Silas Today

Dr. Weinstein is in Gainesville, FL – about nine hours from here.  We loaded up the van and drove all the way there on Sunday for our appointment on Monday.  There are many different types of GSD.  With a history of fevers and low uric acids, Dr. W wanted to test for type 1b.  The one thing that didn’t fit was that with this type, Silas should have liver enlargement – which he didn’t.  But, by the time the appointment was over, I was very encouraged, and thought we might have an answer.  Dr. Weinstein is a very nice man and tries very hard to make the kids have fun while they’re there.

However, several weeks later, we heard back from the DNA test, and it was not Type 1b.  Regardless, limiting the sugars in Silas’ diet was working, and I continued to focus on that.  Dr. W had suggested we look into Hereditary Fructose Intolerance (HFI).  GI #2 took blood, and we sent it to Boston University.  They have a DNA test for HFI that catches about 75-85% of the cases, but it was negative.  We found out that Baylor University has a test that looks at the entire segment, so we did a second test with their lab.  It was also normal.

In the fall of 2010, the kids got sick with the flu.  Silas wasn’t eating well and became very lethargic.  I checked his blood sugar.  It was 52, and it stayed in the 50’s for about four days.  After a few days, I remembered that Dr. W had given me a meter that checks for ketones.  It was 3.2 – very high.

Around this time, we had another visit with Dr. I (immunology).  Since I had removed sugars from Silas’ diet, he was not getting those high fevers every month.  Dr. I said that if the fevers were gone, we didn’t need to see him any more.  He said that in the next 5-10 years, we should be able to get a full DNA sequencing done fairly inexpensively, and that may be the only way for us to find the source of the problem.  This was very disappointing, but it lead me to call Dr. W again.  I let him know that we’d looked into HFI like he’d suggested, and the tests were normal.  I also told him about Silas getting sick and the problems we had with his blood sugars and ketones.  Dr. W said his ketones should not be that high and wanted us to schedule another visit at his office – this time an overnight visit with 24 hour blood sugar monitoring.  I am also supposed to page him if Silas’ ketones go over 1.0. 

And that is where we are now; we are scheduled to see Dr. W again in March.

Here’s a summary of some of the things we know at this time:

Note:  This list only focuses only on the syptoms that could relate to GSD.

·         Silas has improved greatly on a low/no sugar diet – with no milk sugars, fruit sugars, table sugar, etc.  So far, he can’t even tolerate any alternative sugars, such as sorbitol, Splenda, aspartame, etc.  He eats protein and complex carbs almost exclusively.

·         If he eats sugars, he has recurring fevers, abdominal pains, gas, skin problems, congestion and increasing irritability.

·         He can go about 12 hours without eating.  Sometime after that, his blood sugars start to fall.

·         Although it appears he can go 12 hours without his sugars falling, he has to eat at least every 3-4 hours or he becomes increasingly irritable.

·         Besides the lows, he has had spikes in his blood sugar.

·         His ketones have been high on several occasions.

·         His uric acid levels are too low.  The first was 0.9; since working on his diet, they have been 1.2, 1.7. and 1.4.  Normal range starts at 2.2.

·         His triglycerides are also abnormally low.  One reading was 39 – and he’d just eaten.

·         Several times, I’ve taken Silas’ blood sugar and ketone levels while he was having one of those terrible screaming spells.  They have been normal.

·         When he’s doing well, Silas sleeps until at least 6:00.  When he’s “off,” he has a hard time falling asleep and wakes up at 5/5:30.

·         Silas continues to take Polyethylene Glycol (Myralax) and Colazol/Balsalazide Disodium (the anti-inflammatory).  He also takes Singulair.  He takes ½ of an adult tablet because all of the “kid” forms contain sugars.

·         I can’t give him pain medicines (or other over-the-counter medicines) because the sugars in them trigger a reaction.

·         He continues to have swelling around his eyes pretty much every morning.  It generally gets a little better after he gets up, although they are almost always puffy.

o   Last summer, we found out that he cannot drink most bottled water.  He was having terrible abdominal pains and his facial swelling got worse.  I have read that the minerals they put in bottled water can be hard on the kidneys.  That reaction along with the eye swelling and low uric acid levels makes me wonder if his renal system/kidneys are affected.

Silas’ doctors now seem to be in agreement that it is most likely a metabolic problem.  They are just not sure if we will be able to figure out exactly which one.  GI #2 recently said it could be something that hasn’t even been discovered yet.  I can only hope Dr. W. is able to help us.

“I am still confident of this:  I will see the goodness of the Lord in the land of the living.”  Psalm 27:13

Janel