Krabbe Awareness Month: Day Five
I moved from CA to PA, married a Pennsylvanian – we both carry the same genetic mutation (30kb deletion). We were told that the odds of that happening were incredibly rare given the distance between us. We were clearly meant to be. ❤️
This fact is one of the major reasons why we firmly believe that Krabbe should be included on every Newborn Screening test. We had no idea that we carried this fatal mutation – no one does unless someone in their family has been affected or they’ve had genetic testing.
Oh, how we wish we’d known…
I’m Not Sad That My Boys Aren’t Little Anymore
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.
Isaiah
Caleb
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. ❤
Krabbe Awareness Month: Day Four
As Tori’s Krabbe progressed, we were amazed at the abilities she lost – such as sneezing.
Our nerves control everything in our body – even things we had never considered, like smiling.
Krabbe Awareness Month: Day Three
Krabbe is caused by a missing enzyme that the body requires. Amazing how one little thing can mean life or death. Our bodies are so intricate.
Krabbe Awareness Month: Day Two
Our daughter, Tori, was diagnosed with Krabbe at 6.5 months of age. We watched as she became merely a shell of who she had been and as she lost nearly every ability until she went to Heaven at 20 months of age.
It didn’t have to be this way, as you will learn this month.
Newborn Screening Awareness Month
(Hover over – or tap on – each state to see how many diseases are included on their NBS tests)
September is Newborn Screening Awareness month so we will be providing information throughout the month about Newborn Screening (NBS).
Here’s a brief introduction:
Newborn Screening is a crucial component of ensuring the health of all newborns, yet many parents have no idea what is being done when the test happens.
Newborn Screening (NBS) happens between 24-48 hours of birth and it involves the pricking of the baby’s heel in order to apply blood to special paper (filter paper). The blood is used to test for treatable conditions – conditions for which timing is everything.
Did you know that each state screens for a different number of diseases?
I created the interactive map above to visually demonstrate the discrepancy from state to state, or you can see the chart below. I obtained all of this data from babysfirsttest.org on August 31, 2019.
| State Name | Number of Diseases Screened |
| Alabama | 46 |
| Alaska | 53 |
| Arizona | 31 |
| Arkansas | 32 |
| California | 63 |
| Colorado | 44 |
| Connecticut | 65 |
| Delaware | 52 |
| District of Columbia | 62 |
| Florida | 55 |
| Georgia | 32 |
| Hawaii | 49 |
| Idaho | 48 |
| Illinois | 64 |
| Indiana | 49 |
| Iowa | 53 |
| Kansas | 31 |
| Kentucky | 58 |
| Louisiana | 34 |
| Maine | 55 |
| Maryland | 61 |
| Massachusetts | 66 |
| Michigan | 59 |
| Minnesota | 61 |
| Mississippi | 61 |
| Missouri | 60 |
| Montana | 32 |
| Nebraska | 37 |
| Nevada | 57 |
| New Hampshire | 39 |
| New Jersey | 57 |
| New Mexico | 49 |
| New York | 60 |
| North Carolina | 37 |
| North Dakota | 52 |
| Ohio | 46 |
| Oklahoma | 54 |
| Oregon | 53 |
| Pennsylvania | 38 |
| Rhode Island | 34 |
| South Carolina | 55 |
| South Dakota | 50 |
| Tennessee | 70 |
| Texas | 55 |
| Utah | 52 |
| Vermont | 35 |
| Virginia | 33 |
| Washington | 34 |
| West Virginia | 38 |
| Wisconsin | 47 |
| Wyoming | 52 |
According to BabysFirstTest.org there are 80 treatable conditions that could be screened for at birth, but no state screens for all 80. Visit their site to learn more about what diseases are included on your state’s NBS.
This means that your ZIP code determines life or death if you are born with one of these screenable/treatable diseases.
Where you live should not decide whether you live or whether you die. – U2
There is a national panel called the Recommended Uniform Screening Panel, or the RUSP, and there are currently 35 diseases on the RUSP. Many states screen for all of these diseases but not all.
As you can see, there’s a lot of work to be done in the realm of Newborn Screening to ensure that every child is screened equally for all diseases, including Krabbe. One thing you can do is contact your legislators to ask them to take NBS seriously and work on increasing your state’s screening panel.
Comment below with any questions, comments, etc. Do you remember when your child was screened? Did you know what was happening?
September is Krabbe Awareness Month
Each day in the month of September you will be seeing a new image with facts about Krabbe/Leukodystrophies as we do our part to increase awareness about these diseases.
Please share these posts/images on social media using the hashtag #MakeKrabbeKnown
September is also Newborn Screening Awareness Month, so we will be posting about that as well.
Feel free to ask any questions you have! We’d be happy to answer.
So much gratitude to our friend Mike of ArtisticDork.com for making these images and for being willing to make updates and changes for years now. If you are in need of graphic design work, please check out his website!
Let’s #MakeKrabbeKnown because #WhiteMatterMatters ❤
We Have Time
Our boys are sixteen months old now. They walk everywhere, they love being outside, and they love experiencing new things.
Most of the time I feel as though we have struck a great balance between being home and going out to do things, but some days I feel this pressure to do everything. If I find out we have to miss some event or function, I feel like they are missing out. I feel pressure.
This isn’t a pressure induced by social media, however. Yesterday I realized that it’s because all I’ve ever known as a parent is limited time. A deadline. A looming end point and the danger of permanent regret.
With Tori, we had less than two years to try to give her all the experiences we could manage. Krabbe robbed us of time. Krabbe made us feel rushed. We did things she was far too young to appreciate because there was pressure. We didn’t have time to waste. We didn’t want to have any regrets for her, or for us as a family. And, thankfully, we don’t.
Yet, I have to stop and remember that, Lord willing, we have time with the twins. We don’t have to do everything right now, and we don’t have to be disappointed if we don’t take them everywhere to do it all at this age. They don’t know what they’re missing, and if they are happy, that is all that matters. We have the freedom to wait until they can better appreciate whatever it is we want them to see/experience.
I’m praying that my heart can rest in that hopeful knowledge, that I can be better at just taking one day at a time, one moment at a time, and providing the boys with a well-balanced life. Rest is equally as important as stimulation and experiences, and I pray that we as parents will have the wisdom to do what is best.
I’m so thankful for this gift of time.
Even So, Joy 