DYRK1A

[GoAgainstNicki]

Today is Rare Disease Day! A disease is considered rare when it affects less than 1 in 2000 people. 300 million people worldwide have a rare disease and 72% are genetic diseases.

My 10 month old son has a rare genetic disease called DYRK1A (pronounced durk-1a). DYRK1A is an intellectual disability that occurs when there’s been a deletion in the chromosome sequence (chromosome 21).

People with this genetic disorder suffer from impaired speech development, seizures, hypertonia, epilepsy, low weight, feeding issues, autism, microcephaly, typical facial gestalt, gait disturbances, foot anomalies and many more issues.

My DS is under the care of physio, OT, portage, dietician, ophthalmology, consultant neurologist and consultant paediatrician. His condition impacts his day to day life as all he’s ever known is NICU, A&E and hospital appointments.

If you can spare 5 minutes today, I’d really appreciate if you could type ‘DYRK1A’ into your Google search bar and have a read on this condition that only affects 600 people worldwide. This post is to help raise awareness for DYRK1A and Rare Disease Day🧬

Thank you for reading❤️

My son also.has a rare genetic disorder he has a rare chromosome disorder 16p13.11 micro deletion ,thought to be the underlying cause of his severe autism and learning disabilities.

Commenting to try and get it trending for more awareness.

Thinking of you strong mums and lovely children today. My friend has a little bit with a chromosome disorder too and anything that raises awareness is good.

600 in the world! Super rare .
Think parents who have to step up that extra bit, when their kids come along are amazing. I know getting diagnosis/support etc can be extremely difficult, but as my friend (who has a child with.extreme disability)says, you dont have a choice - you just get on and do what you have to, and Yes it can be hard but its the love you have for your child that keeps you going. X

Oh wow! What’s the name of the genetic disorder if you don’t mind me asking?

@Justkeepsmilingx @Georgeandzippyzoo Thank you so much🥲

I also have a 21 month old so it’s very tricky. My son has come such a long way though so I’m immensely proud of him❤️

No name it's just known as 16p13.11 microdeletion syndrome
Are you a member of Unique Op?
I found them very helpful in the early days .

Hi my daughter has 22q 11.2 deletion syndrome diagnosed aged 8 now 14

Hi 👋🏻 happy rare disease day!

My middle child has a rare genetic disorder, but not as rare as yours! It’s challenging and tiring and frustrating, but she’s amazing and has come so far. They said she wouldn’t live a week, and she’s 19 now ☺️

Enjoy your special boy.

I’ve just had a little read on Google, there’s quite a few similarities between both of our DCs genetic disorders. I’ve actually never come across anything that’s as similar so thank you for bringing this to my attention.

I’ve never heard of Unique but I’ve just looked it up and can see that I can join the group. It seems really supportive so I’ll definitely look into it properly tomorrow. Thank you so much. Sending you love and strength, it’s not easy at all x

Another one that I haven’t heard of, wow. Thank you for also bringing this to my attention. Does your daughter currently get any support from health professionals if you don’t mind me asking?

Sending you hugs, it’s tough x

Happy Rare Disease Day:)

It sounds as if your daughter has come such a long way, I’m so proud of her and I don’t even know her. She sounds amazing🥰

Thank you so much, I certainly will try xx

Thank you @GoAgainstNicki @x2boys @Polgarahairstreak @Sidge. Your posts have promoted me to take a look at the rarediseases website to find out a bit more about the conditions that your DC have.

As well as explaining the conditions, it's clear that more research is needed and it must be tough to get this funded when the number of people diagnosed are so tiny.

I'm so sorry that your lives are more difficult than you expected them to be. I hope that you are rewarded by love from your children and those around you.

Thank you so much for looking into the rare diseases mentioned. It really is so difficult to get further research done as it impacts such a small quantity of people like you’ve mentioned.

Luckily there’s a DYRK1A Charity based in the UK which does all it can to try and raise further awareness on this condition. So many of our kids are young and going through such a difficult time, it’s really challenging however I try to stay positive

Hi there, thank you for this thread.

Sending best wishes and a hand pat for those days when it is a bit hard (hug).

Support is patchy and not joined up at all so can be difficult at times especially as most professionals we encounter have never heard of it. How are things for you?..my daughter is doing really well has various health issues like small hole in heart now closed, submucous cleft palate, auto immune hypothyroidism, scoliosis (she had surgery for this age 11), low muscle tone, possible autism and dyspraxia (awaiting screening for those) some learning difficulties but is in mainstream secondary education. Her biggest issue is anxiety. My biggest fears are around her vulnerabilities in society and the risk of her developing schizophrenia.

Thank you for starting this thread and hopefully us sharing our stories may help others

Thank you so much for your support and kind words x

Wow that all sounds so, so difficult. It seems like she’s had such serious issues in her life already yet she’s so young. Is there a FB group or somewhere you go to access support from people who have the same condition?

Even though my son has such a rare condition, there’s a DYRK1A support group on FB which I find so helpful. Anxiety is such a misunderstood mental health condition especially alongside everything else your daughter has to go through due to her condition. I’m truly sorry to hear this, I really help she can access support for her mental health through the community or any local charities.

Things are much better for me. I had some sort of breakdown in the summer so I do think that the fact that I’m on anti depressants has made so much difference😂🫣 my son has loads of appointments and a really great care team. The thing I’m most scared about is his eyesight. He currently has no issues but he’s under the care of ophthalmology.

Everytime we have an appointment, I get so anxious and think that they’ll say he needs to have an operation or have glasses already. It’s all just stressful really so my thoughts are serious with you xx

I have something called Agenesis of the corpus callosum. I also have an undiagnosed condition which I've been told I may never get a diagnosis.

My son has a gene mutation never seen before ..
I don't dwell on it , he has sn and we get on with life .
I used my focus to look forward and get him everything he needs . He is in an exceptional Sen school and thriving and happy 😊

WOW !!! My son has DYRK1A too. He was diagnosed in 2016.

He also has Ehlers Danlos Syndrome and CACNA1E.

😲😲 what are the chances?!! Are you on the DYRK1A FB group by any chance?