Last Reviewed 14/09/2018
Hi, my name is Debbie and my little swan is called Teddy. He is 16 months old and is the youngest of my five children. His big sister is called Lacie-Jai, who is five years old. My other three are 18 and above and no longer live at home. We live in a little seaside town in Kent.
Teddy is a very cheeky little boy and has the most infectious laugh I’ve ever heard. He loves bright lights and his favourite programme or should I say YouTube video to watch is ‘Little Baby Bum’ – he sits watching it for ages.
Teddy’s biggest accomplishment to date is that he’s finally taken his first steps and walked – something we were warned he may never do. He’s so proud of himself and even gives himself a little clap! Bless him, he’s such a sweet little boy and we are all so proud of him.
So far Teddy’s journey has been a rollercoaster and we have had some scary times, having trips in ambulances and many months in hospital over the past 16 months.
Teddy was born at 38 weeks via caesarean section. At just five hours old he was taken to the high dependency unit for respiratory distress and sepsis. His feeding was very poor and he had a nasogastric tube fitted. It broke my heart when I saw him for the first time after he was taken, just lying in his incubator looking so frail with all the tubes, but also so big as he weighed in at 9lbs 1oz. We took Teddy home after eight days of being in the special care baby unit (SCBU) and thought he was over the worst and we could get back to our life with our new baby boy, but that was short lived. Teddy wouldn’t feed properly and kept going stiff and screaming. We started to get concerned as I knew it wasn’t normal so the consultant from SCBU ordered some bloods for Teddy to have in his follow up appointment at five weeks old and that was where our lives changed in an instant. We were told that Teddy had high muscle tone in both his upper and lower body, and, it appeared that he wasn’t fixing or following with his eyes. His bloods were sent off and we went home feeling very confused. Two hours later I got a call from the hospital asking me to take Teddy straight back – his bloods showed he had high lactate – it should be below two and Teddy’s was 6.4. They liaised with the metabolic team at Evelina London Children’s Hospital (Evelina London) and gave him two different medicines for two weeks, which brought his lactate levels down. The condition is called lactic acidosis and that’s where we realised we were dealing with something serious.
All of a sudden doctors were piling in our room prodding and poking Teddy and taking further blood tests.
We spent five weeks in hospital while Teddy underwent every test possible. They said he was dairy intolerant and changed his milk to neonatal milk. They said he had reflux too so put him on Donperidone.
A brain scan revealed developmental delay and said he had a piece of corpus collosum missing in his brain. His heart scan was normal and his ECG test also came back clear, but his kidneys revealed the left kidney was smaller than the right one and an ophthalmology investigation showed Teddy has a condition called optic nerve hypoplasia in both eyes. There is no cure for optic nerve hypoplasia – it is a condition linked to his metabolic condition and linked to the corpus collosum in the brain. Teddy is also long sited so needs glasses.
He had to have arterial blood tests to get a good reading of his lactate. This was done frequently and it was heartbreaking. I couldn’t be in the room with him so his dad took him instead. We then went to Evelina London where Teddy saw the neurologist and metabolic specialist. He had skin biopsy done as they wanted to check him for pyruvate dehydrogenase deficiency (PDH). We were told the condition was life limiting so you can imagine how our journey went. Teddy was admitted to the hospital and had his first lumbar puncture and more blood tests. At this point I was starting to wonder if my poor boy actually had any blood left to give. We then had a three month wait for all the test results to come back.
When we went back we were told Teddy was clear of PDH. The relief was indescribable, but it left a big question mark as to what was actually wrong with Teddy. He wasn’t ‘textbook’ as they called it and everyone was puzzled by Teddy.
That’s where the 100,000 Genomes Project came in. They are certain the answers will come from these results and that we are potentially looking at a rare genetic condition that would tie all Teddy’s conditions into one. Both Teddy’s dad and I also had our bloods taken and they have even joked to us that if no real diagnosis comes of the 100,000 Genomes Project, they would name his condition Teddy’s syndrome!
Teddy now has a gastrostomy feeding tube (PEG) and we are five weeks post-operation. It’s been such a long road for us all and seeing Teddy without a tube stuck to his face has taken some getting used to. He goes on a feeding pump for 12 hours overnight and is thriving. He’s finally started to gain weight at long last and he’s so much happier now. He’s anaemic and is on iron medication, but life’s slowly getting back to normal – well normal for us.
The main genetic diagnosis that everyone is so interested in are his neurological and metabolic conditions as these are the main one that causes him so many problems. We’ve met some pretty amazing people along the way, and as we have spent so much time in hospital I’ve made some lifelong friends. I’m sad that I’ve never met anyone along the way with children who have the same conditions as Teddy has, but we are hoping that maybe we will eventually get a match with someone else who had a child with the same conditions as our little swan. That really would be amazing.
Doctors tell us he is a very unique little boy – of course I already know that and we are very proud of him.
No matter what results we do or don’t get, it will never change anything, all it would give us is an overall diagnosis instead of several different diagnoses that we have at the moment. Teddy is a beautiful little boy who everyone loves. He’s starting to show his own character now and whatever the outcome Teddy is and always will be our little superhero.
Of course right now Teddy’s future is uncertain as no one can tell us exactly what and how his condition will affect him long-term, but we just take each day as it comes and try and make life as normal as we can for Teddy and Lacie-Jai.
A friend told me about SWAN UK and I’d never come across any support like it before. I think it’s fantastic to be able to talk and share our worries and concerns with other parents who have their own undiagnosed children – people who understand and don’t judge you. I’m excited to be a member of SWAN UK and all that it has to offer, as we are all in the same boat at the end of the day.
We didn’t have anywhere to turn to, and now we do with SWAN UK.