A few weeks ago I was put in touch with Deborah Alford, loving mother of beautiful Isabella who will turn two and a half years next month.
Deborah and I shared our daughters’ stories and how both our families came to receive the awful diagnosis of Tay-Sachs. We keep in regular touch, we share our day to day, our feelings and the practicalities of our new lives. Although our hearts break for each other’s family and for our own, it’s comforting to be able to have someone on the other side who truly understands.
Deborah kindly allowed me to share Isabella’s story on our website, here it is on her own words to me:
“I am pleased to say that I had an excellent pregnancy and a birth that was free of any complications. Isabella was a healthy 8lb 2oz, beautiful and perfectly formed. I struggled with breast feeding and after a week, Isabella had lost too much weight and I had no choice but to bottle feed. At three weeks old she developed a strawberry Nevis on her head which grew at an alarming rate so we had to get her checked out at the hospital. She had a scan of her abdomen to rule out any other growths but all was clear and we were assured that it was not a cause for concern and that it would shrink away as quick as it came. It has.
Isabella was also ahead of all her milestones. She was early with the mumum sounds and carried on with the dada and proceeded with several words like Dad, cat, chair, hair etc. She could point out all her main body parts way ahead of her friends and could identify all her animal flashcards correctly at about six months. She was also up on her feet at six months, preferring to hold our hands and walk rather than crawling. Her crawl always struck me as being a little slow. By ten months she started to take a few steps by herself so we were sure that she would be walking by her first birthday. At ten months though we did notice that her words had mostly fizzled out. She would occasionally say the odd word but not as much as before. We didn’t worry too much about this as my husband didn’t talk until he was three.
At Isabella’s ten month check I raised concerns about her sensitive hearing. She startled a lot and also got very upset in busy, noisy environments. We did get a call from the hospital but by the time this happened it had calmed down a lot and although the startle to noise was still an issue, she was no longer as upset by it so I didn’t pursue it. Isabella had always been a sensitive baby, she cried a lot and was and still is very clingy to me. When I met up with friends at groups or at each others houses she would never get stuck in and play with them, she refused to get down off my lap. I admit to feeling a little stifled although I put it down to a shy personality as myself and my husband had also had as children. Anyway, the walking continued to improve, she could walk by herself across rooms and zoomed around everywhere with her walker. At 14 months I was puzzled that she still hadn’t let go for good but health visitors told me the usual line that she will do it in her own time. By 18 months I was concerned and felt we needed some help as Isabella’s feet seemed to be falling inwards. We were referred to a physio who explained that Isabella is hyper mobile and that all her joints were too lax. This explained why she wasn’t walking by herself continuously as it usually takes longer with hyper mobility. They recommended she wear boots to support her ankles. I also realised at this time that Isabella had never stuck her tongue out. A nurse friend of mine suggested she might be tongue tied and I thought this might explain the breast feeding difficulties and the lack of talking.
On October 5th 2010 we took her to see a GP who quite honestly scared us out of our minds. She felt that Isabella had a whole host of motor and fine motor delays. She asked if we had Spina Bifida in the family. She referred us to a paediatrician which took two months, leaving us to come up with all sorts of medical possibilities, most of them scary. The paediatrician saw straight away that Isabella was having absence seizures which in itself was a lot to take in, we thought she was a day-dreamer. Isabella then had appointments at Addenbrookes, Cambridge for two lots of E.E.G’s, neither of which showed any epileptic activity. She then had a C.T. scan to rule out tumours. This was clear too. We were then referred to a neurologist who felt that there was likely to be a more serious problem and that we would need to see an ophthalmologist and have various other tests. That night I read about Tay-Sachs after hours of internet searching and I knew in my mind that everything fitted. We saw the ophthalmologist who found the cherry red spot and I knew exactly the kind of disease we were looking at. Two months after I had read about Tay-Sachs and after a myriad of blood tests we received the diagnosis. This was March 15th this year.