anna2
New Member
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Post by anna2 on Mar 3, 2009 15:23:52 GMT
I'm new here and have a 2½ months old son, Hugo. He was diagnosed with lissencephaly when he was one month old. It came as a totally chock and life will never be the same...
The computer tomography showed a completely smooth brain, agyria (similar to the shape of Miller Dieker syndrome - which he hasn’t got). He has lots of seizures, and is on fenobarbital and topimax. He also aspirate, but he eats well and smiles a lot.
This is our first child and we would, if possible, like to have more children in the future and are therefore waiting for genetic testing.
They are planning to send a blood sample to Germany (as we live in Sweden) and start to check the LIS1 gene. If nothing is found there they will look for x-linked reasons, and after that the RELN gene.
This will take a long time and I therefore would like to hear about your experiences of genetic testings. Maybe someone has any information that could help. Did you finally get a diagnosis? Do you know which genes that were scanned in your case?
And... how are your kids with very smooth brain doing?
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Post by caroline kelly on Mar 3, 2009 16:41:41 GMT
Hi Anna, We had all the genetic testing and everything came back normal, in our case Declan's Lissencephaly happened of his own accord. I did bleed heavily at 4 months so who knows, Declan sadly passed away on the 15th December aged 6 and a half. Take care honey, i hope you find the help that you need Caz xx www.caringbridge.org/visit/declankellywww.deccydoos.muchloved.com
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Post by amstockton on Mar 3, 2009 21:50:51 GMT
Hi Anna,
our little boy has miller diekers syndrome. He started having sezuires at 4 months old he is now 11 months old. He has started to gain head control and he has had no sezuires since christmas. He is current on vigabatrin and clobazam. He does not use his hands at the moment but I feel that he is definantly making progess with them.
We have had genetic testing done. As Joseph has the facial charateristics of MDS it was not a shock that his chromosome 17 had a deletion. The genetist took blood from me and my husband and neither of us has a balanced transloction on out chrom. 17. This meaning that it was just one of those things. The genetist said we have a 3% chance that this could occur again in furture pregnancies.
Good luck and I would love to hear more about Hugo.
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bec
New Member
Posts: 47
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Post by bec on Mar 5, 2009 2:05:56 GMT
hi anna my 2year old daughter was diagnosed with lissencephaly at just 8 months. We had the genetic testing done and found that alyssa has the gene deletion so it was neither of our faults and as soon as we concieved she had liss, they doctors put it down to a "typo" in the DNA, if we were to have more kids it would be 13%chance, we have a higher chance of having a child wit down syndrome, thats how rare this is. i didnt know i was pregnant until i was 3 n half months but i dont smoke drink or do drugs the only thing i did was go to the gold coast and ride the roller coasters but when i told them this they told me that we did nothing and it happened as soon as we concieved her, one of our bodies only copied one liss gene instead of 2 thus causing lissencephaly hope this helps
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anna2
New Member
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Post by anna2 on Mar 7, 2009 20:16:16 GMT
Thank you for your answers. (Didn't really find out how to reply to every single one of you...)
Caroline, I'm so sorry for your loss. Declan really seemed to be such a beautiful boy...
"Amstockton" and "Bec", Thank you for sharing your experience.
Anna
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Post by pmacamano on May 3, 2009 22:07:25 GMT
Hi! I'm also new here. My son has his brain completely smooth excluding a small convulution on the front. He also doesnt have miller-dieker and his blood went, also, to Germany (we're from Portugal). Leo is 6months old. Leo is doing fine. He loves to talk and smile. He loves toys with music and lights and sound activated. He dont hold his head up,does not use his hands (although he is starting to suck on his right hand) and dont track anything with his eyes. Seizures are under control for now. He eats well. Pat and Leo (born 16.10.2008, diagnosed 27.01.2009) I'm new here and have a 2½ months old son, Hugo. He was diagnosed with lissencephaly when he was one month old. It came as a totally chock and life will never be the same... The computer tomography showed a completely smooth brain, agyria (similar to the shape of Miller Dieker syndrome - which he hasn’t got). He has lots of seizures, and is on fenobarbital and topimax. He also aspirate, but he eats well and smiles a lot. This is our first child and we would, if possible, like to have more children in the future and are therefore waiting for genetic testing. They are planning to send a blood sample to Germany (as we live in Sweden) and start to check the LIS1 gene. If nothing is found there they will look for x-linked reasons, and after that the RELN gene. This will take a long time and I therefore would like to hear about your experiences of genetic testings. Maybe someone has any information that could help. Did you finally get a diagnosis? Do you know which genes that were scanned in your case? And... how are your kids with very smooth brain doing?
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tammy
New Member
Posts: 14
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Post by tammy on May 9, 2009 9:33:21 GMT
hey im new here im tammy, my lil man callum is just 2weeks old we have been told tht callum has gt liss bt we dnt no wat type, im only 18 myself so quite alot for me to deal with, we have also been told that callum has got the severe end of liss so at the moment we are just enjoying the time we have got, and like most of you have said taking it one day at a time, well ive come on here just so i can talk to people who are going through the same.
will appreciate replys
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Post by Robinson on May 11, 2009 16:58:38 GMT
My daughter is also at the severe end of the liss scale with very little future prospects. I think your attitude is great, enjoying your time with your son. I don't know if it helps but the worst thing we've struggled with (prob like most parents) is the reccurrent chest infections and epilepsy. Emily is on the ketogenic diet and we keep adjusting her meds but the consultant is realistic and doesn't hold out much hope for the medication or the VNS. At the moment wqe don't know how long we have left with Emily but, as we've shown already, if she is loved and cared for in the same way she has been so far there's no reason why she won't at least reach her 10th birthday. If you need any help or advice then this website is the place to be. Everyone is so helpfull and you'll soon realise (if you're a regular on here) that you're not on your own and never will be. Feel free to contact me stuartprobinson@hotmail.com (I also work professionally within the field of children with severe learning disabilities and have worked in the learning disability field for over 13 years) Take care Stuart and Emily x x
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tammy
New Member
Posts: 14
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Post by tammy on May 12, 2009 22:45:54 GMT
thankyou for your replys
thankyou stuart and emily, i have found this website very helpfully and supportive, im not quite , sure what the care plan will be for callum yet as he is only 3weeks old today and is still in hospital, callum has already started fitting so he is now on a medication to controll them. we have been warned about the chest infections and that they are serious. i am sure emily is very loved as our children are special and i believe there is a reason for everything even though they sometimes not very nice reasons. all the best and thanks again for writing back xx
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bec
New Member
Posts: 47
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Post by bec on May 14, 2009 7:06:10 GMT
aaaahhh im so sori, i meant to say if we had any more kids we would have a 1%- 3% chance not 13, hope i didnt scare anybody
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Post by kerri3 on May 14, 2009 11:56:00 GMT
Hi Bec, Bit of a coincidence I too went on the rollercoasters at the gold coast before realising i was pregnant! Kerri (with Billee now 18 months)
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bec
New Member
Posts: 47
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Post by bec on May 16, 2009 6:41:59 GMT
hi kerri, yeh go thru stages now where i blame myself only because i look for someone to blame and i no in my heart its not my fault but the doctors say it happened as soon as we concieved but in my head i feel itsnot a good enuf reason so i blame myself, im so paranoid now, i watch wat i eat, dont drink dont hang around anyone who smokes, its hard coz i just wanna give alyssa the life she deserves and i fee l like weve had to fight for everything we have with her when it comes to services equipment etc fingers crossed everything will work out xo
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tammy
New Member
Posts: 14
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Post by tammy on May 30, 2009 14:38:53 GMT
callum is doing fine now, hes doing great and at last he is at home wer he should be he came home thursday 28th. im just glad to have him home xxx
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Post by marisa81xx on May 30, 2009 22:32:11 GMT
awwww tammy thats wonderful news xxxxxxxxx give him big kisses xx would love to see a wee pic of him xx do u have a caringbridge page or are u on facebook xxx
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Post by cindy on Feb 19, 2011 14:14:21 GMT
The doctors may say 1-3% chance, my family was told 5% chance of it happening again, well twins were born and we were just told they both have exactly the same as our first families baby that only was with us a very short while. In my opinion, (keep in mind we are very raw and mad right now), don't try. Adopt! There are sooo many unwanted children desperately needing someone to love them. I really don't know if my family will survive another 2 baby funerals. I know I won't be trying to have a baby of my own. I will adopt if that is what God calls me to do. Not everyone is called to be a mother and what is happening to my family is scaring the nuts out of me! God bless you all,especially the little ones!
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