“Hi, I'm Marwa Sadeek. I'm 38, and I live in London, UK. I work as a medical interpreter and hold a degree in psychology. I have two beautiful girls, one is six years old, and the other is 12- years old. I am a very keen tennis player and I enjoy reading whenever I get the chance, as when you have younger children you tend to run around with their hobbies rather than your hobbies.
I was diagnosed with HoFH (homozygous familial hypercholesterolaemia) when I was three years old. My mother noticed that I had symptoms on my eyelids, yellowish deposits. They ran tests in Great Ormond Street and that's when they officially diagnosed me with HoFH.
Straight away we started with medication and when I turned 9, we started with plasma exchange, which is very similar to LDL-apheresis and to this day I have this treatment.
Living with HoFH has its challenges and at every stage in life, I found the challenges are very similar. As a start, when I was in school, some schools didn't understand that I had to attend at least one day a week at the hospital to have my treatment, and that could affect my schoolwork.
As an adult finding a job and explaining to them that I have a certain medical condition, which is very rare can be hard, as not a lot of people are aware of what it is. When you say you have high cholesterol, a lot of the population has high cholesterol, but obviously, with HoFH it's much more serious. I had some of the managers gave me a very difficult time regarding taking time off work to attend my treatment, especially as well during my pregnancy when I had to attend extra appointments to make sure that I was okay through the pregnancy. My employee was not very happy with that.
Other than problems at work and school, you must understand that when you meet a potential partner, things might get serious. You have to explain your diagnosis and what impact it could have on family life. For example, when I met my partner, I explained to him that in order for us to have children or the possibility of having children, he had to be tested if he has FH because I don't want my children to, have HoFH. I know they will have FH, but if he does have the gene too, it means they will have HoFH.
So, it impacts on your personal life, your professional life. And as well, sometimes with friendships, you have to explain, that I have limited places to go eat. I need to make sure that the restaurant we go to has reasonably low-fat options that I can eat. And the problem is with HoFH, you could look absolutely fine physically. It doesn't show any physical symptoms unless it's quite bad. So, a lot of people tell you, but you look healthy. You're fine, you're slim, you're young. And that's because there isn't any awareness.
There is not much awareness of HoFH. It's not a known condition. Even in terms of getting medical insurance, they don't look at you as an individual case. As soon as you mention you have HoFH, you either get refused or the premium is extremely high. In my case, I am not a cardiac patient. I have high cholesterol. However, I have no cardiac problems, but unfortunately, there is no option to say, yes, I am HoFH, but I don't have any risk of, my risk of cardiac problems is quite low because I was diagnosed at a very young age.
My hope for the future of HoFH is that there will be some sort of testing for babies and early diagnosis. I can't push it enough or say it enough, the earlier the diagnosis the better outcome for a future with fewer cardiac problems. I'm a living example, I've been very lucky to be treated in the right hospitals with the right doctors and I have an amazing mother who actually fought for me to get to the right places.
I'm a mother of two I was always told that I would never be a mom with my condition. I am a miracle in a way, I hate to say it but what happened to me is a few years ago if you read about our condition we were told we wouldn't live you know over the age of 30, 40 and now with the new medication that's coming out with the technology that's happening in the medical field, I can dare to dream that I'll have a face full of wrinkles and white hair and I'll hopefully one day see my grandchildren. So please join us on the 4th of May to raise awareness of HoFH.”
Let us know if this story how this story affected you. Are you suspecting HoFH in your family? If you need additional information, please contact Emma@fheurope.org.
Are you ready to unite for HoFH Awareness?
The launch of the first-ever HoFH Awareness Day on May the 4th is approaching with the speed of light and we've been working tirelessly to prepare for this important event. From educational resources to community outreach initiatives, we are committed to making HoFH Awareness Day a resounding success.
🌎 But we can't and don’t want to do it alone.
United with the World Heart Federation, the International Atherosclerosis Society, the European Atherosclerosis Society, the Family Heart Foundation and the Global Heart Hub, we now INVITE YOU to get ready to channel your inner Jedi and unite against the dark side of HoFH.
🌠 REGISTER and JOIN our Galaxy online meeting and find out more about what the first-ever HoFH Awareness Day is all about and how you can contribute, participate, get empowered or simply help us spread the word.
WHEN?
🚀 Here’s what awaits you in our campaign kick-off online meeting:
The meeting will be led by our super trio Emma Print, FHEF Community Engagement Manager, Chyrel Lichaa, HoFH Galactic Ambassador and Project Manager and Elsie Evans, FHEF Ambassador Programme Project Manager.
As you may know, HoFH (Homozygous Familial Hypercholesterolaemia) affects individuals from birth and significantly increases the risk of heart disease already early in life. Despite its severity and the urgency to act, HoFH remains largely underdiagnosed and misunderstood. Even more surprisingly as HoFH occurs in families affected with FH, a very common inherited high cholesterol disorder.
That's why it's crucial for us to come together to raise awareness and support those living with this condition. And for that reason, we have chosen a special day and a special slogan - Unite for HoFH Awareness: One Galaxy, One Heart!
HoFH Awareness Day 2024 launch activities are supported by grant funding from Arrowhead Pharmaceuticals, Chiesi and Ultragenyx.
On 14th April, our youngest patient ambassador, Elisete Poobus (6 years old), along with her family, was invited to the 30th Anniversary conference of the Estonian Phenylketonuria Association, to provide an insight into living with FCS (Familial Chylomicronaemia Syndrome).
Elisete’s mother, Teevi Poobus, gave a short presentation explaining how Elisete was first diagnosed and how they, as a family, dealt with this news. She also spoke about the symptoms associated with FCS, and the strict diet Elisete must follow. Patients with FCS are restricted to a maximum of 20g of fat per day, while for Elisete at 6years old, it’s just 5g!!! This includes ‘good’ fats such as nuts, seeds, avocado, olive oil.
During her presentation, Teevi also gave huge thanks to the healthcare professionals in the hospital that treat Elisete and those who have supported her family on this journey. Teevi said that “although it is Elisete with the diagnosis, it feels like it is my own too”.
There is no patient organisation in Estonia for people with FCS, so the family struggled to find support and had to deal with government bureaucracy alone in an effort to find help.
In 2023 Teevi found FH Europe Foundation, which already had a supportive group of people across Europe and the US living with FCS. In November Teevi and Elisete were invited to Amsterdam for the FH Europe Foundation annual conference, where they were able to unite with other FCS patients. Although Elisete was the youngest among them, she was comfortable with all the attention and rocked her moves on the dance floor!
The positive outcome of Elisete's and her mum's advocacy work at the April meeting has been an offer to help the Poobus family get FCS recognised in Estonia as a condition that needed urgent support. Fingers crossed it works out this time!
Prepared by : Teevi Poobus, FCS Ambassador from Estonia