Friday, June 5, 2009

A 3 Week Trial

We went back to the GI Specialist today for a follow up appointment.

You may remember that we did an Upper GI Series last week. We were pleasantly surprised to find that the upper digestive system was all developed correctly. "A few episodes of deep penetration were observed during active swallow" and "an episode of reflux to the upper esophagus" was observed within than two minutes of eating. Thus they started him a prescription of Prevacid.

Ryan has lost 12 ounces since we were there last. Thus, the diagnosis "Failure to Thrive (FTT)" became official, simply meaning that Ryan is not growing at the rate he should. His growth curve has not only flattened out, but has actually started to drop. We had previously discussed that we may need to have a feeding tube surgically implanted into his stomach. However, since there are no abnormalities in the upper GI, we are going to try supplementing his normal eating schedule with a prescription formula. They would like for him to eat an additional 16 ounces of a high caloric, pre-digested, lactose free formula. We estimate that he is currently only eating about 16 ounces of breast milk each day. Thus, this will basically double the volume of food he's taking in. It should be interesting. We're going to try this for almost 3 weeks. If he doesn't gain weight, or has a negative reaction to it, then we'll have to revisit the idea of the feeding tube. But, we are hopeful.

We also changed the prescription for the reflux. It became obvious after about a week of using the Prevacid that it was making Ryan's tummy hurt. So, we're going to try a new prescription and see if that helps.

We are still waiting for the repeat bloodwork results to come back. They had the results; however, their computers were down so they couldn't view them. We know the original blood work showed:
BUN/Creatinine Ratio HIGH
Carbon Dioxide, Total LOW
Calcium, Serum, HIGH
Albumin, Serum HIGH
A/G Ratio HIGH

And, his urinalysis showed an Abnormal Trace of WBC Esterase

I don't even know what all of that means, but hopefully the repeat bood test & urinalysis will be clear of any concerns. We should hear back from the Dr's office later today or tomorrow.

Wednesday, June 3, 2009

Test results - Whew ...

I just got a call regarding one of yesterday's test results. It was a "free flowing venous lactate" test. Thankfully, it came back within normal levels, which means no muscle biopsy! Whewhoo! 1 down, 2 to go ... well, kind of 2.

Just before getting those test results, I scheduled his CF Sweat test for June 19th. (Yes, I had been tested before to ensure that I'm not a carrier. However, when I did the test 10+ years ago, they were only checking for 50-90 mutations of the gene. They can now check for 1500 mutations. Thus there is still a possibility.) This is a non-invasive test and since Ryan's sweat is extremely salty, it makes sense to rule CF out, especially since it's what my sister had.

And, we also have the modified barium swallow test on June 18th.

Tuesday, June 2, 2009

More tests and Dr Stratton

We went to see Dr Stratton, the Geneticist again at the recommendation of our Pediatrician. He thought it might be wise since we now have the additional “symptom” of the submucous cleft palate. (There were genetic/chromosomal issues that we had eliminated based on the absence of the cleft palate.)

I really like Dr Stratton. I love the way he explains stuff to me in such great detail. He has an amazing way of mixing medical terms with simple terms to make everything seem so simple to understand. Plus, he draws good pictures. Today he reviewed all the previous diagnosis, Ryan’s history, and the prior tests that we have done. We discussed in great detail the results of January’s MRI. He was pleased to see the Radiologist who read Ryan's MRI was one that he feels a high level of confidence in his skill.

The MRI, in case you don't remember, came back inconclusive. However, the radiologist had noted that there were areas of over sulcination and polymicrogyria. Dr Stratton drew pictures and explained polymicrogyria (PMG). The PMG could certainly explain the vision issues, the developmental delays and the seizure disorder. However, it doesn’t really account for everything we are seeing with Ryan.

Dr Stratton is confident that there are lots of things we can rule out, especially since we had the Chromosomal Microarray test done and it came back negative. Additionally, he was glad to see that we had already received a negative test result for DiGeorge syndrome, which Ryan has some strong indicators of also.

Today Ryan weighed 15.2 pounds. He has lost 14 ounces since his last dr's appointment less than a month ago. Many of you have commented on how healthy and chubby he looks, but apparently looks really can be deceiving. I think there are 2 reasons why he doesn't seem little. One, he still behave like a young infant so it creates an illusion of him being bigger. (Does that make sense?) And, second, he seems to store all of his fat on his arms and legs, but very little on his core.

Of course, what really matters is his personal growth curve. Deborah has always been on the little side, but Ryan is falling farther away from the growth chart's bottom percentage, and his "curve" was becoming more of a straight line, but apparently is now starting to go downward.

Dr Stratton discussed the pros and cons of doing a g-tube into his little tummy. We'll be discussing that more on Thursday with his GI Specialist. I still have really mixed feelings about it. It didn't help when Dr Stratton, obviously not thinking, said, "Of course, it carries all the risks of any surgery. I've seen babies die on the Operating table during a minor surgery because an artery was in an unexpected place." Nice, right? It's a good thing I am already aware of this risk. Otherwise, Dr Stratton might have had a blubbering mom on his hands.

Anyway ... Ryan's head continues to be up in the 95+%, and is especially concerning considering the size of the rest of his little body. The big head and the hypotonia can possibly point to other diseases that we're just going to skip naming. Dr Stratton gave them to me with a strong warning not to go home and research them. Of course, I did come home and research them. I'll spare you the option.

After a very thorough examination and a long conversation, he ordered more blood work and an urinalysis: 3 Tests. It took 2 urine bags to get a good collection, and 1 hour to find his tiny little veins under the fatty pads of his arms and legs. They finally managed to get one collection from his right foot. They then tried a tiny vein by the thumb side of his wrist, which they never could hit even though they could supposedly see it. And, then they went back to another vein in the right foot. Unfortunately, they couldn't use his right arm, which seems to be the best place on him, because he had a bruise there from Monday morning's blood draw.

So the test results ... One should be back by tomorrow morning. If that one comes back positive, then Ryan will need to have a muscle biopsy, which means we may need to reschedule his upcoming surgery so that we can do it at the same time. The 2nd test result should be back in 1-2 weeks and the the 3rd test result will not be back for 4-6 weeks because it is a DNA test, which apparently is sent off to a very busy lab.

Please pray all these tests come back negative.


If you love raspberries, like I love raspberries, I bet you'd feel quite sad if you saw this in your sink. What you probably can't see from the picture is that ALL of these yummy looking raspberries have mold on them. Bummer, right?

But, then the joy! See these:

These are 1/4th ... yup that's right one quarter of the yummy ready-to-eat raspberries. (That's an 8 cup measuring bowl.) Oh, the joy!!!

Our friend Michelle shared the opportunity to buy a FLAT of raspberries for $6.

So, we bought 5 flats. The kids ate a full flat right after I got them home. I couldn't even keep up with Deborah. She really loves raspberries!

But finally tonight I cleaned the rest of them. I put about 16 cups in the freezer, 8 cups in the refrigerator for the kids tomorrow, and took this big bowl and this wonderful bar of white chocolate with coconut (melted of course) up to our bedroom. Dwight and I watched a movie and enjoyed these yummy raspberries and white chocolate.

Wish you could have been here!