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Oh god hold my hand.

(284 Posts)
OpheliasWeepingWillow Wed 12-Dec-12 16:04:04

Am in Asia and about to sleep but neurologist says dd who is in hospital (10 months) has delayed brain development. This is in conjunction with failure to thrive and a flatlining curve. They are looking at metabolic and genetic disorders and I am beside myself. Couldn't find Special Needs on my stupid phone.

Spinal tap tomorrow I think.

So scared. She is my world.

fluffynurse Thu 17-Jan-13 04:50:16

hi again,

Follow-up from my post from Sunday night : So i saw my family doctor on Monday, of course at first he was a little skeptical re. the literature i brought him about lysinuric protein intolerance, however he was open to the idea of reading it and getting back to me... he also agreed with me that regardless or not of weither he thought the twins had that condition or some other condition, that it was not acceptable to have us wait until mid-march for our next children's hospital appointment... so he said he would definitely call the hospital and advocate for us... as the twins weight and height have not changed in the last 6 months sad ... he did skim the articles while we were in this office, and he did check the twins growth charts, and sure enough he noticed that their decline in growth coincides with no longer having breast milk..!...
So then on Tuesday we got a call to see a developmental specialist (whom we were originally told would have an 18 month waiting list)... now we're going to see her this coming Monday!!!... Then an hour after that, we got a call and now on January 31st we are going to have a genetics consult!!... I can't believe this is all happening... it's not like I want them to have this severe metabolic disorder, but at this point since some of the damage can hopefully be revered, and since it beats not knowing what is wrong with them, I'll take it... Of course we don't know for sure if that's the illness they have, but I suspect if it's not that one, then it's another amino acid type disorder, since the twins reacted to an amino acid formula.
Hope things are ok on your end, hugs.

tangledupinpoo Tue 15-Jan-13 12:34:44

Ophelias, sorry things are still tough. Narmada is right, whilst the meds will immediately get to work on the acid, the inflamed oesophagus will take a while (but only a short while hopefully - weeks rather than months) to heal.

You are seeing the Portland gastro again quite soon aren't you? I guess if things don't improve, he will do an endoscopy and biopsies to see what's going on?

Don't know if you've already had a pH probe test - I don't think you've mentioned it - no anaesthetic needed, just a little tube-like wire which goes through the nose and down throat like an NG tube but the end sits in the oesophagus. It measures the acidity over a 24 hour period then at the end you get a percentage of time during which the oesophagus was under pH4 acidity, and from there a grading of seriousness of reflux.

I know tube-feeding sounds hideous, and your DD was upset by it initially, but really, it does get better. They do get used to it (I remember my DS pulled his tube out 7 times in 3 days in hospital, but then only once the next week, then much more infrequently after that) and it takes so much of the pressure off voluntary feeding.

Just hoping to reassure in case you do have to go down that route for a bit.

I do so feel for you. Every description of your DD could be my DS at that age - really, everything. But your DD's earlier weight and height rule out my DS's condition. But part of my DS's condition involves severe reflux iyswim! (Helpfully, it also involves their appetite being set a bit wrong so they don't know that they need to eat a certain amount to nourish themselves confused !)

larrygrylls Mon 14-Jan-13 10:08:05

Hi Ophelia,

There is no harm in testing for rare conditions (although it is possible that she has already been tested for them in Asia). On the other hand, gagging strikes me as more psychological than physical. Why did the psychologist rule out psychological causes? Have you tried leaving her alone with food (croissants, ice cream etc) for a while when she is hungry. She may well associate her messing around with food with getting attention from you, which is a hard habit to break (not sure I have managed yet 2 years later!) for a concerned parent.

The good thing is that she must be a year now, so starting to cruise and pull herself upright. Generally digestion works a lot better in the upright position so, if reflux is the cause, it should slowly begin to right itself.

Best of luck.

fluffynurse Mon 14-Jan-13 07:38:54

Hi, it's almost 2am so I don't have a lot of time to chat right now, I can chime in with much more detail later, but I felt that I just had to share some information with you tonight. I stumbled across your story a few weeks ago after doing some google searching of my own and have been lurking since. I can relate to alot of what you say. I have a 3 year old daughter and twins.

All 3 of them have issues with low weight (around 5th percentile), my twins have it worse, as their height is also affected (they were born in the 50th percentile for height, and are now in the 10th percentile. My ODD finally walked at 23 months. She attends part time preschool and teacher finds her "intelligent and cooperative", etc.

All 3 of them get horrible open sores on their genitals and buttocks from milk ingestion. My odd also gets rashes from some wheat products. We've been having the runaround for years, nothing conclusive as to what it is, as it tested negative for allergies in my ODD.

My concerns are skyrocketing for the twins, as they are 18 months and girl twins cannot sit up, but she can roll. Boy twin can sit, but cannot get out of that position. I cry every day watching them lie on our floor immobile. They do smile, clap, give "hi-5", etc... I always suspected my twins have the same condition as my ODD, so while it bothered me, I was reassured that my daughter is relatively normal as she walks, goes to school, etc...

My Odd was fully breastfed for one year, twins were unable to latch (even odd took 3 months to latch but i was persistent), with twins I was unable to get them to latch but pumped my milk until my doctor wouldn't renew my domperidone lactating meds anymore at 8 months because of a potential safety issue with the meds... it broke my heart as I was convinced it was the breast milk helping my kids, since the rashes and developmental delays got worse after stopping breastfeeding.

We have been referred to a developmental doctor ,,, like you, doctors just look at me like I'm crazy when I go on about my theories that the rashes and the developmental delays are related and that the key seems to be the breastfeeding... i tell them how it seems my odd is better than my twins since she got more breastmilk, etc.... the docs tell me there is no link between the rahses, the developmental delays or the breast milk. the doctor also sat me down and said that she looked over my odd's file and my twins and says they are 2 different conditions (ie. that they may both have a milk intolerance of some sort, but that otherwise it's a different condition, shes thinking neuromuscular)...

... My general family doctor referred me to a pediatrician in September, whom I finally saw in November and again in December... I am awaiting to see a neurologist and a metabolics doctor... problem is I'm in canada, and I still haven't seen anybody and my twins are getting weaker, my husband and I are losing our minds, I've lost ten pounds from stress in the last month or so ... free health care isn't always great... all we've had done so far is a hearing test! sad ... anyway, we've been debating going to the usa to pay for treatment,

... I am a nurse in a hospital and I teach nursing part time... so I have access to health reserach databases.... and my husband works in computers but took some biology courses in university, so he helps me to search through them... it helps us deal with the powerlessness we feel in this situation... I can't tell you how many hundreds of times in the last 3.5 years I have searched all these symptoms and never came up with anything in the databases.... until now.

What happens to your daughter when she ingests neocate? I went out and bought some hoping it would help our twins as they are getting weaker and losing more weight... well imagine my devastation when it gave them the most nastiest rashses of all the foods ever!!!!! It's supposed to be hypoallergenic!... So I called up neocate Canada and talked to the nutritionist there and said that reactions to neocate are very rare, like she said they had "a few" reports of it in all of the United States, and none in Canada... My odd also got a smaller rash from it (nothing near as bad as the twins, both of them have bleeding sores on their genitals, we were in teh emergency room telling them this but all they did was prescribe hydrocortisone cream ). So I asked her if the other people that called them had any idea what was wrong with their kid. She stated unfortunately they didn't say, but we discussed more about my kid's rashes.. they get a rash from cow's milk, NOT from goat's milk (but it seems to stall their developement), NOT from nutramigen (it's what we're using now since we used it on our odd), and a massive rash from neocate.. they also drink alot of rice milk... we concluded that it could be something in the digestion of amino acids, since neocate is an amino acid based formula... other possibilities we mentioned were problems with sugars, fats or carbs, since we thought it was weird that the goats milk has protein and amino acids and doesn't cause rashes...

We have recently been assigned a dietician at the hospital while waiting further testing... so when we explained her the story and what the neocate rep. said, her first reaction when we told her about the rash was to ask us if we were sure we haven't changed diaper brands (same cloth diapers since twins' birth.... I had been through all this before, ruined a batch of cloth diapers by bleaching them when my odd started similar rashes when she weaned off breast and went on cows milk at one year old). ... she phoned me back later and mentioned that some people have an illness where they pee out their proteins instead of absorbing them which could cause weight loss, developmental delay, etc... She then said she would call the metabolics specialist office to see "where we are on the waiting list"... I can't take this waiting anymore, I'm going insane.

... so armed with that information, I began a vigorous search through databases... having the words metabolic... protein.... really helped to at least start to narrow my search.... I read through the descriptions of hundreds of different diseases, having to google so many words to find out their meaning (I am a nurse, but nonetheless this sure is very technical stuff as us nurses tend to deal more with the bedside aspects, but I could still get the basic principles behind what I was reading)...

Then I stumbled upon : LYSINURIC PROTEIN INTOLERANCE (LPI) . I began to shake as I read about this illness... my husband was in the washroom at the time but I ran in with the laptop to show it to him... he was skeptical at first (as we've gotten our hopes up so many times in the last 3.5 years of searching), but after reading more and more articles about this we believe our kids may have this (or an illness in this family of illnesses), as it explains so much about them...
I have copied and pasted some information about this illness, I wonder if this is something your doctors have checked your daughters for : If you'd like to PM me your contact info. I can send you some articles to further read if you'd like :

Below I pasted for you the intro of an article that summarizes this illness : It's so rare that is why nobody knows about it!!! Have your docs tested your daughter's lysine levels? This is a disease of lysine transport (it's an amino acid... hence why my kids react to the amino acid based formula... when you can't transport lysine, you end up peeing it out .. hence why the lysine levels are high in the urine tests despite being low in blood... In the urine, ornithine, and arginine would also be elevated as they are all part of the broken metabolic process... one of the key features of this disease is that symptoms are noted after stopping breastfeeding!!!!!!!!!!!!!!!!!!!!!!!!

Here is the info from the article :
Lysinuric protein intolerance (LPI) is an inherited aminoaciduria caused by defective cationic amino acid transport at the basolateral membrane of epithelial cells in intestine and kidney.
LPI is caused by mutations in the SLC7A7 gene, which encodes the yþLAT-1 protein, the catalytic light chain subunit of a complex belonging to the
heterodimeric amino acid transporter family.
LPI was initially described in Finland, but has worldwide distribution.
Typically, symptoms begin after weaning with refusal of feeding, vomiting, and consequent failure to thrive.
Hepatosplenomegaly, hematological anomalies, neurological involvement, including hyperammonemic coma are recurrent clinical features.
Two major complications, pulmonary alveolar proteinosis and renal disease are
increasingly observed in LPI patients. There is extreme variability in the clinical presentation even within individual families, frequently leading to misdiagnosis or delayed diagnosis. T
his condition is diagnosed by urine amino acids, showing markedly elevated excretion of lysine and other dibasic amino acids despite low plasma levels of lysine, ornithine, and arginine. The biochemical diagnosis can be uncertain, requiring confirmation by DNA testing.
So far, approximately 50 different mutations have been identified in the SLC7A7 gene in a group of 142 patients from 110 independent families. No genotype–phenotype correlation could be established.
Therapy requires a low protein diet, low-dose citrulline supplementation, nitrogen-scavenging compounds to prevent hyperammonemia,
lysine, and carnitine supplements. Supportive therapy is available for most complications with bronchoalveolar lavage being necessary for alveolar proteinosis.

I happened to already have an appointment for my twins regular vaccinations tomorrow, they have the flu and are not getting the vaccines, but I will be showing this to my doc in the hopes he can contact the children's hospital and get us seen !!!!

... also, low lysine foods (which are in turn high in arginine) will cause problems in people with lysinuric protein intolerance... ie, my odd also reacts to soy milk, mini wheats cereal... those foods are high in arginine!!!... hence why it's not an actual allergy... it's a disorder of amino acid transport....

Ok, I apologize for the lenght of my post, I hope it can be of assistance to you, keep us posted... thanks for reading my extremely lengthy post (writing this all out and sharing it basically feels like therapy for me at this point as our family has been stressed for so long) sad

good luck and prayers to you...

narmada Sun 13-Jan-13 22:48:42

Oh you poor thing. So sorry no improvement. It could take a while for any oesophagitis to heal.

Nexium is being taken on empty stomach right? And then leaving 30 mins before milk/food?

Re milk allergy.... haven't you already rules that out by trying neocate for weeks on end? Thought I remembered some trials and tribulations over that.
Has she had any motility agents like erythromycin yet? When DS had antibios he was suddenly gobbling the milk down, twas a sight to behold.

Chin up Ophelias. It honestly will get better. Keep the faith ;)

dikkertjedap Sun 13-Jan-13 21:26:26

Sorry to hear that it is still a struggle.

With your dd still being so young, she will have forgotten all about this time when a little older. Totally understand that you don't like tube feeding, but if it is what she needs do rest assured that she will not remember any of this. It is most harrowing for you.

Thinking of you.

ChaChaDigregorio Sun 13-Jan-13 21:25:00

My dd went from 50th percentile to 0.4 at about 4 months. By 10 months she was 7.4 kg. she's now 5 and 90th percentile for height, 50th for weight. Babies growth can be wierd... Hope this helps.

bamboozled Sun 13-Jan-13 21:06:02

I'm sorry it's not getting better yet. Thinking of you both x

OpheliasWeepingWillow Sun 13-Jan-13 20:28:31

ilovesprouts is it this one?

ilovesprouts Sun 13-Jan-13 18:26:31

we are waiting to hear about the DDD study .

takeaway2 Sun 13-Jan-13 17:30:14

I'm so sorry there doesn't seem to be any improvement. Did the dr say how long it might take the meds to kick in?

I recall earlier you saying she was helping herself to some food whilst at your inlaws? Croissants? Or something like that? Did she gag and throw up?

I have a friend whose daughter had vv severe reflux. Eventually diagnosed ftt and sent to consultants etc. she was on all the drugs available and through sheer perseverance the dd is now walking and mostly developmentally on track. She looked vvv skinny and not well when she had the reflux. She's now months or so...

OpheliasWeepingWillow Sun 13-Jan-13 16:35:02

Well last week we saw a dietician who added Duocal to her feeds but dd has still a 300 calorie deficit every day which we cannot fill with solids as they make make her vomit.

So we saw a child psychologist / feeding therapist recommended by the consultant who, after two hours of observing dd, said her problems are clinical not psychological. So she could not help.

No improvement seen yet on the 20mg Nexium although she does seem to be crying for milk. She gets to 100ml and arches and cries sad

Hoping it will get better over the next week.

I need to try dd on spoon feeding again but am so scared. It results in retching, gagging and vomiting and the effects spill over to her bottle feeding.

Dietician said she suspects milk allergy but that means Neocate and there is no way in hell dd will take that. Maybe if it is 90% chocolate syrup...

Anyway I am not feeling so hopeful now. Both dietician and therapist said I need to consider tube feeding if consultant thinks she needs it but the last time was so harrowing not sure how it will help.

Really want to go home....

I know she is in the best hands now. Would be lovely to have her actually on the chart. Her stomach has NO fat.

And she has a cold. Honesty I think we might be cursed

<not that optimistic today>

bamboozled Fri 11-Jan-13 19:51:01

How are things going - is she eating more now her meds are increased?

tangledupinpoo Wed 09-Jan-13 11:52:38

So pleased, Ophelias, that you've got a diagnosis and treatment plan. Fantastic news.

I hope the treatment starts working very quickly.

We found that, following a endoscopy and tripling of DS's reflux meds dose, he was almost instantly easier to (tube)feed, and from that point his weight and height line on the charts slowly and steadily climbed smile. He was on 30mg Losec daily at 9.5kg weight at one point, so mega-dose.

Very much hope the tough part is behind you now and your DD goes from strength to strength.

ovenchips Wed 09-Jan-13 10:39:03

I am so pleased you are finally getting somewhere. It was a bit scary just reading the thread and imagining the worry and distress.

I also just wanted to say a big well done to you for getting to where you are now. It hasn't been easy (understatement) but you've been amazing in your quest for answers.

I really hope it's all onwards and upwards from now. It sounds like it's happening already. If you are at all able do update the thread with how your lovely DD is doing.

Alibabaandthe40nappies Tue 08-Jan-13 23:34:16

Ophelia I'm so pleased you've got a diagnosis! Fingers crossed she keeps going with the milk.

bamboozled Tue 08-Jan-13 23:24:11

Oh I am so pleased, at last there will be a plan! isn't it a relief when they say - oh yes, that's terrible reflux - I cried with relief when the pesky one had her barium swallow and the consultant actuslly saif "oh my god" when we watched her stomach empty itself back up. Life can ony get better from here xx

Madsometimes Tue 08-Jan-13 21:16:07

I'm a long time lurker, and am so glad that you have seen a doctor that understands.

My dd's didn't eat solids until they were one year. They had a terrible gag reflex and hated solids. Fingers crossed your dd will slowly get the hang of eating.

takeaway2 Tue 08-Jan-13 19:50:34

Oh brilliant!! smile It's great to have a diagnosis finally! Lets hope the drs get it all right from now. When do you go back to Asia?? Or will you be here for the near future?

OpheliasWeepingWillow Tue 08-Jan-13 19:39:47

BarbarianMum yes, Dr 1 called her a 'Reflux Cripple' (!) but at least I am being taken seriously at last smile

narmada Tue 08-Jan-13 19:39:20

Hurray. I am so pkeased for you. There is an American website that recommends megadoses of PPIs for v severe reflux. Sorry can't remember its name but sounds like this may be path yiyr UK docs following.

She is sounding more and more and more like my friend's daughter. She is two and a half now, super cute, and intelligent.

BarbarianMum Tue 08-Jan-13 19:37:31

Wonderful to hear some good news smile, it really sounds like you are getting somewhere now.

Silent reflux on this scale is awful but much better news that a metabolic condition.

OpheliasWeepingWillow Tue 08-Jan-13 19:31:08

ilovesprouts am sorry re no dx sad for your DS

OpheliasWeepingWillow Tue 08-Jan-13 19:30:37

Update! thanks for asking everyone

OK, so I saw Dr 1 at Harley Street who said brain seemed OK but is getting someone else to look at the MRI video. Likely just undernutrition. He was lovely. Said seems she has Silent Reflux and not some underlying disorder such as genetic or metabolic.

Went today to see Dr 2 at Portland Hospital and he said:

Definitely Silent Reflux. She's below the 0.4th centile now (so super skinny) and her height has dropped from 97th centile to 50th (!)
Doubled her meds
Is not going to endoscopy or biopsy etc as positive result would not change his treatment protocol.
He recommended dietician so am seeing her tomorrow morning to see what can be added to her formula to make her fatter
Seeing another feeding therapist next week.

He was extremely calm, matter of fact and to the point. Very reassuring and am seeing him again in two weeks.

DH not coming over for a month but am so GLAD I have someone who actually knows about Silent Reflux and who BELIEVES ME.

Happy now. DD has been crying for bottles today (!) and she fed herself a piece of croissant so I am ramping down the panic for now

ilovesprouts Tue 08-Jan-13 17:54:24

i have ds2 whos 6 still no dx ...

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