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I had the privilege to speak at the Pennsylvania State Capitol this morning as part of a Newborn Screening Awareness event. You can see the video here or read the text below.
When my husband and I decided to start a family, we imagined a life of laughter, joy, fun, and growth. We talked about our dreams for our children, and when our firstborn, Victoria, entered our lives on July 30, 2014 we were elated. We couldn’t wait to watch her grow up and see the person she’d become.
Unfortunately, that’s not the way our story has gone.
I vaguely remember the nurse coming in to do Tori’s newborn screening test, but after you give birth you are tired, overwhelmed, and likely not listening closely to what is being said to you. I didn’t know what NBS was, and I know I’m not the only new mother who didn’t. All babies born in the U.S. are screened between 24-48 hours after birth by a simple heel prick test. The blood is put onto filter paper that is then sent to a lab where it is tested for diseases that are serious but treatable if caught early. I didn’t know any of that then.
We also didn’t know that while we were experiencing the joy of newborn life, another family from the Philadelphia area was fighting to get a bill passed in honor of their daughter, Hannah, who had Krabbe Leukodystrophy. They succeeded in October 2014 and Hannah’s Law was signed by the governor. This would come to be significant in our lives very soon.
Two weeks after Tori was born, I remember saying to my husband that everything must be okay because we didn’t hear anything from whatever that test was. Oh, how I wish we’d been right.
When Tori was five months old, it was like a switch flipped. She became a completely different baby. It was obvious that she was in extreme pain, and she regressed in many milestones. She stopped playing, laughing, smiling, and so much more. That was the beginning of our diagnostic journey that led to devastating news.
At 6.5 months, after a misdiagnosis of reflux, a CT scan, an MRI, a feeding tube, five days at Hershey Medical Center, and genetic testing for all three of us, Tori was diagnosed with Early Infantile Krabbe Leukodystrophy, a fatal condition that affects the brain and nervous system. A condition that means death before the age of two. Friday, February 13, 2015 changed our lives forever.
Like most people, we had no idea that we were both carriers of anything, and we never expected to lose a child to something like this. It’s not supposed to be this way. I cannot adequately describe the desperate hopelessness we felt knowing that our daughter was dying and that there was nothing we could do to save her life. Nothing. I remember being in utter disbelief that my world was being shattered into a million pieces. I remember pleading with God to intervene, to save our precious baby’s life. We live in a world where there’s almost always something that can be done to fix a problem, but not this time. It was hopeless.
So you can imagine how we felt when we soon discovered that if she had been screened for Krabbe at birth we could have treated it! We were robbed of the opportunity to try to save our daughter’s life because she wasn’t screened for it at birth. Had we lived in New York, a few hours north, she would have been screened for Krabbe, and our story would be very different.
Our experience led us to begin learning more about NBS and we were surprised by what we learned. There are many diseases (as many as 80) that are treatable – or even curable – if caught at birth, and no state is screening for all of them. Pennsylvania is ranked 37th when compared to the other 49 states for number of diseases screened. Every state screens for a different number of diseases: PA currently screens for 37 – Tennessee, ranked #1 of all the states, screens for 70! To learn more about NBS state to state, visit babysfirsttest.org.
Every state could improve their NBS system, for sure, but we decided to start working for change right here in Pennsylvania first. Three weeks after Tori went to Heaven, I attended my first meeting of the Newborn Screening Technical Advisory Board and have continued to do so for the past 3.5 years.
I learned a great deal about how PA operates through these meetings, and I came to appreciate the panel and their purpose; but I also saw that the situation here was worse than I knew previously: It’s not only a problem that our state doesn’t include as many diseases as other states, but it’s also a problem that screening isn’t currently equal from hospital to hospital in Pennsylvania. Surprised? I certainly was.
Currently there are two panels of diseases on Pennsylvania’s NBS – a mandatory panel of 10 diseases, and a supplemental panel of 27. All PA hospitals screen for the mandatory diseases, but not all of them screen for everything on the supplemental panel. In essence, your zip code determines your life or death if you are born with one of these diseases on the supplemental panel. To quote U2, “Where you live should not decide whether you live or whether you die.”
Over the years our fight has become about so much more than Krabbe being one of the mandatory screenings in PA – it has become about making the program better and more equal as a whole. As you can see, NBS is in desperate need of reform, and House Bill 730 (numbered for our daughter’s birthday) will accomplish all of this.
This bill will simplify the currently overcomplicated NBS system in Pennsylvania and make it so that every baby born here is screened equally. HB730 will also pave the way for additional diseases to be added to the screenings as treatments or cures are discovered. It will also institute a NBS fee – something that 47 other states already have – which will save the taxpayers money. It’s a win-win and will make Pennsylvania a better place. Most importantly, it will save lives.
Later this morning you will hear an incredible success story from my friend, Ashley. I love her story, I love how her family has triumphed because of NBS. But I also hope that, soon, all mothers with babies who are born with rare, fatal diseases can have the same hope and success she has experienced.
Our daughter, Victoria, would be five years old now. She would be learning new things, preparing for school, and living a normal life. However, Tori passed away at twenty months of age because she wasn’t screened for Krabbe at birth. Tori was born just a few months before Hannah’s law was passed; that was five years ago, her law has still not been fully implemented, and Krabbe is still not part of the mandatory screening here in Pennsylvania. If HB730 is passed, every baby born in PA will be screened for Krabbe, and Hannah’s law will finally be implemented.
Please contact your state representative/senator today and request that they support HB 730. If you are an elected official here today, please support HB 730!
Newborn Screening didn’t save my child, but it could save yours.
Because Krabbe is an autosomal recessive mutation, the chances per pregnancy are 25% that the child will be affected, 50% that they will be a carrier, and 25% that they will be unaffected. That may seem like a low chance that a couple would have an affected child, but Dr. Escolar told us that she often sees repeats in families.
On diagnosis day we were told two things in the same minute: Tori had Krabbe and was dying, and that we shouldn’t have more children. We were devastated.
Thankfully, we found out about IVF as an option to have healthy children and our twins are not even carriers of Krabbe. ❤
There is HOPE for families like us to have more children, whether through IVF, adoption, or foster care. Krabbe doesn’t have to mean the end of your dream of having a family.
I often see moms post about how sad they are that their babies are not newborns and tiny anymore, or sad that another year has gone by, and perhaps I could have related to that feeling a few years ago.
But, I just can’t relate to it now. I realize that my perspective is different than most, which is why I feel like I need to share it, especially this month.
I’m not sad that our boys are bigger, or that they are continually learning and doing new things. I doubt that I will ever look back with tears and want to go back to those newborn days.
I’m thrilled and delighted that they are ABLE to get bigger. That they are ABLE to grow and learn. Why am I delighted?
Because Tori wasn’t given that opportunity. Because Krabbe robbed her, and us, of a normal childhood. She stayed little, like a newborn, for her entire existence. She never learned to talk, walk, laugh, play.
We would do anything, anything, to have her here today, in full five-year-old glory.
And it is with that perspective and passion that I write, parent, and live.
I am truly overwhelmed with gratitude, amazement, and joy with every new milestone reached, and I don’t look back at their newborn pictures with sadness (disbelief that they were ever that small, amazement at how far they’ve come, but not sadness). Part of that is because newborn twins are seriously challenging and I don’t want to go back to that phase, but it’s mostly because of Tori, our precious baby girl who was taken from us too soon. I LOVE watching them learn and grow as healthy little men.
What makes me sad is that there are babies born each year with a treatable condition but that their ZIP code determines whether they have a chance to live or not.
What makes me sad is that families like ours, families with so much love for their children, have to say “see you later” to their child and be separated from them until we get to Heaven.
I fight for Newborn Screening for Krabbe because I don’t want anyone else to go through what we’ve experienced. I want babies born with Krabbe to have the same opportunity for life as any healthy baby. I want their parents to be able to see their children achieve typical milestones. I want their children to grow up.
I know motherhood is challenging and it’s easy to be frustrated. I get it. I have my moments like anyone else. However, in those moments I remember that not every child gets to grow up, like my Tori, and I remind myself that I have so much for which to be thankful.
I pray that you can do the same. ❤