Finally a diagnosis?

2018 – What a year it’s been – Archie turned 11, yes 11! Wow, all these years have passed since he was six weeks old and I didn’t have a clue what and why my boy had his difficulties.

On 3 January I got a phone call from Archie’s geneticist to say they had found it. She was so excited to give me answers. She had been with us on this journey for eight years. We booked an appointment to discuss the diagnosis for the 10th. Of course she told me what it was so I could look some things up before, but she warned me it was very rare and not a lot was known about it.

I didn’t know how I was feeling – it was strange to finally have answers. Nothing much had changed with Archie over the years anyway except since the summer of 2017 Archie had been poorly on and off and in hospital with his gastro issues more and more.

Lately his heart rate always seemed to be high. We plodded along as always and then in May he was poorly again and that has continued until now really. With more information to go off, we were slowly understanding why things may have become worse (puberty being one reason).

Archie has a mutation on his mTOR gene. It’s associated with growth, cell proliferation, insulin, energy, tumours, how your autonomic system works and onset of puberty. I was warned it would happen rapidly and that weight gain would be fast too. We found out he was one of 24 others in the world when he was diagnosed and he is now roughly to date one of 33. Archie started secondary school – another big milestone. Leon left school and smashed his exams and started his apprenticeship as a chef – it was a busy time. Archie continued to be unwell on and off and just not the happy boy we were used to.

On 11 October we visited a lovely geneticist in London who specialises in this gene and other over growth conditions. In May Archie had his first tonic clonic seizure in his sleep. I was out so never saw it and we put it down as a one off, even though Archie has always shown high risk and electrical waves of someone who potentially has epilepsy. Fast forward a few months to Sunday 11 November at 8:50pm and Archie had another seizure, again while sleeping. This time he stopped breathing. He went blue. It felt like a lifetime but was only a short period really when he started breathing again but his breathing was very compromised. The paramedics were amazing and got him on oxygen as soon as they could.

This has hit me so hard. I thought I was going to lose him. He is recovering well but still tired and when going to sleep seems restless as though he is frightened to go to sleep. As he is non-verbal it is very difficult to know how he is feeling.

We now know Archie’s diagnosis of Smith-Kingsmore syndrome is potentially a progressive condition and we have been warned to be vigilant; he is now waiting to see specialists in cardiology, endocrinology and immunology to look at different areas of his health.

2018 has really highlighted to me that our local hospital are just not specialised enough to deal with Archie and in conjunction with his lead paediatrician we have requested a referral to Birmingham Children’s Hospital rare disease centre. We have also now been asked to fill in a children and young person’s advance care plan. It was suggested maybe it’s time to get support from a children’s hospice – yes hospice – they are not just about end of life care, but support for the whole family. This has been a difficult time to get my head around emotionally but the referral is in and we just need to see if we meet the criteria now.

Eleven years of no answers. Not knowing was a difficult journey but having a diagnosis now seems more of a difficult one.
I feel so alone but I know I am not. I found a Facebook group with others whose children also have SKS. My own health is not great but I continue to plod along. Archie is still Archie and whatever is now thrown at us we will deal with it. He is happy most of the time and if I can get on top of his gastro issues again that will be great.



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