Flashback 2 - The 3 Month Check Up

Post date: May 18, 2009 9:20:13 PM

This is the second installment in a series of flashbacks prior to the announcement of this website. We started these to give folks some background based on the questions we were getting when the website was first published.

Read the 1st installment, Flashback 1 - Welcome, Baby Boy!

September 5, 2008 - September 18, 2008

Something is wrong

There isn't normally a 3-month checkup for an infant, but we scheduled one anyway. Connor, like his big brother, didn't seem to be eating enough and we wanted to track it in case he had an intestinal malrotation like big brother. Little did we know...

When we got to the doctor's office, we made our usual complaints that he didn't seem to eat enough and he seemed to be vomiting frequently. The doctor was concerned when he saw that Connor had lost weight between his 2-month visit and this visit. He ordered stat blood tests and an ultrasound to check for possible pyloric stenosis (where the lower part of the stomach, the pylorus, spasms and causes vomiting). We got a call back from him late that evening. The ultrasound appeared normal, but there were some abnormalities in his blood results. We should pack up and head to the Children's hospital to get him checked out.

Meet the doctors

At the ER, we were put in an isolation room. They drew more blood. Then they told us he was their #1 priority. That only gave us cause for unease - #1 in the ER meant that it was serious enough to supersede other patients’ injuries. The ER doctor said he was very, very anemic and he was going to order a blood transfusion.

Then we answered lots of questions - Had Connor been a full-term baby or preemie? Can you tell us about your family history? What's Mom's diet? Was she a vegetarian? Did we have relatives with any sort of blood disorder? What was our ethnic heritage? and on and on it went...

We were admitted to the hospital and over the course of two weeks he was on IV fluids and was given multiple (I think three) RBC transfusions. We saw a whole host of doctors – rotations of pediatric hospitalists, hematologists, gastroenterologists, metabolic genetics, and maybe other specialists we don't remember now... They were all stumped. Connor had some very "interesting" symptoms but they couldn't pinpoint a cause.

His symptoms

What were these "interesting" symptoms?

• Anemia
• Metabolic acidosis (high levels of lactic acid)
• Frequent vomiting
• Failure to thrive (a fancy way of saying he wasn't gaining weight)

>Taken alone, they weren't really that interesting. What was interesting was that there was no family history that would indicate he was at risk for any of these. Furthermore, the newborn screening they make all babies get at birth came back completely negative, so he didn't have any of the common genetic illnesses that would result in these symptoms.

The diagnosis

It was the metabolic geneticist who derived Pearson Syndrome as the probable diagnosis. There was also the slim chance that his symptoms were the confluence of multiple causes. The genetic test for Pearson Syndrome would take 3-4 weeks to return results. We were told that the results would be definitive. We could go home to wait for the results. Connor had been "topped off" with blood and fluids, so he would be alright for a while. We just needed to keep an eye on him.

Connor

Just looking at him, he didn't look sick.

Maybe he looked a little pale, but not unusually so. Every now and then a hospital staff person might comment that he looked pale, or had appeared pale prior to his transfusions. We couldn't really tell the difference. Supposedly you can look at the tongue or under the eyelids to see if the area seems pale to indicate anemia.

Connor looked like a normal, healthy, happy baby. He cooed; he played; he smiled his toothless grin. He made cute baby faces and cute baby sounds. He was very alert and attentive. It was hard to think that he was so seriously ill.

We went home.

We prayed.

Hopefully we had poisoned him with lead somehow.

Or his system was vitamin B-12 or B-6 deficient.

Or maybe he had a copper deficiency.

We hoped for all these other awful things because at least they were treatable.

Pearson's was not.

Next up...Flashback 3 - The results are in...