Just imagine if ALL babies across this country had been UNIVERSALLY and UNIFORMLY tested as newborns what the FOD Cost Benefit data sheet (see right sidebar) might look like—with alot LESS medical care dollar amounts and certainly ALOT LESS HEARTACHE! Why WAIT for a medical crisis to occur—let's get out there and Promote Expanded Newborn Screening so ALL families, no matter what state they live in, can know right from the beginning what they and their child/children are dealing with! With more states and countries mandating expanded newborn screening, we are hearing more Success stories with babies beginning treatment as early as possible ~ however we still have some tragic stories from when ENBS was not offered ~ so please be aware of that when reading the stories.

Families in Canada are also becoming aware of the importance of expanding their Newborn Screening. One of our newest Families is trying to network with other Canadians affected by an FOD (or one of the other metabolic disorders that can be detected through tandem mass spectrometry). Tammy Clark experienced the tragic death of her 9-month old daughter, Jenna, because her MCAD was NOT diagnosed at birth. She, like many of our Families that have gone through a similar experience, feels and KNOWS that NO FAMILY should have to have a child die! And if she lived in Saskatchewan (a province that currently screens using tandem mass spec), Jenna most likely would still be alive! Unfortunately it's similar in some states in the US ~ it should NOT matter where you live ~ ALL babies should be screened AT BIRTH ~ and NOT through an autopsy! Medical Professionals also NEED to become aware of disorders like FODs in order to broaden their Differential Diagnoses skills (i.e. when a parent brings a child to the ER) so that they can move beyond the 'It's ONLY the flu' type of diagnosis! Too many of us have heard that before! If you would like to join forces with Tammy and get the word out about expanded NBS in Canada, please contact her directly ~ change IS possible because 'We Are All in This Together!'

[Please Note: As co-Founder and Director of this Group, I strongly advocate a Regional Testing Lab format (PDF*) utilizing already established and effective NBS Labs (see right sidebar, Diagnostic Labs...), as well as Regional Labs that may be developed in the future. My view may not be 'politically correct,' but I believe it will save lives! Although several states have already implemented (or are in the process of implementing) various levels of mandated expanded screening utilizing their own Labs, while we wait for EACH state to 'discuss' IF and WHEN and WHOM will do the testing of some or all of the disorders that can be screened for at this time, MORE BABIES ARE NEEDLESSLY DYING! Unfortunately, politics and money are two of the biggest issues that are causing debate across this country ~ and again, while these debates are going on...delays in testing AND early treatment are causing higher residual medical complications and for MANY families, death. I have already buried one child in my family and I refuse to sit back and be silent. EVERY family in this country, especially those that live in states that do not do expanded screening, should be made aware that there are Labs around the country (listed on our Medical Info page, Diagnostic Labs) that are already equipped to do this screening and very experienced in interpreting the results ~ USE THEM ~ it may save your child's life!]

Deb Lee Gould, Director, FOD Family Support Group

Our daughter Gabrielle is 3 years old and has MCAD. I would like to call her an ‘MCAD Success Story,’ because Expanded Newborn Screening did its job for her. Thank you to every person who advocates for Expanded Newborn Screening.  She is healthy and strong and has had no MCAD related issues. Gabrielle was diagnosed at 8 days old. Here is her story.

We got the phone call at 4:00 PM on a Friday afternoon. Gabrielle was 8 days old, and her sister (age 3 at the time) and I were enjoying a quiet day at home. The pediatrician’s office called, and I didn’t pick up the phone, because I thought it was just a ‘reminder call’ about Gabrielle’s check-up on Monday morning. Then the phone rang again; I answered it but no one was there. Then my cell phone rang. Then the phone rang again; this time I answered it on the first ring. The pediatrician’s medical assistant was on the phone asking us to bring in Gabrielle right away. Her exact words were, “The doctor needs you to come in to see him now. He needs to talk to you about her PKU test.”  What?  She gave nothing away about the seriousness. Despite the fact that it was 4:00PM on a Friday afternoon, for some reason this didn’t worry me at the time. How could I know that our lives would change forever? 

I drove Gabrielle to the doctor’s that afternoon not knowing what to expect. This day cements in my mind that we made the right choice in a pediatrician; he is the kindest pediatrician on the planet. He sat us down in the exam room and told us that Gabrielle tested positive on her newborn screening for something called MCAD. He talked with me for a very long time, and admitted he didn’t know a lot about the ins and outs of MCAD.  He explained some of the possible complications from MCAD including that it could be fatal.  However, he also was very positive, excited almost that the newborn screening had worked. He stressed at the time – over and over again – that we needed to feed her ever 2-3 hours.  This feeding schedule would keep her safe.  His office had set-up an appointment for us the following Monday at the Genetics Clinic at our local Children’s hospital. We left the doctor’s office with an order to get blood work done that evening and a prescription for Carnitor®.

Over the weekend, my husband and I talked a lot, and of course we cried. We pulled out a simple travel alarm clock, and I used that to remind me of Gabrielle’s feedings. I used this clock for a year, and then I threw it away. I never wanted to hear that beeping sound again!
On Monday, we went together to the Genetics Clinic. We met with a genetic counselor, a nurse dedicated to the practice, and two different Metabolic Geneticists. We were there for a couple of hours.

At the genetics appointment, the doctors, nurse and genetics counselor were all very kind, straight forward with information and also ‘oddly excited’ that newborn screening had identified the MCAD. My husband and I found it very strange at the time; now we fully understand why they were so excited. At some point, one of the doctors said something like, ‘…this is so wonderful to know about the MCAD now. Because unfortunately in crisis the kids can present in different ways….some even “present as dead”. ’    I wish he could have said it in a different way, but he was being his scientific, clinician self. Unfortunately, he was just being honest. Fortunately, we know about the MCAD, and we can do everything in our power to prevent/treat a crisis.

They explained to us the importance of feeding Gabrielle regularly and treating any illness aggressively. They explained about the importance of a D10 IV during fasting and that we should bring her to the ER if she won’t eat. They explained to us the importance of being decisive and pushy in the event we end up in the ER. We were to call them if the ER staff didn’t treat Gabrielle immediately; no waiting allowed. It helps that these doctors work on staff at hospital where the ER is located. The doctors told us they are on-call 24/7; never be afraid to call. They have proven this. I’ve called them at all different hours; they are on the phone in moments and are never bothered by our calls. It is wonderful knowing that they are readily available. It is great peace of mind.

My husband and I left that appointment exhausted and overwhelmed. The joy of our newborn’s arrival was now tainted with the news that she had a disorder that could kill her. Needless to say I cried a lot.  I cried nearly every night I had to wake up to that alarm and feed Gabrielle. I think I never overslept, because there was a lot of motivation to pop out of bed to get her fed on-time.
Gabrielle’s first year was tough only because of her feeding schedule. It was beyond exhausting; I don’t ever want to be that tired again. I was so tired that my legs hurt all the time. I could never think straight. She didn’t get sick, she didn’t have a crisis. We count ourselves very fortunate for that.  Newborn screening worked for her and probably saved her life.

At Gabrielle’s 2 month well visit, the pediatrician paraded Gabrielle and I around the office. The pediatrician wanted every staff member to meet her. He wanted them to know her name and to know the importance of newborn screening. He wanted them to understand the importance of reviewing every newborn screening the day it arrived at their office.    He wanted the ‘nurse triage’ staff to understand that when I call, that it really is important and that I am not being an ‘over-reactive parent.’ 

During Gabrielle’s life, one thing has been particularly difficult for me. I am not one to worry. I am not concerned about minor illnesses. I don’t run my kids to the doctor because they have the sniffles or a cough. My 6-year-old daughter, Zoe, has only been to the doctor 4 times in her life for illness. Zoe doesn’t get sick often and I have to remind myself that for her, it’s ok to take a wait and see approach to illnesses. My mindset for Gabrielle has to be very different. I’m always thinking, “Take me seriously. Know that I am not over-reacting.”    

We didn’t change our lives much because of Gabrielle’s MCAD. When you have a newborn and a 3 year old at home and you’re a stay at home mom, it’s not like you’re out and about all the time. The only thing we did differently, and I would do it again in a heartbeat, is that we didn’t send Gabrielle’s sister, Zoe, to preschool at age 3. We decided that preschool for Zoe could wait another year. Some people criticized and others understood. It was one of my first lessons in standing up for our family’s approach to life. I don’t like having to remind people about Gabrielle’s MCAD to justify our actions in their minds.

Gabrielle’s life so far has been excellent.  She is a real character.  She is a happy, curious, mischievous little girl. She’s reached every milestone on-time. She learned to ride her tricycle last summer. She’ll climb anything she can. She can run and jump with the best of them.  She is active and always wants to be active.

I expect challenges ahead with Gabrielle. But I’m no longer waiting for the other shoe to drop. I’m not worried about a crisis; if it happens we’ll do what’s necessary. We are forever grateful that Expanded Newborn Screening worked in our case.    

Laura and Tony
Parents to Gabrielle, 3 (MCAD) and Zoe, 6
Ohio

Diagnostic Labs that perform Supplemental and/or Comprehensive Newborn Screening (for individuals, hospital systems, and states/countries):

Mayo Medical Laboratories (Rochester, MN)
Mayo Clinic Biochemical Genetics Laboratory

Phone: (800) 533-1710 for NBS testing, Diagnostic testing, Consultation, Post-mortem testing
Fax: (507) 284-1759
Co-Directors:

Dimitar Gavrilov, MD, PhD, FACMG gavrilov.dimitar@mayo.edu

Dietrich Matern, MD, FACMG matern@mayo.edu 
Devin Oglesbee, PhD, FACMG oglesbee.devin@mayo.edu

Kimiyo Raymond, MD raymond.kimiyo@mayo.edu

Piero Rinaldo, MD, PhD, FACMG rinaldo@mayo.edu

Silvia Tortorelli, MD, PhD, FACMG tortorelli.silvia@mayo.edu

Lab Website: http://www.mayoclinic.org/laboratorygenetics-rst/biochemical.html

NBS Website: http://www.mayomedicallaboratories.com/articles/

newborn/index.html

Please note that approximately 35 disorders of fatty acid,

amino acid, and organic acid metabolism are included in the Supplemental Newborn Screen (SNS). Your physician, hospital, or hospital laboratory must arrange for SNS testing, including

requesting screening cards and submitting samples to Mayo.

Mayo is unable to accept specimens directly from patients or families. Mayo works directly with health care providers and laboratories who may contact Mayo to arrange for SNS testing for their patients by calling 1-800-533-1710.

Metabolism Clinic Appointments for patients who wish to be seen in consultation at Mayo Clinic

Dimitar Gavrilov, MD, PhD, FACMG

Appointments: (507) 284-8198

Fax: 507-284-1067

[Please note: Self-referrals are accepted at Mayo, however, we cannot make specific clinical recommendations prior to evaluating you or your child. It is very helpful to have your primary physician contact us and send a referral summary and relevant laboratory reports. With this information, we may be able to provide your physician with some guidance if necessary prior to your evaluation.]

Institute of Metabolic Disease (Dallas, TX)
Phone: (800) 4-BAYLOR for Supplemental NBS testing
Phone: (214) 820-4533 for Diagnostic testing if child or adult is symptomatic

Post-mortem testing - call for information

**No Clinical treatment available at the Institute - Dr Roe has retired from the Institute and they no longer do any FOD clinical treatment.
Fax: (214) 820-4853
Larry Sweetman, PhD, Mass Spec Lab Director
Email: larrys@baylorhealth.edu

Xiaowei Fu, MD, PhD, Assistant Lab Director

Email: xiaoweif@baylorhealth.edu

Raphael Schiffmann, MD, Medical Director

Websites:

Clinical tests
http://www.baylorhealth.edu/imd/Default.htm

University of Colorado Expanded Newborn Screening Program (Aurora, CO)
The Expanded Newborn Screening Program - parents can have their babies screened for 20+ additional disorders at the Biochemical Genetics Laboratory University of Colorado Health Sciences Center
Phone: (303)724-3826

Website: http://www.uchsc.edu/newbornscreening/index.htm

2M Associates, Inc.
2M Associates, Inc. is associated with The University of Colorado Health Sciences Center, Denver (see above), and provides expanded newborn screening in the US, India, and the United Arab Emirates and a number of other countries.  All samples are processed in US laboratories.
Phone: (440)498-7484

Website: http://newborn.2ma.com/

Newborn Screening Center (India) -

Tel No +912512802975

Email : rkulkarni@2ma.com

Email: newborn@2ma.com

NeoGen Labs - India

Director: Rohit Cariappa, PhD, DABCC

Email: rohit@neogenlabs.com

NeoGen Labs utilizes Tandem Mass Spectrometry (MS/MS) and Biochemical Assays to offer the First Step Newborn Screening Test for babies in India. NeoGen Labs screens for over 45 metabolic disorders (including FOD). The laboratory is situated in Bangalore, India, and processes samples from hospitals, doctors and parents all over India. Confirmatory testing is carried out with partner labs located in India and the US. The lab is currently contracted by the state of Goa, India, to provide NBS services to all babies born in government healthcare facilities in the state. This is the first (and only) comprehensive newborn screening initiative in South Asia.

Phone: +91 80 2580 5600

Fax: +91 80 2580 5603

Website: http://www.neogenlabs.com/nbs.shtml

Panel of tests performed

Email: info@neogenlabs.com