Why We Need the NHS to Fund Our Rare Disease Treatment
Upon seeing an individual with lipodystrophy, you will be able to tell that something is amiss.
Since lipodystrophy is a rare disease caused by a loss of fat cells, the clearest symptom is a “different” physical appearance. Some of those struggling with lipodystrophy may have a complete, generalized loss of subcutaneous fat, while others may have a partial loss in one part of the body and a surplus in an unusual site, such as the neck and face. The body of someone with lipodystrophy presents a clear disorder, a very apparent abnormality. Underneath our different, but beautiful appearances, there are many more impediments than what meets the eye.
Fat cells, whether you like them or not, do an abundance of good. You may wonder, “If patients with lipodystrophy have no fat cells, then where does all of the nutritional fat go?” That is a major concern—when you do not have fat cells for storage, the fat goes directly to the organs and gets packed around the liver and muscles. This causes a risk of liver disease and liver failure in lipodystrophy patients.
Additionally, the deficiency of fat cells can cause complications metabolically related to those of obesity and fatty liver disease. Without fat cells in our bodies, we are unable to produce and release a hormone called leptin (has a nice ring to it, doesn’t it?) and we cannot control many crucial metabolic processes, which can lead to drastic complications. These complications may include high triglycerides, high blood sugar, and insulin resistance, indicative of diabetes. Even more concerning is the fact that the complications of those living with lipodystrophy are more difficult to manage than those living with diabetes alone, as the metabolic complications occur earlier with lipodystrophy and tend to be more severe.
Yet another symptom of living without leptin (yes, there sure are a lot of them) is an increased appetite. Leptin has the crucial job of telling our brains when we are satiated. But without leptin, our brain does not know when to tell our mouths to stop chewing and our bellies to stop grumbling. Many patients with lipodystrophy have had to live with painful, miserable, insatiable hunger that does not diminish no matter how many burgers you order with a side of fries. Other implications of life without leptin include fertility problems and extreme fatigue.
Life with lipodystrophy is so much more than just a physical abnormality—it can have
deadly outcomes and severely decrease one’s quality of life. Fortunately, there is magic in this world. That magic is Metreleptin.
How do you say it again? Ah! Metreleptin! Metreleptin is a recombinant hormone to replace the missing leptin and acts as a replacement therapy. Why is it magic? Because it has saved and enhanced the lives of so many living with lipodystrophy. With this treatment, triglyceride levels move back to their normal range, the organs clear themselves of the fat that was packed around them, and the brain can understand hunger signals. Metreleptin has truly enhanced the lives of many patients who have suffered from the consequences of lipodystrophy, but are now thriving.
There is, however, a concern. The National Institute for Health and Care Excellence (NICE), an organization that makes recommendations about what treatments should be funded on the NHS – the National Health Service in the UK – has recently decided not to recommend Metreleptin to the NHS for funding.
Don’t lose hope, though—the lipodystrophy community is working to send an appeal to NICE in hopes that they will still choose to recommend Metreleptin to the NHS. If this fails, an appeal may be sent directly to the NHS to approve Metreleptin.
Rebecca Sanders, one of the patient advocates working on this appeal, has been advocating for lipodystrophy since she was first diagnosed in 2000. She was diagnosed once she was found to have extremely elevated insulin levels, high testosterone, and polycystic ovaries and was sent to her endocrinologist who, miraculously, had heard of the rare disease. After her diagnosis of familial partial lipodystrophy—which was a remarkably quick and easy process, and a rare occurrence for those in the lipodystrophy community, who often wait five to seven years for a proper diagnosis—she was able to contact other patients with lipodystrophy.
In 2017, Lipodystrophy UK, an official charity, was founded and made it easier to connect patients with one another and with medical professionals. By making a significant social media presence, many individuals were able to find a diagnosis. Rebecca’s impact has proven that patients with lipodystrophy are not fighting the disorder alone. “There are definitely things we can do to support ourselves and each other,” she states. With NICE not approving Metreleptin, this statement applies now more than ever.
NICE decided not to approve Metreleptin because there was inadequate evidence that Metreleptin is an effectual alternative for leptin. This ‘inadequate evidence’ could be due to faulty studies, a shortage of participants in these studies, or low response in numbers simply because the condition is so rare and there are few diagnosed patients.
Hope is not lost, though: patients can still continue to advocate, and it is still possible to support patients with lipodystrophy. There are essentially three things that individuals can do to help advocate for Metreleptin to be approved by the NHS:
- Whether you are a patient with lipodystrophy or a loved one, continue to advocate for lipodystrophy. Share videos of yourselves talking about the effects of lipodystrophy and how Metreleptin has helped you. Write blogs, share stories and insights, and utilize social media utilizing the hashtag #leptin4lipodystrophy.
- Help elevate the organizations doing important work, like Lipodystrophy UK. If you do not have lipodystrophy, watch our videos and share our page to teach the world who we are.
- If you live in the UK, write to your MP and lobby them to champion the cause in parliament. A template can be found here.
“I have been on leptin for 11 years and I am terrified of going back to a life pre-leptin. It is very difficult to contemplate what that will mean in terms of lifelong health prospects. Life without Metreleptin would lead to devastating results. This is not talking about the quality of life–it is a life or death issue,” says Rebecca.
If the NHS rejects the appeal to fund leptin, patients who are currently on Metreleptin will be forced to stop medication, and those who are not currently on Metreleptin will never get the
chance. And early intervention is crucial to avoid severe complications, many of which have already been listed.
I said above that Metreleptin is magic. Often, Metreleptin does feel like magic. It has improved and even saved the lives of many — myself and Rebecca included. But Metreleptin is not magic: it is science. It is a real, practical, and crucial treatment to those of us living with lipodystrophy.
If NICE is unable to recognize that, then it is up to the community to appeal to the NHS and ensure that those who need Metreleptin to survive are able to obtain it. So please, check out the three ways you can help above and help us make Metreleptin an accepted, funded treatment in the UK. We all deserve a chance to live our best lives with lipodystrophy.
In sixth grade, I was diagnosed with acquired generalized lipodystrophy. Though born with a normal, chubby appearance, I had lost most of my body fat as I reached middle school, and I was fortunate enough to have found a diagnosis at a young age. Since my diagnosis, and my rediagnosis of Atypical Progeroid Lipodystrophy, I have learned a lot about living with a rare disease and the struggle of body image that many people with a rare disease that affects their appearances may feel. Four years ago I began to write my story on my blog, The Skinny Girl (myskinnystory.blogspot.com), and my goal of educating the world and advocating for my medical condition is far from complete.
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