Marie is a 19 year old young woman, who is full of joy, life and love. She loves deeply the most important people in her life, music, swimming, horseriding, home, outings, routine, her carers, nature, painting, shopping, cooking and more. Her biggest asset is her vibrant character.
When Marie was born after the first day she began to have difficulties with feeding and severe colic. She spent her first week in the neonatal ward. Once she came home she had sleep and feeding difficulties. She would only take little naps while held upright in my arms, if she lay down on her back or tummy she would scream with pain and she had her first night’s sleep when she was two. She had severe reflux and vomiting and was very slow to feed, most of the bottle would be leaked over both of us. At five months people began to comment on how floppy she was, she had first signs of Microcephaly and she was continuously sick with respiratory, ear, nose throat and kidney infections. From this point all her milestones were delayed and she wasn’t trying to use her hands like other babies. She was diagnosed with microcephaly, Central Hypotonia and later Global Development Delay.
Marie has a severe level of learning disability. Whilst this is accurate the diagnostic criteria doesn’t fully appreciate how clever, witty and individual Marie and others with DDx3x are. I feel there is more to understanding the condition and her difficulties are often in processing as opposed to a straight forward learning disability. Marie is very much so a 19 year old young woman, who loves to choose her own clothes and has a good eye for style, she chooses her activities and makes her own decisions she just needs support to do this.
Marie has autism, but at the same time is very loving and loves the people in her life and wants to interact, it’s just very difficult for her to understand conversations and interactions between people, she likes her friends but stays a little on the periphery or may find a repetitive interaction. Marie is at her best one to one and with a carer/support type relationship.
Speech is mostly repetitive and very difficult for her to use to express herself, which can be hard for her as she has a strong mind and wants to express herself. She will use her speech to crack a joke regularly, she has a wicked sense of humour. For important information or questions she uses Yes and NO cards which she points to.
Teaching is never ending, Marie doesn’t retain or learn in a typically manner, but some form of routine or pattern is key. Marie goes through periods of regression, but still amazes us how she can come back and she continues to progress totally in her own way.
Marie has many other symptoms which need significant support, Kyphosis, Lordosis, scoliosis, abnormal feet short wide and structural problems, hip problems, epilepsy, visual impairment, Autonomic dysregulation, Raynauds and more. All her functioning, processing and autonomic nervous system issues are unstable, any form of stress can trigger difficulties. Marie needs oxygen at times to support her unstable oxygen saturation levels but her strong character doesn’t allow this to stop her enjoying her life.
Marie has had eye tests over the years and drs have said she has palsy of the optic nerves but that her eyes can see. However, they have always said they questioned how her brain is receiving her vision, this is something that showed up also in EEG’s. It was when we finally made contact with other DDX3x families, I first heard of CVI, I knew straight away CVI explained my daughters vision.
The key advice I would give other parents is,
‘Behavioural difficulties’ is communication to someone with communication difficulties. Understanding as much as possible about Sensory processing disorder, Autism, visual impairment and neurological difficulties is key. Also, getting to know the person behind the symptoms and tapping into the best form of communication for her has been key to supporting my daughter as best as I could. Fight for everything they need and don’t let the system make you doubt yourself, you are the expert on your child.
Despite all her complex symptoms I can say Marie has a really good quality of life that she loves and lives to the fullest.
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