Information Overload

This has been a tricky blog to write.  There is much I want to share about what is happening in terms of research for Niemann Pick A currently, but it is both complex to explain and early stage research that is not yet published so I have to be thoughtful about the researchers privacy.  That being said I think it is important to share what is happening and most importantly recognize once again that it is not currently enough for our babies or the complex and horrible disease they are persevering against. 

Niemann Pick A is difficult to study because it affect so few children and is such a multifaceted disease.  What I mean by that is these children often carry very different mutations, making it difficult to create single  “study”/project, and clinically they are all very individualized in how the disease is affecting them.  Also, because it is such a rapid progressive disease it is important to understand that when doing this research many children are not diagnosed until after 6 months of age and begin to become symptomatic almost immediately.  That means that we need to find a therapy that works quickly for their little bodies and minds before the damage is done. 

I feel I must take a quick step back.  There is another a VERY important element of Niemann Pick A that must be brought up … it affects our children’s brains.  Therefore any medicine, treatment or therapy that needs to be developed MUST pass through the blood brain barrier.  The blood brain barrier is usually what keeps us safe from infection etc and in the medical community has yet to be tackled very well for therapies to pass through it.  Can you imagine all the diseases that will be helped when this get’s developed more thurally that it currently is?  It will be an epidemic of miracles.  Science is close, but needs the continued funding and support.  It is so important to so many families like ours.  Because Niemann Pick A makes acidsphicomylin build up in our little ones brains, the clinical being offered for Niemann Pick B (which is not neurological) is not available for type A patients.  This is still a powerful therapy and so important and hopeful for our Niemann Pick B community, but unfortunately will not save NPA babies.  You can learn more about this NPB clinical trial HERE

This weekend we were surround by familiar faces that we have come to love like our friends at Genzyme, the Niemann Pick Board and Dr. Wasserstein.  We were also surrounded by new faces as the  International Niemann Pick Alliance conference was being held at the same time, for the first time, this year.  UH-mazing.    That is how we came to bee Dr. Llouis Samatach (original from Spain and now working in from Dr. Bankeiewicz lab at UCSF) and Maria Dolores Ledesma (currently researching NPA and who believes in all things Wylder and our Niemann Pick A families).  They are both very bad ass!   

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Dr. Llouis Samaracnch Gusi | Dr. Bankiewicz Lab | Department of Neurological Surgery

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Many of you know of this study, but I have to tell you Dr. Llouis is a passionate and bright man that is the right person for the job.  We should all feel blessed that he is the one working on such a complex study.  This is the latest fellow ship that has been funded by the NNPDfoundation through Dr. Schuchman.  They are working on the possibilities of having a recumbent human enzyme delivered directly into the brain sterio-tacktly or through the spine.  I know it is a lot of reading but here is the project summary;

 http://www.nnpdf.org/documents/LluisGasi_LaySummary112012P.pdf

An April 2013 Update

http://www.nnpdf.org/documents/LaySummary_April2013.pdf

The latest updates on the project are coming within the next two week and I will share in  another blog as soon as I receive them of course.  There has been a great deal of progress on this study including things that have not worked, which is still very powerful information as they continue to move forward with more studies.        

PICTURE

Dr. Maria Dolores (Lola) Ledesma From Madrid Spain – International Scientific Advisory Board for NPA

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As far as I know she is the only researcher currently studying a live colony of mice with Niemann Pick A.  This research is happening in Madrid Spain. The project was originally funded in 2009 and she has determined babies with Niemann Pick A need just above 1% enzyme activity to save their sweet little brains (they currently have zero).  That is powerful information.  That means just the littlest bit of activity is going to be life saving!  She has also found some support that shows that Enzyme replacement therapy with Bone Marrow has had a powerful affect on the brain.  This of course all needs to be studied much more thurally and is a very big undertaking for these children and their families, but information in power, right?  Some of the most powerful information Lola shared was she is finding certain drugs that DO successfully (and unknowly to others) pass the blood brain barrier (in mice), WOW.  Although a very primitive study, this needs more support desperately which is where some more heartbreaking news comes into play … the funding is just not where it needs to be for Niemann Pick A currently.  This study and many others needs to be supported more so more testing, toxicity levels, timing of giving the drug ect can be studied.        

http://www.nnpdf.org/documents/GrantNumber48SchuchmanApr08toMar09.pdf

http://onlinelibrary.wiley.com/doi/10.1111/j.1471-4159.2010.07034.x/full

Further research is needed at this point, which means we will all need to continue to join together to show our support and love for Niemann Pick A families.  That is yet another reminder to Steven and I that we will not give up and are on the right path with Wylder Nation Foundation’s mission.  Just to keep a single colony of NPA mice alive and study-able cost approx $40,000 per year to maintain.  Science is expensive.  This is going to take an army but I know it is possible.    

Needless to say, we plan to keep in touch with Lluis and Lola for a long time and support them in whatever way possible along with a currently project Steven and I continue to put together in collaboration with TGen.   We will of course keep all of you in the loop on how you can help when that time arises (soon).  There will be a lot happening for Niemann Pick A in the very near future.  It is going to be powerful.

The magnitude of what we are up against as we all know is going to be trying … but I believe we will get there soon and it is all too important as we all know so well.  It is so important to remember we must  come together to make this happen, no one person, scientist, family can do it … it must be complete unity and collaboration.  I hope I did not completely overwhelm you with this blog, but it is all too powerful not to share and begin to understand together. 

Wylder thank you for showing us the way and bringing so many together to one day save others.  You are loved little one.  xoxo 

wylder on his trip to meet Dr. Wasserstein Jan 2010

wylder on his trip to meet Dr. Wasserstein Jan 2010

Comments

  1. I loooooved this Shannon. wow, you and Steven are amazing, keep us all updated on all we can do. We are here for you Wylder Nation! xoxo, Chelsea

  2. Hello – we have met in Baltimore. Thank you for sharing this information! Yes, it is powerful and I hope that this amazing work will continue. NPA and NPC are not the same – but we do have something in common – hope! Greetings form Switzerland – Claudia Oetterli

    • Mommy and Daddy says:

      Hi Claudia. Glad you made it home sweet home to your sweet boy. It was so wonderful to meet you this weekend. With HOPE always, S xoxo

  3. Cathy Johnson says:

    Wow! Thank you for the info, Shannon. And for keeping the research aspect in the forefront for us. I totally agree that when the initial crucial breakthroughs are made, it will begin to rain miracles. As you know, I have a family connection to San Filippo Syndrome, another lysosomal storage disease. This article was recently published: http://www.news-medical.net/news/20130703/Gene-therapy-developed-by-UAB-cures-pediatric-Sanfilippo-Syndrome-A-in-animal-models.aspx about a potential cure in mice, including restoration of brain functions. I haven’t been able to find any publications other than this article, so I don’t know how strong this study is, but if it’s at all valid, this is exciting news. Once a cure is found for one lysosomal storage disease, the rest can’t be far behind. Again, thanks to both you and Steven for keeping us all on our toes and inspiring us to do whatever we can to give NPA the boot! xoxoxo

    • Mommy and Daddy says:

      Thank you so much for sharing this Cathy, such powerful information. Just love, love, love those researchers!!! LSD’s will oneday be only be a disease remembered, not fought. xoxo

  4. Becky Bramer says:

    Shannon,
    Thank you so much for this update on the NPD research. Keep us posted!

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