Follow-up to the Previous Post

Our good friend, John Neal – founder of Team Krabbe Strong and advocate for Krabbe awareness and Newborn Screening – gave me permission to post his letter regarding the article I blogged about here. He said this so well and I wanted it to help it have a greater audience by sharing it here.

Dear Andy and Brenda:

My name is John Neal, and I am writing you this email in regards to your article published on WebMD regarding Krabbe Leukodystrophy. I am an advocate for families who have been affected by this horrible disease, working with them and other organizations from around the globe in efforts to raise awareness. Part of that awareness is advocating for universal newborn screening for the disease throughout the United States. In my home state of Pennsylvania, we continue to work with lawmakers to enact a bill that was signed into law two years ago. This is also the case for laws that have passed in Illinois, New Mexico and New Jersey. Ohio has mandatory testing with the option of refusal, while Kentucky, Tennessee, New York and Missouri actively test for the disease. Louisiana’s Governor recently signed a bill to begin testing in the near future. Families in Maine, Maryland, Mississippi, California, Arizona, Iowa, Oregon, Texas, North Carolina have been actively trying to have their states follow suit, just like Cove and Jackson’s families are trying to do in Georgia. And so I ask you: Why would you write an article that would shed such a negative light on the testing procedures and treatments available for Krabbe Disease?

As my blood is boiling while writing this, I will try to do my best to be amicable and respectful to you both. But quite honestly, I’m not sure either of you deserve my respect right now. And I can think of a few affected families who were interviewed for this article, and then misquoted, who are as equally upset with your unprofessionalism and deception.

First, how do either of you justify your content in this article? Seriously?! As if we didn’t have to deal with enough politics to achieve our goal of universal newborn screening, now we have to deal with an article (written by what I thought was a reputable source) that contains obvious bias by it’s publisher? Mr. Miller, what is your ulterior motive with this article? You reside in Georgia with your wife and children, right? So I am assuming it is you that initiated this piece? Or you were asked to? It has politics written all over it. It is so one-sided, with the intent of shoving misinformation down readers throats, so that if/when they see that Cove’s Law didn’t pass it can be justified. No one will forgive lawmakers who want to harm little babies, so why not make it seem like they’re saving them (from this horrible testing and treatment)…right?

Secondly, how dare you take advantage of families who were willing to interview with you and twist their words to make your lopsided article read the way you want it to read? The Garcia family lost their boy, Jackson, to this horrible disease. They grieve every single day. And while they do, they continue to build their boys legacy in hopes of preventing any other children from having to suffer; and their parents too. Cove’s family, who has spearheaded this effort, is living daily knowing that they are on borrowed time with their daughter. And things will only continue to get worse. But rather than sit around and do nothing, they are fighting back with the same hopes as the Garcia’s. You didn’t stop there, though. You continued on to interview a family that received a positive test result and is currently at Duke University undergoing treatment to save their boys life. And once again, you misquoted them and draw a focus on the negative side of things. They don’t need that! They’re fighting for their son’s life, who is doing incredible by the way! They don’t need any unnecessary stress caused by your brainwashing article.

Let me ask you this: Did you try to reach out to Wilson family that has a six year old son who is living a normal life, free from krabbe (after receiving transplant)? Michael was diagnosed because of his older brother, Marshall’s, diagnosis. Marshall has since passed from complications due to the disease, but it cost him his life to save his brothers. Did you reach out to them? How about The Galindo family in California whose daughter Faith just turned 20-months and is walking and talking (post transplant)? And how did they know to test? They lost a child previously to the disease. How about the Webb family in Tennessee whose son Owen is doing great? And he, yet again, is a child who was tested because he lost a sibling he never had the chance to meet. The Mabry Kate Act is named after his sister that passed two years ago’ and act that is responsible for the positive test of a baby boy who is currently being treated and doing amazing (in the states first year of testing). Just like Kentucky, who produced a positive test and the child is receiving treatment and doing incredibly well (first year of testing). NO. The answer is NO! You didn’t interview anyone who is doing well. Instead, you took information that is a decade old, and created an article to read the way that you wanted it to read.

Brenda, I know Andy has children…do you? Let me ask you both a question: Let’s say your children were born in a state that tests for Krabbe. And then let’s say you received a positive result that required further testing. So then you Google the disease, read up on it, and spend endless nights crying not knowing what is going to happen to your child. They go through lumbar punctures and MRI’s to determine a definitive diagnosis. Super uncomfortable for a baby just born, I know. But it is a necessary evil. And then let’s say after all of the testing, it turns out that they didn’t have it. Thank God! My question is, what would you say to a family who lived in a state that didn’t test for the disease? What would you say to the parent that wishes all their child had to endure was an MRI and Lumbar puncture rather than have to watch them deteriorate daily? What would you say to the family that has been told to make funeral arrangements for their six month old instead of first birthday plans? What would you say to the family who live each day knowing they will lose their child before their second birthday?

Let me tell you what you would say: You would say THANK GOD MY STATE TESTS and after further testing it came back negative. Cause I damn sure know you’d rather be the parent with the MRI and Lumbar Puncture rather than the latter of the parents I mentioned. And those other parents, they won’t be crying during one week of testing, they’ll be crying every night for the rest of their lives wondering what could have been if only their child was tested.

Did you reach out to Dr. Kurtzberg? Did you know that she has recently submitted a paper for publication with some updated results, specifically results that show promise of improved testing for the early infantile form of the disease. The form that would directly correlate with newborn screening. OF COURSE YOU DIDN’T!!! That wouldn’t benefit you!

I am sure you did get some information from organizations and people affiliated with organizations who prefer not to test, but rather to focus on improved treatments. And in that case…MONEY TALKS. I get it. But politics should not be making the decision of who lives and who dies without a chance. There are reliable testing methods and treatments currently available, and treatments that are saving lives. These kids are living quality lives. And yet, you chose to unprofessionally publish an article that features all of the negatives. How do you feel now? Do feel good about yourself and your work? Do you know the potential setbacks you can cause with such amateurish work? If you didn’t have the up-to-date facts, then you shouldn’t have written anything at all. But because it hit home, in Georgia, you did like most media and fabricated a story to get it done, rather than wait for the truth. Congratulations.

In ending, I would request that you rescind this article. Delete it. Make it disappear. Then go back to the drawing board, do your homework, and re-write it in a professional matter. Do what is right. Do right by the families you’ve wronged, and do right by the families who suffered long enough and are trying to make a difference. Can testing and treatment be improved? Absolutely! And we work on that equally as much as we do newborn screening. But portraying the current methods available in the negative way you did…that was 100% wrong. Please fix it.

Sincerely,

John Neal

Team Krabbe Strong

Inaccuracy in Reporting about Krabbe

I’ve hesitated to bring any attention to an article which was published this week regarding Krabbe and Newborn Screening because it’s incredibly inaccurate and biased. It has caused quite a stir among us Krabbe families and we’ve been trying to figure out how to respond.

So, while I don’t want to drive traffic to this terrible article, at the same time, I feel that being silent is the worst course of action.

You can read the article here (and it was also published on WebMD here).

The article was written in response to a law making its way through the Georgia state house to allow parents the option to have their children screened for Krabbe. While the authors make an attempt to sound unbiased, it clearly failed and their bias is evident. The title itself is evidence of that.

Not only did they misquote two Krabbe mothers, but they also reported false information in an attempt to show their bias. They gave false data about transplantation, and they also didn’t talk to any families whose children were successfully transplanted years ago. They were also wrong about the oldest known survivor of Krabbe, among many other inaccuracies in the piece.

The authors chose to interview those who had their babies flagged by Newborn Screening who ended up not having Krabbe (false-positives, which is an inaccurate term anyway for Krabbe; had the doctors handled it correctly, they would have said the baby was flagged for further testing, not that they were “positive”) and discussed the “stress” and “trauma” caused by those two weeks of waiting for the news. I’m sorry, but give me a break. LOSING YOUR CHILD when you could have attempted to save their life is traumatizing but the article said NOTHING about that. Waiting for further testing to be completed, if the doctors prepare them correctly, is not as bad as they portray it. This study provides a look at false-positives and how they should be handled.

Just because you are a medical doctor doesn’t mean that you are automatically an expert on Krabbe. It is clear that we as Krabbe families know far more about the disease, the pros and cons of treatment, etc. than these authors do, and we wish they would have consulted us before writing such a frustrating article.

There are SO MANY success stories not mentioned here, so many children alive and thriving today who would have died from Krabbe had they not had a transplant. And they wouldn’t have been able to receive a transplant had it not been for Newborn Screening. Yet, the article barely mentions these children. Convenient.

For an unbiased look at the lessons learned from Newborn Screening for Krabbe, read this article. Talk to the parents who lost a child to Krabbe, and those who were given the option (THANKS TO NEWBORN SCREENING) and chose to transplant their child to give them a chance at life.  Talk to someone who has actual life experience with the disease and don’t rely on articles such as this one. 

Newborn Screening for Krabbe is NOT harmful but is essential and beneficial for all involved. We will continue our fight, no matter what the opponents may say.

(You can also read this post, a letter from our friend John Neal to the authors of the article.)

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!

 

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. 

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! 
 

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!