Tired of my daughter being invisible. She’s 17 and suffers daily and I feel so helpless as no one seems to give us any answers.
From the age of 12 she’s had episodes where she passes out. She suffers daily with migraines and constant brain fog.
Three years ago she was diagnosed with cold urticaria over time she’s now affected by the sun to. When in the cold/ rain/ wind she is covered in hives. In the sun she comes out with red blood spots on her leg. She has Reynards .
She had a degenerative spine causing shooting pain down her legs and foot.
She had severe asthma and is under GOSH for this. She suffers with dysfunctional breathing so when breathing through her nose her airways close up.
Is in discomfort in her stomach and suffers with cramps.
She’s due to start new meds for her cold urticaria. Asthma is on the strongest dose of inhaler. She’s had an eeg and know that the black outs are not related to epilepsy.
Her bloods show that her white blood count is slightly low, her central Hemoglobin is slightly low and her anti-neutrophil are slightly raised.
I feel at a total loss and feel like I’m letting her down daily. My gp are very little help.
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My heart goes out to you and your young daughter, who is clearing suffering. Just the fact that the doctor has run these labs tells me he is looking hard for what is causing her symptoms.
No one here can tell tell you whether or not she has lupus but can maybe offer you suggestions and share experiences.
If after this round of tests you aren’t any nearer to a diagnosis, you might ask her GP about an immunology referral. They see and are able to recognize rare inflammatory disorders that can look like lupus with rashes, stomach problems, allergies, asthma and fainting. Mast cell disorders, as an example, like lupus, are hard to diagnose.
The doctor’s commentary on her positive lab test seemed encouraging. You will probably feel better getting a thorough explanation from the doctor who ordered the test.
Thank you Kay. It’s just so frustrating on her behalf she’s been in and out of hospital for numerous health issues and it’s affecting her mental well being.
Thankfully we have such a good relationship and she’s able to talk to me about her worries.
Her most resent Blood test results came back on Friday and the doctor who ordered them said I don’t know what they mean. You need to speak to Addenbrooke’s but she’s not under them.
I understand it’s going to take time and perseverance to get the answers I have all my fingers crossed for tomorrow in the hope that the doctor may have some ideas of where to go to next.
I feel for you as a mum and for your daughter with what she is going through. As Kay has said, none of us can tell you the answer unfortunately, but is does sound like her doctor is looking.
Please continue to be a calm and determined advocate for your daughter until the answers are found. Also, remember that doctors are people too. Remember to maintain the balance. They will be much more helpful.
I have been on both sides and am still pursuing the right treatment plan for me. Some of these autoimmune diseases and similar disorders are extremely hard to differentiate and diagnose. Many times it is a stepwise process that “seems” to drag on forever!
Ask questions and prepare for appointments so you can get the most out of them. I wish you both all the best. 💐🍀
Dr Laurence Adrian has a good book on this called Never Bet Against Occam.
Additional piece of information to keep in mind is APS. That’s Antiphospholipid Syndrome. She has a few symptoms of it in my opinion- she’s young so it’s hard to say- but maybe ask her doctor.
A specialist of mine told me about 1/2 of APS patients have disordered mast cells also.
Thank you Drunnerchick i know it’s going to take time and patience just gets so frustrating seeing her in pain. So positive thinking I’m going to call the doctors tomorrow and see what the next plan of action maybe. As you say it is a long process and the doctors are trying to get us where we need to be. Thank you for you reassuring message.
I know exactly how u feel. My daughter has suffered over 5 years. She is now 20 and still has pain, debilitating fatigue, and akin issues. Has she seen a rheumatologist yet?
Sraines I’m sorry to hear that your daughter is going through a tough time also . It’s so hard as parents to watch them go through this sending hugs 🤗
So the last conversation I had with her actual doctor who ordered the bloods were that he was looking into referring her to a rheumatologist. My doctors through no fault of their own are going through a tough time with many agency doctors in practice, but they don’t know her history so send us to a&e.
Fingers crossed for tomorrow her actual doctor is back in practice and may explain the bloods to me.
I’m not 100% sure with your daughters labs, but just slight flags in blood work usually doesn’t mean much. I think she really needs a rheumatologist to run a series of labs. They usually start with an ANA test. Maybe that’s already been done. I have a cascade the docs here in the states follow. If there’s a way to send an attachment please let me know. I can tell u that with rheumatological issues it’s usually a long road to anything conclusive enough for an exact diagnosis. Even then it usually is still very confusing. I’m 49 and I’ve also battled this for well over a decade. 😥 Seeing your child suffer is one of the worst things in the world. I pray that you guys find some good, experienced Dr.’s and that your baby girl feels better soon. Please tell her she’s not alone. Maybe you could find an online support group.
In the US, we start with the ANA test with your PCP...If it comes back positive you get a referral to a rheumatologist who does another ANA test (I guess it's pretty common to get a false positive). If it's positive they follow up with an AVISE test. This is really a God send in the autoimmune disease diagnosis. It definitely helps exclude certain diseases and then it's easier for your rheumy to go from there. Why can't your daughter get the AVISE test?
There are cases where the ANA is negative, but the illnesses are still there. It can also bounce around. Not all rheumatologist will go ahead with further testing and/or treatment with a negative ANA, but the good one as will. 🙏
“There are many clinical scenarios that can benefit from the AVISE CTD test including:
Assessment of ANA positive referrals
Patients with clinical suspicion of a connective tissue disease but insufficient criteria for diagnosis
Assessment of patients with overlapping symptoms
Observation of Undifferentiated Connective Tissue Disease
ANA positive fibromyalgia patients with clinical suspicion of underlying autoimmune inflammatory disease”
My rheumatologist is university level, and I believe that the university level rheumatologist’s is usually a cut above, so to speak. My original rheumatologist that I started with referred me years ago. I feel like the major issue is that it can take so many years, even decades, for the disease process to progress (in terms of testing) and manifest itself, into what it will ultimately be diagnosed as. It is all so complex and confusing, that it’s very difficult for we as patients to really understand it. There’s no definite answers most of the time. In my opinion a good rheumatologist will treat the symptoms, even if this treatment is conservative, I think it’s usually better than doing nothing at all. The rheumatologist ordering repeated bloodwork on the regular also seems to be very necessary, even though there will almost surely be some false negatives and/or false positives. Sometimes they may get a “lead” (for lack of a better term) from a result, that can help them in figuring out that particular patients “puzzle” (also for lack of a better term.) I’m not sure how to add a picture here, but I have one of the cascade, that is typically used by physicians here in the states. It’s from Mayo Clinic. It’s helped a lot of people on many of the groups, that I am a member of, to better understand the testing process.
Hi, sorry that your daughter is having such a tough time. I have rashes just like that. Urticaria and Raynaud's symptoms and many other problems. My daughter also has been suffering. Trying to get answers with these conditions is a real up hill struggle. I have been ill for 7 years and still don't have complete answers. So far I am struggling for Drs to do anything for my daughter.
If your daughter is at GOSH haven't they looked into this for your daughter?
Im so sorry to hear that your also going through a rough time with yourself and your daughter. It certainly is a struggle up a hill at times feels like a mountain. I guess we just have to keep going and pursue the answers. My dad told me about this site due to him undoing treatment for Vasculitis, and you lovely lot have all been amazing with reassurance and understanding. I guess it’s nice not to feel like no one understands.
My daughter is under GOSH for her breathing but the asthma nurse there have been amazing. They have called my doctors and told them that they need to refer her and get her seen. The amount of calls I had from the doctors that day was pretty outstanding. Because she’s now 17 GOSH have said she needs to be under adult services but will keep her on there books until the referrals have been made.
Have your doctors/ hospitals given you any idea what’s going on with your daughter ?
It has taken 7 years for anyone even listening to me. After collapsing and spending quite a few years in bed. Had to give up about 5 years ago. I am finally with a rheumatologist who cares but so far no one has even cared about my daughter. Took her to Rhuematology consultant at 14 she was told to try harder! Now she is 16 she needs a adult referral but this virus has taken up this year. Managed to prove she has autoimmune thyroid condition like me and many other family members. That's a fight again. Drs just don't understand or care about Autoimmune thyroid. They have told me I have a lupus type condition but so far blood tests don't show anything. Hundreds of blood tests and no real answers. I know what I will be doing for the rest of my life!
Muff20 I know what you mean about the transition to adult services during this pandemic. We have to Keep doing what we are doing we will get there. As frustrating as it is. It’s positive that you now have a rheumatologist working with you.
Sending hugs 🤗 it’s given me comfort knowing we are not alone through all of this.
S x
I’m so sorry your daughter is suffering. I agree with Kayhimm that it sounds as if she needs to see an immunologist or perhaps a haematologist or a doctor who can join up the dots for you both.
The severe asthma and urticaria do seem to point to mast cells but I think these can become activated due to autoimmune causes.
Lupus isn’t an umbrella term or a group of diseases - it’s just one rheumatic autoimmune disease of many. There are types of Vasculitis that could explain the urticaria and her severe asthma for example.
I had very severe eczema and fatigue at your daughter’s age but the eczema moved on finally and was replaced by other stuff. No one in those days thought of eczema as being autoimmune rather than allergic - but mine definitely was. Hormonal changes kept things moving for me and eventually it became clear that I had a mix of autoimmune diseases. I think a good immunologist would be able to run through her autoimmune panels and most likely know which type of specialist to refer her on to for diagnosis and treatment.
Very interesting they there is vasculitis that could explain the asthma and urticaria. I know nothing about the ANCA but clearly the doctor was looking for something.
Your reminder that lupus is not an umbrella term is important. Though it is frustrating, doctors do not like to give out a diagnosed until it is certain. People want an exact label but that can mislead too. I have and have stayed UCTD.
I agree the immunologist would be able to put the results of the panels together. And wouldn’t they rule out any and every allergy too?
Yes, mast cell activation disorder occurs more commonly in inflammatory diseases, asthma included. I saw the immunologist who is in expert in what is called autoimmune mast cell disorder. Complicated stuff. And he immediately I didn’t have it. 😅
There are types of Vasculitis which are always ANCA negative. However the problem is that many types of Vasculitis are rare and there are too few specialists who can diagnose or treat them. Here in UK the charity to contact via their helpline is Vasculitis UK. Both Scleroderma and Vasculitis are actually umbrella terms for many different types. And certain autoimmune diseases tend to cluster like extended families so if you have one then there will be others that are more strongly associated. For example if you have MCTD you are more likely to carry the U1 RNP antibody and time have Scleroderma, Myositis, Lupus and Sjögren’s in your mix. Whereas I think UCTD is more closely associated with Lupus and RA but also PsA.
This is a good link to explain antibodies associated with CTDs but not relevant to Vasculitis - which seems to be a larger family in itself as far as I’m aware. There’s also Multiple Autoimmune Syndrome/ MAS which is a very interesting umbrella that some doctors apparently doubt but it’s certainly one I feel I belong to although my official diagnosis is Overlap CTD/ OS.
Thanks! Will look at this. I didn’t realize vasculitis was that rare and that care difficult to obtain. I also did not know scleroderma was a type of vasculitis. I do have a friend with limited scleroderma who has had surgery on her fingers, so that would be vascular, right?
You know, I also thought, based on the numbers of people here with UCTD, that the most common progression would be lupus. One article I read stated it is actually scleroderma. Still don’t believe that. 😅
MAS makes sense to me. They put a lot of mental energy into these names, don’t they? I can’t tell how many doctors have responded, after seeing I have UCTD, with, « so that is mixed connective tissue disease » or « sure you don’t have lupus? »
Scleroderma is not a type of Vasculitis - it’s the quintessential connective tissue disease in that the connective tissue (outer internal organs, arteries, capillaries and veins, digestive system etc) harden/ thicken/ tighten become fibrotic. Scleroderma usually causes vascular disease, particularly Raynaud’s, digital ulcers (gangrene and loss of digits in severe cases) and pulmonary arterial hypertension, cardiovascular problems etc. Myositis also often sits close by.
But vascular diseases aren’t the same as Vasculitis - which is inflammation of the blood vessels. The Vasculitis umbrella covers PMR (most common) and IgA...and small and large vessel types - GPA (Wegner’s - is in the top four most dangerous rheumatic diseases), Churg Strauss, Relapsing Polychondritis and Behcets - plus more besides. So it is a really a big umbrella - I think there are about 18 or 19 different diseases that sit under the overall umbrella. I’ve only learnt all this myself because Sjögren’s is closely associated and I have this as well as Systemic Sclerosis.
Maybe the paper you read was confusing UCTD with MCTD because the latter is more associated with Scleroderma? I know what you mean though about all the overlaps and labels. Lots of people with scleroderma abreviate it to SS whereas clinically and for me personally, SS is Sjögren’s and SSc is Scleroderma!
But the thing is that the specific antibodies - or lack of - is usually a pretty significant contributor towards diagnosis for rheumatolgists and immunologists and patients, These autoantibodies can enable specialists to better predict the specific disease prognosis and know when to intervene and when to use quite aggressive treatment protocols - and equally when to watch, wait and see.
Hi Kayhimm our doctors are referring her to a rheumatologist its taken three years to get here. Her doctor checked her ANCA levels as my dad has Vasculitis and her symptoms are in some ways very similar. Autoimmune just seems so vast and so many symptoms mimic many.
I’ve looked at mass cell today and it seems that many of her symptoms seem very possible it could be.
Hi, like some of the others I would think some sort of mast cell dysfunction most likely. There are links to other autoimmune conditions like Sjogren's, APS ( which has been mentioned) and Small Fibre Neuropathy but also Dysautonomia and of course thyroid disorders. Does your daughter have any food triggers - have they checked for Coeliac for example (gliadin (gluten) and dairy most common)? Think about all of the family health history that you can remember and look for patterns. Autoimmune (and other) disorders aren't inherited necessarily but are familial, so you may find useful clues. Was there a trigger at 12 (virus etc) or could it be cyclical with monthly periods - oestrogen imbalance could be at least worsening those symptoms (hormone changes raise histamine etc). You could try a diary of symptoms and foods against periods. I guess you've already tried anti-histamines, low-histamine diet (temporarily, to see if it reduces any symptoms), and aspirin (if ok to take with other issues) to see if thinning blood helps migraines etc.
I understand that you feel at a loss, but believe me you are not letting her down - you are doing a fantastic amount already. (My issues 'started' at 12 too and I wish I'd had someone like you at my side, as well as the huge wealth of knowledge that is now available online and in groups like this!) You will make progress. Best wishes
So my dad has been diagnosed with ANCA Vasculitis and is undergoing treatment from Addenbrooke’s. My son who is 22 has Reynards. My daughter seemed to start having issues after she was very poorly with scarlet fever. Her skin conditions started at this point. She’s on the strongest amount of Antihistamine for her age to treat her urticaria. It’s not worked so she has now been put forward for a monthly injection to see if this controls it.
Some of the autoimmune conditions you have mentioned above I’ve not heard of so shall look into them.
Hi, my pleasure. I really hope some of it makes sense to you and helps. Not everyone thinks that autoimmune diets are useful, but I have found them so. My early triggers went unrecognised and were gluten and dairy. You have a lot to deal with, I know, but please don't rule out dietary triggers. It may be a small part of the whole family picture x
My heart goes out to you and your daughter. I was diagnosed when I was 50 years old but had been going to the GP since I was 20 with lots of lupus issues. Diagnosis can be hard. Get them to check her bloods. Protect her skin. You might like to read the book by Jill Harrington on recovery on lupus. I bought from Amazon. All the best. If it is lupus, there is help out there. Yes we have to change our diets and life styles.
@bookish just recommended something I think would be very informative, and that is a trial of anti-histamines. Before my appointment with the immunologist, which was months, my rheumatologist let me take Benadryl. It is OTC but you still may want to talk to your GP first. If it helps her, that can clue the doctors in.
Is your daughter light-headed in a daily basis or when she has an episode? Has she had a tilt table test?
One thing I learned from this allergy/mast cell work up was how all of these systems inter-relate. The body reacts in ways that can look like many diseases.
I have hope they will come up with an answer. They know a lot already, right, about certain of her conditions?
Kayhimm thank you. She’s on a high dose of Fexofenadine to control the urticaria although it’s made no difference her hives still appear.
Her headache is daily and Lightheadedness / dizzy is daily. Her brain fog is very bad. The doctors took her blood pressure while laying down to standing up. There was a drop in pressure and heart rate jumped up.
Her blood pressure is normal at a low last taken was 89/56
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