So many times over the last year I’ve wished people would take the time to understand Oliver and learn a bit more about autism. In that time I’ve been very fortunate to meet a wonderful network of people via Twitter who have either taken the time to understand or taken the time to help me understand, and to all those people I am so thankful. I’m also thankful for days such as World Autism Day and media coverage that helps to raise factual awareness of what autism is and how it effects people. So, I was wondering, hoping, if I might ask you all to take the time to learn something new today and read the following message from my friend Karen, who can be found on Twitter at @cherriemayhem. Thank you, I know that is means so much to me when people are autism aware, I’d like to think we could all be 22q11 aware too. xxxx
Over to Karen:
Here’s a short (ish) take on 22q11 and what it means for Samuel and me.
Chromosome 22q11 deletion syndrome is apparently the second most common chromosome syndrome after Downs, however, unlike Down’s, generally people no nothing at all about it.
Samuel was born with a submucous cleft palate, as are many 22q11 kids. This meant that as a baby he could not suck, and that i could not breastfeed him. However, this wasn’t diagnosed at birth and his poor feeding was put down to my inexperience as a first time mother. Samuel suffered many illnesses as a baby/toddler, spending periods in hospital with croup. After investigation they found that he had narrow airways, but still did not find or diagnose the cleft palate or 22q11.
Samuels general development was on the slow side, sitting at 8 months, crawling at 10 months, first tooth at a year and walking at 16 months. All were within normal limits though, so no one thought anything of it.
Speech was the significant factor. Samuel didnt babble like other babies and only made quiet sounds. His speech didnt develop properly, he couldnt make many of the sounds needed to be understood. He couldnt say the consonants. Cat was ‘a’, mat was ‘ma’, cup was ‘u’ dog was ‘o’ etc. He was referred to speech therapy at 3 years old. It was agreed that his speech was very nasal sounding and he couldnt blow, he couldnt even blow candles out on his birthday cake. He also still found it hard to suck, Samuel has never liked drinking through a straw, even now he will take a straw out and drink straight from a glass.
At 4 years old we got a referral to a specialist speech and language team at Salisbury Hospital. They carried out a special type of video x-ray and found the submucous cleft palate. They also were aware of the link between submucous cleft and 22q11 deletion, so carried out a FISH test. Sure enough the result came back positive. 22q11 can be passed on by a parent, but it can also just happen. Samuel’s dad and i were both tested but both negative.
Once Samuel was diagnosed i was sent home with the name of a good website to find out more about it! The genetics team made arrangements for some further tests on his heart, kidneys and calcium levels, all of which can be affected, and the speech and language team booked Samuel in for an operation to repair his palate. Thankfully Samuel is lucky in that he has no heart problems (many 22q11 kids have heart issues).
The operation on Samuels palate did nothing, and a second operation was done the year after. Still not much improvement and speech therapy sessions are few and far even now!
Of course in all this Samuel started school. He couldnt read or write, and the teachers and other children could not understand his speech. The SENCO was rude and unhelpful, and when i asked about the process for getting a statement of special educational needs she told me i would never get one for Samuel. A year later, after myself requesting the the LA carry out a formal assessment, i had a statement for him giving him 10 hours additional one to one support each week.
Samuel moved schools soon after. His statement has been reviewed a couple of times and he now has more hours one to one….in fact he virtually has full time one to one support or small group work. At his last review i requested a change of school to a special school as i feel Samuel needs more specialised help, and as his teachers are clearly saying that he could not cope with mainstream secondary school, i feel that it is better he be moved now so that he has time to settle in and also to avoid him becoming increasingly reliant on one to one teaching.
He can read short words and has grasped phonics and sounding out words at last! He can write very neatly but he is slow and it hurts his hands due to hypermobility. He cant put a sentence together yet without help, but he can spell some small words. His maths is at a basic level. He can add up single numbers, and he can do his 2, 5, and 10 times tables. He’s a good 2+ years behind his peers educationally, and socially even more.
Samuel’s speech remains unclear, and it is apparent that he doesn’t have a very good understanding of language. He thinks very literally, so asking him to pull his socks up in the way we would mean it would actually lead Samuel to bend down and try to pull up his socks.
Samuel still wets at night. Its frustrating. He sleeps so heavily he just doesn’t wake to go and his body cannot hold on. This means wet bedding every morning and Samuel has to shower every day, which is an issue as he doesnt like to wash. Havent yet figured out why, he says he doesnt like the water on his skin (although he lives swimming).
So this leads me on to behaviour. We have good and bad days, then we have really bad days. I have tried all manner of behaviour and discipline techniques but none work, or if they do they only work for a couple of days. Then we have the obsessions. Samuel becomes fixated on something and we cant get him to concentrate on anything else at these times. His obsessions will wake him in the middle of the night. Samuels concentration is poor anyway, but his varying obsessions distract him even more, at home and at school.
Physically, Samuel is short for his age, but stocky. One of his obsessions is food and i have to keep a careful eye on his eating. He’s generally well now, so i think his immune system has built up over the years. He gets leg pains sometimes, this is caused by tight hamstrings. His gross motor skills are. Ot much better than his fine motor skills. He has leant to do buttons and zips but is slow, he cant tie laces. He cant ride a bike without stabilisers. He cant run very fast and he has poor muscle tone.
For me, i find 22q11 is a never ending learning curve. We know what Samuel is struggling with now, but we have no idea whether anything else will crop up, or if he will make any significant progress. I have days where i feel all fired up and ready to fight the next battle (as i have had to fight for all the medical and educational help for him), and then i have days where i feel im losing the battle, that it all seems so unfair and i dont have the energy to keep fighting.
I hope this gives you a little bit of an idea about 22q11