I missed a call from the geneticist. I kicked myself when I listened to the voicemail asking me to call back knowing they’d have left the office by now. Jaxons geneticist had recently sent more bloods to test for Bartters Syndrome.
If you don’t know the back story to this, he struggles significantly to maintain his electrolytes. In fact, he doesn’t control his electrolytes. He has been on sodium supplements since around 6 weeks old. The doctors kept trying to wean him off but every time they would drop again so he ended up on a constant twice a day supplement.
During Jaxons first 6 months his potassium would also drop but would be corrected each time with supplements which he would successfully wean off after a few days, and would last a few months without. Until maybe 2-3 months ago when it became dangerously low and took 3 weeks to correct and successfully maintain with supplements six times a day.
Alongside his electrolytes, Jaxons chloride is often low and his urea high. Plus multiple other abnormalities such as bicarbonate and creatinine being high.
Essentially, his kidneys are not doing their job. A quick biology lesson will tell you that your kidneys are filters for your body. They keep what we need and dispose of what we do not. Jaxons are not doing that and the best way the nephrologists (kidney specialists) can explain it is that he has ‘leaky kidneys’ (no comment).
A few months back during a stay at Glenfield hospital one of the doctors asked me if Jaxon had Barrters Syndrome, or if it had been looked into. I was baffled, I’d never heard of it and told him so. He didn’t say anymore, he seems to not want to intrude. He was a fellow from another country working in cardiology hospital. However, I looked into it and Jaxon ticked all the boxes. Persistent low sodium and potassium, high urea.. even down to me having polyhydramnios in pregnancy (excessive amniotic fluid).
When we returned to Nottingham I mentioned it. It was said that it was unlikely.
Our next geneticist appointment I raised it. In the meantime he had heard from Nottingham about my queries and had looked into his blood results. The difficulty with him being based at a different hospital meant communication wasn’t it’s best and he wasn’t always aware of what troubles Jaxon was having. For example, if he was admitted for a urine infection he may know that but if he had trouble with his electrolytes during the stay, that may not be passed across (Jaxon just has too much going wrong at all times to keep everyone updated, its understandable).
On arriving at the appointment he asked me what I thought about Barrters Syndrome. This is a common occurence with the good doctors I see. They value me as Jaxons mother, main carer and all around Jaxon expert. I may not have a medical degree but I could have a masters in Jaxon. So we work together, my Jaxon expertise with their medical knowledge can work fabulously. Anyway, the Dr pulled up a graph. The graph showed all of Jaxons blood results on a scale of normal ranges. It was WILD. They were all crazy abnormal. He informed me he hadn’t known to look at this before because he hadn’t been aware of how often the problem was occurring but it definitely warranted investigation.
The geneticist explained to me that there are different types of Barrters Syndrome. The type he would expect, if Jaxon had it, would be the classic type. This took polyhydramnios out of the symptoms because that was for another type.
Interestingly, to the geneticist and my ears too, for Jaxon to have Barrters he must have the gene error on both chromosomes. This would need both me and his dad to carry one and for both of us to have passed it down – poor kid! However, the location of the gene error on chromosome one, is exactly where Jaxon has his deletion (from the 1p36 deletion syndrome). Therefore, Jaxon only needs one parent to have passed it down for chromosome two to have the error. Does that make sense? Genetics is all very complex, it’s the hardest part of Jaxons medical problems for me to understand.
That all being said, the geneticist explained it was highly unlikely for Jaxon to have Barrters Syndrome. It’s almost unheard of for a child to have TWO syndromes.
As the weeks passed by waiting for results, Jaxon had many other problems. If you follow my Instagram you’ll know he had an operation and spent some time in HDU. Those events aren’t what this blog is about but he went into HDU for dehydration. High urea is an indication of dehydration, so that high urea he always has tells us he always needs more fluids and his body doesn’t manage his water well. During this time his output (urine) rocketed. His output was around 1400 mls a day, that is what you would expect from a grown adult. With a feeding plan that put 1000 ml IN, how was he losing so much?! It gets really difficult to balance and is complex to explain but he was having around 100mmol of potassium a day during this period (an insane amount for a baby). Losing that much fluid means throwing away a lot of needed nutrients.
However, very strangely, during this time his sodium went high. High sodium or potassium are as dangerous and they are low. The difficulty with sodium is that if it goes high and then drops too quickly, it can cause brain damage – yes, my worries are never ending. So that had to be managed very carefully. It did come down but what was odd and brought to my attention is that Barrters syndrome struggle to get their sodium up to normal, so high sodium would imply he does not have Barrters. It threw everything out. They had been treating him as if he had Barrters, using those guidelines but not specific medications incase it wasn’t. Now, it seemed even more unlikely he would have it.
So we return to the voicemail I received. He was back on a ward at this point with sodium normal and completely off sodium supplements for the first time in around 8 months. Instead now with a higher potassium supplement. If it’s not one, it’s the other right?! I returned the called and the familiar voice told me Jaxons tests had come back positive for Barrters Syndrome.
It wasn’t a huge deal for Jaxon medically. If anything it would just stick a label on something adding awareness and understanding. Instead of saying ‘he struggles with his sodium and potassium, he’s got ‘leaky kidneys” on an admission to A&E, I would say he’s got Barrters Syndrome. Much more understandable for someone looking at him that didn’t know us.
But it was another diagnosis, another positive. I just couldn’t help but feel deflated. It’s like fighting a losing battle constantly for 11 months. I’m tired. This poor baby. What on earth have I brought him into?
A few days later the geneticist came to see me with the nephrologists, as the nephrologist is the one specialising and treating the problems Barrters is causing.
It wasn’t hugely insightful. The geneticist told me he believes a 1p36 deletion syndrome patient having Barrters Syndrome as well, is unprecidented. It’s extremely rare and though he had the indicators, he is still suprised. The nephrologist explained their are other medications to try and manage it but as he was currently stable they would stick to that plan and adjust as necessary. The problem is most medications have their side-effects and so it’s choosing the best for Jaxon and weighing up the pros and cons.
At the end of the meeting the nephrologist spoke quietly to the geneticist. Obviously I was listening in. The geneticist came back and informed me there is a UK government project being done called the ‘100,000 genome project’. It focuses on rare disease and will enable new medical research, read more about it here. Due to Jaxons multiple rare diagnosis but mainly his heart, he would qualify for a place, if I wanted him to. I believe knowledge is power. However, I also believe in some cases (eg. his heart) ignorance is bliss. Weighing it up, I agreed and we’ve both sent our samples. It may be that we get no further results and infact, our tests just help another family one day.
So there you have it, our latest diagnosis.
Thank you for reading.
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