Undiagnosed and in the dark

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The heartache of not knowing the cause of my daughter’s severe developmental problems

When Azaria was born, she had a different look in her eyes to our first daughter, Amberley. Azaria needed tiny baby clothes which, considering she was 7lb 3oz, was surprising. She also had talipes feet, which were put down to them being in an awkward position whilst inside me.

Feeding was a problem from the start; she seemed to go to sleep too quickly after the start of a feed and I just couldn’t wake her. By day three, I noticed a blueish colour spreading across her forehead and around her lips. We rushed her to A & E where tests started. Nothing was found; her problems were put down to a virus and we were sent home. Feeding got worse and we struggled on for months. Silent reflux was diagnosed and Azaria spent much of her first year in hospital with “viruses” and severe chest infections which were also blamed for her delayed development. She had a list of problems but no-one
realised they were all linked; all people could see was a happy, smiling baby.

When we finally saw a consultant paediatrician, she recognised in seconds that Azaria had swallowing problems and was aspirating liquids into her airways and lungs. Azaria was eight months, had missed all milestones so far and this, in addition to her length and other increasing problems, resulted in lots of tests being ordered. We were told we’d have answers to all our questions at the next appointment. But the answers never came; it was great to be ruling things out but our daily lives were increasingly about therapies, feeding and constant care and we were realising that the causes of her problems were not ones that could be fixed with medicines or operations. At every appointment with a new specialist, we went in hoping for answers and came out feeling another knock back.

Azaria is now three. She has major sensory issues and is severely delayed. She has no concept of safety and does not feel pain like other children – a dangerous combination. She requires medication to help with many of the normal functions in life, has no awareness when she is full and will eat anything she can lay hand to, even if inedible. She’s only the size of an 11 month old but she is the happiest little girl I know.

People ask me if a diagnosis for Azaria would really make much difference, but if you know what you are dealing with, you can anticipate the types of problems you might face and get advice from others in the same position. Social services and education providers arealso better placed to provide the right support. Without a diagnosis, you spend all your time reeling off lists of symptoms and have to fight twice as hard.

Sometimes a new behaviour or unusual development panics me. Is that new lump in her spine the start of deformities in her body? She’s not grown for six months – oh my God, is this her full size? Will she ever walk or talk? Will I ever hear her call me mummy or tell me she loves me? It’s not knowing that causes such heartache.

Ultimately, it is our love and care that will make the difference to her life, not a diagnosis, but if we had one, it might give us new ways of coping, more support and help us feel less isolated and scared by the unknown. I will never stop trying to find the answers for Azaria but if they don’t materialise, then maybe there isn’t another child like her. She will always remain stunningly beautiful and uniquely complex, but she’s mine and she’s amazing.

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2 COMMENTS

  1. This article is amazing and so very true. My daughter Georgia is 3 and has severe development delays, sensory processing disorder and physical complications yet endless blood tests and scans have still not provided the answers, it is so disheartening. I agree that a lot of people say a diagnosis isn’t important and it just gives us a name but it also gives us an idea of what her future holds. Good luck in finding a diagnosis x

  2. My son is 12 and still not diagnosed. I don’t think anybody really understands us like each other. Good luck..we never know when an article or doctor might say ‘hey, I read about something that might be it’..it’s worth never giving up.

    good luck and God bless you and your family

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