According to a recent article from Donegal Daily, patients with hereditary amyloidosis in Donegal, Ireland created a film on the condition that has been plaguing parts of Ireland for ages.
Hereditary Amyloidosis
Hereditary ATTR (hATTR) amyloidosis is a familial subtype of amyloidosis. hATTR amyloidosis is an inherited genetic disease affecting the nervous system and the heart.
The genetic mutation that causes hereditary ATTR amyloidosis produces a protein that forms into an abnormal shape. These abnormal “misfolded” proteins can be deposited and cluster in the body’s nerves and organs, causing complications.
There are three categories of ATTR amyloidosis:
- Familial amyloid cardiomyopathy (FAC)
- Familial amyloid polyneuropathy (FAP)
- Senile systemic amyloidosis, also knows as wild-type ATTR amyloidosis
Symptoms:
For each patient, the symptoms will depend on which organs are affected by the protein deposits:
Heart
- Nausea
- Weight loss
- Insomnia
- Progressive fatigue
- Dizziness
- Shortness of breath
- Leg swelling
- Palpitations and abnormal heart rhythms (atrial fibrillation)
- Chest pains
Nervous System
- Peripheral neuropathy
- Sensorimotor impairment
- Autonomic neuropathy
Digestive System
- Nausea
- Diarrhea or constipation
- Bladder control issues
- Weight loss
- Loss of appetite or a feeling of fullness after eating small amounts
Kidneys
- Nephrotic syndrome (excess protein in the urine)
- Swelling of legs, belly, arms, and lungs
- Renal
How ‘Donegal Amy’ Came to Be
The north west Donegal coastline from Rosses, Gweedore, Cloughaneely, Letterkenny, and Inishowen have been effected the most by hereditary amyloidosis. That is why the disease has been nicknamed ‘Donegal Amy’.
In the past, the disease was progressive, untreatable, and it often led to death. However, now there is access to gene silencing treatment which is life-saving for patients with hereditary amyloidosis.
The Film
The film was created in the hopes of educating others about the disease. It shows the grief and hope that can come along with a diagnosis for yourself or for your loved ones. A number of participants in the film have lost loved ones to the disease, and you will hear about their grief. The creation of the film is also meant to educate in the hopes of increasing the chances of an early diagnosis since there is a DNA test that can tell if a person has the variant gene.
The film pushes anyone that suspects they’re impacted by hereditary amyloidosis to contact their doctor and get a genetic test. All they need to do is provide a blood sample.
If you would like to watch the film, here is the link: https://youtu.be/5mWCxhTqfLM
