Any information from others that may have being affected
Alagille Syndrome: Any information from... - Children's Liver ...
Alagille Syndrome
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reuben
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my son has alagille syndrome he's one year old. he's not good with food doesn't eat much still on bottles. he's very itchy always bleeding from the forehead and inside his ears.
Hi we have just found out our son has the syndrome he seems to itch his ears and makes them bleed he his 6 mnths old.havent started him on solids yet still on this special milk to try build him up as also needs transplant,he doesnt take much only 4-5oz.if you dont mind me asking how much does your son weigh.is he otherwise ok crawling etc.
Hello, my son also has alagille syndrome, he was diagnosed within weeks of birth due to our very alert health visitor. He too is always itching and bleeding from the forehead and ears and the biliary salts make his skin bumpy to touch on his arms and legs. He is nearly 18months old and a very happy chap but does struggle eating, has not crawled but is finally cruzing.
My son has now been changed to fortini milk and he really likes that milk, due to teething he currently is hardly touching solids.
My sons weight has been a constant in conversation as it has been a struggle, he has just hit 19lb, I really think it has been all down to the fortini milk which can be given from 12 months.
I can try to help answering questions as he seems to have all elements that make up the syndrome and he too is heading toward a transplant in the future.
it is great to here from someone else with the forehead itching as people ask about it all the time as it looks like he has been attacked by a cat!?
hi disneymum, nice to hear from you.Reuben is 6mnths old he weighs 8.61/2lbs he has biliary agenesis which means he has no bile ducts in his liver and recently we got told he has alagille syndrome was pretty upsetting hearing this dont no much about it.He is a really happy content little boy always smiling and laughing he is on infatrini peptisorb milk.he is always itching and making his ear bleed wonder why they itch? not tried him on solids yet
Hiya, great to hear from you, yes I can understand it is very upsetting, my son was only a few weeks old when he was diagnosed after time in intensive care already from having a fibrous cord that broke in the birthing pool, he bobbed to the top of the pool scaring everyone! We were told that his insides were working fine and keep an eye on the jaundice and discharged.
He wasn't putting on weight hardly with breast feeding and his stools were very yellow/cream colour. We then went to Bristol who sent us to Birmingham and stay in the Ronald McDonald for a couple of weeks where he was started on caprilon milk and all the urso etc and had all the tests done and liver biopsy. Hard was not the word, spent half the time in tears!!!
He was 11lbs at 6months but that was because it was caught so early I half breast fed and half bottle. This was hard as when I was out in public people commented that he should be fed by me and not a bottle of formular!I got to the point of people commenting on how tiny he was and that he was so yellow I kept a blanket over the car seat in lifts and small spaces where people were likely to comment!
I actually started him earlier than 6months on solids as Birmingham hospital told me too, the dieticians are fab!
I set to work trying every type of mushed food I could, I make all of his food from scratch adding butter, cream and freeze it in ice trays and have it all organised in zip lock bags in the top of the freezer, I pre made all his milk adding all the extras such as maxi jul etc and lined it up in the top of the fridge.
Organisation is the key to poorly children!!! I have all labeled storage for all my sons milk, meds etc to try to make life easier and almost normal!
It's hard to do but please stay strong as alagille children are renown for being fussy eaters which I am currently struggleing with but they are really happy little souls!
The scratching is mainly on the head and limbs with alagiles so I'm always biting my sons nails, plastering him in oilatum cream and giving him his urso on time as that's all I have that helps him.
The milk really helps so try and persevere as much as you can and if he is being sick there is a thickening agent they can give you and helped us a lot, as my son only had to cough and the whole bottle came up!
The nurses, doctors and pharmisists really do become friends but getting to know them makes life easier! And CLDF really help too! They are all on my mince pie list this year!
Are you going to the conference?
I think I have experienced everything you can with alagille so always ask, I will gladly give help when ever I can x
Hi thank its nice to talk to someone about it,we too have people staring and commenting about his colour and size really gets to you.We go to Leeds on Monday for our routine clinic appt need to see what else they say regarding his weight im keeping a record of how much he has over the 48hrs to show the dietician they also mentioned putting a tube in to gain weight in time so will have to see what they say.
Where are you from cldf are doing a bowling event on sat at leeds are you going there,i have seen the brochure about the conference not quite show if we are going we live in Goole east yorkshire so its quite away.
I no this will sound silly but when we first got told about the syndrome i was really scared and worried that reuben would look different or not develop.stupid i no.
Have you only the one child.
Hiya, we won't be attending that one as we live in Bristol so it's quite far, I'm down in Devon at my mums at this week for a little bit of help, I really envy my friends who have their family near to help! My parents were debating moving due to wills condition, but we love coming to stay in the fresh sea air and go to the beach, it makes a nice change!
Yes that is far to come to the conference, I'm sure they will have literature on the day and I'll keep my ears open for any good tips to make life a little easier!
Don't feel stupid, the first question we asked was if he will be able to play contact sport like hockey and rugby! You have every right to be scared, we were too, but day by day you gain more confidence and knowledge about it.
Yes we only have William, he has the syndrome all the way through, gray rings in the eyes, butterfly vertebra etc, still quite yellow, with thin skin and green veins visible. But on the other hand he is totally switched on, doesnt miss a thing! He hasn't ever crawled and is behind in walking, he has just started cruzing round the furniture and you can see the frustration when his friends just walk off. But he loves books and music, we do loads to stimulate him as nuch as we can.
To boost Wills weight we had maxi jul, liquigen and then carobel as a thickening agent. I also put maxi jul in his water, yogurt, soup, anything like that to boost calories. So they may put things like that as he gets older to help. Percentile will consume you, but all my friends and family love the facebook updates of his weigh in's every two weeks, i make jokes on how massive he has got, it helps to cope!
Have you got Reuben oilatum bath and lotion for his skin? That really helps Will with itching, but he hates socks and shoes as he's always itching his ankles!
Try not to listen to much to negative things that people say, I got myself so worried by doing this, all alagille diagnoses are different, it is a very large syndrome, just find out what he has specifically and work on that. Also, I found as you can tell from the fb comment further up, I made a little booklet on will and alagille syndrome in basic form so they could read and understand and felt more included, but also, if any of their friends had babies with prolonged jaundice etc they could flag it up and may be make a difference to a new little life 
Ps. Don't worry about the tubes, they look scary but really help, Will had one, I have pictures of all that he has had done good and bad so he can see them when he's older, it also helps when you look back to see how far he has come
aww thank you i will get some of that lotion it may help.hes happy laughing smiling grabbing his toys.the consultant who diagnosed use says he has deep set eys,prominent forehead obviously yellow.i cant really see the prominent forehead but then question it all time to myself thinking does he look abnormal but think its just me,cons said noone will no apart from him maybe being small.we have another little boy hes 5 next week.when do you think will will need a transplant.its just a waiting game for us for his liver basically start to show signs of deterioation definately needs one due to no bile ducts.
Yes try the lotion and bath oil too, you can get it on prescription from your gp or health visitor as it is expensive.
Yes apparently those are the signs and when you meet other alagilles children you will see the similarities.
You will question it, Will was six months when he was christened and I look at the photos now as he was small and skinny with excess skin due to no fat.
Oh wow, my nephew will be five next year, loves transformers, knights and Thomas tank!
Is your elder son fully healthy?
We just had the genetic testing done and found out Will was a genetic smash, the alagilles is nothing to do with either of us, even though when I look back in my family my grandpa has quite deep set eyes and a bigger forehead, but Will looks the spit of my husband! Crazy!
Yeah Wills tummy is getting harder and more round so it's a waiting game for us, one day it will be his turn, but I try to set mini thing to look forward to plan for to take my mind off things, like friends and family visiting and holidays etc changes focus off the everyday meds, being sick, no sleep etc other wise I get run down with it all!
How are you feeling in yourself? Do your family help you? Today I just had to get out for an hour to get some fresh air while will was napping and mum stayed home, and tonight I sat and watched all the Dallas my dad had recorded! Guilty pleasure!
I can chat for England on alagilles, so tell me to shut up at any time hope some of this helps x
ha no its ok.yea Keaton my oldest is healthy.couldnt believe we going through all this with our second its funny hes fin and reubens got this with his liver,they did a genetic test but neither me or my partners got it must be way down generations.im ok i think i just put it at the back of my mind try to block it out but when really think bout it just break down and just cant believe its happening its not fair.yea my familys around are good at helping and try and spend as much time one on one with my other son its hard at times,sometimes feel like suffocating,dread sometimes going out and comments but suppose people dont no and be even harder if gets tube.
We went out last night to this charity dinner mum babysat think all wanted to do is come home get pjs on lol.
just hope in future reuben will be fine
hi my son vinny now 14 months due to go to kings for pre liver transplant assessment in a couple of weeks the itching is a big problem has left him with small scars over his forehead and lumps on back of legs no medicines seem to work he also has white lines and marks on his hand soles of feet anywhere he has creases really which we now have been told is due to him having high cholesterol. if anyone has advice on itching that would be great.
Re: the itching. I used to take a rifampicin. Comes in liquid format and I used to have a tablespoon just before I went to sleep. I don't take it anymore. I used to itch a lot when I was younger. I used to get scabs all over the place. Now a days I only really itch when I'm really tired. I'm happy to answer any questions.
Bimal how do you cope with alcohol do you drink at all?
Hi Susie-Lou, I apologise for the late reply. I do drink alcohol but not much at all. I am 32 now and alcohol tolerance is pretty low but that is partly because of my condition and partly because I don't really drink much. It used to be high at university. I have a tub of high strength milk thistle on my desk which I take before I go to bed if I have had a drink on the day.
Hi all
My daughter Erin has allagilles and turned 6 years old in August. Lots of stuff mentioned in other posts is all so familiar, but we are very lucky in that so far she is not as badly affected as some. She has the characteristic shape of face - forehead, eyes, small chin. Her skin is thin on her temples and you can see blue veins. She has mild pulminary stenosis and heart murmor but not bad enough to cause concern. No trouble with eyes and no butterfly vertibrae.
She was diagnosed at 9 weeks old - was a very restless baby with prolonged mild jaundice and was seen by a doctor at local hospital for a severe ear infection who was concerned about her colour and asked to take a blood test. I had raised my concern with GP and health visitor but was told some babies have mild prolonged jaundice and I should not worry!
Results of blood test meant we were transferred to Birmingham Childrens Hospital by ambulance and did not go home for 4 days. It was a very worrying time but the staff were all fantastic and looked after us well.
There is no history of this in our families and we have not taken any genetic tests. We decided that we were probably just unlucky with a naughty JAG1 gene that decided to malfunction! We have a 9 year old son who is not affected.
Small appitite is a problem and it has been a struggle to get her to eat right from being a baby. Seems to like very plain food and is a chicken, rice and pasta fan and likes breakfast cereal. Would eat only this given half a chance! Not too bad at eating vegetables but stuggle to get fruit down her other than an occassional banana. Lots of coaxing and persuading and occasional need to spoon feed her till she was 5 to encourage her to eat enough. She is better now and gets a lot of fuss when she finishes her dinner on her own. She is very petite - about the size of a 4-5 year old compared to her 6-7 year old peers. So far growth is slow but continues upwards so we have not had to tube feed her and she has Peadiasure Plus milk twice a day to boost her calorie intake.
She has been put in to a class of younger children at school as she is not as far ahead as she should be. I think the lack of sleep due to itching means she has spent many days feeling rather tired and stuggled to concentrate and take everything on board. This has not been helped by the fact she also has glue ear. Saying all that she is very willing and keen to learn and does her homework and reading with enthusiasm. She just seems to struggle to retain information e.g. cant remember what a word says when she has just read it on the previous page!
When she was smaller she used to make her skin bleed from scratching - ears, face, legs and arms. We have always used Aqueus cream rather than oilatum and her skin is good. Medication has never worked 100%. She has had everything possible in various combinations and the most successful to date is Natrexone, Rifampicin, Alimemazine and Ursodoxycholic acid. Plus Vit K and Vit D. We started this combination last November and it worked till the summer (I was finally able to get a whole nights sleep after 5 years) but gradually the effectiveness is less and she wakes at night again now because of the itching.
I hope this info is helpful to those who are just starting on the journey of living with an allagilles child and happy to answer any questions. My little girl is so loving and despite her problems we feel so lucky to have been blessed with someone who brings so much pleasure and joy to our lives.
My daughter is 4 yrs old and is very sim to urs she was only diagnosed in july took yrs for us to get anyone to listen to us ..
I had exactly the same problem. My son is 17 now, he was born 3 weeks early weighing only 4.5 pounds jaundiced and struggled to eat. Despite the fact I was an only parent (as in no father around) and had no family to support me the hospital sent me home with a very sick baby 4 days later. Then followed 5 years of sheer hell trying to cope on my owm while getting no support from anywhere, especially the local Sussex County Hospital. My son was on the failure to thrive list this whole time, I was treated with seeision and suspicion eeach time I took him to hospital for tests following another day of a high fever and constant virus's because he was clearly not getting enough nutrients in his diet to grow or suppory his immune system. At 6 months old he weights 8 piunds and on his first birthday he was 10 pounds and finally mived from newborn to 0-3 m baby clothes. Yet despite constant hospital visits for tests, the facts of his constant itching poor sleep very poor growth and being so severely underweight at times it was suggested he was malnourished not to mention the fact he was on the failure to thrive list being permanently below the bottom bkye line for weight and growth, not once did any medic suggest a liver function test. It was even quite openly suggested to me that I was an over anxious single mother struggling to cope who couldn't accept there was nothing wrong. I did loads of research and was convinced it was gastrointestinal due to the excessive amount of stinky fattu pale stools which I also told them about. Alongside this when he was 12 months old I retrained as a teacher doing my pgce while also actually working as a teacher in FE, to say this was stressful is an understatement and the lack of concern and support I had from local healthcare was appalling and the fact that my son got no medications or food supplements for the first 5.5 years of his life left his health and growth in severely poor state. I had a breakdown from the stress and was off work for 6 weeks 9 months before he was finally diagnosed because my gp called me in for a chat to check on my mental health and i told him how I had been treated by the consultants at the local children's hospital. He was horrified and said tell me what you want me to do, I will do it. I know you as an extremely intelligent and capable woman and if you think there is an undiagnosed problem then I will support you totally. I asked to be referreed to King's College Hospital because it was the flag ship gastroenterology centre for the region and as a non medic I suspected problems in that area for my son's poor health. I haf no idea at the time it was also the worlds leading hospital for liver disease. My son was born September 1999 in December 2004 I finally went to Kings for a consultation and tests with a consultant gastroenterologist. We met and the first thing he said was I apologise ny colleage is off long term sick I am deputising in this clinic but I am from the liver department! Oh no I said, he then stopped me and reassured me he was very confident that he could help me. After a very brief discussion of my child's symptoms and how he presented on the day the consultant literally took my breath away when he said I am certain I know exactly what is wrong with your son, in fact I had a very good idea the moment you walked into the room! I think he has Alagilles's syndrome which I could guess simply by his facial features and letter from your gp about symptoms. He asked what tests he had at the local hospital, which included everything you could think of including testing for a heart murmur which they had NOT found despite my son constantly complaining of irregular heart beat (in child's language), but not ever a liver function test despite all the symptoms clearly pointing to some form of liver dysfunction! I don't know who was more shocked the consultant or me! He explained to me that a baby born with jaundice who does not put on weight and remains on a failure to thrive list for even a short time should immediately be a red light for liver function tedts and that normally they could pick it up as young as 3 weeks! I was both devastated and relieved all at the same time. We had a very long discussion about how I had been treated by the Royal Sussex County Hospital in my quest to get a diagnosis for my son to enable the correct medical treatment, and he was appalled, but worryingly not completely surprised at what he described as the lack of specialist knowledge and understanding in satellite hospitals, and although it would not be uncommon for regular doctors to know nothing about Alagilles's, they should readily have recognised the signs of poor liver function that were consistently present every day of his life! I have in fact since then explained the syndrome and what it means to so many drs from all different backgrounds when my son has undergone 5 different unrelated operations plus another admittanc e for mental health reasons at 14. I left the hospital that day bewildered and angry at how let down we had been, how poorly my son was and how so much time had hern wasted when he could have been getting treatment. I felt that as an only parent with no family really struggling in the face of such hideous stress I should have received more not less support than regular people with significant others to lean on, instead despite being an intelligent professional I was put down belittled and ignored to the detriment of my son's health due to medical ignorance and bias. King's Hospital immediately found the heart murmur, immature kidney and diagnosed Alagille's with a biopsy a couple of weeks later. To support and reasure me after the devastating experience I had so far they gave me all sorts of contact support and said basically any problems with anything you can't see your gp with just come to us refuse any referrals on any matter to your local hospital. It was such a relief. When I became pregnant with my second child 2.5 years later and I said how worried I was not knowing if I had passed the gene onto my son and I couldn't trace my eldests biological father to ask about family medical history because he abandoned me at 13 weeks pregnant and had been highly abusive and I was frightened of him, Kings were once again amazing, they simply said if you have even the slightest concern over anything when your baby is born call the consultant directly and you will be given an urgent appointment within days! So, firstly I can not praise this world leading hospital enough in the way they have supported us over the years, if anyone is concerned know that you have a right to be referred to the hospital of your choice. My son continued to be very underweight and small for age until he was 15, unsurprisingly seeing how we all grow more in the first 5 years of livr than the rest of our years combined, and this time was wasted for my son with no diagnosis or treatment. I was told at diagnosis as I am sure many are that there was mo predictable prognosis and we had to wait it out, up to 30% need liver transplants eventually, 10-20% improve as they get older and there was no way of predicting which one my child would be. So regular check ups, food and vitamin supplements medications for itching galore many sleepless nights, problems witj hearing leading to 4 operations bullying at school over giant ears, another operation to pin them back and comtinued itching and poor growth and extremely underweight. Then at 14 years old we are asked if he wants to take part in a medical study for a new anti itching medication and this requires alot of further tests. We then are informed that he cannot take part in the test because his lab results are no longer bad enough, in other words his condition has improved, not gone away, but the outlook for the futre is currently good. Obviously we were very happy. The battles since then have been very different I had rigorously controlled his diet and made it super healthy (organic whole grains only, home cooking etc) but a teenager is a teenager, they seem to inhale pizza to survive shun all vegetables and start going to party's and drinking. So now all my battles are about taking responsibility for yourself eating well and really limiting alcohol - this leads to a lot of conflict! Its exhausting. He doesn't look ill, just permanently tired and exceptionally skinny and so he thinks he is invincible. He doesn't regularly take his meds and he drinks alcohol much more frequently than advised. He has sat in a consultation with a King's dr and me and had it drilled into him how dangerous this is. Anyway, other than that his health is quite good, he has continued to get more general illness than anyone else I know and always had a lot of time of school and now college because of it, I put this down to not absorbing enough fat soluble vitamins. But he still got 10 really good g.c.s.e.'s and is mow doing A levels. So take heart, even a late diagnosis can still lead to much improved outcomes for your child im the future! X
This sounds like my childhood. The itching, the skinny statue (still now), the love of breakfast, the jaundice (when i was born), heart murmur (don't have it anymore). With the fruit and veg intake, have you got a blender? You could cram all the vegatbles and fruit you like in there and she might not care.
Itching was always a difficult one when i was young. I even had gloves on to stop me from itching. My parents tried all the medicines. They also tried giving me a soothing oil bath to calming the need for itching. These days, at the age of 32, i still occasionally itch but only when im very very tired.
I have son 13 months with AS he's good with soilds he quiet petit he's starting to walk he's very clevor my main concern is his itching I see dr allister baker every 3 months in dec he's going to try a new medication on my son hope it works my son sleeping pattern are ludacris with his itching he is always scartching his ears and belly the most we are all in the same boat I live in s wales
Hi Susan, I had the pleasure of talking to Allister Baker at the CLDF conference and he mentioned to me about a new medication that will be trailed in about 3 months time - we are seen at Birmingham Childrens Hosp as I live in Leicestershire and I have just called them to find out if my daughter could join the trail there too. Desparate to find something that works longer term - we have taken all the medicines at some point or another - they work for a while and then the itching gets worse again. She is not drawing blood at the moment but is scratching a lot and has wild morning hair!! Nightmare to comb out.
I have son 13 months with AS he's good with soilds he quiet petit he's starting to walk he's very clevor my main concern is his itching I see dr allister baker every 3 months in dec he's going to try a new medication on my son hope it works my son sleeping pattern are ludacris with his itching he is always scartching his ears and belly the most we are all in the same boat I live in s wales
Hello everyone, sorry I've been absent, Will hasn't been sleeping, then I caught a horrid cold and have been exhausted!
So glad more people have joined our conversation, we are a small group, so it's nice to hear of more in the same boat!
Had a good day at the conference, very long day with ALOT of info to take in, some of it I think I would rather not know!
But Will had the best day in the crèche and it was fab to meet up with other parents, see the CLDF team and listen to all the doctors, putting names to faces. Plus it was great to see where all the money goes that is raised for the CLDF and how it helps, I wish I could win the lottery and put all my money into this cause to help our children!
Reuben's mum: I heard you met Rob at the Leeds day, he's a great guy and really nice family, did you enjoy the day? Hope it helped? Hope your doing ok too and keeping positive but getting in your pj's and having a quiet 5mins to yourself is the best, time to clear your mind! And I hope all the new people on here help too
Susu2608: will is 18 months and we live just outside Bristol by cribbs causeway and we will be at the Cardiff day in the new year, be great to meet up if you are going
hi disney mum,yea we had a good time at the bowling and was nice to meet rob.we are currently in leeds hospital again for 2 weeks reubens jaundice levels were up and poor weight gain had scans and blood tests and he is losing salt from his kidneys which can affect weight gain they have gave us some more medication to replace the salts. he is having a hydo scan tues and maybe another liver biopsy thurs so wont no anything till after that date hope all keeping well
hi how is everyone if anyone has any advice on itching that would be great vinny has tried every medicine going nothing works so now we are waiting to be told when he can go on transplant list as he has now had his transplant assesment.
Hi to all the mums above I have a son who is 21 in April and this brings back some memories. Try to stay positive and avoid fatty foods. Home cooked food is definitely the best option. Re scratching try to use an emulsion on their skin for bathing and if they are a baby mits are the best thing!
Hi everyone, I am new to the group and need some reassurance. My baby boy Freddie has been having tests from 4 weeks old and yesterday at 5 and a half months old was diagnosed with Aligille syndrome. I and my husband are broken. Feel like I'm grieving. Freddie is very under weight on infa trini Peptisorb and ready to be weaned. He's also very jaundiced. Which I'm told we will have to just have to get used to as will likely be his usual skin colour. Any reassurance or help will be much accepted. I feel so sad for Freddie x
My son has alagilles syndrome he will be a year old this month I live in MS and i have no idea what im doing i don't know where to take him he was diagnosed when he was a month old in New Orleans...do any of y'all know of a good place to take him or what kind of doctors he should see? He doesn't have enough bile ducts in his liver and he has branched pulmonary Stenosis...I'm only 20 years old and have never dealt with something like this...I'm very out of my ligue and scared for my son...and advice and opinions would be really appreciated...his state of being is very severe but not severe enough for a transplant...I don't know if he should be on a special diet or anything his itch meds don't help him...it's very rough going through this alone....
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