Not EGID - What else could it be? X-posting SN

[allie193]

I haven't posted here very much but used to read often before returning to work and remembered I got a lot of useful info here irt my kids' health issues and I'm lost again and am wondering what else we should be looking into. I appreciate any suggestions.

Brief summary, almost 6 yr old DD started out with what I suspected was MSPI and did okay if I avoided dairy and soy. I took some bad ped advice and thickened feedings and wrecked my supply so I took Dom and supplemented with Alimentum and continued to bf until a year when I wasn't producing any bm even on Dom. She had been growing well until 6 mos when we started solids, she stopped gaining well, started crying a lot, stopped sleeping, etc, but I didn't make the connection at the time. As a toddler she was FTT, had a developmental regression, was suspected of having autism, etc, and improved dramatically when we took her off goat's milk even though it had initially seemed safe. She started talking within two weeks of stopping it and gradually improved in most other areas as well. Recently she has started losing more foods. She was already off dairy, soy, goat's milk, kiwi, and a lot of artificial additives like dyes so we stick with mostly natural/home made foods. In the past few months she has lost wheat, nightshades, and now eggs. She is not gaining weight and has lost a couple lbs now, she was 37.5lbs and is now 35lbs. She has been vomiting more again, generally she wakes up and throws up a couple times and then feels okay after but it is not "normal" vomit a lot of those times (tmi warning! it is often brown and smells so bad I've had her check and make sure she didn't have a bm while vomiting, the whole house smells after) and will happen a couple weeks apart for a day and then nothing for a month or two and then a couple more days a couple weeks apart, etc. She has also started to complain about her heart hurting, from what I can tell it's "heartburn" so now she's asking all the time why she has heartburn. She is also *constantly* hungry and will ask what she's having for her next meal/snack while eating one. Her behaviour has improved dramatically as we've figured out some of the food stuff, she is a little less picky and anxious which is good b/c with the restrictions pickiness is not an option and the anxiety causes a lot of behavioural stuff (esp with control issues). She is still getting red cheeks and eczema on her hands that gets to the point of bleeding occasionally and only mildly elsewhere. She had bladder issues but she's been pt'd so long now that I am not sure if she still does, she would have the frequent small pees that seem to be related somehow to allergies (I wish I'd known, we've seen a urologist, nephrologist, had two vcug's, etc, for that with constant blood in her urine which is apparently most likely caused by irritation from food allergies).

ODS turned 2 in early Feb. I was lucky with him that I knew what I was dealing with right away, he started vomiting mucous from birth which we thought was from his quick birth but it never stopped and soon he was having mucous in his bm's as well. By 1 month he had dry patches of eczema and I'd already eliminated dairy and soy and was starting wheat. By 8 mos when he had only gained 2lbs since 2 mos he was admitted and switched to Neocate. He had been gaining a little and then losing it for a month or so by then and I'd avoided everything I could think of and even ate nothing but potatoes, pears, and chicken at one point since I'd had that recommended but it didn't help. He couldn't tolerate any solids. He had been scoped at 7 mos and the GI dr said the slides were normal, he had been sure ODS would have an EGID but left it as multiple food protein sensitivity and suggested we wait 4 mos on Neocate before trying solids if it went well. Steroids were mentioned but only if nothing else worked. When he was switched to Neocate ODS had lost so much fat that when he stood against the edge of the bath his legs that had been chubby as a newborn sagged in folds toward the floor. We started solids at a year and it took a few mos to get him to willingly eat much, he had a few foods from 15-18 mos when he started losing foods again. He had off and on diarrhea, started refluxing more again, more eczema, waking in the night screaming, was miserable. By 22 mos he had lost most of his foods again, at 23 mos he was getting just Neocate and rice but still had symptoms so just after his second birthday he was back to just Neocate. We tried switching to E028 Splash and he doesn't seem to tolerate that so we're trying to transition to Neocate Jr now but this is day two of two scoops/cup and already he has eczema and is mucous in his bm's so it's not going well. He's also saying "oww" and grabbing his lower belly a lot. When we saw the GI dr recently recommended immunology testing so we've asked the allergist about that and will be talking about it in May I guess. His main symptoms before stopping foods again were diarrhea, reflux, eczema, stomach pains, food refusal, red ring, dark circles, and frequently peeing a couple drips at a time every couple of minutes (while desperately wanting to pt and I won't let him take his diaper off b/c when he has diarrhea it seems to strike him from nowhere).

BDS is 7 months old now and is not as as severe as ODS was as a bad but is worse than DD was. We have been trying solids for two mos now and he loves eating but vomits even more and has all the other signs as well. I haven't found a food I am sure he is tolerating at all and have given up for right now on that. He cries a lot and I wish I could make him feel better.

So is there anything they're missing I should be asking about? DD was seen by genetics/metabolics who spent barely any time with us and then said they thought she was fine but would take some blood to be sure so I may ask for a second opinion and have all three kids seen if there's anything there that should be considered. Our family dr is very frustrated with the lack of answers as well and is referring the kids for a second opinion in a bigger city hoping maybe a fresh pair of eyes will be able to figure it out. An official diagnosis with some sort of expectations would be nice, right now we have nothing but strange looks and comments about our kids' diets. It would be so much easier even if I could say they have "____" instead of trying to explain why they can't have almost everything.

Thanks for reading and even just reassurance that I'm not alone with this. A lot of days I'm feeling like I must be crazy, I must be wrong about some of this stuff or it's something else altogether b/c that's what I'm always hearing. Recently ODS had a GI bug that landed him in the ER on IV's and my mom decided to tell me it's b/c he's not getting solids and therefore has nothing to fight it off b/c he NEEDS food, I guess I needed the guilt?

[lil_miss_understood]

Yowzers, Mama. You've been through a LOT! :hug

I am not even sure what to suggest to you. The only thing I can think of is to ask if you've considered running an OAT (check this thread for some idea of what it is, maybe) to see if there is some sort of bacterial imbalance and doing a search for posts by changingseasons (DD1 is dx'd with EGID) and I think sbgrace (child has FPIES, I believe).

I'm so sorry that it took 2 days to receive a reply on your post. I hope that by bumping this up, someone else more helpful will see it.

[sbgrace]

I'm going to suggest you do a metametrix comprehensive stool and urine test.

The urine will look at metabolic stuff (not officially...but it will pick up things like mitochondrial dysfunction I'd want to look at in your situation) among other things. It may give you a lot of information. The stool will find out if anything living in there is making the symptoms among other things. If you have a doctor who will order I'd do them. You will likely have to pay out of pocket at least initially. Our insurace did reimburse us at out of network rates. It was worth every penny.

I have a post i made on metabolics. You might look at it.

[allie193]

Originally Posted by lil_miss_understood 

Yowzers, Mama. You've been through a LOT! :hug

I am not even sure what to suggest to you. The only thing I can think of is to ask if you've considered running an OAT (check this thread for some idea of what it is, maybe) to see if there is some sort of bacterial imbalance and doing a search for posts by changingseasons (DD1 is dx'd with EGID) and I think sbgrace (child has FPIES, I believe).

I'm so sorry that it took 2 days to receive a reply on your post. I hope that by bumping this up, someone else more helpful will see it.

Thank you! I will look into that. I'm in Canada so I have to see how it works for me to have any testing done, we usually have to have all tests ordered by a dr.

Originally Posted by sbgrace 

I'm going to suggest you do a metametrix comprehensive stool and urine test.

The urine will look at metabolic stuff (not officially...but it will pick up things like mitochondrial dysfunction I'd want to look at in your situation) among other things. It may give you a lot of information. The stool will find out if anything living in there is making the symptoms among other things. If you have a doctor who will order I'd do them. You will likely have to pay out of pocket at least initially. Our insurace did reimburse us at out of network rates. It was worth every penny.

I have a post i made on metabolics. You might look at it.

Thank you. I will look into that test, I don't generally have to pay for most tests here but will ask the dr about it. We did go to genetics/metabolics when we had just DD, even with a history of 8 m/c's and DD at the time having dev issues as well as the food stuff and all the other unusual issues we had a resident spend a couple mins asking qu's and then the dr came in, told us they didn't suspect anything but would run a couple tests and call if they found anything, if they didn't call we didn't need to follow up. There was no call. It was really frustrating not even being really taken seriously. We're in a city with teaching hospitals and a Children's Hospital but haven't had much luck and are starting to get referrals to Toronto to Sick Kids so maybe I'll ask for another metabolics/genetics referral, all the dr's keep saying they'd love to see what is up with our genetics to have 3 kids with these problems.

[lil_miss_understood]

Thank you, Rachelle. I thought you might have a better idea of what to do.

With that history of m/c's, I would like to suggest that you ask for testing for at least the MTHFR gene mutations for yourself as well.

[sbgrace]

I'm sorry metabolics didn't know what they were doing. I agree something sounds like it is up. Did anything in that post ring bells? If you've got certain issues (mitochondrial for example) it really matters where you go because so few specialists are aware and the testing and interpretation is, at this point, more complicated. It's frustrating for sure. I hope someone will order the metametrix for you/it's able to be done there. I think it would be very helpful.

[allie193]

Yes, some of it did and I remember reading something like that before the genetics/metabolics appt which is why I was annoyed with how we were treated.

There are many metabolic conditions that might be behind special needs. Indicators of possible metabolic issues

Suspect metabolic issues if you see some of the following in your child:
1. the developmental issue is not typical (example for autism would be a child who seems at first glance to be "too social" for example) She was suspected of having autism but was too social and improved with diet related changes as well, stopping goat's milk was huge for her.
2. any regression in development, loss of physical skills, language, etc. She lost all her words at 15 mos and didn't start talking again until we stopped goat's milk around her second birthday
3. easy fatigue, tiredness, any loss of strength or physical ability. She complains all the time about not having any energy and needing to eat but I can't tell if she's just being dramatic or not, she wants to eat constantly, it never stops so this may be her being a bit dramatic for effect. She has mild hypotonia in her legs, at almost 6 she still has difficulty riding a bike with training wheels b/c it's hard for her to pedal.
4. any seizure history Febrile and one that we aren't sure of the cause when she was a toddler.
5. you notice changes associated with food; food avoidance; symptom change during illness or fasting She's very picky and used to be worse with food avoidance but has improved as we've figured out some of her allergies.
6. child doesn't consistently gain cognitive skills or learn consistently. Other than her toddler regression I don't think so.
7. family history includes other affected siblings; history of miscarriage All three children have allergy and weight issues, I m/c'd 8 times while TTC them (well BDS was a HUGE surprise so TTC DD and ODS).
8. Issues with growth All three kids are FTT.
9. Motor skill delays. Only slight in DD, ODS was late sitting and BDS seems to be heading there too but both are b/c of arching and seem on target otherwise.
10. small head or head that does not keep up with growth. Not that I'm aware of.
11. blood or urine abnormalities. The boys haven't been tested for anything but DD ALWAYS has blood in her urine and usually white blood cells as well, she has been through a lot b/c of this and no cause was found so they have decided it was bladder irritation caused by allergies.
12. Particular to mitochondrial (more information below): three areas of health and/or development are affected in a child. (example, child has constipation, developmental delay, muscle weakness)
No child would have all of these so if you see your kiddo in this at all I think a metabolic and mitochondrial work up is needed. Adapted from: http://www.vsan.org/rok-az/misc/Meta...Geneticist.pdf

One metabolic condition (one of many) is mitochondrial myopathy. I'm highlighting that because so many drs. are still unaware and it is one of the more common conditions.
Here is a clip about mitochondrial disorder--which can be behind special needs even when we as parents are unaware. I think the current estimated incidence is 1 in 1000. I saw a small study that found signs of mitochondrial dysfunction in 20% of those on the autism spectrum. Point is it is much more common that previously believed and is often missed or undiagnosed. Video clip about mitochondrial Disorder

Possible symptoms of mitochondrial disorder (it would affect three areas in mito disorder--not all areas so brain may be unaffected; muscle is frequently and it seems energy is as well):
Brain: Developmental delays (inc. autism, ADD, learning difficulties), regression, mental impairment, dementia, seizures, neuro-psychiatric disturbances, atypical cerebral palsy, migraines, strokes.

There is some possibility DD has ADHD but her anxiety symptoms are so similar that they can't be sure yet. She was suspected of having autism as a toddler but was too social, she improved dramatically when we stopped goat's milk, she started talking again within two weeks after having stopped completely around 15 months. She's had a few seizures, all seemed to be febrile but one we're not sure of the cause. So far the boys seem okay though.

Muscles: Weakness, hypotonia/low muscle tone, cramping, muscle pain.
DD has mild low muscle tone in her legs, not sure about the boys, she has A LOT of cramping and for awhile was having charlie horses more than once/day and now has them infrequently b/c she's learned how to stretch to stop it as it starts so it's usually in her car seat if it happens now.

Systemic: Failure to gain weight, short statue, fatigue, respiratory problems including intermittent air hunger. All three have difficulty gaining weight. I am not sure about the fatigue. DD and ODS have occasional asthma problems but okay otherwise.

Nerves: Weakness (which may be intermittent), neuropathic pain, dysautonomia, absent reflexes, gastrointestinal problem (gastroesophogeal reflux, delayed gastric emptying, constipation, pseudo-obstruction), fainting, absent or excessive sweating resulting in temperature regulation problems. All three have had issues with reflux and delayed gastric emptying, DD would vomit food she'd eaten up to 16 hours before still completely identifiable, DD also had problems with constipation which improved with probiotics when she was supposed to start Peg, the boys tend towards diarrhea, all three are VERY sensitive to hot and cold but seem to sweat and stuff normally.

Kidneys: Proximal renal tubular wasting resulting in loss of protein, magnesium, phosphorous, calcium and other electrolytes.

Heart: Cardiac conduction defects (heart blocks), cardiomyopathy.

Liver: Hypoglycemia (low blood sugar), liver failure.

Eyes: Visual loss and blindness, some forms of strabismus.

Ears: Hearing loss and deafness.

Pancreas: Diabetes and exocrine pancreatic failure (inability to make digestive enzymes). Some individuals diagnosed with diabeties actually have diabetes secondary to (caused by) a primary mitochondrial disorder.

We have an appt with the ped in a couple weeks, maybe I'll ask to go back to genetics/metabolics and hope for better luck this time? The part that doesn't really fit to me is that DD has improved which I've read that kids with mito and metabolic issues don't?