In 2010 we were blessed with a beautiful and very special baby girl who was born with very complex respiratory and gastro medical issues making her number 7 in the world with her unique genetic condition called "Duplication 22q12q13".
At first, our gut feeling was saying something is not right. She wanted to sleep 24/7, hardly cried and was not really interested to feed. I tried breast feeding, bottle feeding, yet still she was not keen.
We took her to the baby clinic and the GP said she seems fine and dismissed our concerns. In despair, we contacted GOSH and booked a private appointment to see the Gastro team. As parents, we could not just sit there and do nothing. Something was definitely not right!
She was 3 months old when we went to see the Gastro Consultant at GOSH. The consultant mentioned she did seem to have mild dismorphic features and would need to undergo various tests to identify the issues. GOSH contacted our GP and asked them for an immediate referal as they shared our same concerns.
A month after our first visit, she became very poorly. We rushed her to our local hospital. Her oxygen saturations were low, her breathing was heavy. X-rays confirmed aspiration pnemonia. Our baby girl was aspirating due to dysphagia (swallowing problems) in adition to suffering from severe reflux. This caused her upper right lung to collapse.
Little did we know that the tiniest things we would normally take for granted in life such as eating orally and swallowing saliva was actually life threatening for her.
From then, she required naso-gastric tube feeds and required 24/7 portable oxygen therapy.
It was DAUNTING! We had to bottle our feelings and crack on with it. Our baby was fragile and needed our strength to help her.
After spending months on end between Great Ormand Street Hospital and our local hospital undergoing treatments and investigations, she was diagnosed. Her syndrome is so rare and there is not much information to go by.
At 8 months old, her condition got worse. GOSH put her on an emergency surgery list explaining that if they don’t operate asap her lungs will not be able to go on. After 5 days of being on the list, she was operated on.
The procedure entailed a Nissen Fundoplication and fitting a G-tube at the same time. Her problem was being caused by poor swallow (including aspirating on her own saliva) and severe GERD. It was a problem caused by two ends.
We literally spent the first year of her life in hospital. It was surreal! We celebrated her first birthday at Great Ormand Street Hospital and got discharged a few days after.
Her gtube and Nissen’s have been life saving. We can not thank the nurses and consultants enough. We will forever be grateful. It really has saved her life.
6 months after surgery, her lungs got stronger and we managed to wean her off the oxygen.
She does suffer from low immune system and winter months can get pretty rough and isolating as we can become house bound at times. She is 8 years old now, however physically looks no bigger than a 3 year old weighing 12 kg and 97 cm in height.
She is non verbal but has her own way of showing what she wants. At 5 years old she became more mobile and at 6 years of age she started eating blended puree food orally (though we have to trigger her swallow by giving her a dummy after each spoonful or else she would not swallow it).
All her fluids still go though her tube. She also requires a lot of venting and free drainage during the day to aleviate her tummy pain caused from excessive gasses. She will always have to depend on her tube for fluids and venting. Our little girl is a fighter and we have learnt more from her than she from us.
It can be a very lonely place as a special needs parent. Its very difficult to find someone to babysit for respite. I think family members and people see the tube feeding scary but really it is’nt.
My first advice to all new tubie parents is to get refered to a disability social worker.
Social workers help with allocating families with direct payments to hire a personal assistant “trained in tube feeding”. This helps provide you as a family with respite and your child having access to additional community visits (such as sensory rooms, soft play, cinema, a visit to the town etc).
This is vital as it allows you to focus on yourself and other sibilings that may feel a bit left out because you need to give your other child more care and support.
Secondly, I recommend joining tube feeding support groups on Facebook. Its always nice to be able to have a chat, rant, advice and support from other tubie parents going through a similar journey.
I highly recommend “Blended Diet UK” and “Feeding Tube Awareness” FB groups.
Last but not least, you can not pour from an empty cup! You need to focus on your own well being too!
Your Journey might be scary at first but you will be surprised at how inspiring this journey can get!