Reading and Influencing Research

Posted Friday January 06, 2012 by Melissa


I am a big reader of research, or at least the abstracts of research articles, since consumers are often charged upwards of $30 per research article (although our doctors can get them for free). So, I read my abstracts, keeping an eye on anything that is helpful now or that I need to tuck in the back of my mind for later (hopefully never).

But where do I find this research? And, how can we make a difference in what research is published?


One of my saved searches on PubMed

  • PubMed: PubMed is a collection of medical journals maintained by the National Center for Biotechnology Information, U.S. National Library of Medicine.  You can search for articles by author, title, and search terms and maintain lists of articles that are relevant to you. Register for an account then read the PubMed Quick Start Guide to start searching and saving your searches. Be sure to use a variety of search terms or several independent searches to catch all articles (for example, I use mucopolysaccharidosis, MPS, and Hunter Syndrome). You can be notified of new articles that match your search terms and receive links or the full abstract by e-mail. In some cases, you can actually obtain the entire article for free, but most require you to pay for the full article. You can also ask your child’s doctor about getting you a copy of some relevant articles.
  • Forum Collection: Another source for MPS articles is the wonderful MPS/ML Forum maintained by Jessica Wellman, an MPS I parent. Once you register for the forum, you can read copies of articles that parents have posted. It is organized by MPS syndrome and includes some of the most recent published research.

Submit Research Questions

Have you ever had a question about MPS that you only wish someone would look into? For many of the MPS subtypes, there is a registry or database of information on hundreds of patients and their condition, surgeries, tests, etc. over time. For Hunter Syndrome, it is the Hunter Outcome Survey or HOS. My understanding is that doctors can query these databases to answer questions, look for trends, and analyze the data, and then can write research articles (that then end up being searchable by us on PubMed…) about what it tells them.

Us parents, however, do not have access to this data, and trying to make that happen is a different question altogether that I won’t reach today.

But, I would love to gather our questions, our ideas of what we would search for if we could mine that database. I’ve had many over the course of the last few years since Case was diagnosed. My hope and goal is to eventually create a permanent page where clinicians could actually see issues are really relevant to families when they live the life of MPS. This won’t be possible unless you comment and submit your questions, so please ask away!

I’ll start:

Research Q#1: What percentage of MPS II boys go on to have elevated intracranial pressure (hydrocephalus), at what average age is the elevated pressure detected, by what methods is it detected, and the range of intracranial pressures measured?

You may also like:

5 Responses to “Reading and Influencing Research”

  1. Goodness Melissa, too many for here! We need to talk!
    1. Neurologic decline: first signs (for the whole spectrum: those who decline early and those who decline later, or are they the same?), the latest age at which a kid can begin to decline and by what age, if your child has gotten there, you know they will not have neurologic decline.
    2. Carpal tunnel syndrome: if ERT started soon enough, can it prevent it? how do you know when to do surgery? how often are EMG & nerve conduction tests recommended? what are results of carpal tunnel releases?

  2. I would love to see more research into the bone issues, especially since ERT doesn’t help in this area much. Is splinting beneficial?

  3. sarah mitchell // January 10, 2012 at 7:30 pm

    i echo deb’s two, both are on my mind daily.

    also, i’ve been wondering about antibodies some kids build up to elaprase? does this reduce its effectiveness? how often should you check for antibody presence? does shire still test this for us? does getting infused when the child has symptoms of a cold/respiratory infection pose a threat to building up antibodies.

    i just want to make sure there isn’t something i could be doing to help prevent an antibody situation if it does in fact impact the body’s uptake of elaprase.

  4. Google Alerts – ive not checke if anyone else suggested this but I use several different keywords an frequently will get access to the full article as well or the authors email will be listed and can directly email and they will send back a copy of their article. Some possible keywords include:
    MPS I (MPS II for most of you)
    Hurler-Scheie or Scheie syndrome (Hunters again)


    • Yes, Erica, Google alerts are fantastic. I have them set for MPS stuff, rare disease, special education, assistive technology searches, etc. I have them sorted into folders then fed into the Mr. Reader app on the iPad. It is so easy to find the latest info that way!