Rosa is a happy 5-year-old girl with an infectious zest for life. Cooking, singing, painting and parties are always high on the ‘to-do’ list but Rosa, who has been diagnosed with a rare genetic condition, has had to overcome so much in her short life.
The day Rosa was born changed mum and dad Hana and Russ’ worlds completely. Rosa had to be resuscitated at birth and subsequently spent 2 weeks in the Special Care Baby Unit, followed by a week in Bristol Children's Hospital learning to breathe and eat on her own. While she was there, Rosa was diagnosed with Chromosome 13q terminal deletion at breakpoint 32.1. 
This means Rosa is deaf and wears hearing aids. She is also blind due to bilateral retinal colobomas and visual processing issues, and has global developmental delay and learning disabilities. She suffers from ongoing respiratory issues and has brain abnormalities which can lead to seizures. Rosa also has hypotonia (low muscle tone), meaning she is unable to walk, and many of her organs are weaker or don't function as well. She has a gastrostomy and is tube fed.
Hana said: “Rosa had many admissions to hospital over the first few years of her life for recurrent respiratory issues and has required support to breathe on many occasions. Over the last 5 years, she has needed daily therapies to help her to progress and develop, and we have taught her Makaton sign language to help her communicate.”
In April 2021 Rosa also developed type 1 diabetes.
“Managing this has been very stressful as she has no understanding of what this means,” said Hana.
“For example, if she experiences hypoglycaemia (potentially life-threatening low blood sugar) we have had to force glucose into her because she can refuse to eat and we are unable to explain what is happening. She also requires daily injections and monitoring.”
Despite her differences and the barriers her condition places upon her, Rosa lives a happy life, said Russ.
We feel her determination, enthusiasm and zest for life is how everyone should live their lives.
“She enjoys many activities and some of her favourites are cooking, painting, parties, singing and signing and swimming. She enjoys going for walks in her wheelchair and trips to the zoo.
“Rosa is very social and normally captures the attention of any room despite her communication barriers. She uses Makaton sign language to communicate and will gesture and point to communicate if needed.
“Rosa has a special bond with her grandparents’ dog and often gives her big cuddles and strokes her when she come near. She also has a close bond with her little brother Beau and loves to spend time with him and will often hold his hand and laugh at him when he’s being silly.”
Rosa’s medical needs affect every aspect of the family’s lives. She follows a complex feeding regime daily life for the family is complicated and stressful.
“We are always close to needing to take Rosa to hospital and have a large medical and social care team around us,” said Hana.
“She is in a special educational school setting and this is somewhere she loves and where her multisensory workers can support her fully so that while her medical and physical needs are met, they can help Rosa progress in every aspect of daily life. This setting is an hour’s bus ride away from home, something adds a lot of time onto the school day.”
Hana said she and Russ often find it hard to just be Rosa’s parents as they have had to take on so many more roles on top of this.
“We are carers and have to help Rosa with every aspect of life. We are also nurses and undertake many medical procedures day and night. We also have many complicated physiotherapy, communication and occupational therapies to complete with Rosa on a daily basis.
It is hard to find moments to be a ‘normal’ family and not be completely consumed by solely meeting Rosa’s needs.
The family, who live in Newton Abbot, have been visiting Children’s Hospice South West’s (CHSW) Little Bridge House hospice near Barnstaple in North Devon since Rosa was aged 2. They have had respite stays at the hospice and their care contacts Beth and Elaine regularly check in with them to support them at home.
“When we were referred to Little Bridge House, we were still coming to terms with Rosa’s diagnosis and learning what it meant to be her parents,” said Russ.
“The future was very unclear and the world of disability very new to us.
“The stays at hospice are vital to give us the chance to rest and recuperate and to make connections with other families. We view Little Bridge House as a home from home and breathe a sigh of relief when we arrive.
“The facilities are amazing and have allowed us to make some very precious family memories with the pressure of meeting Rosa’s needs taken care of by the Care Team. We always use the hydrotherapy pool and sensory room and Rosa loves to see all the staff, who have become firm friends. She loves the time she spends there and her little brother is learning to love Little Bridge House too.
“We love to spend a lot of time in the garden and using the adapted playground toys too. Rosa Is a massive fan of the wheelchair roundabout and the swings. We normally take a daily walk around the ‘Narnia’ sensory garden as this is a beautiful way to keep Rosa’s attention and to spend some much-needed time together as a family.
“We are also able to take time to spend with Beau as he is often over looked due to meeting Rosa’s medical and physical needs.”
Our times at Little Bridge House are magical.
“The team there are amazing and take everything in their stride. Nothing is too much trouble and making sure we make amazing memories as a family is always their top priority, something we will be forever thankful for," added Hana.
“But most importantly, these stays give us the strength to carry on caring for Rosa. Her medical needs mean we spend many nights checking blood glucose every 2 hours and administering medications. Rosa is not safe to be left on her own and so we are always on tenterhooks looking out for signs of illness or complications.
“The peace of mind we have at Little Bridge House means we can properly rest knowing her needs are being fully met and most importantly she is being kept safe. We will be forever grateful for the care and support of the hospice and can’t thank them enough for the time they have given us to be a family.”
Hana and Russ raise awareness of Rosa’s condition and Makaton signing on their Live Like Rosa Facebook and Instagram pages.