How to: Fast Track to Top Care

I've already heard from many people how lucky Gracie is to have me as an uncle because i have connections in the health care field, and I am so resourceful, etc. They are right. She is lucky to have me as an uncle, but not because of my health care knowledge and connections. How about, just because I'm cool. :) As much as I like being referred to as a hero, finding the absolute best providers for rare conditions is not as hard as many may think. A real hero can help others who are in similar situations. You know the saying, "Teach a man to fish..."

Below I've outlined a brief list of actions that will speed up your search for the best care:

1. Search for an online support group or society. Support groups should be easily found on the first page of a google search for the condition. Usually they are great for patients who wish to communicate with others who've "been there before." In this case, finding an online community where patients share stories and comments was not fruitful. I needed results fast, and didn't want to wait for folks to check email and get back to me.

The MPS Society is a bad example because the web page is awful. I scanned it for useful content and information, but found no list of providers, no good educational content, nothing for the newly diagnosed, and only a single "coping with" paper to download which scared the crap out of me rather than provide any sense of hope. It was much more like a "tough love, go buy some chew toys" paper. The entire site struck me as very out of date. Seems they've done no research of their own in the last 5 years to improve value of information.

So, that grim and pathetic site pushed me to step 2 much more quickly

Step 2 - Mine the recent academic literature. If the condition isn't rare, than there may be an entire journal dedicated to the disease. If not, there are other ways to track down the best. If there is a "good thing" about a rare condition, it's that there are usually only a handful of groups conducting and heavily publishing research on efficacy of different treatments and outcomes for the condition. This will likely narrow your search to no more than 3 or 4 academic medical centers.

Note: google searching is not the answer. You really need a focused search engine to find the best work. Pubmed http://www.ncbi.nlm.nih.gov/PubMed/ is probably the most comprehensive and widely used search engine in the academic medical community. It's free to search, and easy to use. Just type in the name of the disease (MPS-I) and the words "treatment" and/or "outcomes" and you should get a long list of published studies with frighteningly long and confusing titles. Click on a few that make the most sense, but only if published in the last few years.

In the example below, I've highlighted the name of the journal and date published in blue. The link lists the last names and first initial of the primary research authors. If you click the link it will take you to an abstract (or short summary) of the work. The full articles are typically only available for purchase and run around $20 each. Good news is, you don't need to actually read them, at least not at first. This is just to find the right people to talk to. Articles themselves will likely make no sense to most folks anyway, as they are intended for other academics and clinicians and written in medical-ese.

Bjoraker KJ, Delaney K, Peters C, Krivit W, Shapiro EG.
Long-term outcomes of adaptive functions for children with mucopolysaccharidosis I (Hurler syndrome) treated with hematopoietic stem cell transplantation.
J Dev Behav Pediatr. 2006 Aug;27(4):290-6.
PMID: 16906003 [PubMed - indexed for MEDLINE]

Ayway, open 2-3 of them and see where the authors work (Make sure they are talking about patients, and not rats or pigs or pine trees. Unfortunately, all of the research is lumped together). If there are multiple universities or hospitals listed, which is listed most frequently? If you can't tell, look for the first person listed who is a nurse (look for "RN") and they are most likely located at the primary research institution. If you still can't tell, give the organization a call.

3. Search for clinical trials. This serves the exact same purpose as the literature search. The institutions with active clinical trials are likely at the forefront of research on the condition. Fortunately clinical trials are a huge business, so accessing them is relatively easy. there is a great site: clinicaltrials.gov http://clinicaltrials.gov/ct2/search. Simply type in the condition and scroll through the trials. Select only active or actively recruiting trials. Read through them and search for cutting edge treatments that your diagnosing physician may have mentioned, also look for treatments you've never heard of. They may be the best for you.

In the individual clinical trial description, there should be a name and contact info for the primary investigating physician. Send a brief introductory email (I'll provide the one i used in a separate post).

One quick aside: Medicine and science terms and lingo are foreign to most people. As a result, people are really scared of clinical trials. Don't be. In fact use them as a resource. The term itself sounds rather risky. Rest assured, they are risky, but so is lac of treatment. The FDA and universities have rigorous review boards to ensure that trials are legitimate and work in the best interest of the patient. You are not a lab rat, and will never be treated that way. If you are, that physician will lose his/her license and spend a lot of time in prison.

4. Learn what you can from reputable sites, and note the authors and contributors. Sites like WebMD and Revolution Health (increasingly) provide relevant condition information in a digestible, frequently updated format. It's a good thing to note the contributors and editors of the specific condition page in the event that person is also a research physician. A rather obscure example i can provide comes from my review of the content on the National Marrow Donor Program site for Hurler Syndrome: http://www.marrow.org/PATIENT/Undrstnd_Disease_Treat/Lrn_about_Disease/Metabolic_Storage/Hurler_and_Tx/index.html where Dr. Orchard is the content editor.

5. Take Action: Interview the care team. When you get a response from the research physician, interview him. One very important thing to remember: even though you or your family member is very ill, you are still in control. You are the customer. YOU are interviewing THEM; not vice versa. As I mentioned, clinical trials are big business and these institutions are, in essence, competing for your case. Don't forget that. Have a phone conversation with the primary investigator. Have him distinguish his program from others in the country. Have him discuss outcomes and quality of life.

Also, do your own due diligence and contact multiple facilities. Ask questions and see what "feels" right for you. Who seems to have the best care? Who is more personable? These are important questions to answer prior to a long, expensive, and risky journey. Again, I can provide some general questions to ask in another posting.

So, it doesn't take a genius or hero to find the best care. It takes a couple of hours and the gumption to contact medical professionals and interview them as if they are competing for your business. This isn't disrespectful, it's business. My 'business' goes to the group that provides the best treatment and outcomes, has deep experience with the condition, reduces my workload by managing insurance, providing reference contacts, facilitating schedules and care coordination etc, and treats me with respect.

There is much more to come on what we hope will be a phenomenal experience with Dr. Orchard and the University of Minnesota. So far, they've been incredibly accomodating and extremely professional. We are hopeful now, and they seem to share our hope.

--Big Bro