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!

 

Meeting with the Physician General

Today I had the privilege of attending a meeting with Representative Angel Cruz and his staff, Dr. Rachel Levine (the Physician General of Pennsylvania), and two other state representatives regarding Krabbe and Newborn Screening in Pennsylvania. 

Many other Krabbe families had hoped to attend but were unable to do so, and I conveyed that fact to those in the meeting. 

Dr. Levine opened the meeting with a recap of all that has happened since Hannah’s Law was passed and also spoke about the meeting yesterday with Dr. Vockley, the governor’s office, Rep. Cruz and his staff, and Dr. Kurtzberg from Duke University by phone. 

Dr. Kurtzberg was invaluable yesterday as she filled the group in on her research and her transplant success rate (over 90%). Dr. Vockley expressed the same concerns he had at the April meeting and she refuted all of them, as expected. I was told that Dr. Vockley seemed to be open to changing his mind about Krabbe, so the August NBS meeting should be interesting. 

Dr. Levine then looked at me and said she mostly wanted to hear my perspective, as a parent, and gave me the floor. I was surprised but pleased with the opportunity. 

I shared with them why we are so passionate about every child being screened for Krabbe, and we had a wonderful discussion about the topic. I answered questions Dr. Levine had and also asked some of my own.

I also mentioned our concern about Pennsylvania’s two-tiered system which doesn’t screen all babies in the state equally. Dr. Levine agrees wholeheartedly about the system being antiquated and in need of reform.

We discussed the misinformation being spread by hospitals (claiming they are screening for Krabbe) and I asked for clarification on what was actually happening.

Dr. Levine stated that if parents in Pennsylvania ask for their child to be tested for Krabbe it will be done.  

However, that requires knowledge about the disease, and I told those in attendance that Brennan and I had NO idea that it existed or that we were carriers. How could we have asked?

Rep. Cruz then asked the Dept. of Health to create an educational pamphlet or some similar method of communication to educate parents, obstetricians, and pediatrician about the fact that they have the right to ASK for the Krabbe screening and it will be done. Dr. Levine said that they will bring this to the attention of the Secretary of Health immediately.

While no immediate actions were taken, the discussion was positive and much better than I had anticipated. 

Dr. Levine was kind and genuine, and (which she didn’t directly say this) I truly believe that she will do what she can to ensure that Krabbe is added to the mandatory panel in Pennsylvania.

Progress is being made, and we truly hope that Pennsylvania will be the fifth state very soon to automatically test ALL babies for Krabbe! 
 

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!

Update on the Implementation of Hannah’s Law

We have an update on the status of Hannah’s Law (Act 148 of 2014).

Read 2014 Act 148 – PA General Assembly here.

I started making phone calls about three weeks ago to determine when the Newborn Screening Advisory Committee would be meeting so that Brennan, Tori, and I could attend.

I found out that the Committee met on December 17, 2015.

(Remember that we all wrote to the Department of Health in November and not a single person mentioned this to us.)

It took a few more phone calls to find out what was decided (since they did not post an update in the PA Bulletin), but I finally reached the correct person and received the following information:

I spoke with the Director of the Division of Newborn Screening and Genetics.

She informed me that the panel decided to only make screening for Pompe (just one of the genetic conditions in Hannah’s Law) mandatory statewide. Pompe is the only one of the LSDs that is currently on the Recommended Uniform Screening Panel  which is why they added that to the Pennsylvania panel.

It is now up to each hospital whether or not to screen for the other lysosomal storage disorders (LSD) in the law.

“Where you live should not decide whether you live or whether you die.” – U2

I asked her if the hospitals would screen for Krabbe if parents asked for it, and she said no, but that they would refer them to Hunter’s Hope for the supplemental screening kits. This information conflicts with what our research told us – that the hospital would test if you specifically ask – so it is safer to just order the kits since we aren’t sure what is actually happening.

All of this supposedly went into effect on Friday, February 5, 2016.

Here’s the problem: we have confirmed ourselves that several Pennsylvania hospitals are telling people that they are screening for these diseases and we can say with confidence that they are NOT screening. NO hospital in Pennsylvania is actually screening for Krabbe or the other LSDs in Hannah’s Law right now. 


 

Tori, Brennan, and I went to the State Capitol today and met with the staff of two different legislators to discuss this issue and to talk about possibly introducing new legislation to change the way that Newborn Screening is done in Pennsylvania, because it shouldn’t be up to the hospital to choose. Lives are at stake and geography shouldn’t dictate life or death.

Tori had fun lobbying with us : )


 

We cannot say much more at this point, nor do we have any actions for you to take. Things are happening and it’s exciting, we just cannot share the information quite yet. We wanted to provide this small update since so many have asked us lately about Hannah’s Law being implemented.

The legislature will be back in session in March and we hope to have additional updates for you at that time.

It never hurts to write to your representatives and Hunter’s Hope has made that incredibly simple! Go to this link and you can customize a letter they wrote and it will go to the appropriate people.

We feel encouraged by our meetings today and by the potential for great change to happen in Pennsylvania that will save lives. However, we also know that the fight is only beginning.

 

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!

Response from Department of Health

This is the letter that several people have been sent in response to the Krabbe screenings:

Sent: Friday, November 06, 2015 12:32 PM
Subject: Re: Krabbe Screening

Thank you for writing. The Department of Health will do everything in its power to ensure that babies with genetic diseases receive timely and appropriate care. We understand that these cases can be devastating for families, and are working diligently to implement the act efficiently and with compassion.

The law passed by the legislature calls for the Newborn Screening Advisory Committee to approve any newborn screening test changes before they are implemented. In the coming weeks, the Department will be meeting with the Committee to ensure we are moving forward to protect children and their families. The department cannot move forward without the approval of this committee. The plan is to begin testing in February 2015, pending approval of the committee.

Though the Krabbe legislation, which was signed into law in October 2014, called for implementation within 60 days, resources were not allocated to appropriately administer these screenings. While the budget impasse is ongoing, and adding these new screenings could cost up to $3 million dollars annually, we are looking at ways to begin approved testing regardless of the challenges.”

Please be assured that the Department is committed to improving the health of all Pennsylvania newborns.

 Respectfully,

Karen M. Murphy, PhD RN

Secretary of Health

Pennsylvania Department of Health

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!