New Diagnosis for 6 year old son

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1

Hello,
My son (Gavin) was just diagnosed with UC/AIH/PCS. As you can imagine my wife and I were floored by this diagnosis. Below is a little background and some questions. Thank you in advance to anyone who replies. As you can imagine we are devastated and looking for any help or advice out there.

Background:
Gavin started showing a sign of UC in December. He was at an event for school and was running around with his buddies when he ended up having an accident in his pants. The accident had a little blood it in so we got him to his pediatrician right away. There was a shocking diagnosis of C-Diff, but antibiotics cleared that up and the blood went away. Fast forward to February and for some reason I asked him if when he went to the bathroom there was blood in his poop and I was surprised to hear yes. This was a regular question in December until the blood cleared, but I had not asked in a while. More follow ups with his pediatrician led us to reach out to the best GI doctors in our area (Lurieā€™s Childrenā€™s in Chicago). Met with GI doctor and scheduled a endo/colonoscopy and also ran blood work.

We were coming to terms with the fact that our son probably had UC and then we got the call that his bloodwork was off and were told that we were also now being referred to hepatologist. The hepatologist wanted an ultrasound and a liver biopsy. They did the biopsy while he was under for the colonoscopy.

Last Thursday was the day for both and we got the diagnosis of an early stage UC to be treated with 5-ASAā€™s. Then this Tuesday the bomb came that the biopsy also showed signs of AIH/PSC. We donā€™t have the stage yet as we have not had our follow up with the Hep doctor. That will take place this coming Tuesday. In the meantime Gavin has been started on Prednisolone, Cellcept, & Ursodiol.

Gavinā€™s UC symptoms are mild. Just the blood in the stool, no pain, no discomfort. At this point he is asymptomatic for the AIH\PSC. It is so hard to look at my son who seems completely healthy and know what he has in front of him. The poor kidā€™s life will never be the same and he is only 6! When I reviewed his blood work I knew in the back of my mind he had PSC and I knew that AIH was a possibility too so I have been researching this site for a few weeks now. So here are my questions:

I have already reached to Dr. Cox but I read in some places on this forum that he was not with Stanford anymore. The email I used for him is a Stanford address. Can someone who has worked with him recently please private message me and let me know if the contact info I used is correct. Or would I be better off getting in touch with Dr. Davies? Should I be calling somewhere instead? If so does anyone have a number? How long did they take to reply to email to anyone who has gone that route?

I have messaged my hep doctor and brought up Vancomycin and Iā€™ll see how she responds. I will hear what she has to say about her current treatment plan but I want to bring the vanco studies to her attention and I will be fighting to try it if it is an option for my son.

For those who have used Vanco long term have there been side effects? Has it lost its ability to maintain good enzyme levels after taking it for a while? Has anyone who also has AIH not been able to use Vanco for any reason?

Is anyone on Ursodiol, Cellcept, or Prednisolone? Have any of these drugs kept you or your child stable or even improved liver enzyme numbers? I donā€™t have a lot of hope for them from what Iā€™ve read. I also understand that some of these are for the AIH and not the PSC. I will find out exactly what my hep doctor is using for what and what her hopes are.

Basically if you have any other advice or guidance at this time I will take it! I am crushed, terrified, confused, depressed. Honestly I am so many things right now I canā€™t decide. I guess the word that keeps coming to mind right now is frozen. Since I got the call 2 days ago I am just frozen.

Thank you so much for reading. I look forward to any and all replies.

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Hi there - we went thru a similar process less than a year ago. I would be happy to talk with you on the phone. I have learned so much in 8 months but know exactly where you are mentally. I will try to PM you but please feel free to share your email or mobile and we can connect further.

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I can only speak from being on Urso myself, which seems to have improved my liver scores consistently. I think most PSC patients are on it. If theyā€™ve suggested prednisolone would be effective, this is hopeful because it has been documented as being able to control the course of the disease. Classic PSC in itself is essentially untreatable, however there are other variants of the disease that do respond to steroid treatment.

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Thanks so much for taking the time to reply James. Does anyone know if because my son has both AIH/PSC that is actually a different disease category than just PSC?

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TMW82,
Welcome to our little family. Iā€™m sorry you had to join us but now that you have I want to assure you that you have friends here and that you have come to the right place. We all know the fear that comes when one receives a diagnosis of PSC, but I want to assure you today, that there is hope and there is help. The best thing right now is to continue to educate yourself all you can about the disease. Make sure your son is under the care of a top knotch hepatologist associated with a transplant center. Usually PSC in young people will go slow, so hopefully it will be many years before he has severe complications. One of the best pieces of advice I can give you at this stage, is that you allow your son to be a boy, to act like a boy, run like a boy, do all those things boys does and not be afraid he will break. Yes, he has a disease called PSC. It will let him know when he needs to stop and rest, when he is really feeling poorly and intervention may be needed by the hepatologist. But he doesnā€™t need to live in fear that anything bad is going to happen to him. It will be up to all of you in the family to treat him as any other normal 6 year old.
Keep in mind that when someone gets PSC, you have a perfectly healthy liver and the disease attacks the bile ducts of the liver. They cause those ducts to bead and clog and that slows the flow of bile out of the liver down tremendously as the disease progresses. The effect of the slowing down of the bile is the killing of healthy cells in his liver. And yes, in time cirrhosis develops leading eventually to a transplant. I know thatā€™s a lot to absorb, but remember, every patient progresses differently so thereā€™s no set way to deal with his disease. Donā€™t get all freaked out and put him on a wacky diet that makes him dread to eat every day. Treat him normally, over time he will know what foods make him sick and what foods taste and process good. You asked about Ursodiol, it is a very good medication that will help thin the bile to allow it to flow better around the damaged places in his bile ducts. I was on it the entire time I had PSC. I was on Cellcept after transplant and my ilium was damaged so they switched me to an extended release form of the same drug called MyFortic. There again, every patient will react different and his doctors will be looking for any problems. Itā€™s normal to have to have a colonoscopy from time to time.
We are here for you and as one other has stated, if you need a phone call sometime Iā€™m more than glad to speak with you as well. Just private message. One thing about sharing your email on the forum, even in a private message, the system is designed to strip email addresses out. One work around that would be to do something like this. johndoe(at)gmail.com. You are substituting the @ symbol with (at). But I wouldnā€™t share the email address publicly, just in private message. Take care.

Mark
PSC 2011 / Liver Transplant 2015

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Thank you so much for the kind words Mark and the advice. I need all I can get right now. This has been such a tough time. One good thing about Gavin being diagnosed at 6 is that I can still keep a lot from him. He knows something is wrong with his liver and his colon and he knows he has to take medicine to keep him healthy. Other than that Iā€™m committed to letting him live life to the fullest every day!

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Hi! I was where you are just one year ago with my 12 year old son. He had a bit more symptoms at the point of diagnosis, stomach pain and fatigue. He said he felt like 70 percent of himself.
He went through the exact same procedures as your son and then got the diagnosis of UC and aih/psc. He started on prednisolon, imurel, and Asacol. (we live in northern Europe, so probably a bit different names od the medication)
I was devastated.
After 6 weeks the liver tests were not down. We started gluten free and dairy free diet, and prebiotics an chicken stock.
Within three more weeks the blood work improved.

This week we went to a one year check up at the one hospital in the country who do liver transplants.
The damage on his small bile ducts visible on ultrasound last year are not visible any more.
All his blood work has been within normal range since last June. He is in great shape, doing three different sports and getting great grades in all subjects at school. He is out with friends. No signs of UC since last April.
The doctor is going to let him cut back on the medication.
So we are in a very happy place.

The doctor says the following: they are doing so much research. Psc and aih in children may be a completely different disease than PSC in adults. I think he called it AIC or something. (waiting for a letter from the hospital with details) it also most likely is a disease much slower and not as invasive to the liver as the Psc. HE responds to prednisone treatment and now he is in remission. He might be able to go without medication, but they donā€™t want to risk it now when he is growing, as it might trigger a new need for high dose prednisolon.

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I canā€™t stress enough the need for your son to start on oral vancomycin (ANI brand). It is a GAME changer. Glad you brought it up with his doctor, but Iā€™ll warn you, becasue there is little known about it, many doctors will erroneously tell you its too early or your son can build a resistance to IV vancomycin (it wonā€™t). Get a hold of Dr. Davies for sure (or Dr. Cox) and learn everything you can. There are plenty of articles including the classic, ā€œThe Case of the Disapperaing Liver Diseaseā€ by Dr. Cox over 20 years ago. If anything, beg and plead for his current doctor to at least try Vanco for 3 months.If you are willing to travel, try Dr. Mounif El-Youssef Mayo Rochester, or possibly Dr. Alex Miethke Cincinnati Childrenā€™s. In short, my daughter was diagnosed stage 3 (of 4) with her liver horribly damaged and transitioning to cirrhosis. Three specialists said no hope. Finally found a doctor who would prescribe vanco and within 5 weeks, all her skyrocketed numbers normalized, and in 6 more months, her liver healed completely. No other drug will come close to allowing the body to heal itself. Perhaps lower LFTs etc but not allow for repair. It also is a miracle for UC. I have lived in the horrible world of PSC and thanks to vanco, my goal is to spread the word so that other parents have a chance to escape as well. Good luck and feel free to reach out if you have questions.

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Both Annie and Joki thank you so much for your replies.

I will be bringing up Vanco with my hep doctor. As you can see I already have. I have been reading this site for a while when I first suspected PSC and Joki one of your previous posts on Vanco is what started my research down that road. If you would not mind please PM the contact info to the doctors you mentioned. I will reach out to anyone and travel anywhere.

Annie, your post gives me hope that maybe my sonā€™s disease is more of a crossover like you mentioned and the steroid treatment will help.

I do want to hear my hep doctorā€™s plan before moving forward with anything but I am going to arm myself with as much knowledge as possible. They have a great GI/Hep team at Lurieā€™s so that reassures me a little that they know what they are doing. I mean I have heard so many misdiagnosis and delayed diagnosis stories from other places that I am reassured I have my son in the right place for his care. I mean we had a diagnosis in under a month from our first visit and that was really just waiting for the OR for the colonoscopy. That does not mean I wonā€™t question them though and get other opinions.

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TMW82,

I hear you.

There will be much smarter people in this group to answer your questions, but I want to take issue with one thing you said, ā€œThe poor kidā€™s life will never be the sameā€¦ā€ This doesnā€™t have to be the case. PSC does not define his life.

When I was your sonā€™s age (currently 36) I sustained a concussion and a kick to the stomach in an intense game of tag, we took tag very seriously. When i went to the hospital they ran blood tests which returned elevated liver enzymes, which at the time were attributed to being kicked in the stomach - well of course over time it has been agreed that these elevated enzymes were really PSC. I went a decade without thinking about that blood test or without having any issues. It wasnā€™t until i was 16 when i had an episode with UC, diagnosed at the time, that I had to enter the medical system again. And even then it was a quick few days in hospital and I was back at life.

I am not going to pretend that I didnā€™t have issues in my early 20s, but those were UC related, not PSC. It was only in my 30ā€™s that PSC started to cause issues.

But there was no Dr. Cox, Urso or Vanco when i was 6. And to this day i have never tried any of that trifecta that will be available to your son.

I have lived a tremendous life and continue to do so. Did almost every stupid thing you can think of as a teen. Iā€™ve always worked incredibly hard. Have a great career. Married my high school sweetheart. I am a father to two beautiful children (5 and 3).

I am proud of never making a single, not a single, decision based on a ā€˜what ifā€™ or on a ā€˜but I am sickā€™. I still live by this today.

As a father I can try to begin to understand the mental and emotional pain you are going through right now. But as that 6 year old boy I wouldnā€™t trade away intense games of tag; as a 16 year old I wouldnā€™t trade away getting drunk like an idiot in the neighborhood park; as a 20 year old i wouldnā€™t trade away my summer in Europe with my future wife; as a 27 year old I wouldnā€™t trade away working long hours to build a career; and I certainly would never trade away the decision to start a family.

Iā€™ve been listed for transplant for 5 months now. I told my wife 5 months ago. Mine isnā€™t a story of tragedy - itā€™s a story of triumph. This may be the best chapter in the book of my life, a book that isnā€™t even close to done yet.

My unsolicited advice to you is to continue to let your son be that kid chasing his buddies at school events and donā€™t let this BE the topic of your sonā€™s book, merely a triumphant chapter.

E

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TMW82,
I am so sorry for your sonā€™s diagnoses. We were in a similar situation almost a year ago with our 8 yr. old child. I know where you are emotionally as I went
through something similar, and I am still going through. This site has been more helpful than anything the doctors can provide. Our child sees doctors at Boston Childrenā€™s Hospital which is supposed to be one of the best in the country, however, I donā€™t feel I get a lot of information from them. The vanco has helped, I think. No side effects. Added benefit, though, that it helped the UC. Our child is also on Urso and Pentasa. As someone else mentioned, I have heard from multiple people that cutting out gluten and dairy and/or going to plant based diet has put the PSC in remission. The talk of prebiotic here is interesting - thanks, Annie. Our child struggles with fatigue, and I worry that is something we canā€™t help her with and I feel it may impact her everyday life. Please feel free to PM me. Thinking of Gavin.

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Eric,
Thank you for that wonderful testimony of how you took an illness like PSC and didnā€™t let it stop you from having a wonderful fulfilling life. Iā€™m sure this will be an encouragement to many.

Mark

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Thank you for taking the time to write such a detailed reply, Eric. Your story gives me so much hope for my son.

My plan for my son, and Iā€™ve already started on this plan is to let him know he has some medical issues and his medicineā€™s are a must! Other than we wonā€™t be restricting his life at all at this point, well maybe not getting drunk in the park. :wink:

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Thank you for the kind words mcdona! We are already on Urso and asking about Vanco at our next appointment. I guess we need to see where heā€™s at as far as staging to see how aggressive we need to be with treatment. We wont know that for a little bit still. We will also be asking to see a nutritionist. I believe Lurieā€™s Chicago has one on the GI/Hep staff.

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I understand from your writing your son is in very good hands.

I want to add a tip. If you, after talking to doctors, decide to try gluten free, I really urge you to not buy gluten free food, but stick to naturally gluten free alternatives. I believe those products will do more harm to the UC and the liver because of leakage through the colon.

As to the prebiotics, I have learned that they may be more effective and more harmless to the system than probiotics.

My son had another soccertraining today, three days in a row now, and is wonderfully exhausted in a good way. I am looking forward to whne you get to the point when this is just a small part of your lives, and not what you keep thinking about 24/7. Youā€™ll get there!

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Thank you so much for the kind words and advice Annie! When we meet with our Hep doctor we will be bringing up nutrition to see what role she thinks it might play. I know others have said it does not matter, but IMO how could it not. Your system has to do so much more to break down a cheeseburger then it does to break down something natural. If gluten could be an issue why not try gluten free. If dairy could be an issue why not try cutting that out. I am open to anything. I am so happy for you that your son is now doing well. And being that he is diagnosed with the same issue as my son it gives me hope. My son at 6 also loves soccer and plays year round on a travel team in our area. My hope is that he never has to stop playing. Have a great weekend!

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@tmw82,

My son turned 6 last month and he was incorrectly diagnosed with wilsonā€™s + potential aih last summer after liver biopsy. Couple of months ago got the correct diagnosis of early stages of psc/aih/uc and ruled out wilsons. He is asymptomatic for UC, only confirmed with biopsy. Past few months we are on urso/aza/prednisone and lft are coming down significantly around 100 range now from high 600-900 range but not normal yet. But we have made the decision to move to Vancomycin and working with Dr.Davies. Hopefully, our insurance will approve this, according to Dr.Davies she had no trouble for all her patients so far. If your doc is not keen towards Vanco then you should certainly reach out to Dr.Davies. Our GI/hep was initially open but doesnā€™t want us go to Vanco now unless his conditions get worse. Sounds counter-intuitive but thatā€™s the reality.

I am sure you might have picked this up already, there are over 30,000 psc patients in US alone and most of them are on urso. Itā€™s a good medicine to get bile flowing smoothly out of the liver and bring the lft down to normal. Note that urso has no effect with the clinical outcomes i.e people will eventually progress towards liver failure. It could be 3 years, 10 years, 15 years or 25+ years. And everyone progresses differently.

People who made the shift to Vanco, swear this is the best available option until something better comes along. And people who adopted Vanco early hasnā€™t progressed towards liver failure but the dataset is small comparatively and gives a lot of hope as they continue to live life as normal. Dr.Cox has so far treated 100-150+ patients in 25 years and Dr.Davies has 35-50+ patients. We are local to Dr.Cox and reached out in multiple ways but unsuccessful. He is semi-retired, not taking on new patients and only helping out existing patients. One of the parent and a member here made a personal recommendation to Dr.Cox but we havenā€™t heard from him.

Dr.Davies will treat with Vanco alone and no other medications. The one difference is Dr.Davies doesnā€™t recommend to cut down the dosage ever while Dr.Cox does carefully and eventually.

Regarding food, we believe it does have an important role to play and made few adjustments. Doctors will say food has no role and eat everything in moderation. Hope this helps.

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Sorry to hear about your sonā€™s diagnosis. My then 13 year old was diagnosed 2 years ago. I understand that disbelief. I still feel it sometimes when I look at my boy. Yet he goes to school (where he does really well), plays/trains his favourite sport 5 times a week and has a part time job. Most people have no idea that there is anything ā€œwrongā€ with him, and thatā€™s the way he likes it!

I am not in the US, but emailed Dr Cox in the last month (with address from one of the chats on here). I had a response in 2 days.

Good luck on your journey.

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Thank you again for the kind words and the tips Annie. As I have said before I am willing to look into everything. Any medicine, doctor, or diet. While I may not use them all I want to have as much information as possible to help my son through this.

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Thank you so much for the response! You have helped to give me hope for my son.