Thursday, January 21, 2016

Forward Movement!

We have a researcher! A researcher was found from the UK who has been studying ATG4D in a functionality sense. We have been in contact via email and I am currently working on getting him in touch with Asher's doctors.  We also have a couple of more leads to look into as well however Asher still remains the one and only at this time.
Asher also had made great strides himself this week.  He was fitted for SMOs  (a type of brace/orthotic) and he took them home almost 2 weeks ago.  He loves them! They have batman on them,  which he chose of course,  and was able to do things in PT today that he hasn't been able to do.  A  simple 2 footed jump is nothing to most of you but it was a big step for this guy!  He has also has been able to run and walk more easily with less falls.
This entire week we have felt incredibly blessed from the outreach and support of everyone. This little blog has been viewed over 9,000 times and had reached more than 10 differnt countries.  A simple share from a friend, family member,  and/or coworker has gotten us here!  I urge everyone to keep sharing and follow along on this journey with us.  Thank you!
For all those first timers,  make sure to read "seeking answers"

3 comments:

  1. Praise God!! Once in a while social media is great!

    ReplyDelete
  2. Hi Jennifer,

    That's wonderful to hear! Thank you for sharing your story.

    I just read your posts after seeing Matt Might's Twitter post and though I'd pass along my thoughts. I'm a PhD student working on the Matchmaker Exchange and on PhenomeCentral (a site for clinicians/scientists to find additional families with the same rare disease). The only real advice I can give is to help you find other families with the same condition, but you've already taken a huge step in that direction with this blog.

    Here are a few resources to take a look at when you have a chance:

    1. You could ask one of your doctors to list your son on PhenomeCentral (which is connected to the Matchmaker Exchange). We'd be happy to help them, but this does put a lot of the onus on your doctor. https://phenomecentral.org/

    2. I'd second the suggestion of connecting with the Genetic Alliance.

    3. GeneMatcher is another one of the sites currently connected to the Matchmaker Exchange, and the only one that currently allows patients to directly participate. You can just enter ATG4D and get notified if any other patient, clinician, or scientist identifies ATG4D as their gene of interest. Other families have found answers in this way. https://genematcher.org/

    4. GenomeConnect is an NIH initiative to engage patients in sharing their data with scientists and researchers. They're a wonderful group. https://www.clinicalgenome.org/genomeconnect/

    5. PatientKind is a project our group at the University of Toronto is working on to help families with similar symptoms find each other. You can share a summary of your son's condition so other families that haven't yet identified ATG4D as the cause can find you. It will be connected to the Matchmaker Exchange soon, as well. If you're interested, just let me know, and I'd be happy to set up everything for you. https://www.patientkind.org/

    Best,
    Orion
    buske@cs.toronto.edu

    ReplyDelete