No family history, 2nd child with HD? How did this happen?

My son who is now 15 months old was diagnosed with HD when he was a month old. He had a pull thru when he was 4 months old (did rectal irragations till then), and now is doing great. I just had my baby girl on 9.9.08 by c-section, and she didn’t poop within 24hrs so she was tested for HD, and came back postive. She has already had her pull thru surgery at 3 days old, and is doing good so far besides the diaper rash (which my son didn’t have) They took 8 inches out from my son, and 16 inches out from my baby girl. How did this happen to us? We have no known family HD in our family. We had a 93% chance that she wouldn’t have it, and since we had a boy first our chance went down even more! 1-5,000-6,000 births, who’d we end up with 2? I am just so grateful though that she is doing well know, and a big load has came off my chest. But I am just curious how this could have happened. Does my our my husband have it, but just a small part of our instine is effected, but not enough to interrupt things? Our could this just happen?

We have no family history of HD either and in the beginning I was obsessed with finding out WHY. We asked our GI if my husband could have it too. She said there is no way- HD is usually diagnosed in the first year. Kids wouldn’t thrive in a case of undiagnosed HD.

I went to the John’s Hopkins HD research website and it really helped explain the genetics of HD for me. There are numerous possible reasons why our kids have this. It is one of the most complex diseases to study. Sometimes there are genetic explanations sometimes there aren’t. I’m surprised too since baby number 2 is a girl. I thought you had a less than 1% chance of having a girl with HD if your son was considered “short segment”.

I’d love to hear more about your 15 month old that is doing great. What are you feeding him? Is he on any medicine?

Jo
Mom of Chase 6 months (one stage pull-through at 3 weeks)

Hello,
My 15 month old is doing great. We just keep him on the BRAT diet, no bananas, rice, apples, or toast. We also give 1/2 tsp. of fiber each day with his milk. And if he doesn’t have more then 2 poopies in a day I give him a jar of prune’s or plum juice with added fiber, just to be on the safe side. He also gets lots of fresh fruits and veggies through out the day. He goes on a regular basis 2-4 poopies a day, mainly only 2. We never had a problem with diaper rash with him, but our little girl seems to be starting to get one. We also just give him water to drink, we try to stay away from juices and other stuff. (he also only has one kidney, so this helps with that as well). We have been extremely lucky with our son, I just hope our daughter follows the same path. I hope this helps, just ask if you have any more questions.

I’m so sorry you are having to deal with this again. But at least you know what to look for and are already on the right track with her medical care. For the rash I’d recommend ilex paste and vaseline. Your son was lucky to have skipped the nasty rash that most kids with HD get.

John’s Hopkins is doing research and I think there is still alot to learn. Check their website as they might be releasing some info soon.

My son was a different case of short segment and not diagnosed until he was 4.5 yrs old. I so wish we could have gotten it figured out early in his life but oh well we are making it through.

I have not been to a genetic doc but our surgeon also told us our chances are very low to have another child with HD. We have been trying for a few years with no success…I sometimes wonder if it is God’s way saying to me it might happen again. My husband really is not certain he wants to deal with another child with medical issues so he is kinda on the fence.

I’ll be praying for you.

Janel
mom to:
Isabella(13), & Tyler(5) Hirschsprung’s Disease (dx 1/08,pull-thru 5/08, ostomy closure 6/08), daily bag & cath enemas for bowel managment(9/08)

Thanks for posting about your son’t diet- I am trying to find the right foods for my son. I almost think the formula makes it worse. He saw the pedi today and she also said try to load him up on fruits and veggies. We had been using rice cereal but I’m stopping TODAY! I like the idea of added fiber instead of Miralax or another laxative. We are battling frequent stools- at least 8 per day. What fiber supplement do you use?

Just wanted to secon Janel- Ilex is great for diaper rash when it gets really bad. Sensicare is a wonderful daily treatment. The OTC creams just don’t work for our little ones.

Jo, mom to Chase 6 months (one stage pull-through 3 weeks)> To: kj.warren@hotmail.com> From: hirschsprungs-cpt10398@lists.careplace.com> Subject: Re: [hirschsprungs] No family history, 2nd child with HD? How did this happen?> Date: Fri, 19 Sep 2008 14:24:18 -0400> >

I’m curious to know whether anyone in your family has Waardenburg Syndrome.

Waardenburg may be severe or mild. A person with a mild case might have two different colored eyes or a blond patch of hair in the middle of dark hair. Severe WS may be deafness, cleft palate, or facial abnormalities.

DH and I didn’t initially think we had HD in our family either; however, certain members of my family do have the blond patch of hair in the middle of dark hair and Waardenberg Syndrome has been associated with HD.

I also have a niece born with a mildly imperforated anus which didn’t require surgery. HD and IA are rare but associated.

A few more questions about your son…

Sorry to keep asking so many questions but you are one of the few success stories and I’d love to learn more about what is working for you. What type of surgery and when did you son have it? How many cm/inches did your son have removed? Was his rectum removed? What fiber supplement do you use? What meat if any do you offer? Did your son ever have frequent stooling? Did his stool get better/worse after going off of formula/breastmilk? Did introducing table food help or hurt? I know it is early but have you introduced the potty at all and was it successful?

We took away the rice cereal and added prunes and it seems to have made Chase’s stool much softer. We are still struggling with the frequency but I was encouraged because he seemed to have fewer and larger diapers on Saturday. We typically have 8 or so per day.
Thanks again!

Jo

Brodie had a straight pull-thru when he was 4 months old, we did rectal irrigations until then. He had 9 inches removed, and he does still have his rectum from what I understand (they didn’t say they removed it??) We use Benefiber and he gets 1/2 tsp. a day with his milk. We have offered him all meats besides beef, but that is only because I’m not sure if he is ready for a tough meat yet-as of chewing. Brodie did have frequent stooling after his surgery, and like I said if he didn’t go as much as I thought he should I always just gave him prunes on the safe side. I never used any type of Laxative, I’ve always tried to keep it natural. I didn’t want him to become dependent on laxatives. His stools slowly started to slow down, and now he only goes about 2-4x’s a day. If he only has 2 diapers they are usually a load full. But if he only has 1 diaper I definitely make sure I get him to go at least 1 more time before the day is over. After using formula is when his stools started to slow down. I don’t know if introducing table food helped, but as you can see it hasn’t hurt, but I am very picky on what my child can eat. Especially when he is with his grandparents, or anyone else who feeds him. I try to stay away from table food and only feed him the Gerber Graduates dinners, and lunches. As I am afraid that to much table food may stop him up-but hasn’t yet. I have noticed that when he does have a full day of table food and granny’s him poop starts to form. Right now he still has pastie stool which I was told was just fine, and he could even be potty trained on pastie stool. So I am not worried about that. We haven’t introduced potty training yet, but he knows when he is going, as he’ll go squat down somewhere, or you can tell he is pushing. Not straining, but you can tell he is having a bowel movement. I would think adding the fiber will help him regulate his bowel movements. If you have anymore questions just ask. I know that ever HD baby is different and responds differently to different things, but I do know that we as parents will try anything to make our babies comfortable. And It can’t hurt.

Sounds like you and I are like minded when it comes to caring for our kids. I don’t believe in unnecessarily medicating them either. We finally found the right pediatrician for us and she is anti-medication too. I know there are times he may need it- infection etc. but I don’t want to create a dependency either. She believes we can alter his diet and make a big difference. We are cutting down on the quantity of formula he is drinking and loading him up with fruits and veggies. I make his baby food because I’m obsessed with knowing what is going in and coming out- plus it just seems healthier without all those preservatives. Thank you so much for your detailed response. I really needed to hear a positive story. Chase had 11cm (4.5") removed. I know they removed his rectum but I’m not sure if that was included in the 11cm or not. Thank you again-

Jo

Same here, no family HX as far as we know. My 1st born is 17 yrs old ( I was a teen when I had him) I was so scared to have another baby (Michael was misDx for months and almost died due to rupture - we had 4 yrs and 4 surgeries, but he is great now!) I worried sooo much during my pregnancy even though the odds were great that I would not have another baby w/ HD. They have different fathers so I was hoping that would also help my odds.

I even posted on this board when I was PG trying to find out how many families had more than one child w/ HD.

I was so beyond words devestated when Max started to throw up w/in less than 24 hrs old and still had no BM. When the nurses said, Ohhhh I bet it’s just the formula ( I could not get him to latch in the hospital) I had to explain about hirschsprungs, many of them did not know anything about it. They were great in getting in contact w/ NICU once they realized I knew what I was talking about.

I felt so bad, I felt like I had done this to another baby, I was feeling so down on myself.

Max had a pull through @ 4 wks and seems to be doing great, things have been so much easier than when my 1st son was treated.

for a while I said there was NO way I would have a 3rd child, but now… I wonder maybe… of course I kinda hope it would be a girl so chances of HD would be less, but you just proved me wrong on that.

I think to myself… could I really have a 3rd baby w/ HD, I mean my goodness that has to be super rare! but the genetic people told me I most likely have a 50/50 shot with each child I have, so I guess if we do go for #3 then there would be a great chance of he/she having hd too.

I feel your frustration… My son is now almost 13 months and I have began to think about a second child. I know the percentage is low, but there is a chance it could happen again. I talked to my surgeon about it and he told me that he has seen it go either way and that the genetic testing does not really apply to Hirshcsprungs because they (doctors, scientists) don’t know the cause. I hope your little girl is doing well.