NBS Advisory Board Meeting, August 23, 2016

Today I attended the quarterly meeting of the Newborn Screening Advisory Panel of Pennsylvania as I did in April and will continue to do until Krabbe is on the mandatory screening panel (and maybe even after that, but we’ll see).

You can read about the April meeting – and some background about the purpose of the Advisory Panel – here.

You can read about the meeting with the Physician General in June here.

This meeting was uneventful compared to April and Krabbe wasn’t even on the agenda for discussion. Dr. Levine, the Physician General of Pennsylvania, was in attendance for the beginning of the meeting and her presence seems to have had an effect on the panel given the tone of the discussion.🙂

Positives:

  • Testing for X-ALD will begin on April 1, 2017 and testing for MPS-I will begin on January 1, 2017. Both of these are lysosomal storage disorders (LSDs) just like Krabbe. There are funding issues being worked out at the moment, but the panel is hopeful that these implementation dates will remain in place.
  • Testing for Pompe has been in place for six months; they have already identified eight positive cases.
  • The panel will be submitting a “Program Revision Request” to fund these two new tests AND will include the future of NBS in the proposal as more diseases (Krabbe?!) will be added in the future.
  • The Department of Health has created a new brochure about Newborn Screening to better educate new moms and dads about what is available in Pennsylvania and how it works. It will be visible on their website in a couple of weeks.
  • The panel is hoping to merge the two panel system that currently exists in Pennsylvania, which would make ALL of the testing mandatory and not optional for each hospital (meaning that all babies would finally be screened equally and your zip code won’t determine life or death!). Currently, only seven diseases are mandated in Pennsylvania; the rest, including Krabbe, are on a “follow-up” panel and each hospital chooses which diseases from that list will be included on their screenings. Ridiculous, I know. Thankfully, they all see that it’s ridiculous, as well.

Since Krabbe wasn’t mentioned in the first half, I made a point to talk to a few specific people during lunch to find out what I wanted to know:

  • According to PerkinElmer – the lab through which all of the testing is done – Hershey Medical Center is STILL the only hospital in the entire state testing every baby for Krabbe and for the other five lysosomal storage disorders (LSDs) in Hannah’s Law (Act 148 of 2014).
  • I verified YET AGAIN that if a mother asks for her child to be screened for Krabbe in a Pennsylvania hospital (or birthing center), the hospital has to do it.
  • PerkinElmer said that only a handful of requests for Krabbe testing have come through, which shows a great need for education until the testing is mandatory.

During the “public comment” section at the end of the meeting, I was able to address the issue of hospitals telling their patients that their babies were being screened for Krabbe automatically, and the panel was genuinely alarmed that this is happening. This launched a discussion about how they can improve the communication and education because it’s a serious problem and is also opening up hospitals (and the state) to law suits.

ONLY Penn State Hershey Medical Center is automatically testing for Krabbe in Pennsylvania, BUT, if you ask your hospital then they have to screen your newborn for Krabbe. Ask to speak to the Newborn Screening Coordinator at the hospital as they should be aware of this. If not, make them aware😉

We found out that they are going to give the new brochure about NBS to the moms after birth along with everything else they give them, and Ashley (from Rep. Cruz’s office) and I both remarked that there has to be a better time, perhaps during prenatal appointments? Neither of us remember much of anything after our babies were born. That is NOT the time to give the mom a stack of papers, with this brochure included, and expect them to read and make these important screening decisions! The men agreed after we brought it up🙂

In regards to Krabbe specifically: I asked Dr. Vockley if the conversation he had with Dr. Kurtzberg in July had affected anything (they spoke about her research and she schooled him, basically); he stated that until something is published, nothing will change. We know that Dr. Kurtzberg has submitted data for publishing, so now we just wait. Once that data comes out, it sounds like having Krabbe moved to the Mandatory Panel could happen quickly. Maybe.

Afterward, Rep. Cruz’s staff (Ashley and Rachel) and I spoke with Dr. Vockley for quite a while regarding Krabbe and Newborn Screening, and, overall, he was FAR more positive (and respectful) this time than he was three months ago. I believe that his conversation with Dr. Kurtzberg has shown him that there is MERIT in screening for Krabbe at birth; that the transplants are successful; that it’s WORTH IT.

He mentioned again the lack of data about the success of NBS and transplants for Krabbe; so, I pointed out to him that since only FOUR states are screening, it’s no wonder that we have no data! If you aren’t screening at birth, you aren’t catching it early enough to transplant, therefore, no data. He surprisingly agreed with me. I then added that, since Pennsylvania has such a high rate of leukodystrophies, WE could be the state providing that data and making headway in research. And he agreed with me there, too!

In summary, there have been no changes, no possible implementation dates, BUT, overall the attitude toward NBS screening HAS seemingly changed, and we feel hopeful that it won’t be long before every single baby in Pennsylvania is given a chance at life because of NBS.

If you read all of this, thank you.🙂 Please spread the word to other Pennsylvanians so that every new mom is aware of the options for Newborn Screening! No matter what state you live in, you can write letters to your legislators HERE and let them know that this is important to you!

September is Krabbe/Leukodystrophy Awareness Month AND Newborn Screening Awareness Month. Let’s do our part to educate!

 

So, I Got a Job…

As I mentioned before, I recently accepted a part-time position at The Hotel Hershey – more specifically, at The Spa at The Hotel Hershey (where Brennan has worked for 13.5 years and counting). This all came about rather quickly, so I’m still getting used to the idea of working outside of the home, but I know that it will be good for many reasons.

This was my idea. Even on Easter, just hours after Tori went to Heaven, I asked Brennan what I was supposed to do now that she is gone. My “job” as a mom was suddenly null and void, and I was completely unsure of what I should be doing.

Two years ago I left my job (that I loved) to become a stay-at-home mother; I ended up loving my new life more than I had ever imagined. I was so thrilled that I may never have to have a “real job” outside of the home again. I had finally found what I was meant to do.

And then, Krabbe.

Krabbe is the proverbial gift that keeps on giving, but in a negative way. I suppose that makes it the gift that keeps on taking.

It took Tori. It is making future children merely a dream. And it took my beloved job from me.

With Tori gone and no more children in our immediate future (yet), I just don’t feel as though I can justify not having a job anymore. I want to help with our finances during this period of waiting to ease the burden from Brennan (even though he has never complained).

I didn’t take the job because I am bored – I’m so far from being bored! I have many things on my plate that require time, but none of them bring money along with them (yet), unfortunately. My book is essentially done, and the book proposal is in process, so maybe that will eventually bring in some extra income, but it’s not a guarantee at all.

This summer was amazing and it was just what I needed: doing photography for CRC, writing/editing for The Transcend Project as well as my own blog and manuscript, serving at Transcend Church, traveling and seeing family, lobbying for Newborn Screening in Pennsylvania occasionally (and next week), and many other things. Doing these things gave me an outlet for my creativity, filling my heart with joy as I was able to serve once again in these capacities. I was able to take some time to do what makes me happy, and I am so thankful for that. All of these things will still happen, of course, even though I have a job – that’s why I only accepted a part-time position😉

More than anything, though, what my heart longs for is to be a mother again. That’s all. The very thing that so many women take for granted is the thing I want most of all, and it’s so risky (to try naturally) and expensive (IVF or adoption) for us because of our genetics.

So, while we wait on the Lord and trust His timing and guidance, I decided that it wouldn’t hurt to get a fun part-time job (2-3 days a week with the option to take on extra shifts) at a place that feels like home with people who have been so supportive of us through everything. And God made all of that happen. 

Trust in the Lord with all your heart;
    do not depend on your own understanding.
 Seek his will in all you do,
    and he will show you which path to take. – Proverbs 3:5-6 NLT

If nothing else, this will get me out of the house, allow me to meet interesting people, and provide new topics for my writing😉 I’m sure that my encounters with guests will be interesting!

In all things, we continue to trust God fully, knowing without a doubt that whatever He has in store for us is amazing.❤

Sacrificing the Good for the Great

I knew this would happen.

We bought our first home in December 2012 as an investment, knowing that we would fix it up and then sell it and pay off our $50,000 in student loans with the profit.

I did well for the first year or so with not being attached to it. I remembered that it was only a temporary home and that helped me not be attached emotionally.

But, somewhere along the line, it happened. I became attached.

Now that we are so very close to listing our home, I am finding myself feeling sad because I don’t want to leave it. It’s the perfect little home and we (with the amazing help of our friends and family) have made it look so great! We have had so many memories there. It was our first home together. I have lived here longer than I’ve lived anywhere since I left my parents’ home. It’s where we lived with Tori. And it’s where we said goodbye.

My mind loves to wander and reminisce, and I try to find ways out of selling it. But, I have to stop and remind myself that we are sacrificing the good for the great.

Our home is good. 

Being debt-free is going to be great. 

I can’t even imagine how amazing it will feel to have $500 extra in our savings account each month instead of it going to student loans. We made a wise investment in this home and we are so close to seeing it pay off. And that feels so good, but that doesn’t mean it will be easy.

I remind myself that we can always find another home to make our own. Once we are debt-free we can more easily live the life we want to live.

Sometimes we have to sacrifice what’s good in life for what’s great, and it is always worth it, even though it’s difficult. Now if I can just convince myself…

(As a side note, if you’re looking for a beautiful 1,800 sq. ft home in the Colonial Park/Lower Paxton area, let us know!)

Here are a few pictures of the remodeling we’ve done to our home:

Busy Summer and a Much Needed Update

I haven’t blogged much this summer and that has partially been intentional, partially not. Brennan and I have been traveling, working many weekends at MHS, spending time with family and friends, helping with church activities, doing photography for an amazing camp, hosting many RYFO bands, and so much more. We’ve been enjoying life and, though busy, it has been restful and refreshing.

We’re overdue for an update, so here’s what we’ve been up to:

Writing: It has felt good to not pressure myself to write, but to only do so when inspired. I have been writing for a new site that launched in July, as well. Check out The Transcend Project for some great articles about life as a Christian and life in Harrisburg, PA from several different authors. I’ve also been working on my book and the manuscript is almost completed. I have likely found an agent, my book proposal is in process, and we’re still hoping to start pitching the book by October.

The House: Our kitchen is finished and it is stunningly beautiful. We are hoping to list the house by the end of August, which means a lot of work needs to be done in order to be ready for showings (i.e. I need to put my stuff away😉 ).

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(For those who aren’t aware, we bought our home 3.5 years ago with the intent to flip it and sell it; it was bank-owned so we paid far less for it than it is worth. If we sell the house, we can pay off our student loans – $50,000 – and be debt free. Even though we love our home, we will love being debt free even more, and it will allow us to live life so much more freely than we currently can.)

If you’re looking to buy a home in the Colonial Park/Lower Paxton area, we know of a great one that will soon be for sale!😉

Children: We so desperately want to be parents again, but there are serious genetic risks if we conceive naturally (Krabbe may be a recessive gene, but it is aggressive and it’s very likely that we’d have another baby with Krabbe). We have some options, but they are all incredibly expensive and we simply can’t afford them at the moment. We’ve had some setbacks in that area and it has been incredibly disappointing. BUT, God is sovereign and we continue to follow Him and trust His timing.

Tori’s headstone was placed around her birthday and it is beautiful:

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Her tree was also planted at The Hershey Gardens:
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Work: As if I need anything else on our plate, after consideration and prayer, I decided that it would be wise to get a part time job since we don’t know when (or if) we will be having more children. I accepted a position today at The Hotel Hershey and will start at the end of August. It will only be 2-3 days per week with the option to pick up additional hours to assist my co-workers, which will still allow me the flexibility I need to continue to write, lobby, do photography, and serve the community with our church.

Newborn Screening: There is another Advisory Panel meeting in two weeks and I will be attending. I will give a full update just like last time.

Brennan is running in the Hershey Half Marathon in October with many other people from our church. He wanted to run the race in Tori’s honor and he is working hard to make this happen. Please pray for his training, that he would build the required endurance and that he would finish the race well.

Please continue to pray for Brennan and I for these things – especially the book (for favor from the publishers), the house (that it sells quickly and for the amount needed to pay off our student loans), and future children (that we can have them).

We are doing well, continuing to praise the Lord for the gift that Tori was, and learning to live life without her by our side. God is good, God is faithful, and God is sovereign.

Will They Wonder?

As we walked through the Hershey Gardens today after locating the tree placed there in Tori’s memory, I noticed all of the bricks and sculptures that had been placed in remembrance of a loved one throughout the gardens. 

I tried to read as many as I could as I was – for the first time ever – filled with a curiosity about the stories those bricks and sculptures represented.

Who were those people? What kind of a legacy did they leave? Did they live a long life? Were they loved and appreciated?

For the first time, I wondered about Tori’s tree and whether or not people will actually read the sign, and if they do, will they wonder about her? Will they perhaps Google her name to find out why such a young life is being memorialized in such fashion?

When people see her tree, will they wonder about her story, or will they just overlook it and walk on by?

Because she was so very important to us, it’s hard to think about people disregarding her tree and not wondering who she was. But, I was reminded today that I do it all the time to others. 

People have their loved ones’ names put onto bricks and other memorials so that they might be remembered and not forgotten, and we walk right by (or over in the case of the bricks), not even giving them a second glance.

While I cannot force people to read her name and wonder about our precious girl, I can make sure from now on to read such memorials and think about what they represent, knowing that the person must have been beloved for someone to have placed something like that in their memory. I can pray for those left behind – pray that they learn to love Jesus, love others, and leave a legacy that changes their family for the better.

Life is so very short, so let’s continue to love well and remember those who have gone on before us, however we choose to do so. 

What Might Have Been

I try not to think about what might have been, cause that was then…

We can’t go back again, there’s no use giving in, and there’s no way to know what might have been.

– Little Texas

It’s so easy to let our minds run away from us and to ponder what might have been instead of what actually is. 

If we aren’t careful, we can make ourselves incredibly sad on days like today – when our Tori would have turned two – instead of celebrating instead that she is healed and with Jesus. 

We could focus on all that she might be doing as a two year old here on earth, or we can imagine her healed, whole, healthy body running around in Heaven where we will see her again (soon, but not quite yet, as Jim Kelly said yesterday).

Brennan and I have learned that you must take control of your thoughts in times like this – not that you can’t grieve, of course, but to not force yourself into sadness simply because you are wondering about what may have been. It doesn’t change anything, it doesn’t benefit you in any way, and it doesn’t bring joy. In fact, it steals joy. 


It’s a choice, just as joy is. You can choose to have a great day or a miserable day based on how you control your thoughts.

So, today, on Tori’s birthday, we are remembering the great times we had with her. We are thinking about what actually happened instead of what could have happened if she had been healthy. 

And our joy is REAL. It is genuine. It is God-given.

We take such joy in knowing that she is running around with Jesus. She breathes normally, her nerves don’t cause pain, and her body is whole. And that is the best possible gift we could receive today ❤️

Thank you, Jesus, for Your peace and joy, and thank you for making us Tori’s parents.

Hunter’s Hope Symposium: Thursday 

Today we heard reports on the Leukodystrophy Care Network that Hunter’s Hope is working hard to implement around the country. They are the voice of the family in ensuring excellent care and treatment for their child.

You can read more about the LCN here.

Leukodystrophy children have unique medical needs and issues and most hospitals have had little to no experience with these diseases.

The centers are going to be as geographically spread out as possible so that traveling can be reduced for as many families as possible. Currently, most affected families go to Pittsburgh or Raleigh. Once the LCN is established, there will be many more options.

Many times, doctors see kids like these and don’t bother to treat them because they are terminally ill. One of the questions asked of the potential of LCN center is this: 

‘Are you treating this child as though they are living? Or are you saying “go home, there’s no treatment?”‘

Children’s Hospital of Philadelphia became the first Leukodystrophy Center of Excellence and it was interesting to hear their presentation given that they are so close to where we live.

I loved this quote:

Dr. JoAnne Kurtzberg from Duke University spoke and gave great insight into what they have done in the world of leukodystrophies.

As always, Victor was very attentive 😄

Later, we heard reports on the current research findings – which are so promising! – and heard more about the results of the ten years of screening for Krabbe in New York State. 

They are also very close to improving the NBS test for Krabbe by looking for two specific biomarkers instead of just one. 

Exciting things are happening in the quest to find a cure for Krabbe and other leukodystrophies, and the future is bright. 

Overall, we feel encouraged by what we heard today and are so glad to be here.