A lot of conditions or disabilities have really good patient-driven solutions that were developed over the last 20 to 30 years. Major advances in Cancer and HIV/Aids have reduced the impact of those conditions and resulted in new, less invasive treatments, increased survival rates and medications with reduced side-effects.
Numerous other disorders can boast similar accomplishments, such as the advances made in CMT1A1 (Charcot Marie Tooth), however it seems that the scientific advances and investments have simply not been available to patients affected by the condition Clubfoot (Congenital Talipes Equinovarus or CTEV). For unknown reasons the research and knowledge just did not develop on par with other disorders, and large research projects have been omitted for this orthopedic birth defect. Since the early 2000's it has been known that CTEV is a genetic disorder, but extensive research has been elusive, and contributions limited to a handful of researchers interested in this field.
Clubfoot (CTEV) affects more people on earth than any other disability, therefore the lack of attention to its origin has been disappointing. With its 1-7 out of 500-1000 cases it is bigger than all Cancers, affects more people's quality of life than any other disorder, yet it is still largely unknown, unheard off by most people. There is also many misconceptions in literature that claims it is easily fixed, cured or treatable and therefore the impression has been created that the disorder does not deserve much attention or research. Therefore, it is not surprising that treatments have not advanced or changed much in the last 100 years. Instead of bandages, only casts are being used and a brace with a bar that has been revamped many times that does not address all cases effectively.
Surgery usually fails also per scientific literature and speeds up disfunction with early arthritis changes confirmed leading to permanent disability for patients; hence many attempt to avoid surgeries all together. There is no cure yet and furthermore the condition is also influenced or complicated by over 400 other co-morbidities, but these are vaguely described in published literature. All these conditions are considered very serious disabilities, for example Spina Bifida, Tethered Spinal Cord, Arthrogryposis and various Muscular Dystrophy type disorders. Permanent disability after the teen years seems inevitable for many after relapses occur from both non-invasive or invasive therapies.
Single medical professionals have made some advances, but they suffer an advocacy that tends to shoot down any invention or product or mention of genetic impacts. This advocacy prefers to brush it under the carpet, claims it is fixed and cured and refuses to acknowledge that co-morbidities are role-players to be considered as important factors that explains the discomfort in brace options.
Selecting a treatment course today is daunting to say the least. In many countries only the most basic treatment and bracing is available with the most basic of brace options. A treatment standard may be good, but it cannot possibly address or be successful for each case type which still needs to be studied separately to be fully understood.
Since the underlying complexities vary vastly, and misdiagnosis is common, treatment should be more a-la-cart to address each case based on its unique complexities and time frame of relapse tendency but sadly such studies have not been completed yet, let alone the study of cases with multiple co-morbidities.
That said, between 2016-2020 literature improved suddenly with many new topics that the CRF suggested in the past being addressed in new studies. In 2018 Löof et al published the first study that positively identify the presence of neurological disorders amongst the ICTEV patient group.
Now, in 2020 the topics between papers vary widely with less repetition of the same topic. All of this is a delight to see. Our efforts to combine family history with literature and direct crowd sourced feedback paid off big time as we were able to suggest many literature gaps to the CDC and other researchers. What we see now is the fruit of this effort led by the CRF in the non-profit arena.
When we started the CRF we already knew that there were lots of work to be done. What we noticed was that there was a hammer that was used to treat every single case the same. Indeed, Maslow said long ago that “It is tempting, if the only tool you have is a hammer, to treat everything as if it were a nail.” However, we did not find the treatment to be the best course of action in all cases. There are cases that never respond to the standard method both in literature and the crowd sourced data we obtained. Not only is patient feedback important in terms of learning about successful outcomes, but it also provides evidence of failures and complexities.
Why indeed should treatments be patient driven?
Well, for one thing the recording of family histories in the medical field has been somewhat dismal and male patient histories are very absent. Doctors still record everything about a mother and her expected baby, but the father's medical history is largely ignored or never documented, leaving big gaps in medical history. Some doctors outright dismiss family history or past patient feedback. In Clubfoot (CTEV) this has caused a complete misunderstanding of the nature of the condition and resulted in dismal treatment options for older patients. In fact, treatment options are almost non-existent for aging clubfoot patients, even in the first world economies.
In addition to the above, knowing more might decrease the failure rate of treatments. Since the internet started, people started to share their medical histories with one another, mostly in the hope of finding someone else that suffers the same fate or similarity in symptoms. Online groups these days share the latest scientific information and personal narratives of their experiences and most remarkably, sometimes as a natural consequence of discussions, develop new information and aggregate knowledge that researchers cannot ignore.
Patients are no longer passive recipients of care, but active crucial team members of the treatment team, involved in the decision-making process and they expect to be involved. More-over, patients demonstrate daily that they are knowledgeable and that they can explain research publications to their peers, and they get involved in treatment surveillance. Patient-driven research is a bottom-up model and a model we like! Likewise, research should not be dictated or directed from the top down only and anecdotal statements without any detailed analysis and documentation, should not be published or even mentioned if it cannot be supported with appropriate high quality-evidence.
Anecdotal statements without enough research or evidence creates the impression inevitably that patient experiences are worthless to medical professionals or just simply viewed as unimportant. With a top-down approach, patients may stop relying on their doctors to make decisions for them and are less likely to comply with instructions or make changes to ensure their own wellness.
Patient engagement determines success in research! If medical practitioner driven solutions is opposing patient experiences and feedback, as is often found in research patient groups online, the condition faces reduced effective research opportunities in the future, as patient participation will be dismal.
Successful research is only achieved when all the role-players work together to broaden the assumptions made and the scope of projects in general. More effort needs to be made by medical practitioners to address the divide caused by the past top-down approach, past anecdotal statements without substance or proof, that is heavily present in Clubfoot management in general. The quality of assumptions made is equally important to the patient population. For example, many parents are told that one of the treatments will 'cure' the condition. Statements like that, used in media, really irks adult patients as they feel that has cost them appropriate treatment options that could have been developed long ago, if it was not for these statements that impacts interest in further research efforts.
Various online medical groups/communities have established tissue and specimen banks, formed clinical trial networks, and raised significant money for research that often cannot secure funding. The very existence of the Clubfoot Research Foundation and its forums opens up new opportunities for researchers. Some groups even publish guidelines eventually, driving treatment towards new solutions. In the Research Foundation latest education effort, there are reasons given for a new name and a new definition that is needed to drive knowledge forward.
Major genetic research still has to start, and genetic databases have started to grow but fairly slowly. The CRF is hopeful that it will play a role in finding funding for more research projects which in turn may just end up reducing the permanent disability rate present in CTEV and other related birth defects.
References:
https://www.ncbi.nlm.nih.gov/pubmed/16548400
http://www.aestheticadvantage.com/pdf/dr-long-2010-Inside-TO-V6N10-7th.pdf
http://www.medscape.com/viewarticle/713872
V.1 Published June 2, 2017, V.2 Updated Sep 17, 2022, V. 3 June 23, 2024