AIBU to not want to fight for everything?

[MamaOfAWarrior]

I have NC because this could be outing.
Many of you will have heard on the news, Facebook, Instagram about the barefoot soldier who is raising money for his daughter with CdLS. Chris has started a petition to raise awareness, improve care, support and treatment of all rare diseases. I don't know Chris or Hasti, his daughter, but watching his diary has made me realise that its not just a few of us. My DS4 has a rare genetic disease. I don't think people realise unless you have a rare disease or have a DC with one, the fight that we have. There is no cure or specific treatment for my DS just treat the symptoms. Let's start at the beginning. When DS was born everything seemed normal, normal pregnancy, delivery, healthy weight. Aged 2 days he was back in hospital with haematuria, blood in his wee. After a week he was discharged, cause unknown. He lost a bit of weight at the beginning so midwife kept him on until 3 weeks when he returned to his birthweight but he was still his birthweight at 5 weeks old. No one would listen. Doctor suggested talking to the HV who was useless and refused to weigh him again for a month to see if that "gave a better picture". He didn't have dirty nappies but that was "because he was BF". He was but he had had a few bottles. At 8 weeks, he was vomiting. Doc sends us to A&E where he is diagnosed with norovirus. He doeant have diarheorra. We were sent home with dioralyte and told to expect the diarheorra. The next day, he was white as a sheet and vomiting green slime. We rushed back to A&E. He was close to dying. Thay found he had a hernia and blocked bowel. Cause unknown. Tests were carried out for varies bowel conditions but all came back negative. Even as a tiny baby, he didn't sleep well. By the time he was 18m, his DF couldn't cope and left. I have 4 DC. I know this isn't normal but again, my concerns were dismissed. Eventually at 3 years old, I'm struggling. GP tells me to retrain his brain and he'll sleep. I mention that I suspect he may have ADHD and I'm told that there is no such thing it's just behaviour. I force the GP to refer us. Finally, we get an appointment with a dermatologist (wrong department but can treat some symptoms) and we get a diagnosis, neurofibromatosis type 1. I'm told he'll refer us to orthopedics as bones can be affected and a paediatrician but the wait is about a year. 18 months later, I phone to find out how much longer and find out he was never referred. Back to my GP (by now I've moved GP), he reluctantly refers us bit only because I demand it as DS4 has been having a lot of headaches and nosebleeds. DS is now 7yo. Last December, we get an appointment with a paediatrician who is astounded that DS4 has had no follow ups. He should have been having yearly check ups. Some of the signs to look out for are severe headaches, facial deformities, scoliosis, optic glioma. His follow up is scheduled for April 2020. He is booked in for all the tests he should have had over the years, MRI, bloods, measurements etc. Obviously, it was cancelled because of lockdown. Today, I phone up to find out what is happening and no one can tell me. I have also had to fight to get him an education. He has a lot of other problems. I suspect ADHD and possibly autism. We are still waiting for a diagnosis through the school. He was referred in reception, hes now going into Y5. His school have been great and have moved him into the SEN unit part time despite still not having an EHCP, but he is stuck in the middle. He outshines the other children in the SEN unit but he is about 2 years behind his mainstream peers. No point to this really just fed up fighting for everything 😪

I hear you. Also have a child with a rare disease (undiagnosed).

It's horribly horribly lonely.

Are there any support groups on NF1 on social media? I'm on a few for undiagnosed kids, and it helps a little.

The problem with rare disease though, is rarity. No one else knows what it's like to parent your child.

I have one with very garden variety conditions and common enough. Still had to fight tooth and nail and am fortunate in that we were able to have him treated privately. I'll never have anything to do with the NHS regarding treatment of his conditions again. They utterly failed him. His untreated conditions sank me lower than even the death of his young sister.

YANBU.

There are groups but mainly for adults with NF1. The one I have found for mums with NF kids is in America. Somewhat useful but treatments and access to treatments is very different.

Run of the mill stuff can't get help either. The nhs is totally dysfunctional.

It is a huge fight when a child has disabilities and health issues, and when they are undiagnosed it adds a layer of difficulty in accessing support, then if you are 'lucky' enough to get a diagnosis for your child, it is often so rare that although someone has flicked on the light in a room, it's pretty dim bulb, so you still feel like there are still no clear answers.

Ds has a rare genetic condition, diagnosed at 8.
The years of not being believed, fighting for support, trying to convince people that certain aspects were not down to our parenting....it was fucking exhausting.

Now we have a diagnosis, it has helped a little - school have had to be more supportive (Although our relationship with them is utterly broken), it led to ds getting support from Learning Disability CAMHS (which has been amazing) and we have a very small group of families across the world, who we can connect with online. We still have Drs googling the condition in front of us, and scratching their heads at appointments, and it is still a fight for the right support, but it has at least provided us (and hopefully ds in the future) with a 'hook'.

Ds, like your ds, is also a 'middle-y' deemed too 'able' for special school and yet struggles in mainstream to the point of becoming very ill. He is 10 now, and we are fighting (...more fighting) for special school for secondary. At this stage the gap between him and 'typical' children is wide enough - academically, socially, emotionally and physically, but there are so few spaces in the nearest special schools, we have been told it may be a...you guessed it....fight.

We are pretty battle weary now, it has affected my mental and physical health. I get mistaken for ds's nan more frequently than I care to mention, and I have an inner ball of 'fuck you-ness' that I'm sure is pretty off putting...but I am lucky enough to have dh, to go into battle with and to have developed a knack for paperwork and kicking arse.

I wish I could do more than offer solidarity, but it is all I have....maybe start an on going thread on the sn board and put a clarion call on here for fellow fighters. I'll be there for a moan and a virtual if you do!

@MamaOfAWarrior I have neurofibromatosis type 1 but none of what you describe in the first part of your post has anything to do with NF1. And very little of the second part as well. Nosebleeds have nothing to do with Nf1 and to be honest not even the headaches.

How was your son diagnosed? Did you do the genetic test? Your son might have been misdiagnosed and this could impact his care.

It is evident something is not right, so I would try to get a paediatrician appointment and leave Nf1 to the side, and then list all the symptoms and episodes and ask what it could be.

YANBU
I have disabled children as well, teenagers now, but everything was a constant fight from the start. You can never take a break or trust that anything is moving forward if you aren’t pushing and nagging. Make a nuisance of yourself.
DH and I took on extra odd jobs so we could pay for private tests, diagnoses and therapy in many cases because the path through GP and schools is often too long. A few hundred pounds to get a diagnosis jumps you years ahead of others because then the GP and school have to prioritise you.
You cannot ever trust referrals have been done. If they say one is being done, always call within a week and ask for a copy then call at least monthly and ask where on the wait list you are now. I’m shocked you waited 18months before following up on a referral! I don’t blame you, we all are a bit too trusting at first.