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Hope for Hasti by Chris Brannigan Hengameh Delfaninejad
from Rarity Life Issue 3
by Rarity Life
HOPE
for HASTI with Chris Brannigan & Hengameh Delfaninejad
Hengameh and Chris met in Dubai
twenty years ago. In those easy early days they could never have imagined the plan life had for them. After relocating to Chris’s home town of Belfast, and shortly after he’d joined the army, they had their first son, followed two years later by another. Finally, they welcomed a much longed for daughter into their home. They called her Hasti, a beautiful hope filled name, which means ‘existence’ in Persian.
Photographs supplied by family
When Hasti was born in December 2011, her parents intuitively felt that something wasn't quite right. Hengameh explains, “She was a bit jittery; she had mottled skin and was smaller than anticipated. There were a few other surprises too but we didn't see anything serious. I was looking at her thinking something is wrong but she’s your child and so you also think no, she is perfect.” “Her milestones all came late, she didn't walk until she was two years of age, and she didn't say anything at all until the age of five. Potty training also took a long time and school lessons seemed to take much longer to sink in than they had with our two boys.”
As with many rare conditions finally receiving a confirmed diagnosis took six years, they had signed her up to the 100,000 Genomes Project and the Diagnosing Developmental Delay Project. One day Chris attended what he thought would be a routine geneticist’s appointment but “then she dropped the bomb… your child has CdLS! And that's it, you know, they gave me some brochures and that was it. I was alone because I didn't know this was going to happen.” After Hasti was eventually diagnosed with Cornelia de Lange Syndrome (CdLS) Chris and Hengameh were left reeling. CdLS “comes with a lot of recognizable phenotypes, that any doctor who had training will pick up on straight away but that didn't happen, because none of the doctors we saw, had any familiarity with CdLS.”
Throughout the difficult times their drive and determination to help their daughter has underpinned their daily lives, with both parents tirelessly seeking answers. It was through their efforts that she was eventually diagnosed and so it was perhaps no surprise that their focus subsequently turned to researching possible cures, or interventions that might improve their daughter’s prognosis. Through this research they became aware of the difference that gene therapy had made to Spinal Muscular Dystrophy (SMA) patients, and they started looking into a similar treatment for CdLS. After attending a rare disease conference Hengameh questioned the scientists in the room, asking why more research was not being done when there appeared to be early signs that certain treatments could help. “One scientist had lunch with me and said, ‘you know, it will come, not for your child, but it will come,’ and I thought it must happen for my child, I will fight for it.”
What is CdLS?
Cornelia de Lange Syndrome (CdLS) is a genetic disorder that is present from birth, and is typically not an inherited condition. It is usually due to an acquired change, or mutation in one of seven important developmental genes at or shortly after conception. CdLS causes a broad range of potential physical, cognitive and medical challenges and it is now known as the CdLS spectrum disorder. The signs of CdLS may be obvious from birth, or even in utero but may equally not be diagnosed until the child is older when it is milder. The occurrence of CdLS is estimated to be 1 in 10,000 live births, but some instances could remain undiagnosed as the outcomes are so variable. Most typically CdLS growth, the skeletal system and causes delayed development, intellectual disability or learning disabilities; behavioural issues with ADHD, anxiety or autistic features. It can also affect the internal body organs including the GI, cardiac, genitourinary and neurologic body systems.
Photo by Will Gonzalez on Unsplash
“Anywhere they had successfully undertaken a gene therapy program, we reached out. We sent so many emails and read every paper on gene therapy for rare diseases. Not everybody came back to us but some invested significant amounts of time into our enquiries. No one said to us, ‘you're barking up the wrong tree,’ they all came back and said, ‘give it a shot.’ It will cost a lot of money, it will take time, and there can be obstacles that are impossible to foresee but it's possible and you can only hit the target if you try.” And so the charity Hope for Hasti was born. Setting up their parent-led charity gave them the opportunity to channel and focus their aim to help not only their daughter, but other CdLS children, through much needed research. They started with a GoFundMe page, and using the power of social media and their existing networks they set out to meet their initial target of 2.5million pounds. They started strong – but then covid-19 struck and everything ground to a halt. “We started to panic, we had bills starting to come in, thousands of pounds worth of invoices. We thought lockdown would end quickly and agreed that at that point we would have to start fundraising immediately!” They questioned what they could do that would really make a difference and what sort of challenge could they try undertake that would truly capture people's imagination. After considering and rejecting lots of ideas Chris decided he would set out to walk from Land’s End to Edinburgh Castle. Barefoot! They hoped that this crazy challenge would help draw attention towards his cause. Likening it to doing a marathon every day, Chris took 35 days to complete his walk of over 700 miles. His feet were often injured, and it was hard going but despite the pain and suffering he finished his task. “Initially it was just me, I had a tent, a sleeping bag, some food, water, and a change of clothes. I hadn’t told anyone about this, I just made a video and Hengameh shared it on social media.”
Fortunately, the media picked up the story, starting with BBC Radio Cornwall, and it snowballed from there. They asked people to offer places for him to pitch his tent, and some even joined him barefooted in his walk. Chris says now that he is not sure he would have completed it without them. “I said at the end of that walk I would never do it again because I was so badly injured. Then last year I ended up doing another barefoot walk. I think towards our fundraising target, we're probably halfway there.” The walks and media attention have helped, but there’s still a great deal of work to do.
Both Chris and Hengameh find it frustrating at times that they feel there is no option but for them as a family to try to drive forwards the change they wish to see. That it is them who are striving to fund the research and the trial. “The way it's all set up for rare diseases, it's not fair. It seems the pharmaceutical companies and government think that it’s not worth the investment. At the very least, we as rare communities need to come together a bit more.” They also recognise that a large part of their success is the fact that although they run the charity, they do so on a voluntary basis, so that “the funds we raise can go directly towards research. We don't pay ourselves, we don't pay anybody. We also pay the cost of running the charity, and we have to maintain our jobs to do that. This means we have to work all hours; it puts a lot of pressure on us as a family and there have been so many times that we have been at breaking point.” What they have undertaken is no small task. On top of trying to run a research charity they both have busy jobs and of course their young family to raise. “When we started, we thought about what our chances were. We sat down and had a discussion about whether we were going to do it or not, already living busy lives and now wanting to run a charity. But we always said that we wouldn't be able to live with ourselves if we didn’t try. Now, we're two and a half years down the line and we are running a proof of concept for the gene therapy. The results are due before Christmas and we're hopeful that they will tell us we've got a treatment that will work, that will transform the lives of kids like Hasti.”
