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SN undiagnosed genetic conditions

This forum is for Mumsnetters to discuss undiagnosed illness.

NHS negligence led to my child being misdiagnosed and delayed care

10 replies

shejokes11 · 13/04/2025 18:04

I was 16 years old and 5 months pregnant when I first learned of my pregnancy. At my initial scans, I was informed that my baby might have short legs (suspected dwarfism) or Down syndrome.
• Despite concerns about the low amniotic fluid and developmental anomalies, I was not offered genetic testing or counselling beyond the amniocentesis. I chose to decline this due to its associated risks (infection, miscarriage). Instead, I was advised that the fluid levels could fluctuate, and the condition might improve over time.
• I was not given the full range of testing options (such as non-invasive testing) that could have provided clearer answers earlier on. If I had known the extent of the conditions my child might face, I could have made a more informed decision regarding my pregnancy.
2. Failure to Identify and Address the Full Range of Health Issues
• The hospital’s failure to diagnose Peter’s Anomaly, PKD1, and other associated conditions early has led to delayed treatment and worsened outcomes.
• My child’s conditions were not fully understood or communicated during pregnancy, which resulted in missed opportunities for intervention and proper preparation for the challenges my child would face.
My child is still being diagnosed with other conditions as he grows and is missing genes and has a few other genes which are doubled. I am in utter disbelief that he is already blind but is now being diagnosed with several other conditions such as kidney disease. If I had been told from the beginning I would have chose to terminate due to unfairly putting him in this predicament of pain and suffering. He is expected to lose his vision in all totality and he already has cysts appearing all over his kidneys.he is still undergoing many tests and more issues may suffice. I am raising a negligence claim however due to the lack of successful claims I am thinking twice does anyone think I have a claim or not.

OP posts:
BunnyRuddington · 18/06/2025 20:19

I’m so sorry that you’re going through this @shejokes11especially at at such a young age.

Are the eye clinic able to put you in touch with a charity where you ciukd talk to other parents going through this?

As for the legal claim, you might be best asking for advice in the legal section Flowers

ThatWarmTurtle · 20/07/2025 22:50

The best way of knowing if you have a possible claim is by going to a solicitor that specialises in paediatric medical negligence. My brother has severe cerebral palsy & chronic lung disease. He aspirated almost all milk for roughly 5 months, causing him to go blue and stop breathing. During this time he was brought to the doctors and they dismissed my mum as FII. Video fluoroscopy was done at 9 months that proved the aspiration. There is possibility that his lungs were severely damaged by this, hence the reason for him now being terminal and having a daily o2 and ventilation requirement.

Mum requested a SAR for maternity & my brothers notes and contacted a recommended medical negligence solicitor. Haven’t heard anything yet but as these are usually no win no fee, they will tell you whether you have a good case or not. Do keep in mind that these cases can take years, a friends took 9 years and the NHS has just started to pay out. You lose access to charities like Family Fund & Motability grants, funded respite (social care will not fund anything but CHC will) etc. Any house bought in the name of the trust legally belongs to the child. Not trying to put you off - but so many people we know personally have been caught out by this.
Sending so much love x

shejokes11 · 20/07/2025 22:51

thankyou for responding I have contacted multiple negligence lawyers and they said the timeframe has gone unfortunately. I am pregnant again and have been to a scan which now they show you the eyes and the lenses and with my child with the eye condition I never got to see that also.

OP posts:
ThatWarmTurtle · 20/07/2025 22:55

Really? My brother is 13. You get until they are 18 + 3 years (from the top of my head) to bring a claim. Maybe they are confusing a maternal negligence claim thinking it was for you? Best of luck with your pregnancy, hope everything goes well for you all

shejokes11 · 04/08/2025 15:25

I am genuinely clueless and I’m very sorry to hear about your brother I hope he got the compensation he deserves even though it won’t account for the situation. I have no idea whether the claim should be for me or for my child as he’s the one suffering with the conditions. However everytime they reach back out they say that it’s not grounds for a successful claim ?

OP posts:
shejokes11 · 04/08/2025 15:27

Genuinely fear for his future just want him to have the compensation to build a life for when I’m no longer here :( as I know that will be extremely difficult as he’s conditions are expected to deteriorate.

OP posts:
ThatWarmTurtle · 04/08/2025 15:38

shejokes11 · 04/08/2025 15:25

I am genuinely clueless and I’m very sorry to hear about your brother I hope he got the compensation he deserves even though it won’t account for the situation. I have no idea whether the claim should be for me or for my child as he’s the one suffering with the conditions. However everytime they reach back out they say that it’s not grounds for a successful claim ?

No of course. You’ll likely have better chance of trying for your son - we are looking to doing it with Field Fisher. We tried Irwin Mitchell but they were useless, but they have had success with other families we know

shejokes11 · 04/08/2025 16:48

ThatWarmTurtle · 04/08/2025 15:38

No of course. You’ll likely have better chance of trying for your son - we are looking to doing it with Field Fisher. We tried Irwin Mitchell but they were useless, but they have had success with other families we know

I’m not even going to lie to you most of the firms have said no including the ones above this is due to lack of success with my case.

OP posts:
IceyBisBack · 08/11/2025 21:50

You will get nowhere with this!
How can they determine how your child will deteriorate ?
Your fetus was 20 months before you even presented as pregnant.

ADHDMumHere · 16/01/2026 01:23

the doctors didn't offer you all the available testing options, didn't properly explain the potential risks, or failed to diagnose your child’s conditions early, that could be considered medical negligence. Had you known the full extent of the possible issues, you might have made different choices about your pregnancy.
It’s important to talk to a lawyer who specializes in medical malpractice. They can help you understand if your case is strong and guide you on what to do next.

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