It really has been one of those weeks.
Last Saturday, my mother in law agreed to look after the children for the evening so hubby and I could have a night away. The plan was to go into Cambridge for the day and have an overnight stay in the nearby town of St Ives where we visited once before. However it didn’t quite go to plan. Whilst we did get away eventually, the morning for hubby was a morning up at A&E (Accident and Emergency – The UK’s Emergency Room or ER) with MIL suffering from suspected DVT. She has had problems with her legs before especially around the vein areas so when she was swelling up, going red and in pain, it was time to get it seen to. She was sent home with some injectable medication to assist the thinning of the blood and to stop the swelling. She was given the list of things to look out for and booked in for a scan on Monday to assess the state of the veins and to check there was nothing broken off that could be a risk to her lungs and make the whole thing a much bigger risk.
Assured all was well hubby and I went away and did our trip to Cambridge on the Sunday after spending the night in St Ives. This was eventful in a way I didn’t expect which is another post entirely.
Monday we were back at the hospital with MIL. I went along to keep her company and see how things went. It wasn’t DVT after all, something similar but not as serious and whilst she needs no further treatment and the scan proved that all was ok, she has to go back to her own hospital tomorrow for a follow up appointment. Between waiting for the nurse, then the scan, then the nurse again, then the doctor then someone who deals with hospital transfers, this little scan appointment had us sitting in the hospital for almost 4 hours. The main thing is that she’s ok.
Tuesday we had an appointment for Liam with Geneticists who were able to explain more about his chromosome abnormality. It was a fight and a half to get there since they had sent the appointment from another hospital and gave us the wrong address. They sent the appointment for the hospital and put down that address but we should have been at the Child Development Centre where we normally go. It was a good job we were early after a bus ride as Liam and myself weren’t particularly thrilled with the mile and a half trek across town. When we did get seen they were lovely.
They explained about the problem and how Chromosome 8, section 22 had not fully formed so he had part of a chromosome missing. This is the most common of Chromosome 8 abnormalities and the least severe. Phew.
This means that as such a chunk is missing they do expect that he will have a form of educational needs most of his life. They think that with this disorder and the family history of speech problems and dyslexia that he was just unlucky with all these factors and the added chromosome misfunction.
My biggest worry was health concerns but this issue means he will have a normal life with no real medical issues. Hubby and I had our genetics tested with a blood sample we both had to give and it turns out that neither of us have any genetic issues. This purely happened somewhere along the path of creation and in utero but they don’t know why since neither myself nor hubby were a carrier. This means that should we have more children (which we wont) that child would be very unlikely to have the same problem though it can never be ruled out. However, when he is older, Liam has a 50/50 chance of passing on that troublesome chromosome to his own children should he have them. Genetics are so complicated they cannot explain half of it but they will make Liam aware of his condition when he is in his teens and will do a check up on him and keep his condition monitored for future reference and research so we are a family case study with one of Britains top Teaching and Research hospitals.
So I am now much happier now I have more of an understanding of it and know that he isn’t suffering from any health conditions to be worried about. The worst bit is having half the story. We are awaiting all the paper work then I can officially join the official Rare Chromosome Support Group and be of support to others with similar issues as well as get information and support myself.
Friday James and Liam had another appointment at the CDC. Dr C our case worker with their learning difficulties asked us how they were doing at school. If they were still getting the help she had recommended, if they happy at school, if we’d had the Genetic results explained fully and it was just a general, “how’s it going?” meeting. We said we were happy with what the school was doing, that they did appear to have things in place and the boys were happy with being at school and trying really hard. She took their heights and weights and showed us they were growing well, that they were catching up a little though they would likely be behind for most of their school lives but then asked how we would feel if we had no further contact with the CDC. In short, she explained that her job to find any medical underlying issues were done, with the family history it was likely they would have learning difficulties of some sort and now we’ve done our part, she’s done her part and got all the right connections in place for the school – it’s now the schools part to provide the right care and education to them both which I entirely agree with. We’ve gone through test upon test, the boys have missed HOURS of school over the months and the more school they miss, the more of their education and catch up time they miss. James struggles with confidence, that’s something that can only come in time with school support. Liam is doing really well with his sounds and starting to read really well, I don’t think it will be long before he starts to overtake James with that purely because he has the confidence James doesn’t. He struggles with the fact he might get it wrong so he slows down and really works hard to get it right. They both struggle with writing which again will come in time and with support, patience and maturity. The school just wants to push push push. They aren’t allowed to learn at their own rate, they have to meet the teachers targets which makes life harder for them.
So the official word on all these tests and meetings to assess and organise help for them are finished. We are signed off and will no longer need specialist appointments. We just need the school to be doing what they should and I am actively giving each boy a little more time each day to help them. Though I am a busy mum with so much going on, my job is to help them where I can. Just an extra 10 minutes a day or an hour a week (on top of the usual reading, spellings, homework) should give them a little bit of a boost with their abilities and confidence.
So now, a new phase begins……