Child diagnosed with super rare condition - need a hand hold

[NameChangeForMedicalConfidentiality]

I’ve name changed for confidentiality as the condition is so rare it could identify me to anyone that knows me in real life.

My daughter has just been diagnosed with a super rare autoimmune disorder that affects 0.001% of children. It’s called Granulomatosis with Polyangiitis, never even heard of it before this.

She is having treatment in a specialist hospital right now and is thankfully responding well but I am struggling with the the thoughts of how we are going to manage this long term. She will have it for life now and the treatment is to suppress her immune system so she’s at risk of infections etc.

They say most children go into remission but it can flare up again in the future and her type is the one most likely to flare up so she’s likely to have further issues with it.

I don’t know how to cope with an immunocompromised child, how do you manage school, seeing friends, living a normal life and not be an absolute wreck with the anxiety of it?

We are avoiding calling her infusion chemotherapy at the moment to not scare her but at some point she’s going to realise as she’s a teenager, she’s already an anxious teen and she’s already struggling with being diagnosed with this and thinking ‘why me’.

There doesn’t seem to be anything in the way of support groups etc. again with it being so rare, and the only one I found is for adults as it’s even rarer in children.

There is a 30% chance she will need a kidney transplant in the future and I’m already worried about that. I feel scared about things that haven’t even happened yet and might not happen.

She is on 15 different medications and the side effects are awful for her. Some are only short term thankfully but she will be on at least 10 of them for a year or two, until she goes into remission, and at least 4 of them for life.

It’s just floored me that last month I had a perfectly healthy child and now I have one with a very complex medical condition. It feels so overwhelming and I just want to wrap her in a bubble and keep her away from any risks but I can’t.

I’m panicked because she missed her MMR booster due to being unwell and now she can’t have it at all as it’s a live vaccine and not safe for her so she’s not protected from these. I’m panicked that one of the medications she is on is brand new and she’s only the 3rd child that has been given it (under her specialist hospital) so what if there are unknown side effects that could cause more issues. I’m worried that this is so rare that medical staff don’t know how to deal with it and when she is back home the GP or local hospital may make mistakes due to not understanding it. Everything just feels terrifying right now and I don’t know how to get myself out of the spiral.

Let me see if this works

https://www.facebook.com/share/g/191M9qRyvp/?mibextid=wwXIfr

https://www.facebook.com/share/g/18HpzARSvB/?mibextid=wwXIfr

There’s one post here about a child with it
https://www.facebook.com/share/p/1NtfuFUxtK/?mibextid=wwXIfr

Have you found school helpful with informing you? My main worry is school at the moment, especially with all this news about meningitis outbreaks. They are going to put her on precaution antibiotics three times a week but I will ask about the acyclovir as well. They did test her for chicken pox immunity and she does have some as she’s had it before but they said she could still get it again anyway.

Thank you. At the moment my daughter doesn’t want people to know. She hasn’t told her friends what is going on and certainly doesn’t want any attention around it all.

Thank you this is really helpful. They said as she is PR3-ANCA positive she is more likely to relapse. Have you ever been on Avavcopan? That’s the one they say she will be on for the foreseeable future.

Have to run out in a moment so this is quick, but my husband has this - it used to be called Wegner's granulomatosis, so maybe you could try searching for support groups with that name?

He has been in remission now for 15 years, has never relapsed, and takes nothing more than blood pressure medication now. He is seen 6 monthly by the renal and rheumatology teams (usually over the phone if his blood and urine tests are OK). I can't remember the meds he was on before, one was a steroid but he's been off that for several years now.

You must be terribly worried, but I hope it might help to know that he lives a perfectly normal life now, and really only thinks about it if he's got a hospital appointment coming up. He's also had cold viruses and the like over the years, but luckily they've not caused any concern.

I have a similar condition - my vasculitis affects medium and large vessels rather than small and medium ones. The uk vasculitis fb group is brilliant and their website

https://www.facebook.com/groups/VasculitisUK/

https://www.vasculitis.org.uk/

they have a helpline too which was really useful when I was first diagnosed.

DS, 15, had an extremely rare, life-altering and potentially life-limiting diagnosis last year. By extremely rare, I mean he is one of 20 known cases, which means no targeted treatment and no cure.

12 months later I still often wake up and think it has been a horrible dream.

How have we handled it? Day by day. We have been open about most things with him and remain positive about symptom control. We have some great days and really bad days and just accept them as they come. DS has adjusted surprisingly well and is showing good resilience but we are very aware that that can change. We joke and laugh and sometimes cry, and then we get on with it.

One thing that helped me process it all was being conscious of the stages of grief (denial, anger, bargaining, depression, and acceptance) and letting myself feel rather than blocking it out.

So, when it gets really hard to bear, let yourself grieve. And look after yourself on hard days, too. Have a nap, cook or get creative, if that is your thing. Get out for fresh air when in hospital (helps with anxiety), and have something to do for those times you have to sit and wait for infusions and appointments. DS had just saved for a Switch 2, so that was a great distraction for him from the beginning, and has also since joined clubs that he found easy physically, like chess, to boost his social connections.

All my very, very best for you and your daughter, OP. Please let is know how you are both going and coping.

Very sorry, this must b e really difficult the only suggestion I have is that you need to be the expert for the gp, etc. Make sure you get and understand all the information about the condition and drugs so you can spot any potential problems and don't let anyone who knows less than you do tell you that you are wrong. And make sure you have a contact with the consultant you can reach easily.

Thank you, this is really helpful!

I have a GC on similar lifelong treatments. We were all very worried and hyper- alert to begin with but they seem to have got things right just now and as long as they have the infusions they seem to tick along OK and are now leading a normal student life.

I am sure your DD will have been on Google and found chapter and verse.

I hope that things settle quickly for her.

Take one day at a time.

One of mine has a lifelimiting condition that came completely out of the blue and take one step at a time was the best advice I was given.

Ask lots of questions, make lots of notes, but don’t expect to be an expert overnight.

Let your DD find her way - you may find she refuses to talk about it for a while, then talks a lot, then refuses to talk again. That’s ok. She’s got to find her own way.

You’ll find the path that’s right for your DD.

Can I suggest the healthunlocked forum. My husband has several autoimmune issues and the folks on there have been brilliant with advice. Especially in regards to biological etc.

I am also ANCA positive and have been since diagnosis, it’s never gone away for me so always sits in the background but I wasn’t told this would make a relapse more likely (this could be newer evidence they have). I was told if you made it 8 years without a relapse then the chance drops hugely. I didn’t have Avavcopan, I had infusions and very high dose prednisone (and the associated meds you have to have with steroids). As I was on a medical trial, my treatment was determined by the trial so might have differed to others.

They have to hit it hard at first due to how aggressive it is without treatment, especially as for most people (particularly younger patients), due to its rarity it isn’t diagnosed very quickly so is usually very progressed by the time they get in there. I found that because of how unwell I had been prior, the treatment (even with its side effects) made me feel 1000 times better. I was well enough to travel to Europe 4 weeks into treatment, and the US after 5 months. It does get much easier, very very quickly!

Wow, she’s young to have it isn’t she ? My dad had this and was in his 60s when he got it. My only advice is make sure she has a good doctor with knowledge of the illness and don’t be afraid to ask for a referral for a second opinion if necessary. My dad used to go to Addenbrooks to see someone, think it’s the national centre of excellence or something. Consultant there was excellent . Wishing her the best.

My dad was on prednisolone(sp) - a steroid. Also had chemo. He was also listed for a stem cell transplant but was waiting so long he turned 70 and they don’t do it on people over 70.

That’s helpful to hear. Apparently it’s the PR3 that makes her particularly prone to relapse as it’s a subset of ANCA. Do you know if you had the PR3 type also?

And I do understand a bit what it’s like to have a dc with chronic illness. Dd has a few autoimmune illness diagnoses now as well as another chronic/permanent condition. Nothing which requires chemo but she’s on daily meds, has spent quite a bit of time in hospital and affects her day to day life, ie there’s stuff she can’t do. She’s been really quite adaptable and I guess it becomes her new normal. She was 16yo when she got her first diagnosis, 18yo she got 3 more and another when she was 20yo.

Yes apparently affects 0.001% of children and she’s under a specialist children’s hospital now and the lead rheumatologist here said she’s the first case he’s seen in 4 years and he’s only seen 3 in his career.

Yes mine is PR3, apologies I’ve had years of abbreviating it all so often forget the important parts!

That’s really good then to hear you’ve stayed well. I’m really hoping she is the same.

She’s always wanted to do medicine herself and has chosen all her GCSE options based on this and now I worry that she won’t be well enough to work in a hospital and be exposed to the various infections in there so this gives me hope.

Also name changed as identifying. I have a family member diagnosed with this condition so can appreciate how lost you will feel as there is limited information out there. Like you none of us had heard of this and it develops so suddenly. My family member did relapse but I suspect this was due to other unconnected health issues - they have had a second course of treatment and are now recovering again.
The Lauren Currie Twilight foundation is a charity that supports all forms of Vasculitis there is some info and contacts there. I hope your daughter makes a good recovery xx

I wouldn’t go changing career plans based on her diagnosis just yet. Everyone is different, but I could very easily handle working in a hospital every day around infections (not that I do). I wasn’t even classed as “vulnerable” during peak COVID, and had to argue to get on the vaccine list because if I hadn’t, my age would have put me very far down the priority list.

She’s so young and has so many years ahead of her to work out how it fits into her life and what it allows her to do. Even if she decides being in a hospital around infection every day isn’t going to work out for her, there’s plenty of careers in and around medicine that don’t involve being in a hospital and have the same or similar educational routes. I honestly think the biggest challenges for me have been insurance 😂 Be prepared to be declined for a lot of life insurance, and to look in the right places for travel insurance!

You could try https://contact.org.uk/help-for-families/information-advice-services/

They support families with various medical conditions; if your child's condition isn't listed it's still worth a call to them.

You might find some general vasculitis fb groups have some people on with the same condition. IIRC I joined some on dad’s behalf and there were people there with it.

OP this is a huge shock just wanted to let you know that none of the secondary school jabs are live, she will be able to have whatever she missed, but I'd suggest taking advice from her hospital team about the timing so she has the best chance of creating a strong response to them.

The flu spray is live, but she can have the flu injection (not live) the next time flu season rolls around if she's still being immunosuppressed. She won't miss out on the protection.

Your daughter is lucky to have you in her corner. I'm sure you've already stepped up and coped in ways you didn't think you could. But I hope to start to see really positive results very soon.