When receiving a diagnosis such as Spina Bifida (or commonly referred to as SB), a lot starts running through your mind. “What the f*ck is spina bifida? Will my baby survive? Oh my gosh, I am going to be a special needs parent?” just to list a few of the questions that erupt following this diagnosis. As I’ve carefully done research, reached out to people I could trust, and asked the specific questions I needed answer to, I have realized that many people simply do not know what Spina Bifida is. The scariest part is that a lot of healthcare professionals don’t know what SB is either. This is the worst part, and the reason why 64% of babies who are diagnosed with SB are terminated. Doctors simply do not have the knowledge to be able to give parents the resources, hope, and help the parents need to be able to provide for their child.
All that to say, I am amazed at how that has not been our experience with our doctors so far. I suppose it helps that we’re within short driving distance to one of the top SB centers in the country. Our doctors deal with this diagnosis and children with SB on a day to day basis. This is their specialty. Because of that, beyond the “required to tell you that termination is an option” moment, our doctors have given us nothing but hope, knowledge, and have been upfront with about what they see with little bear’s case.
So before I dive into the descriptions of what SB is, I wanted to say this first; I have no idea what the next year, years, will bring for us. I certainly would never have chosen this parth for us, and I hate that we’re having to go through it. If it weren’t for the intense love and connection I already have with little bear, things would be even harder to handle. This is not an easy road to travel. It was horrifyingly difficult to walk away from the appointment where you first heard something is wrong with your baby and to remember the earth keeps spinning. It really does feel like everything ceases to move and goes ghostly still. You all of a sudden went from a happy go luck mama in the middle of her pregnancy to the mama of a baby who is going to have to have surgery within hours of birth. You’re going to have to stand there and watch while they most likely go through painful procedures. I’m not even there yet, still got 11 weeks left, but I am having nightmares of watching my little bear in the NICU, unable to take his suffering from him. I think the mamas I am watching who have gone through this already are absolutely incredible warrior mamas. I am going through my initiation by fire right now, but I know I am joining their ranks.
What is Spina Bifida?
SB is a neural tube birth defect that happens within the first 28 days of pregnancy. This means that typically before you even get that first positive pregnancy test, the defect is already in place. There is nothing you as a mama can do about it. Talk about feeling insanely helpless! The Spina Bifida Association (SBA) talks a lot about how you can take massive amounts of folic acid that could maybe possibly prevent SB. But I find this particularly irritating as they imply that SB can be the result of a lack of folic acid. And yet, here I am, faithfully having taken my prenatal vitamins for the past 5 years! And I still have a son who has SB.
Spina Bifida means “open” or “split” spine in the original Latin. SB is what happens when part of the spinal cord does not close properly and leaves an opening or deformity in the spine.
**An important thing to note about SB is that no one case is the same. It can be referred to as a “snowflake condition” because of how unique each individual case is. It is not as clear cut as a spinal cord injury can be. There is no blunt cut off of nerve affected.**
The opening in the spine is often called a lesion or cyst. The location of the lesion or cyst can play a significant role in the baby’s function AFTER birth and as they grow up. For little bear in particular, his lesion is between L4 and L5. While this is as preferable as best best case scenario, it is still considered a very good location. The lower the better as this puts less pressure on the brain and spinal cord. Also, the nerves lower down do not affect significant areas of the body such as breathing and major organ function.
These are helpful pictures that explain what would be most likely affected according to lesion location.
There are four different forms of SB:
- Occulta – this is the mildest form of SB. Typically only one or two vertebrae are malformed and a complete layer of skin covers the deformity. I have noticed that this form of SB usually isn’t discovered in children until later when they start having odd symptoms. I hesitate to use the words “this is the most common” since SB does not present itself the same way with each case. However, it is truly the most mild.
- Closed Neural Tube Defect – similar to Occulta, this is a deformity in the spinal cord, but it can present itself as a deformity of fat, bone, or meninges. Once again, the individual with this form of SB can exhibit little to no symptoms, or it can present itself as full blown paralysis.
- Meningocele – this form of SB is where an actual cyst of fluid forms over the opening in the spine. According to my research, this cyst can still contain parts of the spinal cord, but it doesn’t usually contain the nerves. This cyst may or may not be covered with skin. Also, the individual may have symptoms ranging from paralysis to little or no symptoms at all.
- Myleomeningocele – this is the severest form and from what I’ve seen it seems to be the most common. Just like it’s partner form above, this also includes a fluid filled cyst, but the nerves are often included within the cyst. I believe this form also means that there is usually no layer of protective skin over the cyst. That means there is no protection from the amniotic fluid getting into the cyst and potentially causing further damage to the exposed nerves. And finally, the levels of damage, or symptoms, for this form of SB are once again all over the map.
So, talk about “snowflake condition,” right?! There is no way to anticipate how the individual will exhibit symptoms or what nerves have been impacted or what kind of mobility limitations they will have. Even if a child has full range of mobility when they are born through their toddler years, that is not a guarantee they will have full mobility when reach adulthood. It is slightly panic-inducing writing out these types of SB. As a mother, I want my little bear to have the least severe if he has to have SB. But, he has the severest type, about as close to best case scenario we could get, but still, knowing that’s the category he falls under is heart wrenching.
Common Side Effects of Spina Bifida
Because of the opening in the spinal cord and the pressure on the cord from that opening, this creates something called a tether. As the nerves are exposed and often “float” out of the spinal cord, this pulls down and puts a certain amount of pressure on the brain itself. The brain is pulled down and back towards the skull. This causes an increase in Cerebrospinal Fluid (CSF) as the cerebellum begins to block the spinal cord and the CSF from circulating. Because of the pressure and blockage, the Choriod Plexus gets a message to increase products of CSF which in turns causing the extra fluid in the brain. The extra fluid (depending on how much swelling is seen) is usually called Hydrocephalus. The most common way of dealing with Hydrocephalus is the insertion of a shunt in the brain. A shunt helps release the extra fluid usually through a tube that snakes its way down the body where the fluid is then released and absorbed back into the body via the abdominal cavity. There is an unfortunate 50% failure rate for the shunts. Thus there is often a need for multiple revisions (usually in the form of surgery) for a shunt once it’s placed. I have heard of several new techniques being perfected to replace the faulty shunt system, but as those are still considered experimental, our neurosurgeon isn’t willing to try those out on little bear as this time.
Other common issues associated with SB can include club foot/feet, heart issues, bowel/bladder issues, total paralysis (from the hips down), partial paralysis, kidney issues, Chiari Malformation II, and the list goes on.
Little Bear’s Specifics
His lesion sits right between L4/L5 vertebrae. This area on the spine specifically deals with the outer parts of the lower legs and feet. The chances of him having bowel/bladder difficulties are pretty much guarantee. To what extent will not be known until he’s born and his body settles after surgery. That is something we’ll work with a urologist and pediatrician with once he’s born.
He has a secondary condition called Chiari Malformation II. With his spine being tethered, the cerebellum is being pulled back down towards the back of his throat. From my understanding, this is basically something that goes hand in hand with SB. I do not remember the number, but very few kids actually end up presenting symptoms from the Chiari and it is just something that is there. He does not have club feet and so far has awesome movement of his legs from hips down and obviously bends his knees. Ankle, foot, and toe function won’t be known until he is born. It is nerve wracking, this waiting and not knowing.
All of our genetics and chromosomal tests have come back normal/negative, so we can breathe easier on that front. His heart has been cleared and structurally, besides the lesion and fluid in his brain, he has been declared a very sound little boy. The fluid in his brain is currently measuring at 13mm, but this doesn’t really mean anything. Normal brain fluid typically measures at 10mm or less. We will most like see his numbers rise as he continues to grow between now and birth. It will be the numbers AFTER birth that will actually mean something and be important.
Our little bear has a perfectly formed body, organs, and so far as we can tell, is absolutely cute as a button. His profile looks just like Little Monkey’s did during big brother’s ultrasounds. He is growing at the rate he should, has beautifully long fingers, and feet that look just like his brother’s. He likes to remind the ultrasound techs that he’s going to make them work for their measurements by flipping around and making funny faces. It is bitter sweet feeling his strong movement. I love that he is so active but that does not guarantee anything regarding his mobility after birth. We have another ultrasound a week from tomorrow, so hopefully that will be routine and nothing new will show up.
I am constantly learning more information about SB and while this is a long post, thank you for reading all the way through. The medically intrigued side of my brain finds all of the medical information thoroughly fascinating…until it hits me that this is all regarding my precious baby. It feels like I’m on a never ceasing up and down roller coaster ride. But I think for now, I am okay. I can breathe. I can keep moving forward and I will try my darnedest to make sure that we have everything lined up as much as we can before delivery day gets here.