Maria’s story – Kai

Kai and Maria

When I look back over the past ten years, it sometimes feels like a blur. My life before could have been someone else’s as it has changed so much.

Sometimes things happen in your life that set you on a different path, even if you had not planned or foreseen it. But I have always been a strong believer in fate and having Kai set me on a path that has been the best and the scariest thing I could ever have imagined.

When Kai was born, they discovered he had a cleft palate which they corrected at 6 months of age. We were told this may set him back but as he got older, we noticed that he was not hitting any of his milestones and his behaviour was very repetitive. Our specialists from the cleft team agreed this was something we needed to investigate and referred us for genetic testing on the DDD study.

After two and a half years we finally received a letter saying that they had found something. We had an appointment with a geneticist who gave Kai the diagnosis of SATB2 syndrome and handed us an A4 leaflet. She explained that his condition was so newly diagnosed that no one really knew much about it apart from the fact that Kai would most probably never talk, he would have learning disabilities and possibly behavioural issues too. As far as she knew he was one of only five other known cases worldwide.

As we walked out of the hospital, I made a promise to myself and Kai that I would do as much as I could to support him and help him achieve his potential, whatever that may be.

The next few months were like being on a roller coaster. I felt incredibly grateful that I had a name, a reason and something I could use to help fight for extra help for Kai with. The hardest part was the realisation that Kai may never talk. We may never hear him call us mum or dad or tell us he loves us. One of the biggest heart blows was finding out Kai will depend on us for all his care needs even into adulthood. Every parent thinks that their child will grow up, maybe go to college, get married and have children, having their own independence. Learning this would most likely never be an option was terrifying, although this just reinforced my original thoughts of trying to do the best I possibly could for him and made me more determined.

For the past 20 years I have been a hairdresser, along with working as a customer assistant in Tesco but after Kai’s diagnosis, then aged 5, balancing working evenings, weekends and school holidays would start to become more difficult as Kai’s needs became greater.

A few years later I decided to adjust my career to suit us as a family and got a job working in Kai’s Special Needs School as a midday supervisor and Supply Learning Support Assistant.

As I already had Kai, I felt an instant connection and had an understanding with the pupils; I knew I had made the right decision. It was like an extended family. The knowledge I gained while working there has certainly got me through some difficult days with Kai.

As Kai got older and his speech never came, I decided to enrol on a British Sign Language course. Learning BSL along with his PECS communication meant that we could help to understand Kai’s wants and needs and try to relieve some of his frustration.

It was becoming apparent that although my life was busy taking care of Kai, working and finding time for my other two children and partner; it could be very lonely being a special needs mum and I wanted to do something about it. Surely, I was not the only SATB2 mum in the UK? After finding a Facebook group with a few international parents, slowly more and more families were being diagnosed, and my support network grew.

I had to reach out to the other UK parents, we could learn so much from one another, surely, they would understand how I felt and what we were going through?

Over the past four years I have been fortunate to have arranged three family gatherings and have met the most amazing parents. They have truly been an inspiration and have supported me on difficult days, given me advice on uncertain days and shared the joyful days.

I have truly come to appreciate the smaller things, Kai has taught me determination, compassion, and kindness and now I cannot imagine my life any other way.

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Edwin’s Story – Rory

“Rory received his diagnoses at the end of summer 2018 at nearly 3, thanks to the wonderful genetics team at GOSH. Our story is probably very similar to yours and other SAS families, and so I will only very briefly go into it here.

Rory was born with a cleft of the soft palette, this was not initially detected and so he “failed to thrive” and had to be hospitalised briefly for jaundice at 6 days. Once we established a feeding routine that enabled him to get some sustenance and the cleft was picked up at about 8 weeks, we felt that he had had a bit of a ‘knock’ early on but that he would catch up. It soon became clear to Cleo and I that something else was amiss, we have two older children and Rory’s development just wasn’t the same.  It took a while for the clinicians to agree that Rory was anything other than a slow starter and we were not just overanxious parents. Having seen a myriad of different specialists trying to rule in or out various conditions on the basis of Rory’s ‘constellation’ of symptoms, we ended up in front of the cleft geneticist at GOSH genetics team, who both put us in for whole genome sequencing (under the UKs 100k genome project) but also said that she wanted to test one specific gene, Satb2, due to something we mentioned about Rory constant drooling. She told us about Glass syndrome and said it would be statistically unlikely to be this as there were only a couple of hundred confirmed cases globally and this was just to rule this condition out, but she did offer us hope that we would get an answer at some point.

We waited over the summer 2018 for the results whilst researching SAS and saw so many similarities with our child, but we were also looking at the math, with so few cases globally it had to be unlikely for it to be the cause of Rory’s condition.

At the end of the summer once we had the confirmation it was great to be able to engage with the wider satb2 family. We found that we were connected with an Australian SAS family through a mutual friend, it really is a small world. I like that with testing and new diagnosis happening all the time, we will get families with SAS children, well into their 40’s who approach the groups looking for information and answers on their recent diagnosis, without realising that their own expertise having managed their children will provide more help for those of us with younger SAS families. So please remember that with this condition only being first described in medical literature in 1989, we are all new at this and we all learning. Edwin Hodges – June 2020”

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Gayle’s story – Joseph and Daniel

Our SAS journey is probably no different to many other families. The only main difference to most being that we have two handsome boys with the Syndrome instead of one!

They have endured various testing all followed by a succession of diagnosis. There were the hospital visits, poking, prodding and all the questions but never any real answers. Were their difficulties because of an X linked chromosome fault? Was it Landau Kleffner Syndrome or the Cerebellar Vermis Hyperplasia? What? Would it affect my other two sons when they started their own families?

On top of all that we had to get on with being parents to 4 lively boys and all the extras that come with disability. Planning strategies to stop the drooling, improve hand eye coordination, to communicate, to potty train an 8-year-old. We had meetings to fight for support at school, meetings to fight to change schools, EIP meetings, meetings with Social workers, for budgets, transport, specialist dentists, therapists, meetings, meetings, meetings! Early on we decided I should give up work and become a stay at home mum or we were never going to fit all that in!

These were our wilderness years. Eventually we left all that behind us. We came to the end of the search for a diagnosis. That space on all the forms that asks “What is your child’s Diagnosis?” was filled with “Learning Difficulties “or “Global Development Delay”. The boys’ blood samples went off to Cambridge to the G.O.L.D study (Genetics of Learning Disability) with the promise that nothing may come of it and that was it. We got on with our lives.

And what a life It has been! We have seen major teenage melt downs, broken bones and received black eyes. We do not own any ornaments. Anything that can be quickly utilised as a missile or dangerous weapon is hidden away or is just not allowed into the house. Some things have slipped through the net and we have a lovely big dent in the oven door to remind us of our sloppiness. Life is tough and often we feel exhausted and overwhelmed. Then we get a lovely smile, a tight cuddle. All the small simple things in life are a huge joy and reward to us. Daniel and Joseph are hard work, but we would not change them for anything. We would be a different kind of family with different priorities in life. They made us who we are and we are grateful. Exhausted, but grateful.

One day when the boys were 12 and 16 we got a call from a very excited geneticist to tell us that The G.O.L.D Study had discovered that our boys had a mutation of the SATB2 Gene and how rare it was and how rare for sibling to have it and did we know that the main man who first discovered this gene was his colleague? It was so rare for siblings to have this mutation, could they write about it, please? We were to be written up! Woo hoo! Progress at last! We had made it! Then nothing much happened.  For another 5 years we just continued as before. Until I was doing a wee search for something online and came across Dr Zarate in the US and the SATB2 website. We contacted Dr Zarate and joined his study and in return he pointed us in the direction of the wonderful SAS families on Facebook! Not wanting to sound dramatic but it is like being reborn! Ok that is a wee bit dramatic but hey! Finally, we are not alone! Finally, we can see the faces of our boys in all the children who smile from the SATB2 FB page. There are people out there who “get it”. And it is a great feeling. We are so glad we found them. Our boys are now 23 and 20 and we are grateful to have connected with so many SAS families here in the UK through our WhatsApp group and Facebook. We share stories and advice and support each other through the hard times. We are now no longer alone in our journey.

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Hanna’s story – Noah

Noah was born November 2016 and was initially diagnosed with Pierre Robin Sequence; were told at birth he had a cleft palate, a recessed lower jaw and his tongue was blocking his airway. He spent 18 days in NICU and on day 15 we were told of his diagnosis of 2q32.3q33.1 deletion. In the January we had an appointment with genetics who mentioned the SATB2 gene was included in this deletion. I then found the SATB2 family Facebook group ❤️

He was exclusively NG tube fed for 2 months, until it was safe to introduce a bottle, then at 6 months we took his tube out for good and never looked back, he loves his food! He was an early roller but later than average with all other gross motor skills; walking unaided around 2 years old.

He loves; swimming and splashing in water, playing with his assortment of vehicles and admiring himself in the mirror or photos! He also loves his little brother.

Noah is non verbal & uses makaton to communicate and although his signs are approximated, as a family it has become easier to understand him, he loves to sign his favourite animals and learns a lot from Mr Tumble!

Noah is such a happy, sociable and curious child, and we see his determination in everything he does.

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Lynne’s story – Matthew

Matthew was born in October 2002 he weighed a healthy 8lb 10oz.

Initially he appeared to be developing normally but as he got to around 12-18 months it became apparent that certain milestones were not being met in his development  i.e. walking, talking, pincer grip, feeding, toilet training and co-ordination being amongst the areas delayed.  After a referral from the Health Visitor at around age 18 months, Matthew was referred to the local Child Development Centre.  Various assessments were carried out over the following months and years.  Blood tests were taken to try and find a cause for the delay, but no conclusion was ever found.   Matthew had speech therapy intervention, physiotherapy intervention and play therapy.

No-one could give us any answer for the reason for the delay and it was just a waiting game to see if he would ever “catch up”.

Matthew attended a private nursery for a short time when a wonderful Special Educational Needs Nursery Officer was introduced to us.  She offered great support during this time and assisted in Matthew being given a Statement of Special Educational Needs (now an Education Health Care Plan) and finding a place at a special school.  At age 4 he started a Primary Special School.  School has always been a positive experience for Matthew, giving him the correct support, accessible timetable and lessons and activities.

Matthew loves attending School. He moved on to a Special High School at age 11.

Then recently moved to another more suitable special school for post 16 where he currently attends and will do so until age 19.

In or around 2010 we were contacted by the Geneticist to ask if we would like to take part in a study being carried out by the Genetic Alliance on children with undiagnosed conditions.  This was called the DDD study.  We agreed and samples were sent off, but we never really expected them to show anything.

I had resided myself to the fact that we would never get a diagnosis for Matthew.

However, in January 2016, when Matthew was aged 13, we received notification from the Geneticist that in fact the DDD study had found a possible cause for Matthew’s development delay and learning disabilities.

“Matthew’s diagnosis of SATB2 Syndrome was born”

It took me many years to come to terms with the fact that Matthew had special needs and a learning disability.  It has been a very emotional journey to say the least.

At the beginning a diagnosis was the very last thing that I wanted for Matthew, I did not want him being labelled!  It is strange how time, experiences, emotions, and personal acceptance change the way we feel.

The ultimate diagnosis of SATB2 was an absolute blessing.  At long last after all these years Matthew was no longer undiagnosed, he finally “belonged” somewhere.

I was given contact details for the charity Unique who provided a leaflet about SATB2. I made contact with the Worldwide SATB2 Facebook group and Doctor Zarate. To find Doctor Zarate and be part of his study is brilliant.  To speak to Doctor Zarate on the telephone was such a heart-warming experience to finally talk to a Doctor who understood my Son was priceless.

Thanks to Maria Walters a few UK families got together to meet up in person, this was an absolutely amazing experience and became a yearly meeting that has grown with each year.  To be able to speak to other parents who just “get it” is immeasurable.  To belong somewhere and to be able to share experiences and journeys means so much. Very affectionately referred to as my SATB2 family.

Matthew has a severe learning disability, he is doubly incontinent, he is mainly non-verbal, he uses an electronic communication aid. He has physical disabilities he had Botox injections for tight hamstrings. He is under an Orthopaedic Consultant and Orthotics as he has a low muscle tone which affects his ankles and feet. He has leg splints to support his walking. He has scoliosis and underwent spinal fusion surgery in April 2019 to have this corrected.  He has a lack of spatial awareness and co-ordination and has had many problems with his teeth and mouth (high pallet) …..

BUT I want to celebrate the positives, of which there are many!

Matthew can read and write (something I never thought possible), he uses sign language, an electronic communication aid and he never stops trying.  He tries so hard at everything he does and always with a big smile on his face.  He is such a happy boy, he has a very funny sense of humour.

He loves chocolate cake, cookies, cuddly toys (particularly Build a Bear) anything Disney, particularly Donald Duck!  He loves Wolverhampton Wanderers football club, he loves his school friends; he loves Birthdays, Christmas and reindeers.

He loves his family and his little brother Sam, who is aged 11.

For all the obstacles that life has thrown at him, he overcomes so much, achieves so much more than I ever thought possible and I am incredibly proud to say that I am his Mom.

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