Importance of Expanded Newborn Screening!

Many of you know some of my family's story as far as MCAD NOT being diagnosed in time with our 21-mos-old daughter, Kristen, in 1985, as well as having it diagnosed at birth with Kevin (now 16 yrs old and thriving!), but I just wanted to share with all of you of how VERY IMPORTANT expanding NBS screening is (which ALL of you already know!) and how it has touched not only my immediate family but my extended families. We NEEDED it back in 1983 when Kristen was born, but the screening test was still in its early development and information about MCAD and the other FODs (as well as some other metabolic disorders) was not really out there for the general public (many medical Drs didn't even know about it either - some still don't!).

Lives are changed forever when a diagnosis (or NO diagnosis/death) occurs and the experiences run the gamut of emotions and thoughts ~ from tragedy to joy to even the 'bizarre!' Screening may not have been available for us 17 years ago (in IL, our home) but it sure came through a few years ago for 2 of my nieces (in their late 20s) and 7 months ago for Dan's nephew and his wife who happen to live here in NC (where it's mandated to screen for those 30+ disorders ~ although NC still NEEDS to get onboard for some other disorders so it can become a comprehensive state!).

Anyway, a timeline of events may better explain what I mean:

July 21,1985 ~ our daughter woke up vomiting (we were told it's just the flu, let her sleep) and 12 hrs later she was dead from what they INSISTED was Reye's Syndrome (we KNEW otherwise). Six months later when I was pregnant with Kevin, my sister's Pediatrician read about MCAD in a Pediatric journal and mailed us the article. We INSISTED that he be tested when he was born despite our Doctors still insisting Kristen's death was RS.

June 12, 1986 ~ Kevin was born and his blood/urine was sent to Dr Roe when he was still at Duke University (where the expanded NBS test with tandem mass spectrometry was 1st developed ~ so Kevin was one of the 1st newborns screened using the new testing). Dr Roe called and said he tested positive for MCAD. We sent liver tissue from Kristen's autopsy and he confirmed she had it too (even though we already KNEW that and that it wasn't the nebulous 'diagnosis' of RS!). If Kevin had not been diagnosed he most likely would have died at 6 months when he had his 1st illness. Our 3rd child, Brian, born in 1987, is a carrier.

After Kristen's death, my 5 siblings went to be carrier tested and 3 of 6 of us were carriers ~ my older brother had a mix up with testing and never got back to it so he didn't know if he was a carrier or not. He figured when his kids were old enough to have their own children they could be tested for carrier state.

Little did he/we know that when his 2 daughters were pregnant in 1998 or so they decided to be carrier tested with Dr Roe at Baylor ~ they were NOT carriers though ~ the test came back POSITIVE for MCAD! BOTH of them had it. Both have had 2 healthy and unaffected children since their diagnosis. They (my nieces) have made some diet adjustments (and carnitine when sick or pregnant) and are doing well.

Now move to January 2002, when Dan's nephew and his wife had their first child. His nephew knew he was a carrier for MCAD so they were anxious to get the NBS test back to see if the baby had that.

Well, the baby didn't have MCAD but she DID have 3-MCC, an Organic Acidemia! And if NC hadn't been screening for those 30+ disorders, she most likely would have gone undetected until a serious episode would have occurred or worse! Dan's nephew was going to be seeing Governor Easley at a function and he told me he is for sure going to go up to him and tell him how expanded NBS saved his daughter's life and that he's thankful NC mandates screening for these disorders!

So now our families are not only connected through an FOD but an OA and the ONLY way we KNEW was through EXPANDED NBS! When ALL states finally realize that expanding NBS SAVES LIVES, I'm sure there will be more family experiences like our own. But it will ONLY happen when there is UNIVERSAL screening. Although I favor more of a Regional testing approach rather than waiting for each state to buy their own spectrometers etc, the word IS getting out how this expanded NBS can benefit ALL our Families. Along with all the other NBS Advocacy efforts going on throughout the country, there was also a congressional hearing on June 14th that addressed the issue of making EVERY Family and Professional involved with newborns AWARE and EDUCATED about the expanded NBS tests NOW AVAILABLE. Parents have a right to KNOW that there are Labs already doing this expanded testing for a small fee and if their state/hospital does not offer it yet then they can go through those specific Labs.

It will take continued nationwide efforts to make that happen ~ and it will not be easy as all have found out so far, but the GOAL is SAVING LIVES, and it most definitely is a goal to continue striving for!

Deb Lee Gould, Director
July 2002 FOD Communication Network issue