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05/07/2012 11:42 PM

3 1/2 year old about to have the second test

MomWithWorry
Posts: 3
New Member

Hello,

My 3 1/2 year old daughter is FINALLY being tested for HD. She has had issues since about

5 weeks old. Enemas, stool softeners and changing diet didn't help. It takes about 4 days for the enemas to work and

Her stool is still hard as a rock and as large as a baseball.

Her barium enema showed "suspicions" of HD do we are moving on (slowly) to the biopsy and anorectal manametry.

I have a few questions I'm hoping someone can assist with. Thank you in advance!!

1. How long does it take to get the biopsy results?

2. How long between biopsy and surgery?

3. What can I do in the meantime to help her? She cries in pain and goes 9-10 days without a BM.

All med doses have been adjusted over and over again.

Thank you for any information you can give me. Her doctors talk more at me than with me.

It's so much to take in and I'm having a hard time with all of the worry.

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05/08/2012 01:21 AM
rachelco
Posts: 19
New Member

Hi there, my son was aged 8 when he was diagnosed with HD so I know exactly how worrying, frustrating and emotional it can be for all of you. After being diagnosed my son probably waited around 1 month for an appointment to have the biopsy which obviously confirmed HD, we were then having to do bowel washouts at home once a day every day for a about a month - as he was responding so well with the wash outs we were able to cut this down to every other day for the next month. After that every 3-4 days after for another couple of weeks. All in all after about 4 months of bowel washouts we were sent for the barium x-ray which thankfully showed that his bowel had reduced back to normal size. THis was last August. At the moment he is just having two sachets of movicol every day and goes to the toilet every day and his tummy is as flat as its ever been. No constipation at all and he hasn't missed opening his bowels for one day which is fantastic. The stage we are at at the moment is we are due to go back and see his Consultant in July to get him on the waiting list for the operation. The reason for this delay was because we were not sure whether we should put him through the operation due to the fact he is doing so well and no problems with his constipation. In fact he is more healthier and fitter than he has ever been. So we have been told by his consultant that the operation is inevitable so we have an appointment to talk about the surgery in July.

I know its difficult and my god i would rather go through this myself than see what my son has to go through - he is 9 now and plays a lot of football. The fact we have such an experienced Consultant is a great support, I would just keep on at your doctor or consultant.

I would ask your doctor for some movicol - this is just a powder which my son takes in his drink and it works really well. Wishing you all the luck in the world - i will say this group is amazing and there are so many kids/parents going through this - and the support on here is fantastic!

xx


05/08/2012 07:03 AM
MomWithWorry
Posts: 3
New Member

Thank you for your reply! I hate that any child has to go through this! Why do they think the surgery is inevitable if he is responding so well to the movicol? Her doctor put her on 2 tbs of Lactulose daily along with 2 tbs of mineral oil and 12 grams of fiber. Still nothing. Sad

I hope he continues to show signs of improvement and doesn't require surgery. The doctor put off testing for HD because she had passed the Meconium in the first 48 hours. Do you remember how long it took to get the biopsy results?

Was your son on the lower end of the growth chart? Shes 3 1/2, 34 inches and 27 pounds.

I agree. This group is great! So much information - some scary and some awesome.

Thanks again!!


05/08/2012 07:13 AM
rachelco
Posts: 19
New Member

Hiya,

Well this is what we can't get our heads round - why does he have to have the operation if he is going to the toilet every day and is doing/feeling so well? The consultant said that you cannot treat HD with just lacatives - there may be a time (who knows when) whereby the medication doesn't work and he will end up being constipated again and then we would all be back at square one again with him in and out of the hospital - it is so frustrating - my other half is finding it really hard to come to terms with the operation - in the fact that he is doing so well - which puts me in an awkward position because god forbid if there were any complications afterwards i would feel awful - so the length of time it has taken to get him to have the surgery is only down to us not being 100% about it as the consultant needs us all to be in agreement. My son has been an absolute star/inspiration throughout all this - we asked him what he would want to do and gave him complete control of the situation and he said he obviously wouldn't want to have the operation full stop but would rather have it done at this age then when he is older (when he starts senior school etc) - all my family think the same but what if he goes for the operation and therefor suffers with infections/incontinence afterwards which he has never had before? so frustrating and confusing.

With regards to the biopsy i think we had to wait a couple of weeks - and i remember having an appointment with his consultant and being told that the biopsy had confirmed HD - he was so matter a fact about it all - we had never even heard of that condition before.

I remember my son when he was younger (probably aged 2-3) being on lactulose - didn't really help him at all - we were in and out of hospital with him having enemas etc its awful and i do wish this condition was "out there a lot more" as obviously we just got told that he would "grow out of it", "change is diet" etc - it wasn't until he was really poorly 18 months ago (not having a BM for almost 3 weeks) that he got transferred to Birmingham Children's Hospital whereby they had to do his bowel washouts 3 times a day because he was so compacted with stool.

With regards to his growth - it was never an issue - he grew just as a "normal" healthy child would - he has never suffered with any issues with his height or his weight, which makes it even more frustrating because everything was "normal" to him/us apart from him not going to the toilet!

The thing I have noticed that on reading stories on this site and also on Facebook there is a group for HD - every child is different and every HD story is different. I am just hoping and praying that my son's story will be one of the success stories after his operation - i have hope there are lots of them out there - its just people don't write about them.

If you need anything else please do not hesitate to contact me. xxx


05/08/2012 07:38 AM
MomWithWorry
Posts: 3
New Member

That's the issue I'm having - we just don't want to see her go through anything she doesn't need to. We brought her for a second opinion and she they said the biopsy was the best way to go. Which I already knew but had to do the mom thing and hope and pray someone told me something else. I have been asking for them to test her since she was about a year old. "She's just holding it" is what I heard for the two years after that. I went to GIs and Endocrinologists and Immunologists and it was always the same thing - meds, meds and more meds. I just KNEW something wasn't right with her so I found a pediatrician that listened and they agreed with me and started the process again.

Luckily, we haven't had to be in and out of the hospital for this. Our doctors believe heavily in enemas and washouts. She's been in for sicknesses they can't diagnose...

I know it must be killing you to have to make the decision - the what if's are enough to drive you mad. But you are his mother and you will ultimately make the right decision not matter what you decide. Thank you for the support. It means so much.


05/08/2012 07:42 AM
rachelco
Posts: 19
New Member

Any time you want to even just rant then please give me a shout. I must admit the bowel washouts were amazing and when we were told after leaving hospital we had to do them at home i was soooo scared but my son just took it all in his stride - in fact my partner was so much better at doing them that my son used to ask for "daddy" to do them!

You are so right - as a mum you kind of do go with your gut instinct and as you say you just knew something wasn't right. The good thing is that she will go for her biopsy to confirm either way what it is and hopefully treat her with all possibilities so she is no longer in any pain going to the toilet.

Big hugs for you and your family.

Keep in touch - and let me know how things go. xx


08/08/2012 01:55 AM
rachelco
Posts: 19
New Member

Momwithworry,

How are you doing? How is your little one?

We have been to see Ethan's consultant and he is now on the waiting list for his pull through procedure - unsure as to when it will be or how long the waiting list is. We are all very nervous but I do believe it is the right path for us to go down - even though he is still doing really really well in opening his bowels every day and going to the toilet without any other assistance other than his 2 satchets of movicol. We really just want to get this out of the way and hopefully after surgery he will be just fine and dandy and we can move on with our lives and book ourselves a nice holiday - i am of course worried - but i remain positive as Ethan has been an absolute inspiration to us all - All kids with HD have to go through so much and as parents you wish you could trade places with them - but I feel positive that everything is going to be just fine - you have to be positive.

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