I have come across many people with different perspective and in different fields expressing the need for improving the diagnostic process for those experiencing symptoms and have no diagnosis. There are differences in the way each are trying to improve the process. I see great potential in many of these ideas and efforts. Though in my opinion it isn’t just one of these that will make the changes we need to improve the diagnostic process for all those experiencing a difficult to diagnosis disease.
Many of the ideas and efforts stem from specific experiences or specific challenges that only make up a certain portion of getting a proper diagnosis. It would be beneficial to bring these experiences together to build a strong infrastructure that focuses on every piece of the diagnostic process. While I realize this would obviously be a task that would have great challenges, it is very much needed. Being a leader in an advocacy organization and a parent, I would like to see all these things come together today. But in reality I know this type of change would take time. I’m just grateful to see so many people thinking and working on the challenges of the diagnostic process.
There are many challenges faced by doctors and patients when dealing with a lack of diagnosis, a few are; matching signs and symptoms with a disease, connecting undiagnosed cases that are similar, connecting undiagnosed cases with the right doctor, and patients having multiple doctors who never discuss the case together. Below are some of the efforts I have come across and a summary of what I see as the focused challenge and what I see the challenges that may be encountered by the particular effort or idea.
POSSUM is used by doctors to aide them in making a diagnosis and get information on syndromes. They can type in a patient’s signs and symptoms and get potential diagnoses and then can follow a link to OMIM. This aides in the challenge of matching varied signs and symptoms with a diagnosis by allowing the search of multiple signs and symptoms. The difficulties are with the cost and the fact that not all doctors are using this. Another issue is it doesn’t have the capabilities of adding undiagnosed patient’s signs and symptoms to include in the database to run future searches. This is a great tool and certainly can aid in finding a diagnosis for patients.
Orphanet has a great internet tool that you can search multiple signs at one time to come up with possible diagnoses. This has the same challenge focus as POSSUM. There is no fee for use of this feature but doesn’t include pictures of various features that one may present with. This doesn’t allow for addition of undiagnosed cases as well.
MyDaughtersDNA in my understanding was created with the intention of having a place to post difficult to diagnosis cases and allow comments to be made with possible suggestions. So the focused challenge seems to be connecting cases with the right people who may have the information to help in fostering a diagnosis. The difficulty with this is getting the cases to be posted it is often parents or patients who are seeking out places to post their own case. They often don’t have the knowledge about how to best describe the case in a way that professionals will understand. Though the idea of having professionals post hard to diagnosis cases in the hopes of another professional with a similar case would see it, would be greatly beneficial.
Undiagnosed Disease Program brings multiple specialists in different fields together to discuss undiagnosed cases and potentially bring them to the Clinical Center of the NIH for a week of examinations and tests. The hope is to either find a diagnosis or to find new diseases. The focused challenge would be bringing multiple specialists together per case to aide in a diagnosis or new disease. A few issues are that it is only located in one area of the country and they can only accepted a limited number of cases per year. This is a new program so I’m certain we will see some growth in the years to come.
Hyoumanity is working on bringing awareness to situations that remain undiagnosed or misdiagnosed. They also want to create a product that will improve the process and leave less people undiagnosed and misdiagnosed. It isn’t yet clear to me what it is that their product will do, so I’m not sure what the focused challenge would be.
INOD has a very interesting concept of database by involving disease specific organizations in collecting signs and symptoms of members rather than medical references, which lists classic symptoms. The focused challenge is connecting signs and symptoms with diseases. The difficulty may be in getting enough involvement from a great deal of disease specific organization. It may also not be easy to find enough patients with any specific rare disease. Another challenge that may be faced is with having varied symptoms with the same diagnosis, there will be more symptoms with the specific disease which may cause more over lap. Over all this may be a good way to approach the challenge. They are also interested in see that a new specialty be created in the field of medical diagnosis. This would seem to aide in the challenge of connecting patients with the right doctor. There would be challenges in creating this as well.
SWAN USA is very interested in seeing some type of registry for those who have signs and symptoms without a diagnosis. We think of the cancer registry and how effective it is and see how such a system for undiagnosed patients could benefit everyone involved in the care of patients who are undiagnosed. The focused challenge would be connecting cases and likely linking patients with the right doctor. There would be many difficulties in getting this registry idea going, which brings me to the point of this post.
How can we make the most of all of these special projects or ideas? It would be greatly beneficial to bring the people, who are interested in making changes, together to discuss these types of ideas and efforts. Let’s talk about the challenges and difficulties and ultimately come up with a fabulous plan involving all of these things and maybe add a few to make the changes that we all desire. Instead of turning several small wheels, we can turn one very large wheel. Many individuals living with an undiagnosed disease need help sooner than later, coming together will make the most of our time.
I'm sure there are more efforts that are lingering around, these are the ones I have that have caught my eye in the years of searching.
1 comment:
This is great!
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