Birth defects

[Buckley123]

Hi all I know miscarriages are well known in aps, which I Have not had however my son was born with a hand defect (missing fingers small arm in fact carries on down the whole left side slightly) never ever had a explanation he also has hurshsprungs.

The only thing that has been mentioned is a interruption of blood flow whilst pregnant.

Just seeing if this could be a piece to my puzzle.

Thanks in advance

Jade x

[lupus-support1 Administrator]

I am very sorry to read about your son, Jade.

Hirschsprung's disease is a condition that affects the large intestine (colon) and causes problems with passing stool. The condition is present at birth (congenital) as a result of missing nerve cells in the muscles of the baby's colon.

Perhaps you should discuss this with a doctor specialist in genetic disorders.

Wishing your son to be as healthy and happy as possible.

With good wishes,

Ros

[Buckley123 in reply to lupus-support1]

Thanks ros I know he’s six now he’s had the op and doing well it was more his hand really I wondered if it could have a connection with aps as they believe it to be a interruption of blood flow.

Long shot I know x

[MaryF Administrator in reply to Buckley123]

Hi, I enclose this article for you, sorry for the late reply, I have been travelling rather a lot currently, I hope you son continues to thrive: hopkinsmedicine.org/news/me...

MaryF

[Buckley123 in reply to MaryF]

Thanks Maryf I was more thinking along the part about his hand being the intruded blood flow and the cause for this xx

[MaryF Administrator in reply to Buckley123]

Yes, I get your point. Mary F

[Buckley123 in reply to MaryF]

Do you know of any relation to aps ? I mean I no there are miscarriages but what causes them ? Xx

[MaryF Administrator in reply to Buckley123]

I am seeing the prof next week, I will try and remember to ask him on your behalf if you would like me to. MaryF

[HollyHeski Administrator in reply to MaryF]

That would be really useful Mary, as I've not heard of this link and would be really interested, hopefully reassuring to others.

[Buckley123 in reply to MaryF]

Thank you Mary only if you can I know what it’s like with your own questions

Thanks for your help ❤️

[MaryF Administrator in reply to MaryF]

Prof has a colleague who has a child with this, so in terms of lack of blood flow and this disease, I will come back to you, once he has fully answered me. I believe there is some sort of study going on somewhere else in Europe regarding conditions in pregnancy etc and in relation to APS. MaryF

[Buckley123 in reply to MaryF]

Thanks Mary for this I really appreciate it how kind xxx

[MaryF Administrator in reply to Buckley123]

HI, this is a reply via Prof Hughes, from one of his colleagues who works in this area of medicine

'I never heard of the Hishprung syndrome in the children of our patients. Also I do not see the possible linkage between this disease and the Hughes Syndrome,

According to the info that I red, Hishprung disease in children is a bowel pathology ( luckily enough, often resolved by proper surgery) probably on genetic basis ( more than one case in the same family)'

MaryF

[Buckley123 in reply to MaryF]

Thanks Mary I was thinking more along the lines of his hand 🖐 missing fingers blood flow issue in early pregnancy xx

[KellyInTexas Administrator]

Interesting you should mention that. I know a lady in town where I live. Her mother has APS, and her aunt has aps. She herself ( about 50 years old) is currently being investigated for APS.

Wouldn’t you know, she was born with two fingers missing on her left hand and a slightly misshapen, ( too small) hand.

She told me she has often wondered if it was due to her mother’s APS.( inadequate blood supply ).

Mary - good of you to ask Professor next week.

[Buckley123 in reply to KellyInTexas]

Aw really That really interesting thanks xx

[Raw57]

I’m so sorry for your son and you. My son was born with multiple birth defects. He has 2 extra chromosomes, surgically corrected severely deformed club feet, prothrombin gene Factor II mutation, congenital hypothyroidism, developmentally delayed, he had a benign brain tumor removed at 5, etc..

I have no idea if any of this is related to APS. I never thought about it. My 2nd son is fine. With my first son I did get pregnant late in my cycle. I had miscarried 2 times before early so I took Clomid once and did not get pregnant. I decided to give it a break. I was taking my temperature and know I ovulate 3 weeks past last cycle. A couple days later I’m sure I was pregnant with my son. This was 34 years ago. My doctor did not want to see a patient until they missed 2 periods+ 2 weeks. So a patient would see him for the first time at 10 weeks pregnant. Sonograms were only done if there were issues. I had one at 25 weeks because I measured the size of a 40 week pregnancy. I had too much amniotic fluid. He drained some but I quickly fill back up. Luckily I did not gain much weight so I did not look bad. I was like Princess Kate and hospitalized for nonstop vomiting through out the pregnancy.

[Buckley123 in reply to Raw57]

Thank you yes my son had a benign Timor’s removed out of his hand too. Sounds like you have been through a lot it’s just a thought as I know it can cause miscarriages so what’s to say it’s not cause of interruption of blood flow .. can’t seem to get a answer but it dose make sense I think xxx

[Raw57 in reply to Buckley123]

It’s possible to never have an answer. I think it’s best to do our best each day and move forward. 😊

[Buckley123 in reply to Raw57]

Yes your right defiantly xxx