As you know, we're supporting Rare Disease Day here at SNJ both because it's very important and also for our own very personal reasons. (See Debs' story here) (See Tania's story here)
But there is one other lad in my family who continues to be a absolute super-hero. My nephew, Dylan, who is just five, has been fighting Nephrotic Syndrome, a rare kidney disorder. I've written about him before on my personal blog when last year, he had to undergo a punishing round of chemotherapy to try to bring it under control.
Today, to raise awareness of Nephrotic Syndrome for Rare Disease Day my lovely cousin Sam updates us on his story and what it was like nursing her beloved boy through chemo..
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This handsome young man is my five year old son. Doesn't he look great!
He's your typical young boy in many respects - he loves to play football, he does Taekwondo, he's learning to swim, and loves playing with his super heroes. His smile can melt your heart, his laugh can sooth your soul and his cuddles can leave you feeling fuzzy with love for him.
Looking at this photo of him you would never realise that he suffers from a rare chronic kidney condition called Nephrotic Syndrome. You'd think that a chronic kidney condition would be visible, that he'd look sick, but you can't see any sign of the everyday battle he fights.
Two years ago we discovered that for some unknown reason, instead of his immune system fighting off infections, it instead attacks the filtering system of his kidneys.
This means that vital proteins pass from his blood into his urine and results in high levels of oedema (fluid retention), high levels of cholesterol and potentially high levels of blood pressure. Relapses could result in scarring to the kidneys and for some children this leads to kidney failure, dialysis and waiting for a kidney transplant.
The cruelest aspect of Nephrotic Syndrome is that in a high percentage of children who do have a kidney transplant, the disease returns to attack the new kidney - it is a treatment option but not a cure. For our son, the worry of relapse is constant - even a cold could lead to something much more serious.
My son's first year after diagnosis was a tough one for him and for our family. He experienced several relapses and with each one my hopes for Nephrotic Syndrome to be an infrequent intruder into our lives slowly died.
Initial treatment for NS is a very high dose of a steroid called Prednisilone and while we are grateful that he does respond to this treatment the side effects can be awful - horrific leg pains, stomach ulcers, insomnia, anger and tears, insatiable appetite and weight gain.
Dylan's diagnosis soon included the label of him being a Steroid Dependent Frequent Relapser and this time last year we faced an awful decision about which second line medication we should use to try and break his dependency on steroids.
We went to see his nephrologist armed with 43 questions and walked out of the appointment with tears in our eyes and the decision made that he would try a chemotherapy medication called Cyclophosphamide.
However could MY SON need chemotherapy was the question that screamed through me! We were terrified of the potential side effects, but we hoped that he would have a long period of medication-free remission and that the worry of his condition could be banished from our lives.
It was not to be. Sadly he relapsed only nine weeks after he had finished all his medication - not quite the long period of remission we had desperately hoped for and we were devastated.
Since then we have taken the positive view that he has benefited from the chemotherapy - he has managed to remain well since and has been medication free again for ten weeks which is the longest period of medication-free remission he has ever achieved.
He has enrolled in a medication trial and takes six days of a low dose of Prednisilone (or a placebo) when he has two symptoms of a cold - so far he has had three short courses of that medication and thankfully no relapses!
Moving forward, thinking positive
Dylan looks so good in this photo because of the our decision to give him that chemotherapy medication - it was the hardest decision of our lives. Cyclophosphamide is a medication so toxic that I had to wear latex gloves to give it to him, the cups he drank it from had to be thrown away - yet every morning l encouraged him to drink it!
A photo of him taken during this time last year would show a very different perspective of his illness and a boy who was showing his daily battle on the surface - a chunky little boy with a glowing red steroid moon face.
He still gets tired easily and complains often about feeling nauseous and poorly. We are lucky that his school is extremely supportive - he has wonderful teachers who adapt his day to his needs at that time. His confidence slips when he's feeling poorly but they help him get back on track when he feels well.
He is on their register as having special educational needs due to his medical condition. We know that not all schools are so supportive and that some are unable to see the constant battle that goes on under the surface of Nephrotic Syndrome children.
We don't know where our son's journey with Nephrotic Syndrome will take him or will take us as a family. But we do know that he will face everything it throws at him with amazing strength and resilience - he is our super hero!!!
For more information on Nephrotic Syndrome please visit The Nephrotic Syndrome Trust Website
Tania is an experienced broadcast and print journalist & author. She also runs a PR, web & social media consultancy, SocialOro Media.
Tania is a rare disease & chronic pain patient advocate with Ehlers Danlos syndrome.
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My son was born with congenital nephrotic syndrome 🙁 we lost him at 8 weeks. The doctors failed to diagnose him, they said that he had a stomach bug
My beautiful little girl has recently been diagnosed with NS. She hasn’t responded to steroids and doctors are now wanting to try cyclophosphamide. I am absolutely petrified and don’t know what to do, say or think. Niamh is a bright , beautiful, happy 3 year old everyone who meets her falls in love with her and her cheeky smile & laugh immediately. I’ve never been so scared in my entire life . I’m meeting with drs on Monday to discuss Niamhs treatment further, any advice would be much appreciated.
I’m so sorry to hear that your little girl has been diagnosed with NS and has been having such a tough time. My son is the boy in the article above and l too felt terrified at the thought of him having cyclophosphamide but it has proven to be a great choice for him. Some children have years of medication free remission following completing treatment and l know of some who have never relapsed again after it. My son has not been that lucky but now he only relapses a couple a times a year and he tapers of the steriods without a problem – which is great compared to the frequent relapses he used to experience with no time medication free. The evidence base suggests that cyclophosphamide has a better success rate when it is the second line of treatment following steriods rather than being a third line medication.
Have you joined any of the NS support groups? I know isolating it can feel to have a child with NS and it can be very beneficial to be in touch with other NS families. NeST (The Nephrotic Sybdrome Trust) have a Facebook support group and if you are UK based the UK Neph Gang is also a great group to join. The members of those groups are very knowledgable with all of the experiences they have been through with their children. NeST also hold a yearly conference which rotates around the UK and as well as the presentations l always find it helpful to meet up with other NS families. .
Hello again, they said to me in the beginning that she would probably grow out of it. Have you seen any signs of that happening?
I have known of some children who appear to have grown out of it and l have met two adults who grew out of it. I am also hoping that my son grows out of it too.
Hi, My daughter is 4 and she was diagnosed last year Nov 2016 with NS after being on steriods from Dec 2015 and numerous relapses later. she has undergone chemo for 6 months now and i have been hoping that she will not relapse however i have been doing the home urine tests and it came back positive. we have sent a sample away for testing and i wanted to know what would be the next step of trying to combat or treat this. Im nervous for the outcome of the results and everyday pray that she will not have to keeping going to hospital for treatment. Please advise me….