My name is Chris Brannigan and Hasti is my daughter, she has just turned 8 years old and she dreams of being a chef and a dancer. Hasti however has a rare genetic disease, Cornelia de Lange Syndrome (CdLS). CdLS is characterised by reduced growth, global developmental delay, feeding problems, speech and language difficulties hearing problems and, in many cases, limb abnormalities, but it is rare for children with CdLS to become adults who live independent lives, often needing round the clock care for their entire lives. No cure or treatments exist for this terrible disease which occurs in just one in every 30,000 live births, but we are committed to change that so that all children with CdLS, both now and in the future, can enjoy better lives. But to do that, we need your help. We just need £400,000 to pay for the research to create a treatment for this disease which has already started with the Jackson Laboratory in the United States. The clinical trials that will follow, will cost over £2,000,000.
Hasti was born in December 2011. She was born underweight despite being born full term and there was no questioning that she looked different from other babies. We could sense from there first few moments with her in our arms, that all was not well with her.
In the initial weeks following her birth, her challenges began to become clear. Hasti refused all attempts to feed her. She wouldn't breast feed, she wouldn't drink form the bottle, we could only get her to feed while driving in the car initially but this too soon stopped. We found out later that this was due to an imperfect swallow mechanism causing her to frequently choke on her milk and severe acid reflux which was causing her a huge amount of pain and stopped her breathing for short, terrifying periods. Lots of hospital stays and feeding through a nasal tube followed.
In April of 2012 I deployed to Afghanistan on operations, leaving my wife at home to cope with these problems and two other boys, at that time aged four and two. I returned home early from Afghanistan when Hasti was hospitalised over a longer period. The hospital wanted to operate on Hasti to fit her with a feeding tube straight to her stomach, a decision from which we knew there would be no turning back. A decision which would have impacted on her ability to talk amongst other things. We decided against the medical advice and my wife fed her the only time she could; when she slept. Often just a few drops at a time with a syringe; backbreaking work that lasted for a year.
Hasti also had extreme texture aversion. She wouldn't put toys in her mouth, she often wouldn't even pick them up. She didn't take her first steps until she was almost two years old and didn't speak her first word until she was over three. She was, and still is, noticeably smaller than other children her age as she has a growth hormone deficiency which is now treated with daily injections but will still leave her very short.
The day we received the diagnosis for CdLS was the beginning of the worst period of all our lives. I had begun the day thinking I would take Hasti to what I thought would be a routine appointment after which we had planned to go camping. The appointment was not routine. The doctor told me a review of her genome confirmed she has the rare genetic syndrome CdLS, which is was characterised by a whole list of problems; cardiac, auditory, growth, memory, speech, language, mutism, seizures. The bottom fell from my world and I drove home trying not to cry in front of Hasti who didn't know what was going on. I knew then that I have to do everything I can to save her from this fate.
The future isn't bright; Hasti has a rare form of this already rare disease, a dysfunctional HDAC8 gene discovered only a few years ago, little is known about how this will affect her in the future. Some older children with the same diagnosis are reported to have suffered mental regression, developing seizures starting in the early teenage years and mutism. Beyond that could be worse still, but no one knows and we fear the worst. We have already spent thousands of pounds on tutors and therapists to give her every chance and spent months of our lives fighting the system to get her the education and medical care she deserves.
As there are currently no treatments for CdLS, we have decided that we need to fight for that too. Hasti has been lucky and has made steady improvements but we don't know when the tide will turn for her. We are commissioning research into a gene therapy for CdLS that will benefit those currently suffering with this disease and the children who will receive the diagnosis in the future. Don't let this disease rob anyone else of the life they deserve.
1. Make a donation if you can, even the smallest donations will make a difference.
2. Share this link via social media with friends and family, make it viral.
3. Like our facebook page - fb.me/HopeforHasti
WHAT WILL YOUR MONEY BE USED FOR?
The project has already started, and the Phase 1 of the project is well underway. The ongoing fundraising will go towards payment of Phase 2 and 3 of the project to create a gene therapy treatment for CdLS. For more information on the research team and the project, you can visit our website: www.hopeforhasti.org
The gene therapy is highly effective and a cutting-edge treatment for genetic disorders but it is also very expensive. Governments and pharmaceutical companies do not invest on rare disease hence parents like us are forced to take lead on raising significant amount of money to fund creating gene therapy treatment for forgotten children who suffer from rare genetic disorders. Your donation will make a medical history, and without your donations, a treatment will never be found.
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