» Diagnosis
Anguish of mum and baby ‘Bobbin’ Robin
Summer Mepham tells her story of the frustration at seeking a diagnosis of CdLS.
| Doing so well: Robin Mepham. |
I was given dexamethasone, a two-dose injection in a 24-hour period, to develop ‘baby’s’ lungs in case he was born.
He never came, but from then on I had horrid pains, like contractions, until the day I had him, four days late, on June 27th 2002.
I got up at six, an instinct told me to go to hospital and at 9.45am I was holding him in my arms. Robin was estimated to weigh in at 9-10lbs, but was actually 5lb 10ozs.
Eyebrows
He had so much hair, he looked like a little Eskimo. His eyebrows didn’t exist, just his forehead, covered in jet black hair, and so were his shoulders, arms, the whole of his back, and all down his legs.
I remember the first time I held Robin, I knew something wasn’t right. I gave him a bottle and he wouldn’t drink from it.
I was given a six-hour discharge, and was home again at lunch time. From then on, I had a battle to feed him: I changed bottles, teats, I tried everything on sale, but nothing worked.
Hernia
By the time Robin was six weeks old, I was so tired. I went to Kent to stop with family. He cried all the time and had an umbilical hernia.
My aunt took him to casualty but they said ‘he was just constipated’. Back home in York, I saw doctors twice weekly but they said he just had an allergy to milk and put him on soya.
In the end I just said to the doctor, ‘He is due a feed, Why don’t you feed him, and then tell me nothing is wrong’ – he laughed at my suggestion and said I was just tired and should persevere.
I could have cried because by now I knew there was definitely something wrong.
Robin was nine weeks old: he cried 16-18 hours a day; he never looked at my face, let alone smiled.
One day he was weighed at the clinic and, thank goodness, I was finally listened to. Robin had lost a lot of weight and was taken to hospital that afternoon.
He was fitted with a nasal gastric tube and doctors ran test after test: barium swallow, ultra sound on his tummy, brain ultra sound, and then the geneticist came to see him.
After weeks and weeks of visiting St James’ in Leeds for more tests, the doctor finally told us about CdLS.
After the diagnosis I searched on the net for more info, and when I found it, realised straight away why he cries so much.
He hates lots of noise,especially high pitched noises, he hates sitting, and loves to be bounced over and over and over again, (that’s why we call him ‘Bobbin’).
Bobbin seems to be mildly affected by the Syndrome: he has all his fingers (even though his arms are bent like bananas) and toes, he has the biggest ever eyes and even bigger lashes, and the wildest mop of hair.
Singing
He rolls around the living room floor, loves his brother singing to him, and, yes, has finally learnt to smile (I would even say that his eye sight is 100 per cent better). He kind of coos too. He is doing so well.
We still have extreme difficulty feeding Bobbin, and the doctors are considering fitting his tube through his tummy.
I still can’t believe he has this condition. Whether or not I am in denial I don’t know, or whether what I feel is normal, I don’t know.
All I do know is, I am glad that I can read up on things and know what to do. Thank you for all the information and support.
Summer Mepham,
Rothwell, Leeds