26/11/2025
It's been a very tough day; we went to Sheffield Children's all day. 9:30am to 4:30pm for the multidisciplinary appointments. Here's the updates.
We had Obs (BMI, ECG, BP, pulse), then cardiology. Then DEXA scan, then metabolics/endocrinology, then neurology, then respiratory physiology, then respiratory, then a blood test.
Obs - 39kg (6st 1lb)... he's put on just short of a stone in 4 months, almost 2 stone in 11 months. He's slightly taller but measuring shorter than he should. Blood pressure sitting nicely, pulse on the higher normal side but not worried. ECG as normal as it can be.
Cardiology - ECG confirmed okay. Echo as normal as can be. No action required, but after his 13th birthday next November his lisinopril will increase and a beta blocker will be added onto his medication regime.
DEXA scan - uneventful, he enjoys laying there for half an hour in a warm room!
Metabolics/endocrinology - here we go... they've spotted some spinal damage in the upper thoracic region. They are now preparing to give bisphosphonate infusions as his bone density has reduced some more. This is due to his daily steroids use, known for reducing bone density, these infusions allow calcium to support vitamin D in better and more efficient bone growth production and density. The metabolics consultant will know more when the radiologist reports back. If he gives the go ahead he will have an infusions every 3 months and then every 6 months. He will be required to go on his emergency medications after the first 2 sessions at least as it can make the boys quite poorly. We will know more about the grading of his spondylolthesis with this report, too.
Neurology - his physio assessments readings were faster than the last appointment in June, which sounds great but his abilities vary day to day, today was a good day for his mobility despite his ongoing mammoth battle with it. They are hoping that Grimsby wheelchair services will offer the opportunity of a mobility scooter, I queried self-propelled wheelchairs but unfortunately his arm strength is not there to allow for this. They mentioned that we can increase steroid dosage but currently optional, I declined but will agree to an increase in 6 months when they see him again. I have also declined an upcoming, to be confirmed and approved by NICE, a new drug coming. They are ultimately happy with him but expressed the need for me to have the hard conversation with him, phone appointment for that booked for Friday.
Respiratory physiology and respiratory medicine - needs another urgent sleep study before Christmas due to some strange symptoms. His lung function tests were a breeze but they did stress that they aren't 100% accurate and we are to stay proactive in spotting anything new. They're happy with him but have given me a number to call if I see anything more, that one feels quite unsettling as though they are expecting something to happen soon but we keep moving.
Bloods - all hormones are being done as I've noticed small parts of puberty beginning, but due to his stunted growth height-wise they need to check it out. They also added bloods to check that he is suitable for bisphosphonate infusions.
It has been an incredibly hard day but I'm extremely proud of his resistance and bravery today. Neither of us could do it without the loving support of my Jack ❤️
