prolonged exposure of the spinal nerves to amniotic fluid could impact the damage to the nerves, and so by doing surgery at 24 weeks gestation, the nerves were less damaged as well as a positive impact on hydrocephalus and chairi II malformation.

The MOMS study was a 8 year research study in the United States, and it finished in March 2011 with positive results.  Results of the study was published in March 2011 and it was covered in various news media.

http://www.ctv.ca/CTVNews/Health/20110209/spina-bifida-surgery-110209/


The entire article can be reviewed as published in the New England Journal of Medicine.
Adzick et al. (2011). A Randomized Trial of Prenatal versus Postnatal Repair of Myelomeningocele. N Engl J Med 2011; 364:993-1004

The Fetal Treatment Center is a great resource for anyone who is interested in fetal surgery. They have significant information and pamphlets and state that they are the birthplace of fetal surgery. There is also a booklet on this prenatal surgery that can be viewed online - with the understanding that the information is to put a positive spin on fetal surgery.
With the conclusion of the research and recognition of a positive outcome for children this fetal surgery has more widespread availability. Currently, in Canada, there is not a hospital that has been doing this fetal surgery, but it should be coming to Canada (?Toronto or Vancouver) within the year. That being said OHIP (Ontario Health Insurance Plan) has set a precedent and approved a mother to go to the US to have this surgery.
The surgery is made similar to a Cesarean section (but with mother asleep). There is an incision in the abdomen and uterus of the mother (like in a Cesarean section), But the baby is not removed. The baby is moved so that the back is exposed to the surgeons and it is repaired and closed up by the pediatric neurosurgeon (the same way surgery would be done after birth). Then the uterus and abdomen is closed and mother recovers.



Recovery after prenatal surgery involves rest for mother and monitoring for baby. According to UCSF and the Fetal Treatment Center, the mother would remain in hospital for 4-5 days.
There are blogs that are available to read and follow that review what it was like to have prenatal surgery during the MOMS trial. Anyone who is considering participating in prenatal surgery should read from others who have gone through the surgery.


These are just a few that I have followed.

Benefits of fetal surgery go beyond nerve damage.
What came out of the MOMS study was mostly the impact on hydrocephalus and chiari malformation as shown by a decreased need for a shunt for hydrocephalus.
Hydrocephalus is the result of the chairi malformation, where the back of the brain is being pulled down which blocks the flow of spina fluid. Results from the prenatal surgery found that repairing the back actually improved the chiari malformation with the brain moving back into the normal position, which in turn improves the hydrocephalus.
THIS is the positive benefit as demonstrated by the MOMS study.



Prenatal surgery has documented positives, but there are also a number a negatives that should be considered by anyone who has received a prenatal diagnosis of spina bifida (before 24 weeks) and are interested in prenatal surgery.

I did not pursue prenatal surgery when I was pregnant with Nickolas. During my pregnancy the MOMS trial was still in a trial stage and I was not eligible by living in Canada (among other reasons).
When the research was released in 2011 I did a review about my feeling about the research trial and risk versus benefit on my personal blog. http://www.riddingfamily.blogspot.ca/2011/02/spina-bifida-in-news.html


Spina bifida is one of the only non-terminal indications for prenatal surgery. And it is GREAT for future parents who get a diagnosis. I wonder what it will do to doctors who recommend termination for a fetus that could have surgery? That being said, this surgery IS NOT A CURE. It is never meant to be a cure. It was meant to see the impact on the various complications from spina bifida. Specifically hydrocephalus, and chiari malformation.
 
 
This is my review on the research that came out of the MOMS research trial:Looking at the results (and coming from the perspective of a L&D nurse) I can't help noticing the impact on the uterus. 1/3 of the women had a weak scar from their surgery - and 8 women had their uterine dehiscence (start to come apart). It gives me shivers just thinking about it.

So it is not risk free. This affects this mother, this pregnancy and subsequent pregnancies with multiple scars on the uterus. It is not something to take lightly (Not that ANY of the women who participated took this surgery lightly).

Premature labour, premature water breaking were significant. Not only are these kids going to be born with spina bifida, but also risks of being premature.
How premature? 13% were born under 30 weeks. Under 30 weeks!  33% were born under 34 weeks (before lungs are mature). Another 33% were at the later premature phase and only 16% were term. Compared to 85% of post-surgery babies who were term. In the scheme of things I guess prematurity can be outgrown and nerve damage can't. But I've never had a premature baby.


The need for a shunt was decreased (but not eliminated). Only 65% of the prenatal group met the criteria for a shunt placement - and only 40% had a shunt placed. (Not quite sure why there is a difference between needing a shunt and getting one - but maybe I'm not reading it right). The postnatal group (like the general SB community - I think) had 92% had criteria and 82% had a shunt placed.
The Chiari - 96% postnatal group had Chiari malformation (again typical). But only 64% in the prenatal group! And these babies were more likely to be mild. The Chiari still worries me, but Nick's chiari is not symptomatic. The introduction of the article, which talks about herniation of the hindbrain - scary! It does not mention that this is often not symptomatic. .




The second primary outcome does say that the mental development index and functional level (not sure why mental and motor was clumped together) was significantly better in the prenatal surgery group. Looking at the actual numbers of the mental development index - there wasn't a significant difference between the 2 groups.

About the functional level - yes there was a difference. 32% of the kids who had prenatal surgery functioned at 2 or more levels higher! I'm amazed. As well as more likely to not use assistance to walk.
NO difference in cognitive scores.
One final note. The discussion part of the article says that the surgery decreased the risk of death. I'm not quite sure where they got this. There were 4 perinatal (before birth) deaths, and 2 preshunt deaths (in the prenatal surgery). So I'm confused about how surgery decreases the risk of death. It also mentions the improved mental function scores. From what I read I don't know how they came to these 2 conclusions. But I know that I am sensitive to the possibility that spina bifida and hydrocephalus (with chiari thrown in for fun) can cause Nick to have a mental disability.



I do not mean to be negative about the article or in any way about the women and children who participated. I can only imagine how brave it is to be part of an experimental study where your child and yourself is put at risk (and/or benefit). It is a great thing for those who participated and those who planned and wrote about the study. It is an excellent study that opens to door to so many new possibilities. But I've studies so many research papers during my nursing school years, and I guess my mind still critically analyzes these papers.

Monday, June 4, 2012

Prenatal Testing - a diagnosis

There are a number of prenatal tests that you do when you are pregnant.

The first test that they offer is called the Integrated Prenatal Screening (IPS), at 11, 13 and 15-18 weeks gestation. The IPS gives you a statistic  probability that your child will have a genetic problem such as Down Syndrome, but also spina bifida.

The IPS test uses measurements from 2 different blood tests and one ultrasound, as well as looks at mother age to give a statistical probability of different problems.
The IPS screen measures the level of a protein called alpha-fetoprotein (AFP), which is made naturally by the fetus and placenta. During pregnancy, a small amount of AFP normally crosses the placenta and enters the mother’s bloodstream. But if abnormally high levels of this protein appear in the mother’s bloodstream it may indicate that the fetus has a neural tube defect. [Diagnosing Spina Bifida in Infants - I don't actually like the article - but the definition is good]

Of every woman who takes this test 2-3% will have a positive result - but most of these women will have a false positive and everything is fine. A false negative is rare - it would mean that there is not a high level of AFP in the mothers blood system. But it is possible to still have spina bifida (as we found out)

Statistics are a funny thing. When I was pregnant with my daughter Katheryn we had a false positive (1 in 7 chance of having a child with trisomy-18).  With Nickolas we had a false negative, I later found out that our probability of having a child with spina bifida was 1 in 800, higher than the average of 1 in 1200 (in Canada) but definitely below the limits of a positive result (1 in 100).
Well, we were that 1 person in 800.

There is current research suggesting that early prenatal ultrasound measurements at 11-13 weeks could be used as an early detection of spina bifida.

The second round of normal prenatal testing is usually around 18-20  weeks and is another ultrasound. This is usually the one everyone is so excited about because you can sometimes find out the sex of the baby. But they do alot more than just look at the sex.
Different measurements of the head and face as well as the body can be made - it is called an anatomy scan.


In the case of spina bifida the back lesion (missing vertebrae) may not be seen in ultrasound, but other markers (clues) can be seen on this 20 week ultrasound. Ultrasound findings of a lemon sign (lemon shaped head), banana sign (cerebellum shaped like a banana) or absent cerebellum (or not visualized - doesn't mean it is actually missing) all suggest that spina bifida is present.

All of the regular prenatal testing is meant to clue in the doctor/midwife that there could be a problem. Additional testing would then be done to follow up with the initial findings.

The first, least invasive test is a second level ultrasound (level 2). Often a mother must travel to an unfamiliar medical centre for this test with doctors that she doesn't know.


This additional ultrasound is more targeted to look more closely at the specific markers that came up in the regular anatomy scan. The ultrasound is usually done by a specialist who understands high risk pregnancies.
For the mother, it is not any different from all the other ultrasounds. It might take longer and more turning, moving for an accurate picture.

In my experience, my second level ultrasound lasted over 1 hour and there was lots of flipping and flopping to get the right measurements. The ultrasound technician is not allowed to tell you anything. But when an ultrasound takes over an hour it is not a good sign.
I was lucky that a doctor was able to talk to me that day, and that I didn't have to wait to hear the words... spina bifida.

Additional testing was offered to try to get more information.

This additional testing is more invasive and does come with a risk.

An amniocentesis is when they take a small sample of amniotic fluid (20mL) to examine the fetal DNA. An ultrasound is used to help to guide the needle.  It takes only a couple of minutes to take the fluid, most of the time is waiting and getting into the right position.


The needle poke is not much worse than getting blood taken (not nearly as much pain as you have in your head you would feel if someone stuck a needle into you belly). It mostly just feels weird. I thought you would need a bandaid or something. But it just leaves a tiny red mark.

The puncture site heals over in 24-48 hours and you are supposed to take it easy. An amniocentesis does come with a risk of miscarriage and infection. Some parents do not believe that the risk of an amniocentesis outweighs the benefit of reaffirming a spina bifida diagnosis and ensuring there is no other chromosomal problems.

To reaffirm the spina bifida diagnosis, the amniotic fluid will show increased AFP levels. It takes about 48-72 hours for a FISH study. This is just a quick chromosome count and will rule out a trisomy chromosome (where there is 3, instead of 2). It also counts the X and Y and will tell you girl or boy.

Another test in the prenatal arsenal is an MRI.
The MRI uses a magnet and radio frequency to show internal structures. It allows you to look at soft tissues easily and does not expose mother or child to radiation.
It takes about 45-60 minutes of staying still in a very enclosed space with loud noises moving around you.
Personally I sang the words of the Phantom of the Opera in my head, with my eyes tightly shut. I got through Act I.


You get a cool picture at the end of it.
You can actually SEE the spina lesion at the base of the spine - see the white line - that's the spinal cord, and see how it's open to the skin?


The results should be reviewed by a doctor who actually knows about spina bifida. Our genetics doctor was our go-to person at the high risk pregnancy clinic, and he had valuable, up-to-date information about what spina bifida is.
Our MRI results were reviewed and explained to us by a pediatric neurosurgeon, and who was the same doctor who would eventually do the surgery. We also talked about plan of care and what to expect with the developmental pediatrician at the local spina bifida clinic.

All of the information that is relayed to parents (and family) by medical professionals should also be screened by WHO is telling you. A family doctor, regular OB, midwife deals with normal pregnancies. This is a pregnancy that has become different. The family doctor, OB, midwife may never have seen an infant or child with spina bifida and their information may be coming from textbooks that are decades old.

To get true, valuable information about the results of what you are dealing with, you need to go to doctors who do this. Doctors who know what spina bifida looks like.