All About Liam: Spina Bifida Awareness

Since I started writing this blog, I've had multiple friends and family members say something along these lines: "I didn't know Liam had all of that going on." And I, myself, probably wouldn't know a thing about Spina Bifida, had Liam not been born with it. I mean, when the maternal-fetal specialist said "Spina Bifida," the only thing that came to mind was a wheelchair. I knew absolutely nothing else about it. And God knows you can't rely on television to give you the most accurate information. The only time I had ever heard Spina Bifida mentioned was on commercials sponsored by lawyers: "Was your child born with Spina Bifida? Did you take enter pharmaceutical drug name here while you were pregnant?" Of course, there are some medications that can cause Spina Bifida, but somewhere around 70% of all cases are attributed to a mother's folic acid deficiency, not pharmaceutical drugs. And as for t.v. shows? My husband is lucky I haven't smashed our television yet. To give you one example: during last season's Sons of Anarchy -- one of my favorite shows -- viewers were introduced to Nero's son, a boy who was born with spina bifida. When Jax asks what caused it, Nero utters one word: "neglect." He implies that the child's mother was a user, just like the mother of Jax's child. Forget the fact that Spina Bifida isn't even caused by drug use -- how can anything that is caused before a woman even knows she is pregnant be considered neglect?! It puts women in the very difficult position of being responsible for a child before she even knows that child exists. (The academic in me is SCREAMING that there's a paper to be written on the representation of Spina Bifida in television, but one thing at a time!). 

I was, however, thankful for Parenthood's representation of SB. When Max's friend, who has Spina Bifida, comes over for a playdate, his parents tell Adam and Kristina: "It's more than just the chair." And although they don't go into specifics -- he's not a main character after all -- it's at least acknowledged. I think that's a good place to start: it's more than just the chair.
 
So, in the interest of spreading some much-needed SB awareness, I thought I'd share the specifics of Liam's case. But, first, here are a few general things you should know:
 
"Spina bifida is part of a group of birth defects called neural tube defects. The neural tube is the embryonic structure that eventually develops into the baby's brain and spinal cord and the tissues that enclose them. Normally, the neural tube forms early in the pregnancy and closes by the 28th day after conception. In babies with spina bifida, a portion of the neural tube fails to develop or close properly, causing defects in the spinal cord and in the bones of the backbone." (As defined by the Mayo Clinic).

SB is the most common, permanently disabling birth defect in the U.S. (SBA.org)

Spina Bifida is often referred to as a "snowflake condition," since no two cases are the same. The location of the lesion on the spine determines the severity of the Spina Bifida. The higher up on the spine, the more damage is done. Liam's lesion was located in the lumbar section (L3/L4), and his type of SB -- myelomeningocele -- is the most serious form: "With this condition, a sac of fluid comes through an opening in the baby’s back. Part of the spinal cord and nerves are in this sac and are damaged. This type of spina bifida causes moderate to severe disabilities, such as problems affecting how the person goes to the bathroom, loss of feeling in the person’s legs or feet, and not being able to move the legs." (As defined by the CDC).

The cause of SB is multifactorial, meaning genetics, environment, and nutrition may all play a role; there is still a lot we don't know. The one thing we are sure about is that taking folic acid before becoming pregnant drastically reduces the chances your child will be born with it. And therein lies the problem: if you aren't planning on becoming pregnant, chances are high that you're not too worried about taking a daily/prenatal vitamin. At least I wasn't. Even though I began taking a prenatal vitamin as soon as I found out I was pregnant, it was too late by then. The truth is that Spina Bifida typically occurs before a woman has even missed her menstrual cycle, which means it happens before she even knows she is pregnant. Because I wasn't on any medication at the time that Liam was conceived, and we don't have any family history of SB (as far as we know), our specialist said that Liam's was probably due to me having a folic acid deficiency, or that it was possibly just a fluke: "Sometimes these things just happen." I'm not sure which one makes me feel better. As for future children: my doctor has me on 4000mcg/day of folic acid, basically until I reach menopause, and can no longer get pregnant. Studies have shown that this high dose of folic acid drastically reduces the chances of any future children being born with SB. This isn't always the case, since there are unknown genetic factors, but it seems to be true for the most part.

Here are the specifics of Liam's condition:

Liam was delivered full-term via cesarean section. He was born paralyzed from the ankles down, with clubbed feet, one dislocated knee, and two dislocated hips, and spent the first ten days of his life in the NICU. In the first 13 months, he underwent seven surgeries, of which I'll detail more in the sections below. I still can't believe it's been over two years since his last surgery! He also went through months of serial casting and countless hours of physical therapy, in order to get him to where he is now.

Liam before first surgery.

Click here for video of Liam in the delivery room (you first see the lesion at 2:21).

Prenatal Diagnosis: Because of advanced prenatal testing and ultrasounds, most cases of Spina Bifida are diagnosed while the mother is still pregnant. In our case, it was a couple weeks after our 20-week ultrasound, when they found "larger than normal" brain ventricles. Our appointment with the specialist a few days after the initial call from my OB, confirmed Spina Bifida and hydrocephalus. With the level two ultrasound, our specialist could not only see the larger brain ventricles (indicating hydrocephalus), but also the lesion on Liam's back and his clubbed feet. We would've found out a bit sooner, except that the alpha-fetoprotein screening (a blood test often done sometime during weeks 16-18 of a pregnancy, that tests for conditions like spina bifida and down syndrome) came back as a false negative. Note: Because of advances in prenatal testing, it is estimated that around 80% of fetuses diagnosed with SB are terminated. This is not a topic I'd like to get into right now, but I thought it was important to point out.

It's a Boy! 20 Week Ultrasound

Neurological: Liam had his first surgery -- the repair and closure of the Spina Bifida -- when he was about 23 hours old. I knew from that very first surgery that he was a fighter.

Click here for video of Liam taken right before his first surgery.

Because the neurosurgeon was worried about the hydrocephalus -- excess cerebrospinal fluid (CSF) that had built-up inside the skull (very typical of babies born with SB) -- and also wanted Liam to remain flat on his belly after his surgery, I didn't get to hold him for five whole days.

Mommy finally getting to hold Liam!

Click here for video of Liam after his first surgery, sound asleep and snoring after his first feeding (he couldn't eat before surgery).

About a week after he was born, Liam needed another surgery -- a shunt placement -- in order to control the hydrocephalus. "A shunt is a narrow tube that allows excess cerebrospinal fluid (CSF) that has built-up inside the skull to drain out into another part of the body, such as the abdomen (belly). To drain excess CSF, shunts are inserted into an opening or pouch inside the brain called a ventricle, just above where the blockage is that is preventing the CSF from flowing properly." (Hydro-kids.com)

In September of 2010, Liam needed his first shunt revision, after his shunt started malfunctioning. And in November of 2010, just two months after his first shunt revision and two weeks after his first birthday, his shunt malfunctioned again, which required another surgery. If you're keeping track, that's one shunt placement and two shunt revisions. Thankfully, we haven't had any more problems with the shunt since then (knock on wood).

First Shunt Revision - 10 months old

  
Click here for video of Liam in the hospital after his first shunt revision (September 2010, 10 months old).

Second Shunt Revision & Still Smiling!

Sleeping with his favorite balloon.

Orthopedic: Oh, how we love our orthopedic surgeon, and orthotists, at Lurie (Children's Memorial) Hospital! They have done wonders with Liam. A week after Liam was released from the NICU, we began seeing the doctors at the SB Clinic in Chicago. 

All ready for his weekly trip to Chicago!

We started serial casting on his clubbed feet almost immediately, when Liam was about three weeks old, and his doctor has said starting that early made all the difference. For three months, Liam and I traveled three hours each way to Chicago, every single week, in order to get new casts put on. Each week they would remove the old cast, and replace it with a new one, stretching his feet just a little bit more each time. 

Modeling his casts!

Total Feet Transformation!

Liam's clubbed feet were corrected with three months of this serial casting, along with two subsequent foot surgeries: an Achilles Tenotomy of both legs at about 3 months old (a surgery to cut/release the achilles tendon), and one R/L Posterior Release about a month after his first birthday (a surgery to lengthen the achilles tendon and release the posterior aspects of the ankle). During the last surgery, his surgeon also performed an Adductor Tenotomy of his left hip/leg (the cutting/release of an adductor muscle in the hip/groin area). His dislocated knee was corrected with casting and a lot of stretching (thank you physical therapy!). He currently wears AFO braces, in order to keep his feet from tightening up and turning in again. As for his dislocated hips: new research shows that surgical intervention on the hips too early does more harm than good (something about scar tissue build-up, along with the fact that the hips tend to just pop out again). So, for now, we're not worried about his hips being dislocated. He will need additional surgery on his feet -- his feet/legs have been gradually turning in a bit, and his right foot has always been more problematic than the left, so we're looking at next summer for another foot surgery. Just in time to get him ready for preschool!

Recuperating from his last surgery!

Urological: We're pretty lucky when it comes to Liam's urological issues. Yes, he's needed medical intervention in the way of catheters and medication, but he hasn't had any reflux issues, bladder infections, or UTI's, AND his kidneys function perfectly. Hallelujah!
 
When Liam was eight months old, we went in for a routine bladder/renal ultrasound, and happened to see that the tubing of his shunt (the part that flows freely in his abdomen) had managed to travel into his scrotum and get stuck. Except for causing two hernias, it didn't do any major damage. Since his urologist had to go in to repair the bilateral hernias anyway, we decided to have her circumcise him as well. So she did what she calls a "fancy circumcision."

Click here for video of Liam after that surgery (July 2010, 8 months old).

After that surgery, we began catheterizing Liam. Honestly, learning how to cath him has probably been the scariest part of this whole journey. Of course, now it's easy-breezy, but I swear I almost fainted when they told me what I was going to have to do. I'm not a nurse for crying out loud! To make matters worse, even his nurse and urologist had a difficult time cathing him. The urologist had to schedule a scope procedure to go in and see what the problem was, and found that his bladder is a bit higher than normal. After that procedure and a month of trying to catheterize him, I finally got it down. I often describe it like a tricky lock on a door. You know, there's a very particular way you have to lift and turn the key in order to get the door unlocked. It's simple once you learn to turn and lift the key ever so slightly to the left, but until then, you're locked out. Yeah, it was like that.

Because Liam's bladder is smaller than normal and contracts constantly, the doctor put him on ditropan, three times a day (ditropan is an overactive bladder medication). That's where the cathing comes in. Because he's on the medicine to stop the bladder contractions, I have to catheterize him in order to empty his bladder. When I first started having to cath Liam, I felt suffocated. Like, how can I possibly ever have a life again when I have to cath him every three hours, and I'm the only one who knows how to do it?! But, like everything else, you get used to it.

When we move back home next spring, we're going to explore some surgical options for Liam, in order to get him ready for school. Our biggest concern right now is the fecal incontinence (i.e. he goes to the bathroom when he cries, laughs, or exerts himself). The good thing is it's definitely not as bad as it was when he was younger. And we know for sure that he has feeling in the area, but we don't yet know if he can tell when he has to go to the bathroom, so that's just one of those wait-and-see-til-he's-older sorta things. Luckily, we have lots of options when it comes to this issue.

As for being an adult and living with Spina Bifida: Liam can go on and live a perfectly "normal" life. Adults living with SB get married, have children, have successful careers, etc. The sky's the limit for our Liam.

It goes without saying that there is so much more to Liam than his Spina Bifida. SB is only a very small part of who he is, as I'm sure you can tell from the many other posts about this brave, kind, stubborn, intelligent, funny, adorable little man of mine. 

Hope you enjoyed your SB 101 course; although, I know many of my readers already have an advanced degree in the subject!