Hunter’s Hope Symposium 2017 – Day Two

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

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!

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. 

Hunter’s Hope Symposium: Day Four

Today was a “free day” for families to do as they pleased. Most spent time at the pool and relaxed around the resort.

Brennan played golf with three of the other fathers this morning in fog! The course is also on the side of a mountain which made it a challenge. 

We took Tori to the pool again and she loved it so much that she fell asleep! She was so relaxed!

   
    
    
    
    
 Later, Brennan treated me to a massage at the spa here at the hotel while he watched Tori. I married so well 😉 I thoroughly enjoyed my much-needed massage and tried to just relax and let my mind be quiet for once. It felt so good.

  
After dinner the kids did a talent show for all of us and it was amazing. There were several beautiful, emotional moments and much laughter as well.

   
    
 Many of us stayed late visiting, holding babies, and enjoying our last night together. The hardest part about leaving is that we don’t know if all of these babies will be back next summer. The tentative dates for next year’s symposium fall on Tori’s 2nd birthday, so we pray that she is well and able to travel so that we can celebrate with our leukodystrophy family. 

   
    
    
Brennan talking to Jill and Erin Kelly about Tori while holding Collin…

    

 I loved watching the siblings of affected children this week as they loved on all the affected babies.

   
  
 Tori and Gemma had a sleepover on the table 😉❤️😴

  
Tomorrow morning we will drive back to Pennsylvania, but we are already looking forward to our next Hunter’s Hope Symposium. ❤️

Hunter’s Hope Symposium: Day Three

Today’s format was similar to yesterday: breakfast, seminars updating us on current research and legislation, and plenty of social time. 

One of the amazing things that was shared was this: some of the leukodystrophy researchers who work for Hunter’s Hope were here for our welcome dinner on Wednesday; as they saw all of us with our babies and heard some of our stories, it apparently impacted them greatly. As with any career, you can become jaded and it can feel like just a job. Being with all of us increased their urgency to continue searching for a cure, better treatment, etc. because they realize that time doesn’t just cost money, it costs lives. I am so thankful for the brilliant minds who are working so diligently to stop these diseases from taking more lives.

Tori was having a rough time this morning and we think it was a tummy  ache (note the outfit changes in the photos 😉). Thankfully, after a good nap, she was much happier. 

  
    
    
    
After lunch the men and women split up for a couple of hours of sharing and processing. It was a powerful and emotional time as we each shared our stories and struggles of everyday life with a terminally ill child.

The extra special thing about today was that we were all able to participate in the Every Step Walk (you all helped us raise over $1,100 for Hunter’s Hope!) this evening.

    
    
Before the walk, balloons were released in honor of all of our babies and the ones who have gone before. They played the Carrie Understand one “I’ll See You Again” and it was such a powerful time as we watched the balloons float away until we could no longer see them.

  

  
We then all did a short walk and all got to be celebrated as we crossed the finish line. 

    
  

After dinner we had some fun activities and more cuddle time with our babies.   
  

  
    
    
 

Tomorrow is a free day for the families until dinner, so we will be taking it easy most of the day. Brennan is going to play golf with some of the other men in the morning, and I am having a massage in the afternoon 😄 

We have been so blessed and encouraged by being here, and though we never wanted to be part of a community like this (who does?), we are so thankful for each and every person here and for the encouragement they provide to everyone else. 

None of us can do this on our own, so having support like this is invaluable, and it is vital. 

Beauty in the Midst of Brokenness…

As we have enjoyed the past few days here in New York with our leukodystrophy family, what has struck me more than anything is the love that radiates from each and every person. 

Each and every one of us are in similar situations: our children are dying or have passed from horrific diseases. We are broken people, often unsure of what even the next hour may bring. 

Under these circumstances, you would expect to see constant tears, depression, sorrow, despondency. 

However, what we have seen is the exact opposite.

These parents have chosen to make each day matter. They have chosen to make sure their child truly lives the fullest life possible. They choose joy. 

I love watching the moms and dads with their children, showing such love, patience, devotion, and selflessness toward their precious gifts.

But what has impacted me even more has been watching these moms and dads with the other affected children – not their own – because it is evident that they love these children nearly as deeply as they love their own.

I have been trying to capture moments between parents and their babies or the babies of others specifically for this post, and here are a few that I managed to take: 

   
    
    
    
    

I have loved observing all of this , but I have especially loved watching the fathers – both with their babies and the babies that belong to others. They love holding them, talking to them, getting pictures taken with them, and loving them. They are so gentle and tender, they are completely involved in their care, and the love that radiates from their faces is indescribable.

There is beauty in the broken if you choose to look for it.

No parent chooses to have a child with special needs, but that shouldn’t change how they love their child. 

The parents we have been with this week make a daily choice to love their children selflessly, joyfully, and abundantly. They choose to give their child the best possible life they can have. And they are an example we all should follow. 

Hunter’s Hope Symposium: Day Two

What a busy and fantastic day!


Tori got to spend time with some of her buddies…this is Parker from Maryland. He is eight months old.

  

We heard from several of the leading researchers and experts in Krabbe and other leukodystrophies.

It was so informative and we feel so encouraged to know that such innovative, rigorous, and continuous research is being done to find a cure for the disease.

No matter what cure may be found, early detection is still imperative. We must continue to push each state to add Krabbe to the Newborn Screening Test!



Tori thoroughly enjoyed the lectures 😉  

Brennan had a chance to visit with Jim Kelly for a few minutes to talk about Tori.
  

Marshall’s daddy, David, wanted to hold Tori. Marshall is in the background.


  
  
  

And then it was group picture time! You think your family portraits are difficult? Try adding in adaptive strollers!

The children here do not all have Krabbe – many different leukodystrophies are present, which explains the age of some of these children.


Jim Kelly gave each child an autographed hat ❤️
  
  
  

We had dinner with Tenley and her family ❤️

Tori wasn’t so sure about having another picture taken – even with Jim! 😉

Then, the highlight of the evening: a nine year old boy from Buffalo brought blankets that he makes for sick kids to all of our children. Kwentin collects recyclables and uses the money to go to the fabric store. He said his goal for this year is to make a blanket every day.  What an incredible young man! You can see his Facebook page here.

  
  
  
  

Tori’s blanket from Kwentin ❤️


  

It was an amazing day. 😄