Little Tansy was eight years old and in hospital with a chest infection. It was then that her doctor pointed out marks on her skin that he wanted to get tested. They were not birthmarks. They were symptoms of a genetic condition called neurofibromatosis (NF1) that makes the body vulnerable to tumour growth.
“If Tansy hadn't had gone to the hospital and the doctor hadn't seen the marks, she might still not have been diagnosed,”
said her Mom. “How many times had she been to a GP since she was born for childhood illnesses – and no one spotted it?”
Neurofibromatosis is a syndrome that can affect the brain, nerves, spinal cord and skin. Worse, it can trigger the growth of tumours all over the body. While these tumours may be non-cancerous at first, your baby has a much higher chance of developing cancer over his lifetime. And not just this, he could also suffer from social problems such as anxiety or depression, experience developmental delays, and battle with a whole spate of psychological and cognitive problems. It is heart-breaking and life-altering…
Could Your Baby Be Suffering From This Condition?
The marks associated with this condition are called “cafe au lait” or CAL spots, because of their coffee-brown colour. There is no known cause for this condition yet. It is simply a genetic mutation in the NF1 gene and could happen to anybody, for no rhyme or reason. These marks usually look like this:Picture: kwizoo.com
Check this list carefully to see if your baby displays any of the associated signs:
- Freckles in the armpit or groin area
- Six or more café-au-lait spots
- Nodules in the iris of the eye
- Rubbery lumps under the skin
- Lesions in the eye which leads to poor eyesight or even blindness
If you suspect that your baby could be displaying even one of the above signs, immediately see your doctor. There is treatment available for this condition and it involves surgery to remove the neurofibromas. You will also have to take your baby for periodic medical evaluation and ensure that his symptoms are managed, with no new tumour growth. With advancing medical research, treatment is possible and all hope is not lost. However, any delay in getting treatment can be prove to be damaging, or even fatal, especially for young children.
The bottomline is this - not every curious mark or bump on a baby’s body is simply a birthmark! So the next time you hear a new parent dismiss a suspicious bump in their baby because the doctor told them “it’s just a birthmark”, request them to be doubly sure. We can all make mistakes in diagnosis. But even the slightest lack of caution in this scenario can mean your baby’s life may never turn out to be like the beautiful dream you had woven for him. Be careful!
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