Monday, September 22, 2008

So, Mom is thinking...

I was thinking about Benji's diagnosis' here lately. And it's not that I am worried, more so concerned and there is a difference. Something in my gut is telling me that we are missing something. Let me explain.

Benji was born and at about 18 hours we got the notion that something was wrong with his heart. The resident pediatrician at Baptist heard a murmur and was concerned. He wanted to have it checked immediately instead of waiting a few days. That led to the craziest week I think I have ever had in my life. Within 10 hours Benji had his first of many echos, the cardiologist discovered that Benji has a bicuspid aortic valve which resulted in the murmur. That in an of itself is not a red alert, people live their entire lives with the malformed valve and are okay. His has stenosis too so that gives him yellow to orange alert. It has to be monitored. The red alert was his aorta as it come out of the heart, he had what was called a CoArctation of the aorta. The aorta was too narrow to allow the blood to flow to the lower extremities. So at one week of age Benji had closed heart surgery. The surgery used a process of subclavian flap to fix the aorta. They also closed the patent ductus arterious. So... symptom one, Heart defects.

While he was in childrens it was suggested that he be monitored for hypotonia especially with his hips. His first pediatrician didn't think anything about it. But we got hooked up with Early Intervention and Foundations and they were concerned with it. Kept referring to him having low tone. I have just recently come to understand this. It doesn't mean that he's not strong. It means that neurologically the muscles aren't working the way they are suppose to. So.. symptom two, hypotonia.

Once Benji was home and settled, we noticed that if I nursed him after drinking milk or eating cheese, or ice cream little guy would get really bad gas and sometimes throw up. So we removed milk products from my diet and he did great. He nursed for 14 months after the doctors told me that he probably would have to be a bottle fed baby. But, he was definitely allergic to milk. So... symptom three, lactose & casein intolerant.

We also noticed Benji was particular about fabrics. He loves satin and smooth fabrics where the rough fabrics upset him. When he was little little he LOVED going to the store and such, you know when babies typically get overwhelmed? Now he gets overwhelmed... now that he is 3. A few months before his third birthday he was diagnosed with Sensory Integration Disorder and borderline PDD-NOS or Asperger's The problem there is that he matches AS except that he also has Speech Apraxia according to the SLP. So... SID, possible autism, and Speech Apraxia.

Then to make things fun last December we got the dx of ketotic hypoglycemia after he had a hypoglycemic seizure when his sugar dropped to 22. They at first thought that maybe his propranolol could have contributed to it but he's been off since May and over the summer we had two incidences where it dropped to the 60s after play outside in the heat.

And the last thing is he is flat footed and bow legged. LOL... seriously now... his ankles pronate and he is to wear inserts that help him ALOT.

Anyhow... my concern is with all of this going on with him and all the therapy he is getting, are we missing something? Is there a bigger dx that includes all of this? And no, he doesn't have Downs Syndrome and it's not Cerebal Palsy. My concern goes along the lines of it being something neurological. My dad has progressive super nuclear palsy (Parkinson's Plus), my great aunt had MS, and my grandmother has essential tremors.

Anyhow... I am going to get him back into the peds here within the month to push for neurological testing. I think that is the next best step. I know when we went through the genetic testing they had asked if neurology sent us to them.

Gotta go... gotta leave in 15 minutes...

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