How to cope with diagnosis?

[TheLastChance1]

Hi all,

Posting here and not SN children as it doesn't seem to get much traffic.

My two year old son has been diagnosed with 16p11.2 micro deletion syndrome. It's basically a rare (although the most common) chromosome disorder that affects development and intelligence.

It was kind of unexpected as up until one he was absolutely fine, he was speaking around 20-25 words on his birthday and then suddenly he couldn't speak anymore and can now only say "tah" and "dada". He can't walk or talk and is behind for his age honestly I thought he was autistic which is how we came across this diagnosis.

I just feel a range of emotions. In a way I do feel relieved that we now know what's going on with him and the reason behind his behaviour and can get the correct support into place but I just feel very stressed out.

There's very limited information on it and from what I can gather it affects every individual differently so I don't know how severely or not he'll be affected - I guess it's the not knowing that's the hardest.

I also feel guilty that he's got it and keeping thinking why him, he doesn't deserve this etc which are all normal I suppose but it's really getting me down maybe because we only found out on Tuesday.

I'm also angry in a really selfish way. I'm in the middle of a degree and my husband is starting one this month and it's somehow been decided that I'll become the main SAHP to cater to all his needs, appointments and care he may need in future which I know is best but I'm just grieving for the future I was trying to create for my children and myself.

Please can I ask how you got over something like this? My son needs me and the best of me not this pity party I'm having but I can't seem to shake myself out of this darkness.

I do suffer with my mental health and I have an appointment with the community mental health team on the 11th May but I just need tips on how to keep myself together please.

Thank you for reading

hi Op that sounds really tough to have to cope with. I don't have any experience of this so can't offer any help on that front, but I would say maybe some professional support and therapy for yourself could be a help to you to help you cope? Are there any support groups for this condition in particular e.g. Facebook / Reddit / otherwise? I often find arming myself with information can help, particularly from others that have been through something similar because it helps me feel like I am doing something proactive. Wishing you all the very best. 💐

OP I found this thread on reddit on which one of the comments recommends a website and a FB group, in case it helps. If you have already discovered these things, apologies for repeating what you might already know. Wishing you all the very best.
www.reddit.com/r/genetics/comments/7hk0y0/16p112_microdeletion/

I'm not surprised you are feeling overwhelmed. Its new news, and it'll take time.

Have you come across this website? www.raredisease.org.uk/information-and-support-2/

It looks.like there is lots of Information, and support from other families who are facing similar.

You don't have to decide now that you will be the one at home. You can find what works for you all.

And you can claim DLA, so that you are able to use the money to help make life easier for you all.

I don’t think you ever get over it just learn to live with it. My son is an adult in his twenties. He is severely autistic. I still get angry at certain times and think why him? His special birthdays really get to me, when he was 18 and sat in his room watching Thomas the Tank engine. When he hit puberty he started have seizures and was diagnosed with epilepsy. After the first seizure he hit the floor with no warning and smashed his face really badly. I couldn’t even look at him without breaking down and thinking he had enough to deal with. I gave up work when he was 7. Trying to work when I needed to constantly collect him from school was a nightmare. It just got too hard as i always felt I was letting someone down.

Feeling as you do is completely normal and my only advice is to take it one day at a time. Try not to think too far ahead. It’ll take time though but you’ll get there.

Thank you everyone.

@Fansandblankets thank you for sharing that. It must be so hard for you. I still think my son is autistic as the traits are still there and it's quite common with his condition so I don't know if he's gonna have a double whammy.

We thought my son was spacing out and thought it may be due to autism but now we're thinking they may be absent seizures - it's so bloody hard.

It's so shit isn't it? Like there's no other words to describe it and other people try and spin positives which I understand but sometimes you just want people to acknowledge that it's shit.

You never get over. You alter. You get rare days that make you sad : day before sons 17th birthday as will never drive on the road.
Guess what I took him to a learner young driver school and he got to do that!

You get days when you are angry and frustrated at things like repeating the diagnosis to consultants/doctors/ people genuinely interested in learning.

Then you will have days where you just are overwhelmed with love and emotion as they do something you didn't expect or make you giggle.

You will feel so many emotions, as its a grieving process. And please do not beat your self up about it. It is totally normal.
Fear is a big one.

Remember 1st and no matter what that is your child your baby. You will learn to adapt to what is correct for your family.

Regarding degree I have one. I studied as a single parent with a disabled child. I went as a mature student.

There has been many things altered/changed many times. Delayed put on hold. ( currently going through one atm due to health needs increased).

But you end up adapting.

You take as much time as you need. Allow yourself to feel the emotions. Diagnoses are bloody hard and painful. Every time. Even when you know/suspect.

My adult son has severe learning disability, autism and a genetic diagnosis of Nerofibramatis micro delation syndrome.

A genetic disorder can be caused by a spontaneous mutation in the womb and happen to anybody.
Please look after yourself.

Thank you @Colourfulrainbows.

We're trying to concentrate on the little wins and the things he can do at the moment.

It is shit yes. Like when people meet my son and say it must be hard but I bet you wouldn’t change him for the world and I think I’d give anything at all to change him! My big burly adult son who needs everything doing for him. Who can’t talk, or express himself, who has very little understanding of the world around him. Who has aggressive, challenging behaviour. Of course I’d change all that. I’d give my own life to make life better for him. Of course we celebrate the wins. When he’s happy it’s amazing. I love to see his face light up when he finds something funny. Everyone who works with him absolutely loves him. We all love him but life must be incredibly shit for him too.

As a parent though all you can do is be the very best advocate for him. Make sure he gets the correct support at school. Many will try to fob you off along the way. Join groups and talk to as many parents as you can. I honestly felt so alone in the early days. There was no internet and very little info out there. I’d never met another person with an autistic child. He was the only child at school with SN. When he was about 7 he started at a special needs school and finally I found people that understood. It was a huge relief. Now most of our friends are those with young adults too. Our kids have gone through school together and into adulthood together. It makes the world of difference to talk to others who get it.

Hi OP, I’ve just read a little about 16p11.2 micro deletion syndrome and see that there are commonly features of autism with this diagnosis. I guess also in common with autism is that you don’t know at such a young age how severely or in what ways your son will be affected.

My son couldn’t walk, talk and had very limited understanding at two. We did the medigoround of professionals (paeds / neuros / physios). They offered genetic testing but didn’t push us into it because they felt he didn’t show any clinical features and we didn’t do it in the end. He was diagnosed with autism and associated co-morbitities (low muscle tone, hypermobility). He has some learning disabilities and is at a special school (now a teen).

I remember at two being overwhelmed with all the therapies and interventions and (fortunately for him) he still has weekly speech and language therapy and OT. I remember being very fearful of the future (and still am to an extent). You will probably have to learn to fight for therapies etc that will make his life easier / help him reach his potential. I found that a lot of family and friends didn’t really get it and either came out with crass comments or thought he would somehow ‘get better’ as he got older.

You say in your OP that it’s ‘somehow been decided’ that you’ll be the main SAHP. Is this what you want? It’s really important you don’t lose sight of yourself when dealing with everything that comes with having a disabled child. I became the SAHP (also have two older DC with ASD, though not as severely impacted), but if I hadn’t wanted to do this, my DH and I would have explored other options.

I think you’re right to concentrate and celebrate the things your DC can do. My DC did make good progress and although I still feel sad when I see other teenage boys out having fun and being independent, I am grateful for what he can do. For now, go easy on yourself. When my DC was a toddler, the SN Children board was a great source of support - it is a shame it doesn’t get much traffic these days, but I’m sure there are other social media boards that will be helpful. It’s good to talk to other parents going through he same thing as they really ‘get it.’

If you are near Coventry, kids and adults to the middle exhibition might be worth a visit to see what stuff is around for support. (They do others later in the year) disability trade show.

Also try sn chat as it's busier. You'll get good support in the goose and carrot..

I am so sorry to hear this and my heart goes out to you. I won't comment on the specifics of having a SN child as I'm not qualified to do so, but what me particularly sad was your comment that it has 'somehow been decided' that you are the one to give up your hopes and dreams to care full time for your child. This sounds like it was rather imposed on you by your DH and/or others. Is there any way that you can both compromise and work towards sharing the care responsibilities so the burden does not fall totally on you?