Hypotonia: Part Two: Causes & Effects

Causes

Never underestimate the passion of a parent looking for the cause of their child's medical concern. I constantly feel like I'm on CSI trying to discover who the bad guy is and all I have to work with are mixed up alibis and a hunch. Sure Down Syndrome is a suspect, but he was having dinner with Cerebral Palsy. Back to the drawing board! With each specialist, x-ray, MRI, CT Scan, EEG, NVC (nerve conduction), blood draw, and examination another clue is uncovered (we hope) or we realize that the suspect of the week is innocent and we are back to square one. Unfortunately, Hypotonia is generally seen as a symptom and usually not a stand alone diagnosis so there are hundreds of things (our Neurologist's words) that can be ruled out or in, depending on your point of view.
The John Hopkins Hypotonia Center offers an incomplete short list of 56 different known causes of Hypotonia with suspects like:

• Down Syndrome
• Cerebral Palsy
• Autism 
• Muscular Dystrophies
• Prader-Willi Syndrome
• Pompe Disease - Rae just had this test done and we are awaiting results.
• Congenital Myopathies
• Spinal Muscular Antropies - two different types
• Benign Congenital Hypotonia (BCH) - From my understanding it's usually given when there is no other explanation.

With so many suspects to run down it is easy to see how new clues presented by another specialist can play havoc with my case against a different bad guy. How long do we continue the search? Yes, I would like to know what is causing her Hypotonia and hope that there is something that can be done. No, I don't like the idea of her being a human guinea pig with all the different tests. At some point enough will be enough and we will eventually end the search for a diagnosis (just being honest here). It just feels hopeless at times. Especially when a new suspect is tossed into paddy wagon with a rap sheet that includes heart murmurs, enlarged hearts and tongues, and a high fatality rate (Pompe Disease). That is exactly what every parents wants to hear. But, I digress...

Basically, the causes of Hypotonia range from severe to mild and everything in between. There is no easy answer, no magic cure, and no turning back. We all have to chase down the a suspect, gather evidence, and determine if he's guilty or not. It's a long, grueling, emotional investigation.

Effects

The other day I was asked by the geneticist, "What caused you to suspect that something was wrong and when?" I stammered a little during my response because initially I started to have that Gut Feeling close to 4 months of age, but didn't really pursue the issue until almost 5 months. Rae didn't roll over. Seems harmless enough...right? Well, it wasn't. Rolling over is important...very important. Now, 11 months later I realize how important rolling over actually is in a babies development. This is one of the few ways that Hypotonia effects infants and it's a pretty mild bump in a pot hole riddled road.

Here's a short list of complications and delays caused by Hypotonia:

• Rolling over, sitting, crawling, walking, running, waving, clapping
• Speech Delays - communication can become problematic
• Limp limbs that hang down at their sides - Rae doesn't hold on when being held
• Inability to gain proper head control - "Floppy Baby Syndrome"
• Difficulty sucking, chewing, and swallowing
• Constipation - it's all about muscle control
• Respiratory issues/Shallow breathing
• Postural issues - Rae has a "C" curve in her lower spine (infantile scoliosis)
• Joint laxity - dislocations are a greater risk for Hypotonic children
• Poor reflexes
• Slack jaw - the mouth tends to hang open
• Emotional melt downs...mine not hers.

Like many other medical conditions Hypotonia can have a wide range of application. Some children are more severely impacted by low muscle tone, while others are less so. In Rae's case, her arms are weaker than her legs and her trunk's (abdominal area) ability is somewhere in between. She doesn't like to put weight on her arms which is why laying on her tummy and rolling over have been difficult to master and can lead to cries of frustration. Sitting up unassisted is still a work in progress and every time she has a growth spurt she regresses. Her head control has increased, but due to its spastic instability we are are still waiting to put a Wee Ride Kangaroo seat on my bike. Even the most simplest of tasks like sucking a bottle or waving bye bye (we're still working on this one) have been difficult for Rae to master. Basically, Rae's muscles are loose and go from tense to relaxed in the blink of an eye with no warning.

There is no parenting book that can tell you what to expect and the best advice and support I have found is on an iVillage Hypotonic Support Group and the Facebook group called Hypotonic Parent Connection. We are all doing the best we can to encourage the development and happiness of our children and each other. I hope this posting helps better explain the, often chaotic, search for a cause and effects of Hypotonia.

In case anyone is wondering...it's not all work and no play.

Sun Beams: Little Victories

I've noticed that many of my postings tend to feel a little heavy and focus on the burdens and stresses that weigh on my weary mind. I don't want that to become the primary voice of this blog and would like to take the time to celebrate our Little Victories.

1. On December 19th, while waiting for a transaction to be completed at Verizon, we noticed that Rae held and drank an entire 8 ounce bottle...by HERSELF! That is quite the accomplishment considering we have been working with her for over three months just to get her to drink from a bottle much less hold it on her own. We were thrilled! I even took a picture so I could remember the moment. Yup, I'm one of those Mom's. *Say cheese!*
2. In the last two weeks we have noticed an increase in her rolling over . Of course she isn't always thrilled when she rolls over, but she'll figure out she can roll back over eventually. I never knew rolling over was such an important building block of child development (until Rae didn't do it) and we hope it will soon lead to army crawling...maybe...I'm keeping my fingers crossed.
3. Rae is back to sitting unsupported for longer than a minute! We actually reached just over a minute and a half during her therapy session this week!!  We were up to almost three minutes before Thanksgiving then she grew. Every time she has some growth spurt or feels under the weather she regresses a little. It's like playing chutes and ladders and we keep landing on the dang chute...Whee!
4. She now has 16 teeth and is not afraid to use them! While I know this isn't a gross motor-skill milestone I am glad she has a mouth full of choppers. From the time she was 6 months till she was about 10 months it was the only thing I could really point to as a big "yippie" in our home. Other parents cooed over crawling, cruising, and walking...we had teeth. Beautiful, straight, white teeth.
5. When being held, Rae has started holding onto the shirt of whoever is toting her around. Doesn't sound like much until you've carried 20 pounds of rag doll around for more than five minutes. She's becoming quite heavy and that tiny bit of assistance is more than welcomed.
6. Her find motor skills are progressing nicely as we now have battles over picking the puzzle pieces out of her foam floor mat. I'll come into the living room and the frog no longer has eyes or the helicopter is missing its rotor blades. I swear I'm going to flip it upside down and duct tape it together.
7. She is using her arms and hands as a form of expression/communication more often. Waving them around when she's happy, tapping them on her high chair tray when she wants "more," and every once in awhile she will sorta wave. The best one so far happened while I was singing "Little Bunny Foo-Foo" and she started bouncing her arm up and down along with mine. It was a wonderful moment for me and it hasn't happened since, but that one time was just what I needed.
8. Rae has some sensory issues, for lack of better wording, and for whatever reason soft, furry toys that talk really upset her. For her birthday she received a shake and giggle Elmo from her Aunt & Uncle and (much to my relief) she LOVE's it! Prior to this bright red, giggling, muppet she would pull her arms back, scrunch up her face, whimper, tears gathering in the corner of her blue eyes, and shake in fear of anything furry that made noise. Her fear of talking stuffed animals has been overridden by her love of Elmo. Ahhhh...the power of Elmo! (la-la-lala...)

Some of these Little Victories are spread out over a month or more and that is just part of living in a Hypotonic World. Everything is done at Rae's pace and only she seems to know what speed that pace is set and when we may arrive to our next milestone. We are all just along for the ride, supporting her development, celebrating our Little Victories, and doing the best we can to not let the frustrations overshadow the joys of this journey.