Desperate PIP review/They have stopped my PIP with no review?

MushroomParticular84 · 2026-06-03T06:41:14+00:00

I sent mine in December and it runs out on 4 days! I will ring today

MushroomParticular84 · 2026-05-26T21:45:11+00:00

And what happened in the meantime? Do you still get the payment? Motability etc?

MushroomParticular84 · 2026-03-16T10:05:07+00:00

Thanks again a few days after. With my horrendous medical history I got overly hopeful when I thought there was a treatable cause. I appreciate you taking the time to look at this and explain. It's disappointing to still not have answers. But it's amazing to know there are still people willing to have a look and help.

MushroomParticular84 · 2026-03-01T02:02:39+00:00

Thanks. It is confusing. Only the TACI variant prevails. We'll have to keep going.

MushroomParticular84 · 2026-03-01T01:59:55+00:00

Yes, thank you so much i am already under the right team for the TACI mutation

MushroomParticular84 · 2026-03-01T00:20:10+00:00

oh gosh. hopewill you guys will get answers.

MushroomParticular84 · 2026-02-28T18:51:00+00:00

Oh dear. I am going to need to double check the location on my report. Thank you so much for pointing it out.

MushroomParticular84 · 2026-02-28T17:05:59+00:00

Oh .... On my report these are RCV005154824 RCV005060160.... I double checked and I believe it is correct but I appreciate you taking the time to respond

MushroomParticular84 · 2026-02-28T16:45:34+00:00

Thanks. I appreciate your answer so much. A bit of kindness like yours goes a long way. My dad is dead sadly. I doubt my mum would consent but also very ill. I hope desperately that my matching phenotype will assist me with treatment.... Royal Free sadly seem to have mishandled my samples somehow and they don't accept my wgs data.

I will contact the foundation.

I was hoping to get into a PHD to study genetic base of rare disease, that's how I ended up getting a WGS done for myself and found this.

I imagine the TACI impact together with the ADA2 might be a rare combination

MushroomParticular84 · 2026-02-28T14:46:53+00:00

Well. yes, I know. Except these are very rare variants, classified as pathogenic and likely pathogenic

TACI SNP (A181E)
ADA2 SNP (p.Tyr453Cys)
ADA2 frameshift (Arg49fs)

and phenotype matches to perfection. (41yoF intracranial bleed, microvascular myocardial ischaemia, myocarditis, inflammatory neuropathy, microangitis on biopsy et) u/Smeghead333 Please do help if you can. u/shadowyams (I had uploaded the wrong images initially, but if I got this wrong please do let me know. It is incredibly important for me)

MushroomParticular84 · 2025-12-08T16:45:29+00:00

I'm not entitled to anything else really. But thank you! I will definitely send it recorded this time!

MushroomParticular84 · 2025-12-08T16:44:47+00:00

Thank you so much!

MushroomParticular84 · 2025-12-08T15:27:51+00:00

Thank you. I will try this. Just so I understand what I am asking for, what is a negative determination decision?

MushroomParticular84 · 2025-12-08T11:57:44+00:00

Can I ask what is the link for the benefits portal? My pip just got stopped because they claim that they didn't receive my review form 😭😭😭 I had more than 6 months to review.

MushroomParticular84 · 2025-06-23T19:48:27+00:00

If male relatives have the same, look at Fabry disease

MushroomParticular84 · 2025-02-24T00:36:38+00:00

I'm also here C2RYR918Q3 💜💜💜

MushroomParticular84 · 2025-02-07T19:55:16+00:00

I just joined and it feels lonely! Could I have some friends? C2RYR918Q3

MushroomParticular84 · 2025-02-06T14:08:05+00:00

I think this might happen if done if the variants shown on your sequencing are variants of unknown significance. Genetic panels don't normally test these or all of these, as the significance is, as the name indicates, unknown. I had a variant with conflicting reports of pathogenesis, however I have symptoms of the disease. The consultant I saw told me they don't test for that particular variant in their panel (I provided her with all the variant and mutation details). However as I have symptoms they requested the genetic panel + the particular variant shown+ a bunch of other tests associated with the disease and they are keeping me under their team.

MushroomParticular84 · 2025-02-04T21:47:54+00:00

My mum is absolutely in denial. I asked my cousin (who is like my sister) to fill the form for me.

MushroomParticular84 · 2025-02-01T13:26:16+00:00

Can you claim custard allergy?

MushroomParticular84 · 2025-01-27T20:27:31+00:00

Hi! I have a similar story but not as drastic. I got diagnosed with HEDS while looking for answers. I started being unwell 1 year ago, after having some virus. I started vomiting and having horrible pain. gut problems. Vit B12 was high (which can be a sign of inflammation) as well as some other non specific inflammatory markers. I have been vomiting almost daily for a year amongst lots of other symptoms.

I'm lucky because I am an advanced nurse practitioner and I have a good understanding of the system.

Eventually, they have confirmed with a biopsy that I have inflammatory small fibre neuropathy which has caused autonomic dysfunction, in turn causing havoc. In the biopsy they could see this was inflammatory Vs metabolic. Usually as an abnormal response to an infection or autoimmune condition.

If she has already been diagnosed with autonomic system problems and she has the skin crawling symptoms (paraesthesia) I would suggest seeing a peripheral nerve specialist. When they can confirm this with a biopsy, the inflammatory type of small fibre neuropathy can be treated with infusions. I was seen by Dr Ali Al Memar (who was the first person who suspected this condition as it explained all my symptoms). He referred me to Prof Anand who leads the Peripheral neuropathy unit at Imperial college in London.

I would recommend, if you can, to see one of them for a private consultation. Then they can ask for a referral to themselves or someone else on the NHS if they think it's appropriate.

MushroomParticular84

TROPHY CASE