Thursday, April 15, 2010

Update on Klaw

 Well, I've been keeping this pretty quiet with the exception of immediate family.  Now that Chris is home and aware of the situation, I'll cut to the chase:

Klaw's newborn screening results were positive for VLCAD (very long chain fatty acid deficiency), which basically means his body cannot process very long chain fatty acids.  This metabolic disorder is caused by two recessive genes, so Chris and I are both carriers of this deficiency.  It's rare enough the genetic counselor asked if we could be related.  (We're not; I promise!)  We've been spending a lot of time each week at CHKD getting diagnostic tests done  - everything from blood work to ECGs.  Klaw's visit with the cardiologist went very well.  At this point, his heart is in perfect condition.  They will want to do another checkup in 6 months or sooner if we have any issues.  The cardiologist & Dr. Proud (geneticist) were very pleased.

I was also given a special formula (Mono-gen) that contains the medium-chain fatty acids, which he is able to metabolize.  Initially, I was mixing it with breast milk at first so that he would take to it more readily, but we are now working on getting him to take the formula just mixed with water to help balance out his fatty acid ratio.  A big issue is that breast milk is primarily made up of long-chain fatty acids, so about half of his daily nutrition will eventually come from the formula. Dr. Proud does not want me to stop breastfeeding because of the other numerous health benefits.  This formula should help provide the balance that his little body needs.  I'm looking at the positive side of this (in addition to Klaw's health) which is that Chris will be able to help feed Klaw, which I know he will enjoy immensely, even though we are both big supporters of breastfeeding. I will also be able to enjoy a guilt-free beer or glass of wine!

Basically, this first year of life is going to be the toughest.  Once he gets a little older, his body will be able to handle the imbalance a bit better because his liver will be big enough provide stores of glycogen during times of "fasting" (i.e. overnight, exercising, etc). Right now, he cannot go longer than 4 hours without  eating/drinking and if he gets sick (especially if he has diarrhea or vomiting), we have to respond quickly and have a very specific protocol the ER or our pediatrician MUST follow to prevent hypoglycemia or worse. Once he is older, that limit can hopefully be stretched to 10-12 hours.  He will have to be on a low-fat, high carb diet for the rest of his life. That won't be too much of a change from our current diet (especially once I get back to my vegetarian ways), so I think we will be able to handle it.  Dr. Proud said that this should not interfere with him being physically active, so Chris's dream of having a kid who plays for the Cubs is still on the table.

Virginia is one of the few states that actually does the expanded newborn screening...which is how this disorder was caught so early.  With proper care, it can be managed but had it not been caught so early, the results could have been tragic. We are very lucky in that respect.  As difficult as this diagnosis was for me to digest initially, I know we can handle this.  I had a few "Why me?" cries in the shower and it was very difficult to have to keep this from Chris until he was able to come home, but now it's just going to be part of our lives.

The moment a child is born,
the mother is also born.
She never existed before.
The woman existed, but the mother, never.
A mother is something absolutely new.
“Until you have a son of your own . . . you will never know the joy, the love beyond feeling that resonates in the heart of a father as he looks upon his son. You will never know the sense of honor that makes a man want to be more than he is and to pass something good and hopeful into the hands of his son. And you will never know the heartbreak of the fathers who are haunted by the personal demons that keep them from being the men they want their sons to be.”
Kent Nerburn
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