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Damian, 3-MCC, 4 months (Newborn Screened!)
(MHBD) 2-Methyl-3-Hydroxybutyrl CoA Dehydrogenase deficiency
(2MBCD) 2-Methylbutyryl-CoA Dehydrogenase Deficiency
(HMG) 3-hydroxy-3 -methylglutaryl-CoA lyase deficiency
(3-MCC) 3-methylcrotonyl- CoA carboxylase deficiency
(MGA) 3-Methylglutaconic acidemia or 3-Methylglutaconyl-CoA Hydratase Deficiency
5-oxoprolinemia
(D2-HGA) D-2 Hydroxyglutaric Aciduria
(GA-I) Glutaryl CoA Dehydrogenase Deficiency Type I aka Glutaric Acidemia Type I
(ICBD) Isobutyryl-CoA Dehydrogenase Deficiency 3-Hydroxyisobutyric aciduria
(IVA) Isovaleryl CoA Dehydrogenase Deficiency aka Isovaleric Acidemia
(L2HGA) L-2-Hydroxy- glutaricaciduria
(MA) Malonyl-CoA Decarboxylase Deficiency aka Malonic Acidemia
(MMA) Methlymalonic Acidemia
(BKT) Mitochondrial Acetoacetyl CoA Thiolase- (3-Ketothiolase)
(MCD, holocarboxylase synthetase) Multiple carboxylase deficiency
(PA) Propionyl CoA Carboxylase Deficiency aka Propionic Acidemia
(HIBCH) 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency

Damian was born on April 27, 2008 at 3:41 pm and weighed a healthy 8 lbs. 9 oz.  He is our sixth child and all our children had been perfectly healthy so when the nurse took him to do his first newborn screening test, we really didn't give it a second thought.  And I didn't have to give it a second thought until Damian was five days old.  That's when the pediatrician called us personally at 7:00 pm.  I instantly knew something was wrong.  She told us that Damian's newborn screening had come back abnormal for 3mcc.  I was in such a state of shock that I didn't really ask her any questions.  She asked us a few questions about how he was doing (was he sleeping too much, difficult to wake, any vomiting, etc.) and since he seemed to be doing fine, told me that I had to take him to our local children's hospital first thing in the morning to get a second screening done and have a urinalysis.  We also had to take him to see her the next day to she could verify that he was in fact doing okay. 
 
Of course, once my mind wrapped around what I had just been told, the first thing I did was look 3mcc up on the internet.  That was a big mistake!!!  All I found were horrible scenarios!!  That night there was no sleep for me! 
 
After getting the tests done the next morning we went to see the pediatrician.  She confirmed that Damian was perfectly fine.  She also explained that the horrible things I found on the internet were what could happen to a child who had 3mcc and was not diagnosed early.  Diet and supplements can prevent all those things from happening.  She told me not to worry too much until we got the results from the urinalysis and second newborn screen.  But of course, I worried about it every minute of every day!
 
After about a week, the results came in and again confirmed the 3mcc diagnosis.  The doctor ordered some blood tests, which in another week came back with the same thing, Damian had 3mcc.  We were seen by a geneticist who helped us understand a bit more about 3mcc and what Damian's future held for him.  They also had me tested to make sure that it wasn't me that had 3mcc (it can pass through the placenta) but my tests came back negative.  He was also put on L-carnitine, which he has to take 3 times a day and we were referred to a metabolic specialist at the Children's Hospital of Philadelphia.  We are now waiting for test results to come back for 4 of our other children.  We only know for sure that our 2 year old daughter is negative because she was newborn screened for it.  Our state did not begin testing for 3mcc until about 4 years ago.
 
Damian is still perfectly healthy and thriving.  Without the newborn screening diagnosis things could have turned out much worse.  Newborn screening may have very well saved our son's life!  Thank you for helping promote awareness of newborn screening.
 
Sincerely,
Laura
Mom to Damian

motheroffour32@gmail.com

 

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