Fern is 2 and a half (DOB 22 July 2008). She is a beautiful girl who we all love!
My pregnancy with Fern was different from the start. At 8 weeks I had a scan as I had experienced bleeding and pain. All appeared ok, I was still pregnant. The 12 week scan was fine, and the blood test for a down's came back as low risk. As I got to my 20 week scan I had a nagging feeling that all may not be right.
When we went in for the scan it transpired that Fern had an echogenic bowel, which is a soft marker for Down's and also there was excess amniotic fluid. We were tested for all manner of things included cystic fibrosis, all of which came back clear. We refused an amnio as I was having this baby, down's or not.
The polyhydramnios got worse but I was ok. I was tested for gestational diabetes but it was negative. I eventually ended up going in to hospital to be induced a few days before Fern was due. The hospital left me nil by mouth all day as they insisted on breaking my waters in theatre due to the risk of a cord prolapse. It was horrid as they had also prepared for a 'crash' section due to the cord proplapse risk, with an anaethetist hovering and all sorts of scary looking surgical instruments and a resusitair machine for baby.
Anyway I thankfully didn't need that and all was progressing rapidly. Fern was born with ther hand on her head, and then she got stuck. She had shoulder dystocia. She was delivered by force, and was literally wrenched out of me. She was not breathing and was a horrific colour. She was immediately passed to one of the many medical staff that had appeared in the room who was an extremely calm male paediatrician who just fixed her. She immediatly latched on and started feeding, within about 45 minutes of birth which astounded everybody! SHe was 9lb 10oz, which is big, and I am only 5'1" so the doctors were quite relieved it all turned out ok.
Shortly after birth Fern was referred for Down's screening due to her slightly dysmorphic features which came back clear. I even asked the paediatrician if he thought that she could have a mosaic syndrome due to the mild symptoms but he dismissed it as 'too unusual' as he had never seen a case.
At about 3 months I mentioned to the health visitor that I was concerned that Fern had something rare. She was hypotonic, and I didn't think that she could see properly. Even though she is my second child this apparently counted for nothing in the experience stakes and it was put down to a symptom of my PND that had been diagnosed.
Eventually after a few more months I was referred back to Fern's original paediatrican who within 5 minutes of me being there dismissed my concerns about Fern's sight and clenched hands, told me that there were problems with the structure of her brain - without any scans or anything - and that 'she would never really come to much'. I was duly heartbroken and went home in a terrible state.
We were referred to a Child Development officer, who is AMAZING. She arranged for Fern to have physio, occupational therapy, referred to the optic consultants and arranged for her to see a different and significantly better paediatrician. A subsequent EEG and MRI scan were completely clear, indicating just one more error that her initial paediatrician made.
Fern finally got to see a geneticist about 8 months ago and the results have now come back. Her geneticist suspected PKS from the start as she is the 2nd case he has seen and recognised her features, mainly her hairline.
Fern is wonderful and has enriched all our lives. The care she receives now is amazing and I will always be indebted to her doctors therapists and VI centre for the assistance and pleasure that they give Fern.
Her physio is confident that Fern will be mobile as she is quite strong. She does not seem to have any health problems, no major organ problems, no feeding problems (only that she LOVES her food!!), no epilepsy. She has a VI, is mildly hearing impaired and has the distinctive hair line of PKS. We are ever optimistic that Fern will be able to live a supported life when she is older, and have a degree of independence, we will always work towards this.
She is the happiest girl and is the shining light in her mummy, daddy and big brother's life and we wouldn't change her for the world xxxx