Krabbe

Hunter’s Hope Symposium 2017 – Day Two

/ lesabrackbill / 1 Comment

Today we heard updates from several hospitals that are working toward becoming Leukodystrophy Centers of Excellence in order to better care for these children and their complex needs, and we also heard research updates.

I'm going to jump right to the research updates because this was incredibly exciting.

First, we were told that Dr. Escolar has a paper that will be published the first week of September (a week AFTER the next NBS Advisory Panel meeting in PA) and this paper could very well get Krabbe onto the federal RUSP because it answers questions that previously weren't as clear. Why does the RUSP matter? Many states will only screen for diseases that are added to the Federal RUSP; once Krabbe is added, many states will automatically test for it!

As you probably remember, one of the things we (and many other families) have been told as we advocate is that they need published data. We've all been waiting and waiting for something to be published to help our case for adding Krabbe and this will apparently be it!

Second, and THE most exciting part: they are so close to a cure for Krabbe. The doctors didn't say it like that but it was apparent that is what they meant. Dr. Escolar and others have been treating twitcher mice with Krabbe successfully using the bone marrow transplant AND gene therapy together and the outcomes have been unbelievable!

This chart shows the life span of mice who were untreated, treated with bone marrow transplant only, and a combination of the two. The combination therapy is the top blue line. The mice who had the combination therapy in 2015 are STILL LIVING and show no signs of the disease!

The FDA has approved the idea but it won't go to clinical trial for 3-5 years unfortunately. In the meantime, our hearts are so hopeful because this is incredible news.

Thirdly, they discussed the improvement in the NBS test itself and the near-elimination of false positives using two factors and not just one (low GAL-C activity and high psychosine levels) and by using a computer algorithm to sort the data that has proven to accurately predict the form of the disease (early or late onset).

I tried to simplify all of this the best I could. To sum it up, research has made leaps and bounds in just the last two years and they are closer to a cure than ever before!

Dr. Kurtzberg from Duke also reported on the success they are seeing in stem-cell treatments of Cerebral Palsy and Autism. Stem cells from cord blood are incredible tools and doctors are doing amazing things with them.

Hunter's Hope does such an amazing job of not only funding research but also coordinating the dialogue and cooperation between scientists who are all working toward the same end. If you would like to support them, you can click here! Our goal is to raise $3,000 for them before Friday's walk!

Hunter’s Hope Symposium 2017 – Day One

/ lesabrackbill / 1 Comment

Symposium time is here!

It's the one time each year we are surrounded by people from all over the world who understand exactly what we have been through. It's the week where we can let our guard down and enjoy these precious moments with our Leukodystrophy family knowing that we fit in here, that we are "normal" here.

None of us would have chosen to be in this position, to be in this "family" of such suffering and grief, but we cherish the relationships and the joy that have come out of everything we have endured.

If grief and pain were measurable, the weight of it just from these precious families here would be astronomical in size; every family here has lost – or will lose – a beloved child (or two), something which has been called the most painful thing a human can endure; and yet, all we see are smiles, joy, friendships, authenticity, and an appreciation for each and every moment. We see hope. And it's amazing.

This is our third year at the Symposium and it's the first one I have been slightly hesitant to attend, for reasons I am still deciphering.

Perhaps it's this: Tori was with us for the first one and she was cherished by all; last year she had gone to Heaven a mere four months earlier and everyone remembered her; will she be remembered this year?

Perhaps this: we now seem to fall into the category of parents who lost their children "a while ago" and it's strange. It's a different feeling being here now, a year after she went to Heaven…not a bad feeling, of course, just different.

I watch the parents with their living children and am amazed at how distant that feels. The suction machines, the feeding pumps – sounds so familiar and yet such a distant memory because I haven't heard them or thought about them in a year. Something that was once part of my daily life now feels like a lifetime away.

I'm not caring for Tori constantly now, and I'm not necessarily grieving anymore (though it will never fully be over), so it's a strange place to be. It's just Brennan and me now.

Perhaps it's strange to be here because it's a time when we're forced to remember that this was our life for fourteen months, and that we did lose our precious daughter. In daily life it's easier to move on because of distractions and tasks. Even though we talk about Tori daily and think of her all the time, it's different somehow to be here surrounded by other families going through the same thing we did.

Despite my emotions through which I am sorting (thanks for letting me process above), I am so happy that we are able to be here again. We're praying that next year we will have a new baby with us ❤️

As always, I will blog about the new research findings and everything else we learn throughout the week. So thankful for Hunter's Hope and all that they do to support Leukodystrophy families.

It's going to be a great week!

One Year…

/ lesabrackbill / 5 Comments


Time is a funny thing. 

Our Tori has been a resident of Heaven for one year as of tomorrow (March 27). It’s surreal, to say the least, to think that we have lived one year without her in our arms. One year without watching her breathe, sleep, and struggle as Krabbe overtook her fragile body. One year since she was healed completely and made whole once again.

Why is it that today, the day before the one year anniversary of Tori’s Heaven-going, my heart feels so heavy? She was gone yesterday, she was gone two months ago; nothing has changed, but for some reason this milestone brings back emotion. This is a rhetorical question, of course. Time is strange in that it heals but it also reminds you of what you once had more strongly as it passes.

We’ve pondered how to spend March 27 for months now, and we came up with an idea last week to return to the Philly Zoo to feed giraffes. However, we won’t be able to do that until April 17, so tomorrow we will celebrate her Heaven-going anniversary by eating fried apples at Cracker Barrel (her favorite!) and remembering her with joy. 

We refuse to sit at home and be sad – that isn’t how we lived life with her and that will not be how we live life without her. We taught her to embrace life and choose to be joyful, and that’s what we will do tomorrow. We remember God’s faithfulness and perfect guidance the ten days before He called her home and are filled with gratitude. 

We miss our baby girl every moment of every day and we anxiously await our someday reunion in Heaven. But, for now, we will continue to live life with passion and joy, just like we did with her here. ❤

Follow-up to the Previous Post

/ lesabrackbill / 1 Comment

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

/ lesabrackbill / 7 Comments

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

/ lesabrackbill / 7 Comments

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 

/ lesabrackbill / 1 Comment

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.