Desperate plea for help. 4yr old constantly Ill

[EmmaT0305]

I am in desperate need of help please.

I have 3 kids. 15, 14 and 4. All girls. I've seen it all. Been through everything from the common cold to meningitis.

But my 4yr little girl is constantly sick. I'm loosing my mind with worry.

When she started nursery 16 months ago she got a cold and every week since she has been ill with something. Now I understand children get ill, some more than others. But I promise I'm not overreacting.

She has had tonsilities 6 times, countless unexplained viral infections, colds, flu, ear infections, chest infections, you name it she's had it.

But recently her health has taken a nose dive and I don't know what to do.

Her symptoms are as follows,
Fever (102 +) Which sometimes leads to convulsions unless controlled fast. Highest temp was 105.7
Headaches
Loss of appetite
Leg pain
Itchy skin
Pins and needles in feet
Mood swings
Weight loss (2lbs in 3 months)
Abdominal pain
Irritability
Hips click and hurt
Restless sleep
Extreme tiredness

She has had blood tests and they showed she was anemic she had 3 months of iron

She is also asthmatic and on blue and brown inhalers and tablets to control her asthma

Blood tests have ruled out gluten and dairy allergy.

I am still nursing she's self weaning so nurses for 5 minutes in the morning as she wakes up and when she's really ill she will nurse for comfort
Sometimes bf has made the difference between needing an ambulance or not.
She has had more rides in an ambulance than my other two kids combined.

The Drs have referred her to a peadatrition but they cancelled one appiontment and after a fight I got another referall but they down graded from urgent to routine and although I call daily it's been 3 weeks since latest referal and I'm still waiting.

Please please please if anyone has any ideas or advice I would be so grateful. I am so desperate. I just want her well. Thank you.

As an aside EDS and mitochondrial disorders aren't related; both are not unreasonable suggestions to make in this situation, though both are uncommon/rare. With an EDS diagnosis in the extended family already, definitely one to ask about.

Hope you can get somewhere soon, best wishes.

Did you receive an explanation as to why the referral to Paediatrics was downgraded from urgent to routine? It doesn't sound as though there has been a significant improvement in your DD's condition so this seems odd. Why was the first appointment cancelled? I would contact them and ask for an explanation and if you're not satisfied complain to PALS. This may result in the referral being suddenly being treated as urgent again!

Lyme disease is caused by tic bites.

If youre getting ear indections her adenoids could be swollen.

We had similar issues with dd1 and she got better in year 1. However still has the mood swings when fighting off infection. A bit like PANDAS.
It started after starting nursery and then getting hand foot and mouth, and the mmr at the same time then croup and then a uti then multipe ear infections.
She did have a tic bite but it was over 12m earlier

WRT the cancelled appointments I would suggest going into the PALS office and tell them the whole story.
I was at breaking point wirh cancelled appointments and I went in and spoke to them. (I may have cried a bit). They got me an appointment by circumventing the ridiculous admin system. I was in hospital having some treatment within a couple of weeks having been fobbed off for 10 months by choose and book.

Is she getting enough iron now - if she's not eating meat she may not be. I would see if your GP can check that again. Also, how well controlled is her asthma? Has she seen an asthma nurse for a tailored medication plan? Eg for my asthma I have to amend my medications if I get a cold, to combat the fact colds make asthma worse

As an aside EDS and mitochondrial disorders aren't related; @Pythonesque The current belief among researchers in the field is that they are related, they just don't know exactly how. In any case, at this age, the symptoms are so similar that both diseases should be checked out.

@Graphista thank you for your message. A lot of what you say rings true for us.

She's never had a droopy eye. When she's tired she prefers to sit or be carried

She has really long fingers but I attributed that to genetics as her father has really long fingers too. When she was a baby she had HUGE feet but she's kinda grown into them now lol

I've had a look at the link you sent and it's scary how accurate it is for us. Not everything but a lot of it matches. Thank you I'll keep reading through the link.

Have her vitamin d levels been checked? Deficiency is very common in the UK and affects the immune system. It's not on the standard blood test, the doctors have to specifically add it

You are very right to want this investigated further and don't let anyone brush you off.

My DD has a rare bone disease that took 4 years to diagnose (and even now 3 years from the original diagnosis the doctors are doubting its exact categorization) and my lessons from the process are:

• non-specialist doctors know fuck all about rare diseases. This is not because they are rubbish or uncaring doctors, but just because rare diseases are rare.
• when faced with something out of the ordinary it is easy to be fobbed off. Many doctors sign you off if your DC doesn't have the thing they were looking to find, that doesn't mean that your DC doesn't have something else though!
• try to get to a specialist as quickly as possible. Once you are in the system things happen a lot faster. My DD finally had a consultation with 7 different specialists, including 3 consultants from different specialists, a physio, specialist nurse, etc. all in the same room to figure out what was going on. That way they could explore all possibilities there and then. Once you have a general direction to look into, find the hospital that has the experts in that area and insist for a referral there.

By the way my DD also had anemia, it ended up being caused by her nutrition so it was not related to her main issue, but she was still tested for all kinds of other things until we ended up with that diagnosis.

I wonder if she's had an allergy test? Did they get to the bottom of why she wasn't getting enough iron in the first place?

I also second the PP who suggested just going down to the pead. office and seeing if there's a way to get an appointment. Don't be angry but state your case and explain how worried you are.

Another voice to EDS being a possibility. I know 3 people with the condition with varying degrees. All had to battle to get to diagnose but after that have had some great successes with managing symptoms

Is she the only one of your children with asthma.? As they tend to get more/severe colds etc.
Some asthma medication can affect behaviour and possibly immunity?
Do they spend a lot of time outside at school like working outdoors?
If you are weaning is she gradually having more cows milk could she be allergic and so getting reflux and irritating throat?

This sounds exactly like my ds(3)
He’s really anaemic, gettungvworse. Had pneominia 8 weeks ago. Lost 4kg in weight. Now barely eats. We are under consultant care and have an urgent referral to dietician.

Does your child drink lots of cows milk? Cows milk can prevent the absorption of iron.
Also, although your child doesn’t have food allergies, there is a condition called pernicious anaemia. It doesn’t matter how much iron your child has, this type of anaemia can prevent the gut from absorbing the iron. I think it’s when factor B12 is missing from the system. But B12 normally attaches to the iron so it can be absorbed. The treatment is usually injections. I only know about this as my grandmother had it so my ds was tested for it.
It’s been a nightmare. 2 months and we haven’t been anywhere except gp or hospital. So stressful watching them suffer like this.
Has your dc had a follow up blood test to make sure iron levels are better now?

Maybe I should add on the anaemia thing along, just in case your DD has not had other investigations...my DD had a referal to a haematologist who did a more comprehensive blood test, we were tested for Thalassemia B, she had iron for three months, retested after that, retested a year later and retested two years later.

@Notmyideamovingon she has had a coeliac test and results came back negative. So has been ruled out. Next time she has bloods taken I will ask for them to retest.

@MinisterforCheekyFuckery
@endofthelinefinally

No explanation as to why appiontment was cancelled or downgraded I'm currently stood in my Drs waiting to chase the appiontment with the receptionist again.
Alas as I type this I've been giving a different number to call to chase. I feel like I'm going round in circles.

I didn't think about PALS I will definatly give them a try if I'm still not getting anywhere. Thank you.

@JamPasty
She sees her asthma nurse every 3 months and has a tailored plan that can and does get adjusted when she's poorly, slightest cold, cough running nose etc we up her inhalers and keep it under control. This latest bout of illness for her has been 4 months and thankfully we haven't had an asthma attack for 4 weeks now. I carry inhalers as I'm asthmatic and the school give her them during the day before going outside and when she comes back in.

@ MaverickSnoopy
She won't take probiotics she says they taste funny I've even tried hiding it in drinks and food. She takes a multivit daily and I try and keep her food balanced I also eat very well and take multivits so that the little milk she gets from me is as healthy as can be.
She has had a water infection before it's something I keep a close eye on as she was really sick with one and it took a trip to a&e to figure it out. Even she knows when she needs to drink more as she comments on the colour/smell of her wee and she's proud when it's clear.

I started keeping a diary of symptoms mood etc at the start of the year. I wish I had started sooner, videoing is a very good idea. Thank you. I've also asked the school to keep an eye on her and report back even something as simple as itching...

I do keep her home when she's sick. But I've got quite good at controlling her temp and she thrives at school and loves learning. Every time she's too ill to go in it's a fight to keep her home. She wants to go. But I agree that sometimes it's needed and that the school will just have to understand.

SofiaAmes ah, what I was thinking about was the genetics of these disorders, I think of "mitochondrial disorders" as ones where the genetic problem is in the mitochondrial DNA. You are quite right there are plenty of autosomal disorders where the mechanism is via mitochondrial misfunction. (I used to study one of them ...) I'd always thought of EDS as fundamentally a connective tissue disorder - but then structural proteins are needed everywhere in the cell for it to function correctly!

If you want to give the probiotics another go - these were recommended by my ds's dietician (he has a genetic condition with lots of associated gastric problems) He has a very restricted diet and can taste anything in anything...but these are completely flavourless in an oil base and the drops are tiny so we have managed to put them in food Biogaia

If she is generally better in the summer then the asthma and meds could be causing some of the symptoms tiredness etc.
Is the fever constantly there?

Op you're most welcome. My dd I thought for a long time was just "thoughtless" and "clumsy" - I felt SO GUILTY when the truth came out. She was forever falling, bumping into things, dropping & spilling things I'd get so irritated!

She also went through the most robust shoes in weeks! Now know that she pronates and she has orthotics to correct this.

She was also never a "good eater" but when I discussed with hv and was advised to do a food diary inc amounts was shocked to realise she was actually eating quite a lot but a grazer.

It's been a massive learning curve and lesson in humility for me, as I'm an ex nurse with (like you) a LOT of experience with children (although I only have the 1 I'm the eldest of 3, have a ton of younger cousins, been looking after other people's kids 'officially' over 30 years inc as a nanny & childminder) and still I didn't marry up all the symptoms (although to be fair it's not my area of expertise medically).

It got to the point where dd was spraining a wrist or ankle every other week or complaining of sore hips or knees, we then had a situation which is something LOTS of kids do of slightly misjudging a kerbs depth and tripping up without falling right over, something even most adults just shrug off! Yet the next day her knee looked red, bruised, very swollen & she couldn't weight bear.

We were at "end of tether" stage and were very lucky that when we went to gp surgery AGAIN we got a locum with some knowledge in the area, who listened, looked at dds medical history back to babyhood and spotted certain things and referred us to a specialist.

Specialist appointment was almost weird because before we even sat down she was fairly sure what was wrong! Just from dds appearance (very tall, very slim, "knobbly" joints, spidery fingers, still slightly lazy eye despite treatment) inc comparing to mine! Further observations & tests confirmed but she was right.

I made the mistake myself at first of bloody forgetting all my basic human biology knowledge that a condition that affects muscular tissue WON'T just affect joints. In the year - 18 months that followed dd had palpitations, more stomach issues, and a seriously infected lower eyelid (that doesn't sound so bad right? Wrong! Antibiotics from GP didn't work, it was so swollen she couldn't see out that eye and was in pain eventually we ended up with her in hospital having it drained by syringe daily & on iv antibiotics!) it shocked me!

That's when I was directed to the website I linked by a nurse dealing with us.

We also had the headache of the high school not bloody listening when we were telling them that ON CONSULTANTS INSTRUCTIONS if she felt pain or palpitations she was to stop exercise. This culminated in me temporarily becoming "that parent" taking a photo of dds seriously bruised & swollen knee & ankle following one PE class where the teacher yet again told her to "push through", an a4 sheet of all the effects on heart, lungs, stomach, reproductive system etc into school and threatening legal action if it happened again.

To be fair once the teacher saw the pics & info she was horrified & apologetic and admitted she'd NO idea the condition was "that serious" (despite my sending the school copies of letters from GP AND consultant) and from that point she was very supportive of dd and even researched exercises she could do as alternatives when the class were doing higher impact stuff dd couldn't.

Dd herself is baby daft and worries if her fertility or pregnancies will be affected (we can't seem to get a definitive answer on this), I had spd from quite early on with her and that is likely to be the case for her too.

Sorry I know this may all sound very worrying but the fact is IF that's what's wrong as with most conditions an early dx & treatment/support really helps.

"Once you are in the system things happen a lot faster" definitely agree with this.

Frequent uti's with eds too. Dd been having trouble with this last few months, then I says to her did she remind/tell GP about eds (she'd forgotten to but personally I think things like this should be flagged on patient records - that's a whole other thread) and then next time she did and they gave her different (stronger?) antibiotics and an anti-inflammatory too and it SEEMS to have sorted it.

@Pythonesque yes, the theories have progressed even in the 7 years since ds was diagnosed. They are now saying the mitochondrial disorders are actually not just mitochondrial dna mutations, but disfunction in the mitochondria that can come from nuclear dna mutations (with probably some sort of permissive mitochondrial mutation). In my ds' case he has 2 nuclear dna calcium channel mutations, one from me and one from his father. He also has a mitochondrial dna mutation that I have, my mother has and my daughter has. I have one of the calcium channel mutations, and my daughter has the other, but poor ds got the double whammy. There are probably other mutations that we haven't yet identified.

Ds' geneticist, Dr. Boles (he has quite a few published papers that are worth reading) is treating his patients with a cocktail of supplements that help the working of the mitochondria. He has some anecdotal feedback from his patients as to which supplements work on which mutations. He also has a stable of off label prescription medications that seem to help with certain mutations. In ds' case we found that Acetazolamide was very helpful (it normally prescribed for altitude sickness and does something to the ph of the cell. Dr. Boles has found that it works well for his patients with calcium channel mutations. Dr. Boles is also finding that the same cocktail (and some of the medications) work well with about 40% of his patients on the spectrum. And with epilepsy. I would be interested to know if the cocktail helps with EDS symptoms.

I agree with PP's who have recommended a log of symptoms, treatments and diets. I found that presenting doctors with the log, minus any emotional drama, was far more effective than trying to emotionally explain the issues. Also, with getting an IEP from the school, the most effective thing was a log of the number of school days that he missed presented as raw data (with a summary of the number of days each semester). For some reason my saying "he missed a lot of school" wasn't believed, but the actual data of the days missed was.

My (grown up) dd is undergoing tests at the moment for constant low level infections but they cannot find an obvious cause, interestingly they asked about eds in the family as dd gets unexplained leg pains - apparently it can be undiagnosed until adulthood in its mild forms. I'm not convinced as I'm sure it's not in our family (it's through the female line) but my grandmother did have a lot of sickness - she had a "weak constitution" I'm told.

this sounds just like my daughter.

has she been checked for enlarged tonsils and sleep issues? my daughter has now had her tonsils removed and aged 5 is much better.

she still complains of sore joints and exhaustion a lot. we have a follow up paeds appointment in a few weeks and don't really know what more to say.

Is she a mouth breather? Does she have restless sleep/snore? Just thinking it may be enlarged tonsils/adenoids, thry can attract infection when big. My son was like it before he had them out, he caught every bug and was labelled asthmatic but after removal and one particularly horrific asthma attack (life support, then nurses cleaned his lungs out) he was vastly improved.

I was thinking could even be something like the bacteria from the infections travelling elsewhere and apparently you can get something called septic arthritis.
Or things like juvenile arthritis etc cause fevers.

I thimk it's likely with go refusing AB that more people will be left with complications.

I also think they underestimate how awful kids feel if the keep getting ear infections /tonsillitis.
It can causes adhd like behaviour and glue ear