Please help us to raise money for a cure for Angelman Syndrome. There are 4 possible drug treatments that we need to fund to get to clinical trial. Money is the biggest barrier for AS research as it's a rare condition, it doesn't receive any government funding so it's down to us to raise the money for our children and adults with AS. Please don't let money stand in the way of Zac's chance to speak. If you'd like to donate we'd really appreciate it, please see our Facebook page - Cure for Zac for current fundraising events.
How does AS affect Zac?
Angelman Syndrome affects Zac in many ways,one of the hardest being that he can't speak, if a treatment isn't found he never will. He has no words but we can't contemplate that our gorgeous boy will never say Mam or Dad. He understands a lot more than he can let us know but as he also has problems with co-ordination, jerky movements and motor control so signing will also be difficult for him to master but he will try. It is also likely that he will need to use a wheelchair but we really hope that he will walk one day.
The most terrifying and life threatening part of Zac's condition is that he also has Epilepsy. He has been hospitalised on numerous occassions and most recently was admitted to HDU due to his seizures and breathing problems. It is so scary. Zac has many different types of seizures which may mean he will need to be on a few antiepileptic drugs to gain control, we are trying to prevent this and have Zac on a special diet.
He has many sensory processing issues especially tactile, he didn't touch anything for the first year of his life but he has been working hard to develop this. Zac smiles and laughs often (the nicest symptom ever eh?) however he can display behavioural issues due to sensory overload.
Zac is also visually impaired, he was considered blind for the first 14 months of his life. It was absolutely devastating when at just under 5 months old it was thought he still couldn't see light nor dark, yet we had no answers. We just had to wait. Thankfully his vision has developed and improved considerably in the last 6/7 months...we don't really know how much he can see but he can spot food from afar so I don't worry too much anymore! We don't have a diagnosis for his low vision yet but there's an association with Oculocutaneous Albinism Type 2 and Angelman Syndrome.
There are many other symptoms to Angelman Syndrome that Zac has but are too numerous to explain such as hypopigmentation,hypermotoric, hypotonia, ataxia, plagiocephaly, strabismus, attached upper frenulum, hernias, reflux, drooling, excessive chewing, unable to regulate temperature,disturbed sleep, short attention span, restlessness. So life is never dull!
What is Angelman Syndrome?
Angelman Syndrome has already been cured in the mouse model - symptoms were reversed!
Research indicates that the brain and the neurons form correctly in a person with Angelman Syndrome. This is a critical piece of information because it indicates that the brain could function normally if UBE3A function could be restored. As an analogy, if we think of the brain as a car engine, the brain of an individual with UBE3A has all the pieces and parts in the right places. Nothing is missing. However the engine runs poorly since it can't be properly tuned. UBE3A appears to act as a tuning mechanism to allow a neuron to function at its fullest potential.
Scientists believe we are 5-10 yrs from a treatment/cure.
What is life like for Zac?
We try to have as much of a typical life as possible however Zac does have many therapies and appointments due to his complex needs which does have an impact. His regular therapies include:
Physiotherapy, Occupational therapy, Speech and language therapy, PINs, Visual Impairment teacher.
He also has regular hospital appointments with a range of Consultants such as:
2 separate Paediatricians, Neurologist, Paediatric Ophthalmologist, Maxillo Facial, Genetecist and Gastric. He also sees Orthoptist, Epilepsy Nurse, Specialist Health Visitor, Neurophysiology, CDT meetings.
Zac is also on the Snowdrop programme which is a specific programme of activities/ exercises specifically tailored for him to create/develop neural pathways in the brain which is repeated 4 times a day.
Zac has had to endure so many tests throughout his life,he is such a brave boy. I have lost count of the number of blood tests he's had they are so many, barium swallow, head X-ray, scans, ECG and 3 EEG's. He is currently awaiting a hernia op in the next couple of months.
What does a cure for Angelman Syndrome mean?
It means that Zac may be able to learn like a typical child. He may speak. He may say Mam and Dad, chat with his sister, stand up, walk, feed himself, go to the toilet, tell us when he's in pain. All the things we take for granted.
We won't know unless you donate, please don't stand by. Help us.
All money raised will be sent to Foundation for Angelman Syndrome Therapeutics (www.cureangelman.org) to fund research into a cure.
I (Zac's Mum, Laura), family and friends are going to run/jog/walk 10k. Please see our Facebook event- Mums on the Run for more information or if you'd like to join us on the run. The more the better, everyone is welcome! Please sponsor me on this page, thanks :-)