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not sure what to think!

carlacarla
posted 1 decade 3 weeks ago
Last edited by carla 1 decade 3 weeks ago
right this is a bit of a long story!

when i was pregnant with finley we had lots of problem first was at 12 week scan he had thickened nuchal measuring 9mm so i had to have a CVS that come back with no abnormalities, but then they found that finley had a right aortic arch on his heart and that he may need operation when he was born, then at 20 week a got polhydramnios (to much amniotic fluid) they said it may be because finley was not swallowing it but luckily we see him do it on a scan but they were still not happy with that and keep say there must be some thing else wrong with him, so had more genetic tests done then at 24 week was offered a termination even thou they cannot tell us if there was any thing wrong, then at 27 week had to have steroid for finley lung as they thought i may have him early because i had so much amniotic fluid putting pressure on my cervix, any way they then decided that finley had Beckwith Syndrome, when he was born they said he had some of the sign's of it, crease on the ear which he had, big tougue but did not look bit to us! big baby which he was and low blood sugar levels which he had so he was in scbu for 5 days then sent home he had more blood test to see if he had beckwith syndrome which come back negative.



any way yesterday i get a call from finley paediatricion (which he was discharged from in July last year) well he said he had a letter from a professor saying that although the test come back negative finley could still have Beckwith Syndrome!!! we are now waiting for an appointment to go and see him but i just don't know what to think.



sorry a bit long just needed to get it of my chest.


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candgsmumcandgsmum
posted 1 decade 3 weeks ago
Aw hun I don't know what to suggest, I'm very sorry to be ignorant but I don't know what Beckwith Syndrome is. I'm thinking of you all, hope all goes well at the hospital.

No wonder you don't know what to think, it has been a hard time for you all with the not knowing.

hapydazyhapydazy Moderator
posted 1 decade 3 weeks ago
Hug I don't know what it is either, but I hope that you end up with some good news hun... let us know how everything goes Hug

HayleyHayley
posted 1 decade 3 weeks ago
me either hun Hug

i hope at the appt u get the answers u need! Love

miarubymiaruby
posted 1 decade 3 weeks ago
- My blog
aww hunnie! hope all goes well with the appointment and just remember we are all here to talk to if you need us! xxx

GTTkelGTTkel
posted 1 decade 3 weeks ago
I don't know what Beckwith Syndrome is either but I really hope you get all the support you need and that they are actually able to clarify for you exactly if there is a problem. It must be so distressing not knowing if you should be worried or not Hug

miarubymiaruby
posted 1 decade 3 weeks ago
- My blog
Just found this for those of us who arent sure what Beckwith Syndrome is, hope this helps,

Beckwith-Wiedemann syndrome (BWS) is a rare genetic disorder. It may be characterized by a wide spectrum of symptoms and findings that vary in range and severity from case to case. However, in many individuals with the syndrome, associated features may include above average weight and length at birth and/or increased growth after birth (postnatally); an unusually large tongue (macroglossia); enlargement of certain abdominal organs (visceromegaly); and/or abdominal wall defects. BWS may also be characterized by low blood sugar levels within the first days of life (neonatal hypoglycemia); advanced bone age, particularly up to age four; the presence of distinctive linear grooves in the ear lobes and/or other abnormalities of the facial area; and/or an increased risk of developing certain childhood cancers.

In most instances, BWS results from genetic changes that appear to occur randomly (sporadically). However, in rare cases, the syndrome appears to be familial, suggesting autosomal dominant inheritance. Research indicates that BWS may result from various abnormalities affecting proper expression of a gene or genes within a specific region of chromosome 11.


Hope you dont mind me posting this Carla! Hugs to you all xxx Hug Hug Hug Hug

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