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.

I’m so sorry to hear this, you are probably in shock, and just here just giving you a handhold 🌹
You are having to be very strong for your daughter, and that sounds so hard. Are there people to support you?

Don't want to read and run but this is such a unique illness given how rare it is it must just be blowing your mind. I am so sorry as a family this is your experience.

The thing you can do is find something positive you can control. For example, raising awareness. Doing events where you raise money towards research. This would help educate everyone around you too.

I wonder if they have someone you can go to for some support for your anxiety. I think they are all very normal worries but probably just magnified at the moment. Write yourself down a list of questions about things that concern you and arrange for a consultation with a doctor that can help you.

Sending love to you and your family. You will find strength to deal with this because that's what we do as parents and I'm sure your daughter will adapt to her new normal with outstanding resilience.

This is the hardest bit because it is all so new and unknown.

If you can, try and find a support group of people with /caring for people with the same condition. I have a rare condition and my support group (online ) helps as there is a network of people across the world who "get it".

This is an umbrella charity for people with rare conditions:

geneticalliance.org.uk/support-and-information/a-z-of-genetic-and-rare-conditions/

I think you need to be compleyely honest with your dd otherwise she will not trust you in future.

From a GP perspective, they will probably be interested due to rarity and more helpful than otherwise.

I'm sorry OP. It's really hard to get this kind of diagnosis. One of my children actually has a similar diagnosis (but not as severe) and is immune compromised. If you wanted to PM me, I'd be happy to talk a bit.

If you have a search on FB if you have it, there’s quite a few posts and support groups which are usually helpful
i recognise the condition name and I’m fairly sure it’s what my friend has
I have a rare autoimmune condition (1 in 1.5m adults) and haematology have been amazing, I’m immunocompromised for life. Was hard at first but it got easier

What a terrible shock this is for you and such lot to take in!

My advice is to let the dust settle. Try not to worry about all the unknown or go over all the what ifs about the future- just deal with the here and now. You'll find a way through, I promise.

Due to a serious autoimmune condition, I spent a few years on steroids and immunosuppressants, and other medications, at the same age as your daughter. I've looked up your daughter's condition and can see treatment options, at least in the early stages, are broadly similar. I see biologics are a treatment used, they weren't around when I was a teenager but I know they've had fantastic results for some autoimmune conditions.

I experienced some awful awful side effects too, so my heart goes out to her and what she's going through right now. 💐

Its a lot.

Similarly to your daughter, I was also unusually young to have developed the condition so likewise the support groups were all for adults, but...they were brilliant, so do make use of the one available to you both.

I'm sorry it's only one though...But, peer support is the very best; you and your daughter will become experts in her condition and the experiences and knowledge of others going through it is invaluable - even with the age gap.

And the emotional support and friendship from people who know exactly what you're through is worth it's weight in gold. You may also find that you attract other young patients and their parents so while a support group for her age doesn't exist yet, it might do in the future.

Ask her medical team if they know of any other young patients and parents who'd be happy to reach out to you. Nurses can be quite good at facilitating this short of patient-to-patient contact.

I didnt realise until adulthood that one of the benefits of being ill so young is that you get looked after by the medical teams in a way you don't as an adult. There's extra care there. Even more so as she's 'special case'.

You and your daughter will build longstanding relationships with the specialists involved in her care and they will be invaluable. Between you, you'll develop a shorthand and they will come to know her and her case well - which is really important, and ideal, for any patient.

You probably will meet doctors elsewhere who know little of the condition, but most of her care will be with her consultant led team so don't let fear of mistakes consume you. They, you and your daughter will soon pick up enough knowledge to challenge when necessary.

GPs and other hospital teams also have extensive experience of treating patients on the mediciations and treatments she is on, so while they might not know about the illness, they will understand the drug protocols and take advice directly from her team, so she will be safe.

Obviously, I am not familiar with your daughter's illness or her other treatments, but I can tell you that I did attend school while immunocompromised and I didn't catch anything.

You manage. You take the dead vaccines and reasonable precautions, stay away from people with illnesses like chicken pox and shingles. Work closely with the school.

How supportive have they been so far?

The biggest change since I was immunosuppressed is the rise in diseases like measles and scarlet fever, etc, and I get how frightening this is given that she missed her last MMR.

Your daughter's doctors are best placed to advise on managing the risk and they will tell you what to do if she's ever exposed. Masking and anti bac is really normal now so I'd recommend using a mask on public transport and other high risk areas, but try not to let fear dominate you.

How are her friends being? Has she shared much with them?

If the doctors are telling you she has a high chance of remission, that's fantastic. It sounds like they're hitting it with everything to give her best chance too?

Remember, there's a 70% chance she'll never need a kidney transplant and those are pretty good odds. We get far in life on those odds :)

She is asking 'why me?'. I'd like to give her a big hug. Unfortunately, that's just how life is. Shit happens, and it happens to good people. It isn't fair. It doesn't mean that it'll always be bad, or always as hellish as it is right now.

I'm guessing she's experiencing a loss of innocence right now? It's a hard lesson, one most of her peers won't learn before their 20s, if they're lucky.

But I tell you what...she's going to be damn resilient and you'll be even prouder of her than you thought you could be. Every achievement is going to shine brighter and when the drugs knock this bastard illness into remission its going to feel amazing.

Please, please make sure that you're both getting support for your mental health and wellbeing. Counselling, meditation, getting outside, having a good cry, or - in your case - getting pissed and letting off steam are really important.

How is your support network of family and friends?

I understand how frightening it is and my heart goes out to you all. Try to rationalise your fears. Yes there are new risks you have to mitigate, but you can mitigate them. You will find others who know what you're going through with the illness and you certainly won't have to look that far to meet other families with an immunosuppressed child.

One step at a time, @NameChangeForMedicalConfidentiality , your world has been set spinning but give it a little time, you will find your way through. 💐

I'm a parent of a kid with a rare disorder and limited life expectancy.

The very last thing I could have done is fundraise or raise awareness in the early days of diagnosis. It's not a realistic idea for most people when their whole world has been shot down.

I’m confused. You said she missed her MMR booster due between 3 and 4 and now she’s a teenager and you never tried to catch up before this?

Stay alert to Car T Cell therapy for autoimmune disorders.
Car T therapy is well established for cancer and it’s now been found that autoimmmune disorders respond extremely well.
Being that Car T has been in use a while protocols are established AND side effects are much less in autoimmune disorders than cancer.

I'm sorry, this must feel very overwhelming. Re how you can protect an immunocompromised child - I'm sure you've already realised but your family will need to get very big on infection control and strict on the ways friends and family interact with your kid. Google the swiss cheese method and implement all the steps. Good quality ffp2 (or given how severe her condition is, probably ffp3 initially) masks in all public places indoors (eg supermarket, public transport etc) will also be key. Facemask store has next day delivery. If you google your town name or county plus 'mask bloc' you will probably find a group that will give you sample packs to try so you can find the ones you like best - eg the trifold/fish shape ones touch your face less than bifold ones etc.

If you are can afford it, it might be worth investing in a Pluslife testing machine plus tests - it's the most accurate home testing you can have for all the viruses they can test for which is useful eg for other family members who might have been exposed to something from a crowded place and want to be sure before being around her. (It was really excellent help and so reassuring for a friend who had intensive chemo).

Fuck. Fuckity fuck fuck.

My 9 y/o has a 'rare' genetic condition but not this rare. I haven't told him yet.

No advice, just hugs & thoughts

So I have an incredibly rare disease too similar to this actually. My advice is talk to her. Also she needs to know she’s on chemo because sadly depending on which one she’s on she’ll lose her hair and she’ll need you to help her cope when the time comes. Fingers crossed she’ll get into remission. It feels like you’re in a black hole currently and can’t get out and that’s normal. It’s baby steps. When you go out to the shops etc wear masks so you can’t pick up anything for example.

It’s utterly terrifying when you first hear your child has a lifelong, chronic condition. My daughter is 9, she has autoimmune hypothyroidism alongside CKD2, nowhere near as rare as the condition your daughter has been diagnosed with, but there may also be dialysis and a kidney transplant in her future. If you’re looking for support, there is a great community on Facebook for parents of children with renal disease, there may even be people in the group who may be familiar with your daughter’s condition. It’s called KDARS for kids. This group has been an absolute lifesaver since my daughter was diagnosed last year, there are so many knowledgeable people who can talk to you about your daughter’s kidney health. I know everything is overwhelming at the beginning, the worry never goes away but you learn to live with and it becomes your new normal. Feel free to DM me if you need someone to chat to x

This. It's really not fair to expect parents, especially when it's new, to become 'heroes' overnight. They are already dealing with the day to day without adding expectations they will become ambassadors and fundraisers and awareness pushers. I don't push awareness because my child has a right to the level of privacy they prefer. That means not everyone has to know what is happening or the details of it. If they want to share, they will in their own time, with who they choose. The whole community isn't owed their story with a view to awareness.

Hey. My son’s been in remission for one of his health conditions for a long time now but he’s got 2 conditions, one of which he’s had since he was born and will never be in remission from that one. The best advice I can give is to get as clued up on everything as possible. GPs and A&E doctors ask us what medication he’ll need when he’s unwell, and unfortunately it’s not as simple as choosing out of a couple of meds, it’s a very complex thing where we have to weigh up the pros and cons and take risks involving his health. Which is why I say get clued up. With our son I know that if he’s not TOO unwell we can try some of the more gentle meds that won’t guarantee to work, but will be better long term for his body. It won’t be guaranteed to work but if he’s not so unwell that it’s dangerous for him, then we’ll go with that option and watch him like a hawk. If he’s super unwell and we need to just get guaranteed results asap (despite the fact that long term isn’t the best for his health), then we go for the super strong meds. It’s a really shit situation and I just want the medical experts to take control and make these decisions when we’re in that situation, but ultimately the parents know best and they look to the parents at times like that.

I know nothing avout the condition but my dd is on chemo to suppress her immune system due to having another auto immune condition and I absolutely get your worry.

However, it does very quickly become normal everyday life and easier to manage.

Dd also cannot have live vaccines.

Honestly, you keep everything as normal as you can. Most illnesses will be fine, colds etc they just might take a bit longer to get over. The things to worry about are measles and chicken pox. Make sure the give you acyclovir to keep at home so you can start anti vitals as soon as you get wind of someone else with symptoms. Make sure school are fully aware too as they will need to inform you if any cases are reported. Obviously they cannot tell you who but they should know if there has been a risk of contact in school.

Happy to chat more if you want to message

I was diagnosed with the same condition at 22, and now live a very normal life at 35. My story was very similar at diagnosis, but I hope it helps to tell you from my experience that it gets much much better.

Age is on your daughter’s side as most people diagnosed with GPA are much older and don’t respond as quickly to treatment. Given how rare the condition is, I presume they are still running the various medical
trials for treatment, I took part in all of them. The first year or two of treatment and everything that comes with it (exhaustion etc) are not a representation of the life I’ve lived. In remission, my life is no different to anyone else’s. I am very active, play sports, can have live vaccines, travel the world and to be honest it makes no difference to my life other than having to get the flu jab and insurance being a little more expensive!

I too was advised I may be on some medication for life, which turned out not to be the case, I don’t take any and am only monitored by the hospital once a year (and by phone, not even in person). Despite having a compromised immune system, I seem to fend off the usual colds, bugs etc much better than any friends or family. I couldn’t tell you the last time I had a cold, and my partner has had 4 in the last 12 months.

I relapsed once around 8 years later, and treatment was much shorter, much quicker and had no side effects. I continued my lifestyle, working full time, travelling etc during treatment and I very quickly entered remission again.

Yes it’s a life long condition and the start is tough, but I can tell you that some people do live very normal and wonderful lives!

I'm curious why you haven't told him?

Its very hard when your kid gets a diagnosis like yours, you have my sympathies. The treatments for autoimmune conditions have come on tremendously in the last 10 years so they will eventually get a combination that will help. Be honest with her, now that you have a diagnosis and a treatment plan you can talk through what happens next rather than her thinking the worst.

My DD has an autoimmune condition that was diagnosed when she was 6.

She is currently on several immune suppression medications with varying side effects and the worry of her catching something is constant but I'm trying to balance it with her having a normal a childhood as possible. I've been honest with her from the start and she is now good at advocating for herself.

Be aware though that your GP may not be on board, mine isn't, won't prescribe anything the consultant sends through as most of the medications for her condition are only licensed for use in adults.

I haven’t found a GPA support group? Nothing comes up when I search it on Facebook. Could you link it if you know of any?

I’ve got the vaccine wrong. Whichever booster they have in year 9, I thought MMR. She’s had all her vaccines up to date but missed that one.

So helpful. Really great contribution to the thread 🙄🙄🙄

We are told she shouldn’t lose her hair but it might thin. She knows this and she knows the name of the medication and the side effects and what it’s doing etc. We just haven’t used the word chemotherapy because she associates this word with cancer and death having lost a few relatives to cancer recently.