I am reposting this from my facebook.

Just in the last week or so I've noticed Audrey having these jerky, involuntary arm and leg movements. Looks sort of like the startle reflex that newborns have, ya know, where they throw out their arms to the sides, their limbs become stiff, for just a moment...but my daughter is no longer a newborn, AND, they were happening primarily after nursing and when she was tired, either just after waking from a nap or before drifting off to sleep, and they would happen involuntarily and repeatedly, maybe 5-10 seconds apart, and have maybe 15-20 of these spasm like movements per episode, and maybe a few episodes per day. That was what got me thinking something wasn't right. She wouldnt cry during them, but during them she wouldnt make eye contact with me; like she was blank, and then after the entire episode was done, she'd start crying...loud, shrieking, inconsolable colic-like crying. Eventually she'd calm down, and fall asleep. I started noticing these and showed them to Trevor. Several more happened since I've been at my mom's, and showed them to her and filmed them. I had this sneaking suspicion that they seemed like some sort of seizure, but the only experience I had ever had with viewing seizures were gran mal, where they'd grit their teeth, fall to the floor, eyes rolled back in the head...and this was nothing like that...

But this nagging inside me kept up and this morning i decided to start searching online. And before anyone says anything, yes, yes there's a certain danger in "internet diagnoses" but I've also learned a great deal through the internet, as did my parents when my dad was diagnosed with his autoimmune disease...it can connect you with people with similar problems when it's so rare that your family doctor may not know about it. Anyway, I was looking for answers, and what i found brought me to tears and prayers immediately.

The more I researched, the more I became as certain as one can be without a positive test coming back that she was having Infantile Spasms. I had never heard of these before, but she has EVERY single symptom, and the symptoms she has I cannot find to be linked to anything else at all, not having all of them like she does, and the age of onset is the age she is now.

Infantile Spasms can be caused by various things, but almost all of them are incurable, degenerative, and lead to varying degrees of mental retardation, and in some cases, death. There are no known FDA approved drugs to treat Infantile Spasms, but there are some off label uses, though these drugs all carry a lot of risk and nasty side effects that some babies' bodies simply cannot tolerate.

Catching it early is one of the best ways to get the seizures under control so that they do as little damage as possible, from everything I read. Sometimes infantile spasms are connected with down syndrome (which she clearly doesnt have), or autism (too young to diagnose autism at her age), but also metabolic disorders (like PKU, which would mean ceasing nursing and putting her on a special prescription diet and formula that's low in protein....and a very hard life to live...)....

I've searched and can't seem to find any safer, more natural cures for infantile spasms either (also called West syndrome in some documents). She did have the metabolic disorder/PKU screenings at birth, but not all hospitals check for ALL metabolic disorders, because there are many...50+....not just phenylketonuria (PKU)....

Evidently the only way to properly diagnose infantile spasms is through an EEG, and then they can do other tests to try to discover what the underlying condition is that is causing them and try to treat/cure if possible both...

I'm in Vegas for 2 weeks for the birth of my nephew (who will be born today or tomorrow), and I cannot get a hold of my doctor until tomorrow to see if he can refer me to somewhere HERE to get an EEG or if I need to fly home early to get her screened. Everything I read said that detecting early is critical so I'll do whatever will get her diagnosed as quickly as possible.

We took video of the spasms which are becoming increasinly more noticeable, to email to the doctor if need be...I also watched videos on youtube of children having thsese spasms who had already been diagnosed, and she was doing literally the *exact* same thing. She has every single symptom. Classic onset is between 3-6 months of age. She will be 4 months old the 27th.

My head is spinning. If it is not infantile spasms, something is definitely wrong, but at this point, after reading for hours countless medical journals, watching videos of children with this debilitating illness, and watching and journaling what is happening with Audrey, I'd be surprised if its not what she has, though I am hoping with all hope that I'm wrong.

I will hopefully know more tomorrow after I speak with my doctor; today when i called, with it being Sunday, I could only get a hold of a nurse who knew nothing, was rude and condescending, couldn't even tell me what to do next, and was quite clearly reading off a flow chart. But, my doctor is excellent so hopefully he can help.

Also, babies are often misdiagnosed when they have this as having colic. They'll stiffen up (the seizures) and after the seizures are over they cry, and it is believed to be stiffening from gas pains and then colicky crying....I am beginning to believe that my doctor may already know about infantile spasms because at her 2 month appt when i mentioned colic, he briefly asked if she was having arm and leg spasms. At the time, she wasn't, so I said no, and he just went on from there; at the time I wondered why he asked me that, but now I see why. Hopefully he can refer me to get her tested asap and find out what is making my sweet baby so ill and get her treated as soon as possible to prevent any brain damage if this is what she has.

There are two types of spasms/seizures with this: extensor, and flexor. flexor ones are less noticeable and involve head bobbing, lunging forward, and pulling knees to the chest. Now that I know what this is, I think she has been doing that for a while now, butjust in the last week or two she's been doing the extensor kind as well, which is more noticeable to the untrained eye, and I videotaped it and it is here on youtube:

http://www.youtube.com/watch?v=lJR-VK0AoBM

Please pray for God's powerful healing, for peace for me and Trevor, for wisdom...and for God's power to be made manifest in my sweet baby girl.

Thank you. I will post updates as I have them. God bless.

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Comments:

Noahs...
Jan. 25, 2010 at 11:33 AM

I'm so sorry Heather!  I hope you can get to a doctor today and get her tested. =(

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LovemyQ
Jan. 25, 2010 at 3:54 PM

oH Heather, I am so sorry you have to go through this!  I will also pray that you can get to your doctor fast and that it is something so simple to treat and that it goes away.  Much love!

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LovemyQ
Jan. 25, 2010 at 3:56 PM

I just watched to video. Yeah, I can see where it would be hard to notice something right away.  but I really wanted to write to say how extremely adorable she is!!!  (love the baby legs)

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momma...
Jan. 28, 2010 at 3:05 PM

I have a daughter with PKU. I don't think she has PKU. My daughter had the highest level the genetist seen when she was first born. And its is not a hard life to live. She is 2 1/2, is ahead of the game. People go all the time. Isn't it hard to manage the diet, It come 2nd hand after awhile, She is starting to learn her food from our food. And its a federal mandate that all babies are tested for PKU. 

Any more questions, you have I will be glad to answer., Just end me a PM since I dont get on here alot.

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asher...
Jan. 28, 2010 at 3:57 PM

i know its a mandate, but she was born at home w/o a midwife. Even still, I still voluntarily took her to be tested, but there are TONS of metabolic disorders, not just PKU, and they tested for a lot of them, but not all of them. I just meant PKU as an example because its the most common one (or best known one i should say)...

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Elyss...
Jan. 28, 2010 at 4:29 PM

I'm so sorry. my son has infantile spasms. Getting the diagnoses was like the world stopped turning... You and your family will be in my thoughts as you see your doctors and get ehr EEG, and find out if she does in fact have IS

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