Phoebe was born naturally on the 20th February at full term following a green pathway pregnancy. Quite quickly it became apparent she was having some difficulties feeding but we were assured this would settle. Phoebes feeding difficulties continued over the coming weeks and we were admitted to hospital where she was fitted with an NG tube as she was dehydrated and losing too much weight. We were seen by the infant feeding team and speech and language during this time who supported us with her feeding.Phoebe was started on some reflux medication and sent home.

Fast forward a few months on , Phoebes weight gain wasn’t great but she managed to maintain rather than lose. In the months that followed I noticed Phoebe wasn’t meeting the usual milestones , had a lack of head control , could not roll over and was unable to sit up. She was very content and was happiest lying flat in her pram.

I always think a mother’s instinct is so important so I continued to put across my concerns. As her weight gain improved but her physical skills did not my concerns grew. At this point there were some conversations around cerebral palsy but an MRI wasn’t possible until 18months so it was decided that Phoebe would have some blood testing done to check for some genetic conditions linked to her feeding difficulties.

One week before Christmas and a day I will never forget I was given the devastating news that Phoebe had a rare genetic condition called Angelman syndrome.

This affects 1-15,000 births , resulting in a loss of function on the UBE3A gene on the 15th chromosome. Several characteristics of AS include developmental delays ,loss of speech , epilepsy , lack of sleep , gastro issues and problems with balance and movement. Despite all these symptoms most individuals affected with AS have a bright , happy and smiling demeanour.

Would she walk? Would she talk ? I asked , both met with uncertainty.I was quite quickly told of all the things Phoebe would not be able to do but very little was said about the possibilities of what she could achieve. I decided to focus on hope and I started to research the therapies and specialist equipment available that could help Phoebe have the best chance to live as independently as possible , reaching her full potential.

It became quickly apparent that the NHS alone is not able to offer anywhere near the amount of therapy and some of the equipment she would need. At present Phoebe would only be entitled to 8hours of physio a YEAR !

Of course this support comes at a cost that I as a solo parent to Phoebe and my 3 year old son cannot solely afford. She has already started to show us how effective these therapies are for her physical and cognitive development.

Phoebe is now able to maintain good head control , can roll from left to right , co ordinate her arms and hands allowing her to play and help develop her self feeding. She recently surprised us all with being able to sit herself unaided for short periods - HURRAY !

We are currently under the care of -

Consultant

Occupational therapist

Physio (NHS & Private)

Speech and language

Wheelchair services

Orthotics

Phoebe attends weekly private physiotherapy & hydrotherapy totalling £600 per month

We are now looking into Spinal stimulation, E- stim machine , communication devices , safety bed , specialist car seat and walking aids.

Each additional session and the specialist equipment that your generous donations and fundraising achieves is life changing for not only Phoebe but us all as a family.

Phoebe has the most infectious smile & has the ability to brighten up any room. She teaches us daily how to appreciate the simple things in life and bring us so much joy.

Thankyou to everyone who has supported us so far and helping raise awareness for Angelman Syndrome

Please follow our journey on instagram - phenomenal.miss.phoebe

Emily x

7.5% of all donations to Tree of Hope in relation to this appeal will be allocated to the general charitable purposes of Tree of Hope to cover our core operating costs.

If we raise insufficient funds, or surplus funds, then the funds will be used, if appropriate, to fund support for our child’s needs in accordance with Tree of Hope’s charitable objects. If in those circumstances we are unable to use all or part of the funds for the benefit of our child in accordance with Tree of Hope’s charitable objectives, then any funds that cannot be used will be transferred to be used for the general charitable purposes of Tree of Hope.