This month we are profiling BBSOAStrong, 9-year-old Andrew, from Scotland, UK. Mum, Karen, shares her story of living life with her incredible son.
Can you start by introducing yourself and telling us a little about your family?
My name is Karen Caie, married to Alastair Caie, mum and dad to Andrew and Emily. We are from Aberdeen, Scotland. Andrew is 9yrs old and has a comorbid diagnosis of 22q11.21 duplication syndrome and BBSOAS.
When was your son Andrew diagnosed with BBSOAS, and what led to that diagnosis?
When Andrew was approaching his first birthday our Health Visitor pointed out to us that Andrew was missing a few of his first Milestones, i.e. rolling over, sitting, pulling to feet, attempting to walk or speak etc. And recommended he be seen by a pediatrician. We were first time parents and obviously not very sure when a lot of these Milestones should have been met. Andrew was seen and his Dr realised that there were just too many signs to "watch and wait" and decided that he should be sent for genetic testing. Fast forward into COVID and one set of results later, it was discovered that Andrew had 22q11.21 duplication syndrome which he had inherited from his dad (who shows no symptoms). The geneticist then decided that Andrew, although meeting a few of the criteria for this syndrome, and his dad showing no signs must be suffering from another condition. Again, after quite a long wait and yet another geneticist later, they were able to prove that Andrew also has BBSOAS. And when this was discussed with us we realised that Andrew does indeed fit with approx. 80% of the main symptoms associated with BBSOAS. This was at around 7yrs old.
It is difficult to know or separate many of the symptoms as some are shared i.e. GDD, learning disabilities, autistic traits but some are very much 22q i.e. hypospadias and undescended testicles. But some are very BBSOAS, i.e. mouth stuffing, CVI, hypermobility, unable to produce tears or sweat much/regulate his temp etc.
What kind of support or resources were available to you at the time of diagnosis?
Sadly, once we were given both diagnosis, as they are both rare, no one really knew much about the conditions. So we were, in effect, given information printed from or read from the Internet. Also, annoyingly, we found out too late, due to COVID that 22q11.21 could cause issues with major organs but because there had been a huge delay we weren't given any scans etc. However, the good news taken this was that we were assured that he would probably have shown symptoms of these by now and similar with BBSOAS and any issues with major organs.
It felt like there was not a huge amount of resources available to us, specifically with Andrew's conditions. We knew of a few charities that provided meet ups or activities for children. But we found ourselves in a difficult situation as there was many support groups for children with autism or life threatening/ life limiting conditions but none with rare conditions such as Andrew's.
Follow ups for Andrew since these duel diagnosis have been regular appointments with a pediatrician (various), a physiotherapist who helped to get him walking, an occupational therapist for help with a correct chair for school, cutlery for school and a toilet chair, regular Speech and Language Therapy (SLT) input and regular visits to ophthalmology and opticians - who again has never heard of BBSOAS and again read from Internet and agreed a diagnosis of CVI without any testing as none is done in Scotland. Andrew was always very clumsy and we put this down to his hypermobility but now realise it is more likely CVI. He also has astigmatism in one eye - unrelated to either condition. Andrew has since been released from many of these services as its now thought that there is nothing much more Andrew "needs" from them except SLT and Vision Support (however I did recently ask for that support to be put in place again) but that they are all open ended so if we ever felt we needed any back we can contact them direct and get seen again very quickly i.e. we got a very quick appointment with SLT regarding his slow swallow when we needed one. Andrew's learning disabilities are now managed in school, he attends our local Additional Support Needs (ASN) primary school and he luckily is actually a very healthy boy, he eats like a horse and drinks like a fish. He has none of the more "medical conditions" associated with either of his duel diagnosis i.e. liver/kidney/heart issues or epilepsy. He wakes early in the morning but gets 9hrs sleep, so no help there.
Navigating a rare diagnosis like BBSOAS can be overwhelming. What helped you most in those early days?
By the time we had received the BBSOAS diagnosis we were very relieved as previously we had been quite heartbroken with the initial 22q11.21 duplication syndrome. I remember sobbing initially and then went through a stage of grief - grief for the life that he would never had, that we had always envisaged for our child. But we were made of stronger stuff, I am a teacher myself and basically wrote Andrew's Care Plan myself that helped get him into an ASN Nursery. I don't know how Andrew would have coped in Mainstream or how Mainstream would have coped with him. We were actually a little relieved when he was diagnosed with BBSOAS because BBSOAS was much more like "Andrew". It was like a light bulb moment where we went, "Yes! That's him!" Right down to the mouth stuffing (which we had to explain meant EXACTLY what it sounds like to the geneticist, after she'd had to explain some of the more complex sounding terms to us!)
What’s one of your proudest moments with Andrew so far?
Andrew makes us proud almost every single day in many, many ways. However some more examples are; he is learning Makaton (British simplified sign language) with me and has used it spontaneously, he is learning to use his AAC talker device as he is completely non-verbal but can vocalise his feelings with either screams/babbling/giggles. Andrew can read although he can not verbalise the words be can recognise and find words and will not let you read a wrong word (which he finds hilarious). He can skip count most of the times tables. He can feed himself. He can swim and keep a float on his back (very comfortable in water). He can climb to the top of a high climbing wall. He can not only walk but can jump now after a short burst of rebound therapy. He can ride a trike. He can construct a sentences and sequence and order events from a story. He can take off most of his own clothes and helps to dress himself.
What keeps you motivated and strong as a BBSOAS parent?
As BBSOAS parents we've have always vowed that we give Andrew the best life he can possibly get. Andrew is kind, affectionate, funny and a rascal and he deserves the very best we can do to make his life more comfortable. Andrew is always given choices and included in any decisions that immediately affect him. He is never missed out in family activities or opportunities. He will never want for anything as long as we are around. I am a one woman campaigning machine for Andrew (with dad's backing) and I get as much support as I possibly can for Andrew. I am also an ASN teacher and have seen first hand what it's like for pupils like Andrew and how they need to have someone in their corner advocating loudly for them. Our motivation also comes from other people's lack of understanding or consideration of children with disabilities. Some people often say "oh I'm sorry," when they hear about Andrew and I really get angry about that. He's BRILLIANT thank you. He's the kindest, gentlest, most empathetic soul you'll ever meet.
If you could go back and speak to yourself on the day you first received Andrew’s diagnosis, what would you say?
If I could go back to ourselves on the day of the first diagnosis, 22q, I'd say, "It's alright, it's going to be hard but he is the most amazing wee man you'll ever meet." And with the BBSOAS diagnosis, "Don't worry that you don't know what it is all about yet, but you will. And it doesn't change Andrew - it just explains him perfectly!"
Is there anything you’d like other parents or families newly facing a BBSOAS diagnosis to know?
To parents of newly diagnosed children, a diagnosis of any kind is scary and overwhelming and difficult to get your head around. Give yourself time - be kind to yourself and each other. But then.... it doesn't matter that much – your child is still an amazing human being and you will find the strength to face whatever challenges the condition throws in your way.
Andrew has a point mutation in the Ligand Binding Domain (LBD)