Finally a diagnosis?

2018 what a year it’s been , Archie turned 11 ,yes 11 wow all these years since 6 weeks old and not a clue what and why my boy has his difficulties,

3rd of January I got a phone call from Archie’s genecitist to say they had found it , she was so excited to give me answers she had been with us on this journey for 8 years, we booked appointment to discuss the diagnosis for the 10th ,of course she told me what it was so I could do some looking up before , she warned me it was very rare and not alot was known .

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 summer of 2017 Archie had been poorly on and off and in hospital with his gastro issues more and more , his heart rate seemed to be always high lately , we plodded along as always then in may he was poorly again and that’s continued until now really, with more information to go off we were slowly understanding why things may of become worse (puberty been one reason ) Archie has a mutation on his mTOR gene it’s associated with growth, cell proliferation, insulin, energy , tumors, and how your autonomic system works , onset of puberty I was warned would happen rapidly , weight gain would be fast too, we found out he was one of 24 when diagnosed in the world he is now roughly to date one of 33 , Archie started high school another big milestone, Leon left school 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 use to .

On October the 11th we visited a lovely genecitist 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 , 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 now sunday 11th November at 8:50pm and Archie had another siezure again while sleeping this time he stopped breathing he went blue, it felt like a life time but was only a short period really when he started 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 loose him, he is recovering well but still tired , and when going to sleep seems restless as though he is frightened to go to sleep been non verbal this is very difficult to know how he is feeling .

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

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

11 years of no answers not knowing was a difficult journey but having a diagnosis seems more of a difficult one now , I feel so alone but I know I am not ,I found a Facebook group with others whos children also have SKS , my own health not great but I continue to plod along , Archie is still Archie and what ever 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. Just a small update and insight into my son Archie it’s been a long time since I have wrote anything .