Sehrish's story
Sehrish is the first patient to receive new life-saving treatment for Homozygous FH
At age 27, Sehrish was the first patient to receive evinacumab at Hammersmith Hospital. It's a new life-saving treatment for homozygous FH or HoFH. It speeds up the breakdown of fats in the blood and lowers cholesterol and triglycerides. Sehrish and her family have been through a long and arduous journey to get to where they are today. Sehrish is gradually improving and able to walk for 5-10 minutes a day. She told us her moving story:
It all started when Sehrish was 4 years old and living in a remote village in the Punjab region of Pakistan. Her father, a homeopathic doctor, requested a cholesterol test for Sehrish because she had xanthomas on her knees which were also present in his brothers and sister. Sehrish’s three paternal uncles had died in their twenties and thirties due to heart attacks, but their family was unaware of the cause of their death which was revealed later on when Sehrish’s paternal aunt was diagnosed with FH. Later, Sehrish’s father was also diagnosed with FH.
When Sehrish was tested at age 4, her cholesterol was a shocking 24 mmol/L. She and her brother Musharraf were diagnosed with homozygous FH (HoFH) as they had inherited the altered gene from both their father and mother. They were prescribed statins in childhood (see below for more details about HoFH).
In her late teens, Sehrish was in the 9th semester of her Law Degree when her health plummeted with severe symptoms of chest pain and shortness of breath. She had to drop out. She was diagnosed with functionally bicuspid aortic valve along with severe stenosis (narrowing or obstruction) of the aortic valve. She was having moderate to severe regurgitation (back flow of blood). Many people get aortic stenosis but in her case, the size of the aortic annulus (fibrous ring to the front and right of the aortic valve) was really small at 14mm instead of 19 mm.
In Pakistan, there are no treatments available (apart from statins) for a teenager who needs complex surgical procedures of aortic valve replacement, lipoprotein apheresis (blood fat dialysis) and other medications for HoFH. Her 12 year brother was also seriously ill due to HoFH. Sehrish protested and eventually took her case to the Supreme Court of Pakistan. The case went in her favour, but unfortunately the government could not afford the necessary treatment.
Tragically, Sehrish’s brother who suffered multiple episodes of angina passed away with myocardial infarction (a type of heart attack) at the age of 12 due to unavailable treatment. In desperation, her father sought medical help in UAE, but they were unable to fit a new aortic valve in someone so young for legal reasons. Time was precious and Sehrish’s life was at risk. She used her ingenuity to research medical treatment in Canada and the UK. She posted about her situation on social media. The father of a child with homozygous FH in the UK told her about their treatment in London. She contacted several London hospitals and one responded. In a phone consultation, the doctor explained that her condition would not stop and that she needed a mechanical valve.
There was no other option. Her father used his life savings bring his family to the UK. Sehrish had emergency episodes which meant she had to be admitted to hospital. She underwent an aortic valve replacement. Later she had open heart surgery to construct large size aortic annulus to fit a mechanical valve of 19mm as well as aortic root enlargement by grafting a patch to enlarge the aortic root. Her surgeon also attempted to do bypass grafting of the coronary arteries, but due to extensive calcification at the origin of coronary arteries it was risky to fix new grafts, and his attempt to do bypass operation failed as it was too risky for Sehrish’s life. Soon after surgery, she developed complications. She had to go through angioplasty after 24 hours of open heart surgery. She had three stents fitted to improve the blood flow in her artery. Things improved a little and Sehrish could sit up for 15 minutes at a time. After a month, she was referred to the Hammersmith Hospital for weekly lipoprotein apheresis, injections, high dose statins, blood thinners and a vasodilator to control her heart rate. At the same time, her father was also treated for his FH at another hospital.
In January 2025, Sehrish received her first infusion of evinacumab. She still has extreme exhaustion and shortness of breath on physical activity , but her cholesterol is now down to 4.5 mmol/L. Her health will gradually improve. She dreams that one day she will finish her law degree and practice law. In her words:
‘'I am so grateful to Hammersmith Hospital and the NHS for my treatment. I am telling my story because I want to spread awareness about FH and HoFH so that families can save their loved ones. HEART UK is doing a great job of raising awareness of FH, advocating early detection and saving lives in the UK. When my health has improved, I hope to join the fight for families with FH. Many families in Pakistan are too poor to access medical treatment. I am one of the lucky ones’'.
You can help children, young people and young adults like Sehrish in the UK by making a donation today.