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!

 

Mother’s Day Surprise

While my dad was still in Pennsylvania with us, I came up with a plan to fly to California for a week over Mother’s Day weekend as a surprise for my mom and grandmothers (and everyone else). Brennan and I had enough miles through United to make the trip practically free and I had the availability, so we booked the trip!

Tuesday morning, bright and early, I boarded a plane in Harrisburg and arrived in San Francisco an hour early (the pilot had a lead foot 😉 ). That was even after Air Traffic Control told them to slow their approach. 🙂

Here are a few photos of the scenery we saw as we flew across the country:

My dad picked me up and we headed north to Red Bluff (a little over three hours).

My mom, a Customer Service Manager at Walmart, was still at work when we arrived. Because I hadn’t yet seen the brand new store that opened the week after Tori went to Heaven, we decided to go to the store to surprise her.

We had hoped to find her rather than have her see us.

Well, the reveal didn’t go exactly as planned because she found my dad first (I was in an aisle shopping) and saw my purse – exactly like hers – in the cart. She asked my dad why he had her purse and he had no answer! 🙂 I came around the corner and saw her there and she was shocked. Needless to say, she had no idea that I was coming.

I’ve been able to spend time with family and a couple of friends thus far, and we have meetings with the staff of my parents’ legislators to discuss Newborn Screening for Krabbe. California has seen legislation for this in the past (as recent as 2012) but has never added Krabbe to their panel. We’re seeking to change that.

It is going to be a great week at “home” and I’m so glad we were able to make this happen.

 

NBS Advisory Board Meeting, April 19, 2016

Yesterday, I (Lesa) had the opportunity to attend the quarterly meeting of Pennsylvania’s Newborn Screening (NBS) Advisory Board. These meetings are open to the public but members of the public apparently rarely attend, as was evidenced by comments made and by the fact that so many came to introduce themselves to us.

This committee was formed to advise the Secretary of Health regarding advancements in NBS and to recommend certain diseases to be added to the mandatory NBS panel. However, they have gained a lot of power and they essentially are the final say now. The Secretary of Health has told them that she will pretty much do whatever they say.

You can see a list of the members here along with their credentials.

It was an informative meeting on many levels, but here are some bullet points of what I feel are the most important points:

  • Dr. Vockley – the chair of the committee – clearly doesn’t think that Krabbe should be part of the NBS program. He made that very obvious in his statements.
  • Penn State Hershey Medical Center is THE ONLY hospital in Pennsylvania screening for all of the diseases in Hannah’s Law (Act 148). They began screening on March 8, 2016. Despite the fact that hospitals are telling parents that they are screening for Krabbe, the Department of Health AND the lab that processes the NBS panels confirmed that only Hershey Medical Center is testing.
  • Dr. Vockley said that he “doesn’t understand” why Hershey is testing for these diseases and wants to know their thought process. Yes, I was pretty upset to hear him say something like that.
    • He seems to be basing his entire opinion on NY’s results from the first five years of testing. One state. He kept going on and on about how “unsuccessful” treatment was, which is why I said what I did in my testimony.
  • The main hospitals in Philadelphia are looking to add the same five diseases from Act 148 to their panels.
  • Pennsylvania’s biggest issue is to resolve how these NBS panels are funded:
    • If the state mandates them (currently 6 diseases are mandated), the state must pay for them as the law is currently written.
    • If the state moves them to the “mandatory follow-up” or supplemental panel, the hospitals absorb the cost. This is why hospitals have the choice to screen or not screen for the 27 diseases on the “follow-up” panel, even though Dr. Vockley continually used the phrase “mandatory follow-up” when describing the panel.
    • They reported that it costs about $80 per baby to screen for all 31 (or so) diseases on both panels. Only $80!
      • Mandated six diseases = $23
      • Pompe (from Act 148) = $10
      • Additional $47 per child if all were mandatory
      • Our thought was that it should just be added to the hospital bill, or split cost with parents. What parent wouldn’t want to pay $80 more to have their children fully screened? Not all could afford it, but those who could would pay.
    • If insurance would help the hospitals with cost, hospitals would be more likely to screen for all.
    • However, it is difficult to mandate insurance coverage because most providers are not based in Pennsylvania. State can’t force them to pay.
    • Bottom line: new legislation needs to be written to change how PA funds these NBS panels because children aren’t being screened equally.
  • The committee admitted that they are not “on par with the rest of the country” with how we operate and fund our NBS program. It is currently a “public/private collaboration” instead of being purely a public health program.
  • Dr. Vockley continued to make comments about other diseases that would apply to Krabbe but he is still opposed to Krabbe being on the NBS panel:
    • “Why do we have to wait for a baby to die before we do something?”
    • “I’d be the last person to tell you that saving two babies out of two million is not valuable…”
  • The board did vote to recommend that ALD and MPS-1 be added to the mandatory panel. Next week the Secretary of Health will review the decision memo but there is no time-table for addition to the NBS panel.

After all of this discussion (and much more that wasn’t relevant to our cause), there was a time for public comments. You can hear my testimony here. It is about 5 minutes long.


After the meeting was adjourned, Dr. Vockley came up to me and thanked me for coming and then told me “I disagree with what you said…but we’re on the same page for NBS.” I smiled and held in what I really wanted to say. That he could look me in the eye after knowing who I was, and what we had just gone through, and tell me something like that was maddening.

The legislative staff from Rep. Cruz’s office were there with me and we all agreed that the main thing we learned is that there is a lot of conflicting information being given from the Department of Health about the NBS program in PA:

  • They said there are two panels (mandatory and mandatory follow-up) and kept saying that both are mandatory…yet they also said that the hospitals have the ability to choose whether or not to test for the “follow-up” panel. Are they truly mandatory, then?
  • The chair of the advisory panel says he is all about saving lives through NBS, but he is adamantly opposed to Krabbe and the other Lysosomal Storage Disorders being screened. His arguments FOR ALD and MPS-1 absolutely apply to Krabbe, same success rates and treatment, but he is opposed to NBS for Krabbe. It doesn’t make sense.

The next meeting is August 23, 2016. At that meeting, they hope to further resolve some of what was discussed yesterday, but I am not hopeful that much will change. The chair is very set in his ways and is unwilling to hear differing opinions about Krabbe. The other members seemed to be more agreeable to the screenings BUT they seem to be afraid to speak up because of Dr. Vockley’s intimidating personality.

After observing this advisory board in person, it is even more clear that Rep. Cruz’s legislation is necessary. Please check out our previous post about this and contact your PA representatives!

We will keep you posted as we learn more. Pennsylvania’s NBS program is broken and we won’t stop until it is fixed!

Call to Action in Pennsylvania

Today I (Lesa) had a meeting with the staff from Representative Angel Cruz’s office regarding the legislation they are preparing to introduce to reform the way Newborn Screening is done in Pennsylvania.

The meeting was productive and we are ready to see this legislation all the way to the governor’s desk so that lives of children will be saved in our state.

This legislation is vital because, without it, Hannah’s Law (Act 148 of 2014) will be rendered useless due to the way that Screenings are done and the way that the process works in Pennsylvania. This bill would limit the Department of Health’s ability to make changes to the mandatory Newborn Screening program, like they did with Hannah’s Law (chose only ONE of the six mandated diseases to add to the mandatory testing list).

You can read the co-sponsorship memo and the attached draft of the legislation here.

If you live in PA and would like to encourage your legislator to co-sponsor this legislation, you can go to this website to find your legislator.

Underneath the photo of your legislators you will find an email icon through which you can contact them.

Here is a sample letter I wrote that you can freely customize to fit your family:

Dear _______________,

I am writing in regards to upcoming legislation from Representative Angel Cruz regarding Newborn Screening in hopes that you might be willing to co-sponsor and support this important legislation.

The bill does not yet have a number but the co-sponsorship memo was dated March 21,2016.

The way that Newborn Screening is conducted in Pennsylvania must be reformed. We are currently last in the country (by a wide margin) in the number of tests that we perform on babies, and these tests can save lives because early detection for many diseases is the difference between life and death.

This legislation is important to our family because ___________________________…

Please consider helping save the lives of children in Pennsylvania by supporting this important legislation.

Thank you,

__________________________

If that doesn’t fire you up, check out the map below. Pennsylvania is LAST in the nation by a wide margin in the number of diseases for which testing is mandatory.

  
We are hoping to see another bill introduced in the near future to reform NBS even further, but we have to take things one step at a time. We will need your support every step of the way and are so thankful for all you have already done.

Rare Disease Day at the Capitol

Today was an exciting day for Tori (and us).

Today those with Rare Diseases in Pennsylvania were recognized and their advocacy efforts were applauded publicly at the Capitol.

Tori and I (along with our friend, Michelle, who often drives Tori and me places so that I can care for Tori in the back) went to represent Krabbe and other leukodystrophies.

We didn’t know what to expect, exactly – we were told beforehand that there would be networking opportunities and a press conference. So, we prepared a flier about Krabbe and brought Tori’s business cards along.

There were many rare diseases represented, but, of course, it wasn’t even a fraction of all the rare diseases in the world (thousands). There were several speakers, and most of them have rare diseases themselves. Some legislators from the newly formed Rare Disease Caucus spoke as well.

We had the opportunity to meet Representative Kevin Schreiber from York County (he was standing right behind us and started a conversation) and he asked many questions about Krabbe and Tori. He was so kind and talked to her ❤

We also met Senator Jay Costa and saw his press secretary again (we met with her about one month ago).

There are so many rare diseases that it can seem overwhelming. Each one may affect just a few, but together they affect many.

I’m glad we could participate today and tell a few more people about Krabbe.

Thanks to our friend Michelle for taking the photos above! You can see more of her work here.

Here are a few from my phone: 

   
    
    
   

Take Action to Implement Newborn Screening in PA

Tori’s story being in the news last week has started an amazing campaign to get Pennsylvania to start screening all newborns for Krabbe and other similar genetic diseases! 

The law was passed over a year ago but has yet to be implemented.

Hunter’s Hope has created a form to make it very easy for Pennsylvania residents to contact their state representatives in regards to the implementation of Act 148 of 2014 (“Hannah’s Law”).

Please send a letter – it takes thirty seconds! Then share this with everyone you can. 

You can personalize the letter for Pennsylvania and send it here.

If you aren’t a resident of Pennsylvania, you can write your own state legislators here.

Let’s make it known that we want newborns to be screened for Krabbe at birth!

The Push for Implementation of Hannah’s Law (Act 148 of 2014) in Pennsylvania

After over a year of lobbying by the parents of Hannah Ginion, Hannah’s Law (Act 148 of 2014) was signed into law by Governor Tom Corbett on October 15, 2014.

The full text of the act is as follows:

Session of 2014        No. 2014-148          HB 1654

AN ACT

Amending the act of September 9, 1965 (P.L.497, No.251), entitled, as amended, “An act requiring physicians, hospitals and other institutions to administer or cause to be administered tests for genetic diseases upon infants in certain cases,” further providing for newborn child screening and follow-up program.

The General Assembly of the Commonwealth of Pennsylvania hereby enacts as follows:

Section 1.  Section 3(a)(1) of the act of September 9, 1965 (P.L.497, No.251), known as the Newborn Child Testing Act, amended July 4, 2008 (P.L.288, No.36), is amended to read:

Section 3.  Newborn Child Screening and Follow-up Program.–(a)  In order to assist health care providers to determine whether treatment or other services are necessary to avert mental retardation, permanent disabilities or death, the department, with the approval of the Newborn Screening and Follow-up Technical Advisory Committee, shall establish a program providing for:

(1)  The screening tests of newborn children for the following diseases:

(i)  Phenylketonuria (PKU).

(ii)  Maple syrup urine disease (MSUD).

(iii)  Sickle-cell disease (hemoglobinopathies).

(iv)  Galactosemia.

(v)  Congenital adrenal hyperplasia (CAH).

(vi)  Primary congenital hypothyroidism.

(vii)  Certain Lysosomal storage disorders (LSDs), including:

(A)  Globoid Cell Leukodystrophy (Krabbe).

(B)  Fabry.

(C)  Pompe.

(D)  Niemann-Pick.

(E)  Gaucher.

(F)  Hurler Syndrome (MPS I).

* * *

Section 2.  This act shall take effect in 60 days.

APPROVED–The 15th day of October, A.D. 2014.

TOM CORBETT

The Act didn’t just add Krabbe – it added several other genetic diseases that require treatment as early as possible in order to save the child’s life.

The government said at the time that it would take one year to begin testing in order to allow the labs time to prepare to add these diseases to their screenings.

One year has come and gone.

A spokesperson from the PA Department of Health gave this statement when asked about the screenings by CBS21:

“The Department is currently discussing the exact date for testing to begin. It has not yet been finalized.”

Read More at: http://www.local21news.com/news/features/top-stories/stories/Despite-law-screenings-for-Krabbe-disease-aren-39-t-happening-227853.shtml

Each day that passes without these screenings in place puts more children at risk. Needless deaths are going to happen because these children weren’t even given a chance for life.

It is rumored that it is because of finances, especially since Pennsylvania does not yet have an approved budget for the fiscal year. As of March, the proposed budget included increased funding for the added screenings, but since the budget has yet to be signed, it is useless.

MONEY SHOULDN’T PUT THE LIVES OF BABIES AT RISK.

It is our hope that, with your support and assistance, we can push them to implement testing NOW.

How can you help?

Let’s start by contacting Dr. Karen Murphy and politely requesting that testing begin. Her contact info, per the state directory, is:

Dr. Karen Murphy PhD, RN

Secretary of Health
karmurphy@pa.gov

Address: Health & Welfare Building,
7th & Forster Streets
Harrisburg, Pennsylvania 17120
Phone: 717-787-6436
Fax: 717-787-0191

We can also call the Newborn Screening and Follow-Up Program directly: 717-783-8143

Here is the Department of Health’s Facebook page:

https://www.facebook.com/pennsylvaniadepartmentofhealth

And they are on Twitter here: https://twitter.com/PAHealthDept – please use a hashtag like #MakeKrabbeKnown #NewbornScreening #KrabbeAwareness or something similar to see if we can start a trend. Here is the tweet we sent: https://twitter.com/The_Brackbills/status/662304148403167232 if you’d like to retweet it.

Hannah got the law passed; perhaps Tori, Grayson, and Zander can get it implemented. 

Please contact them (with kindness, please) and keep asking why Krabbe isn’t being screened for at birth. This will make all the difference in the world to future parents of babies with Krabbe and other similar diseases.

And PLEASE let us know what they say! Comment here or on Tori’s Triumph-Team Tori on Facebook.

Let’s do this!