Infantite Polycystic kidney disease at 25 weeks

[StarBright25]

:sad: Unfortunately i went for my routine 20 week scan and they thought the kidneys were enlarge but otherwise healthy, tho they were concerned so referred me to a professor. again he felt the same but to got back at 25 weeks scan to check on there progress.

unfortunatley when returning at 25weeks the kidneys had again enlarged and now also the fluid around our son had reduced, again she referred me back to the professor, he confirm it was definately IPKD and that the fluid had again reduced even further within the 2 days between the 2 appointments.

We are now left knowing there is going to be kidney failure and now possible lung problems on delivery, we are now left with the very difficult decision....

do we.... carry on with the pregancy knowing his life will start in constant hospital care or end his misery now??

i really dont know which way to turn.... please contact me if u too are going through this or been through it.

Many Thanks, its a very difficult situation. . . . x

 

[StarBright25]

Is there no else in the same boat?? i feel so alone and just want to talk to someone in the same situation. . . . please :crying:

 

[Jox]

ive just replied to your thread in ethical losses i know there is a mum who has experience of a very similar condition. I have sent her a msg to see if shes able to get on to msg you xxx

 

[mrsloumck]

I have been there....except we didnt know until after baby was born she lived for just 7hrs she would have been 9 now our first. I would say to you that i myself would stll have went through with the pregnancy at least you get some time with your baby which is better than none. We took loads of pics of our daughter with all the family ( tryin to get a lifetime of pics in a few hours). None of it was easy but i wouldnt trade the time i had with her for anything. This disease is genetic 1 in 4 we have had 3 children since ages 7,3 and 3mths the older 2 have no kidney problems but the baby has an enlarged left kidney so we are currently waiting on more tests to be done on her.

This probably didnt help you but i hope things go better for you

 

[purplerat]

hey there,

My son has Autosominal Recessive Polycystic kidney disease (ARPKD) which I think is a very similar, if not the same condition. We found out at our 23 week scan that he had enlarged kidneys with cysts on them and were monitored closely throughout pregnancy. I ended up having a lot of extra amniotic fluid, though a lot of babies have too little. Having too much was better as it allowed his lungs to grow and develop. Throughout pregnancy we were left wondering what his life would be like.

However he was born weighing a very healthy 9lb 6 oz 2 weeks early. His kidneys are about 50% bigger than average and are very solid and noticeable. He is in quite a bit of medication and we visit hospital at least once every 2 months, and soon he will need a kidney transplant as the kidneys are starting to fail. But he is a very happy 1 year old little boy and you wouldn't know anything was wrong without seeing his tummy.

Sadly, I know of woman who have had the condition in pregnancy who do not have such a happy ending. I have got used to constant hospital visits and I couldn't imagine life without them.

If you want to chat at all just PM me I hope things improve x

 

[mamabearjen]

hello I found out at my 18 week scan the baby had no kidneys & no bladder (potters syndrome) It is a very hard decision to make I know..my huband & I didnt agree at first on what to do & i had to do a lot of research to come to a decision. I will tell you only you can decide. I decided to carry my little one to full term or until its little heart stops. Although it is hard sometimes knowing once its born it wont live but minutes or an hour I'm enjoying the pregnancy & will cherish every second/minute or hour I have.

 

[kujunchild]

hello. We have just suffered the loss of our son in the last week and we think due to IPKD. He survived for 20 mins and then died, due to his lungs not being fully developed. However his kidneys were massive and they gave him the worst prognosis outcome. Unfortunately my 20 week scan (done at 19 week 1 day) only showed slightly enlarged kidneys and they never referred me for any further scans in my whole pregnancy. I feel terrible knowing my son could have suffered inside of me, but I was oblivious to anything being wrong. I only know that I loved him with all my heart and miss him terribly now, but at least I got to meet him and hold him for a brief time. My labour was very painful due to no amniotic fluid, but I managed a vaginal birth in the end, which I am proud of and DH is too. If anyone wants to talk about this let me know. We all feel so alone in a time like this and there are so many unanswered questions, yet life must go on. We are awaiting results of autopsy and are keen to TTC again even though we think the odds will be 25% chance of having the recessive gene passed on, but with amniocentis we are prepared. Love to all and hope to hear from someone who is suffering same.

 

[evasmum]

hello. We have just suffered the loss of our son in the last week and we think due to IPKD. He survived for 20 mins and then died, due to his lungs not being fully developed. However his kidneys were massive and they gave him the worst prognosis outcome. Unfortunately my 20 week scan (done at 19 week 1 day) only showed slightly enlarged kidneys and they never referred me for any further scans in my whole pregnancy. I feel terrible knowing my son could have suffered inside of me, but I was oblivious to anything being wrong. I only know that I loved him with all my heart and miss him terribly now, but at least I got to meet him and hold him for a brief time. My labour was very painful due to no amniotic fluid, but I managed a vaginal birth in the end, which I am proud of and DH is too. If anyone wants to talk about this let me know. We all feel so alone in a time like this and there are so many unanswered questions, yet life must go on. We are awaiting results of autopsy and are keen to TTC again even though we think the odds will be 25% chance of having the recessive gene passed on, but with amniocentis we are prepared. Love to all and hope to hear from someone who is suffering same.

Hi, sending you lots of

My daughter also died from ARPKD (also known as infantile pkd), it was devestating, we did not know she had the condition as we had no signs on the last scan I had at 20 weeks.

Please pm me if you would like to talk or ask any questions. I hope you don't mind me saying that I am 17 weeks pregnant after going through the genetics process.

 

[evasmum]

Also wanted to add that there is a very good and supportive loss support board on this forum

 

[kujunchild]

Also wanted to add that there is a very good and supportive loss support board on this forum

Thanks Evasmum. I can't PM until I've done five posts as I'm only new here so have to ask a few questions first. I have so many questions. Thanks for the message though. Did you have lack of amniotic fluid also?

Have you already had tests on your current pregnancy? How did they go? Also, I'm in Australia. Where are you?

Thanks,
.

 

[evasmum]

I just tried to pm you too but it doesn't let me either!

I am in Scotland, although I have met other girls from all over the world who have lost precious children to ARPKD, it helps to speak to people who have been through similar.

I had a 'textbook' pregnancy with Eva, although lots of people commented on my small bump including my midwife (she was 8lb 8oz so not a 'small' baby). I went into natural labour 5 days past my due date, I had a labour with only gas and air and got to fully dialated but I pushed for 2.5 hours and she did not descend.

I was in the birth pool for most of my labour and I asked the midwife if my waters had gone and she examined me and said she could feel baby's head so they must have gone in the pool, I now know there must have been no fluid.

After pushing for 2.5 hours they took me to theatre, gave me a spinal block and attempted forceps but decided she was stuck ( most likely due to her kidneys) and gave me an emergency section.

She arrived and although there were three little cries she was described as floppy and pale so they took her to the neonatal unit. She lived for a day and died suddenly after developing a second pneumothorax. It was her severly underdeveloped lungs that she died from.

It is so so hard, she is my first child.

The genetics process was done through Cardiff Genetics in Wales - strangely a girl I spoke to on the net from Australia was going through there too, I know another girl in Holland who goes through there too.

They first of all take the DNA sample from your child (as long as you had a post mortem) and find the 2 mutations (faulty genes) in your baby, one of these is from each parent. They then told us that we would be able to test by cvs or amnio. To give you an idea of timescales, our first appointment was with the geneticist at the end of March and the confirmation was at the beginning of October.

We fell pregnant and tested by cvs on 21 March and thankfully we have been told our daughter is a carrier (like me and her Dad) but not affected. The results took about 10 days.

Am happy to answer any more questions you have, I can give you my email address when I can pm you.

I hope you are taking care of yourself, it is all such a hard thing to cope with

 

[kujunchild]

Hi. Sorry for the late reply. I was confused and didn't realise there were two pages on here. Also have just been away for a few days to say goodbye. Very hard times. Did you mean that this genetic testing process for you and your partner took 6 months? Or did you have an appointmnet with the geneticist after falling pregnant? That's a really long time to wait and I hope I dont have to wait that long. We are still waiting for results from the autopsy which will prob be another month or so.
Our boy was 7 pounds 6 and I also got comments on how small I looked, but I am tall (5"10) so I figured baby had heaps more room to move in there and plus he always measured perfect for my dates etc. Everything normal there and it was my first pregnancy so I had no idea that anything could have been wrong. Our boy was born 13 days overdue but he came of his own accord which I am thankful for. I didn't want to be induced and that's why I got the scan on his heart and ultrasound to check everything was fine, which was when they picked up he had huge kidneys and me no amnio fluid. It's a huge shock and then I had to go through with the birth after that (4 days after finding out initially our boy wasn't going to live). I had a hard time at the birth, very painful and took the morphine whilst in the bath and that wore off in a hurry (about an hour and a half later) and then I was having contractions on top of eachother so ordered the epidural which I was thankful for. Then another 3 hours later I needed the oxytoxic to progress me to 9cm (was stuck at 6 for 3 hours) and then I progressed and pushed for about an hour and he was finally born after episiotomy. He lived for 20 mins but never cried and was silent and I heard a few little gasps but no struggling. We chose to let nature take her course as we were given the worst possible outcome and we didn't want a life of suffering with tubes etc. or any heroic efforts. He died in my arms and he was so beautiful. Perfect. No abnormalities on the outside but obviously his lungs had never matured. Poor little soul.
Right now I can't think of the questions I was going to ask you. We just have to wait for results and take it from there.

 

[evasmum]

Oh hunnie, your son sounds beautiful and I'm so sad to hear of another tragic death to this horrible illness. It's jus so sad that it doesn't present until so late and it is so awful, our little ones were truly fighters. I really understand your pain and shock. There is a loss board on this forum, if your not ready to post there don't but just know that there are lots of supportive women there.

Sorry for not replying sooner, I forgot to check the thread!

Eva would be 17 months old now and I am 18 weeks pregnant. The genetics process is long unfortunately, it is a complex process but each step is a huge milestone and you will get through it. Everyones genetic process takes a different time depending on how complex the testing is, ours seemed to take forever. I wasn't prepared to fall pregnant again until I knew 100% I could test, it is possible to monitor a pregnancy with ultrasound but as you know the condition presents late so it can be very far on before you know.

There is also an option of ivf with

 

[evasmum]

Stupid phone! I accidentally pressed post and can't go back to edit!

Was saying.... you can do ivf with pgd but you need the genetics dine first for this too.

I know this is a lot of info and I'm happy to answer any questions I can but put yourself and your Partner first right now, saying goodbye to your precious child is hell and I'm sorry you have had to.

Sending my love

 

[kujunchild]

I think I had read your previous post wrong. So all they need is the DNA and to successfully find the faulty genes in our baby, that's if they can find them or we need further testing of each of the parents. I think that's right. I've read of a case where it's only taken 2 months. I guess it all depends, like you said. I'm 39 next month and I fell preg naturally last time so I'm keen to do it again. It's supposed to be easier to conceive the second time around. I hope there's not too much of a delay before we can try. I know I'm still grieving, it just seems at this point that searching and reading info about the disease means I can pass the time, even though I feel in limbo until results of autopsy come out. Our empty arms is all we want to fill again, and to have another bub in honour of our first son.
Will you be having any more tests throughout this pregnancy? Was the CVS a good experience for you?

 

[kujunchild]

Also wanted to say thank you for your reply. Now I think you might be able to pm me that I've done my five posts.
another question - did you and your partner need to have genetic testing done or was it only done on the DNA sample from your beautiful baby?
Thanks so much and much love back to you.
xxxx

 

[Rockell8788]

 

[dotnes]

If anyone wants to talk about this let me know. We all feel so alone in a time like this and there are so many unanswered questions, yet life must go on. We are awaiting results of autopsy and are keen to TTC again even though we think the odds will be 25% chance of having the recessive gene passed on, but with amniocentis we are prepared. Love to all and hope to hear from someone who is suffering same.[/QUOTE]

Hi there, I'm new to this site, also trying to find someone who has been through the same thing. I'm sorry for your loss. I saw this happened to you in May. It's devestating, it really is.

I was advised to go into labor last week, after terminating due to IPKD. We had a 16 week scan as the same thing happened in our previous pregnancy. His poor little kidneys were enormous, as we saw in the scan and after I gave birth. Practically bigger than his head.

He'll currently be having a post morterm so we can try and get to the bottom of this. If anyone is out there who's going through the same thing, please mail back when you can.

 

[kujunchild]

Hi there, I'm new to this site, also trying to find someone who has been through the same thing. I'm sorry for your loss. I saw this happened to you in May. It's devestating, it really is.

I was advised to go into labor last week, after terminating due to IPKD. We had a 16 week scan as the same thing happened in our previous pregnancy. His poor little kidneys were enormous, as we saw in the scan and after I gave birth. Practically bigger than his head.

He'll currently be having a post morterm so we can try and get to the bottom of this. If anyone is out there who's going through the same thing, please mail back when you can.

Hi Dotnes. I'm so sorry to hear of your loss. It's really sad that yet another baby has been subject to this terrible disease. We are a small way on in our journey.Iit's only been 5 weeks, but already we have had appointment with geneticists and organised testing on our boy's DNA to hopefully find the responsible gene mutation so we can test in future pregnancies. In the meantime I am emotionally and physically healing and looking forward to TTC in the next couple of months. Our post mortem results showed definite ARPKD, but we are both getting renal ultrasounds done to rule out the adult (dominant gene) form of the disease ADPKD. This is really only a matter of course because we were told the disease was the severe form which means ARPKD.
Each day is a struggle and some days are better than others. What's everyone's view on TTC after a loss? How many months would you wait for the physical healing of your body? I am 39 soon so want to start soon as time's not on my side.

 

[dotnes]

Good to hear back from you kujunchild.

At least you've had some answers now which must be a relief. We're going through exactly the same thing. Our little one is off for tests. I've already had my kidneys scanned, they're fine. My partner is next.

I gave birth a week ago

I'm glad they gave you some answers quite quickly. I hope it's the same for us.

As far as TTC again....as soon as you feel ready. I'm going to let my body have have 1 or two periods, hopefully get our results and start trying again asap. As long as you feel healthy, ready, and that your body and heart have recovered since your loss.

Please keep in touch. Good luck with everything xxx