Unfortunately we have now received some scary news from our Pediatrician. It appears Garrett’s new born screen came back showing him ‘borderline’ for possibly having Galactosemia – a rare genetic condition. Very upsetting news for all of us. We are having Garrett retested and must wait a week for the results.
Galactosemia is a genetic condition that affects 1/60,000 babies. Typical. We suck with odds at our house these days.
The good news – Garrett had a small blood transfusion after his surgery. The blood transfusion could have actually thrown off his newborn screening results, which apparently can happen after a baby has had a transfusion. Thus him showing up ‘borderline’. This next test will determine if he does or does not have the condition. We are hoping he does not have it OBVIOUSLY. And just hoping the screen was thrown off due to the blood transfusion.
The bad news – if he does have it, it is not a very good thing. Here is some info about it:
In individuals with galactosemia, the enzymes needed for further metabolism of galactose are severely diminished or missing entirely, leading to toxic levels of galactose……., resulting in hepatomegaly (an enlarged liver), cirrhosis, renal failure, cataracts, brain damage, and ovarian failure. Without treatment, mortality in infants with galactosemia is about 75%.The only treatment for classic galactosemia is eliminating lactose and galactose from the diet. Even with an early diagnosis and a restricted diet, however, some individuals with galactosemia experience long-term complications such as speech difficulties, learning disabilities, neurological impairment (e.g. tremors, etc)
Galactosemia is sometimes confused with lactose intolerance, but galactosemia is a more serious condition. Lactose intolerant individuals have an acquired or inherited shortage of the enzyme lactase, and experience abdominal pains after ingesting dairy products, but no long-term effects. In contrast, a galactosemic individual who consumes galactose can cause permanent damage to their bodies.
As if the CDH battle wasn’t enough, now we may be dealing with this. I am hoping and praying that our next screen shows that he does NOT have Galactosemia. If he does, we will just have to deal with it. Once again, what choice do we have?
I feel like I may have tapped out our prayer supply chain………however we still desperately need them.
~Janna
Janna, I am always praying for Garrett. But I just have this feeling that this is a false positive because of the transfusion. Also- check with your pediatrician to see if his age at the newborn screen makes a difference. They are normally performed at 24 hours of age. If he was tested at two weeks, that may make a difference...it's worth asking about.
ReplyDeleteAs always Garrett is in my thoughts and prayers <3 -Julia C -
ReplyDeleteOh Janna! I am def keeping him in my prayers! He looks so Good in the pics! I hope this next test comes-back negative! Love u -Nicole
ReplyDeleteStarting the prayer chain up again. Sounds like tgere are lits of possibilities that could have resulted in a false positive. My fingers ad toes are crossed for baby Garrett with lots if prayers headed his way!
ReplyDeleteOMG I really am not that uneducated....no more typing messages on my iphone....all the buttons run together....but I truly am praying for Garrett and the Caravia family!!! <3
ReplyDeleteHopefully the next test will come back negative. Your prayer chain will never be tapped out... we will continue to pray for Garrett and your family. :) Love, Lindy
ReplyDeleteOur prayers are alway with Baby Garrett and the entire family , We are about ready to head down the road ourselves . Julia has 42 1/2 days till our lil guy can come .And You are so right PRAYERS are what we live for in our new life . God Bless , And again you will always be in our prayers .
ReplyDeleteGod's prayer chain is NEVER diminished. Still praying for you and yours.
ReplyDeleteDebi Mann
Teagan and I still pray for him every night, she will probably be more familiar with the name Garrett and baby Caravia then she will be with her own aunts.
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