Rare diseases often go undiagnosed, which leads to a lack of treatment and support for those affected by them. People with acromegaly, a rare hormonal disorder, have called for change. Working in combination with the NGO Ukrainian Pituitary Foundation, these patients have demanded that a registry of people with rare diseases is created in order to better diagnosis, treatment, and awareness for these conditions. They believe that this registry will better the lives of those who have already been diagnosed with a rare disease and those who are still looking for a diagnosis.
Acromegaly is a hormone disorder that results from an excess of growth hormone. Benign tumors form on the pituitary gland, which results in the overproduction of this hormone. It is characterized by abnormal growth and affects 60 out of every one million people.
Symptoms progress very slowly and begin with abnormal growth in the appendages. Over time, distinct features will become noticeable, such as an enlarged nasal bone, a protruding lower jaw, and a protruding brow. Other features include thick and oily skin, excessive sweating, achy joints, enlarged facial features, and enlarged organs.
A diagnosis may be difficult to find, as the symptoms of this condition are not noticeable in the early stages. Patients often go a long time without a diagnosis or are misdiagnosed. Doctors will use blood tests and MRIs to find the correct diagnosis. Once they are confirmed to have acromegaly, treatment consists of surgery to remove the tumors. If this procedure is unsuccessful, medications will be prescribed, such as somatostatin analogs (SSAs), GH receptor antagonists (GHRAs), and dopamine agonists.
A Call for a Rare Disease Registry
People affected by acromegaly called for the creation of a registry of those with rare diseases during a press conference held by Interfax-Ukraine News Agency. They not only demanded this registry, but they have asked for a patient pathway and a specific program for acromegaly, which would come with its own budget.
Acromegaly tends to go undiagnosed, and only 844 people are registered as having it in Ukraine. It is this fact that has ignited the demand for more awareness, better funding, more training for doctors, and more access to treatment. The registry and program would help to provide a framework for diagnosis, which not only betters medicine as a whole but the lives of those living without a diagnosis as well.
Not only would a registry help the world of healthcare, but it would create a community for those affected by acromegaly. They could actively seek out others with the same condition. Being diagnosed with a rare disease can be scary or confusing, but the support from a community can make it easier.
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