sam01
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Posts: 21
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Post by sam01 on Feb 16, 2009 23:56:31 GMT
i am new to this group, my son is three years old and has always had microcephaly we were tld after his first MRI scan at 6 months that his micro was caused by a lack of blood or oxygen during pregnancy and this had caused a loss of white matter ventricularmegaly but in a small head, My son Lewis' head stopped growing when he was 1 and has not grown since so in the summer 08 he had another MRI scan this time they told us that the grey matter in his brain did not form correctly either making his brain damage worse than they first thought, they told us that he has pachygyria and also a thickend cortex and where all people have 6 layers he only has four, sorry thats very simple terms but that is all i can remember until the written report comes through, from this the geneticist told us it must be a genetic condition because it is unlikely that this damage can be caused by a lack of blood or oxygen to him
i am wondering if he has a form of lissencephaly ? it is so difficult to find people to talk to my friends don't seem to understand i am 25 yrs old and its not something you really think about having a disabled child and they never know what to say to me. i suppose i am looking for people to talk to that are kind of in my shoes,
My son lewis as i say is three years old and a really happy smiley boy, the most difficult part now is waiting for the diagnosis if we get one his results are being sent to dr pilz in cardiff i think and then she will see what to test for
thanks for letting me rant and if anyone has any idea what i have been talking about it would be great to hear from you
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Post by porkchop on Feb 17, 2009 4:08:26 GMT
Hi, I am new here too, and I wasn't going to join, but Pachygyria caught my eye since my daughter has it also in the temporooccipital area. Her head, to me, looks small, but the doctors say she is within normal (whatever that is!) I understand that this is a form of lissencephaly. We had a really difficult time with her, as she was unable to suck or coordinate any secretions, had a ng tube (which I couldn't stand, so I took it out and hand fed her), a heart and respiratory monitor, and was extremely hypotonic (floppy muscles). Funny thing, we had 3 MRIs on her, and the first two were "inconclusive", but the third one screamed her diagnosis-she was 5 years old. So, we were dealing with no real diagnosis for 5 years. The strange thing is, she got cut off of services because she has lissencephaly, and not cerebral palsy. I homeschool her now, and we use the local university for speech services. She is a doll, and very cute and sweet. Her disposition is very happy and positive, and she is very active. We had received so many poor prognoses, but with prayer and lots of love, she is doing extremely well. My friends and family were absolutely no help, they kind of all hid away and were very uncomfortable around me due to my daughter's disability (she is my fourth child, and my life was very comfortable before). My support was actually the nurses and therapists!!
Please hang in there. We are here to listen and to talk. It really, really helps to get it all out..Friends, at least most of the time, do NOT understand. Out of 20 grandchildren, I am the one with the disabled child, so no one knows what to say or how to react. Keep up with all the research using internet. I found out the more I knew about my daughter's disability, the more at peace I felt.
Porkchop
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sam01
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Posts: 21
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Post by sam01 on Feb 17, 2009 10:15:13 GMT
i do really look into thngs on the internet but i find it really hard because the conditions that are associated with what he has only have a couple of things that match him. My son is doing really well he is three and has just started to pull to stand and he has a k walker although he is not really ready for it , his speach is ok , but he only seems to have difficulties learning and nothing really medical like heart problems or breathing nothing like that so we are lucky and to date we have only had one bad siezure and the only other things he suffers from are the odd absence here and there . i understand that this may change and am ready for that. i think the most difficult thing now for for us is that we don't look at lewis as a diagnosis or anything like that we look at what he can do and where we can help him develop next but now with the genetic testing as much aswe want to know what is wrong with our little boy its hard also because it makes everything so real. The dr was also quick to tell us that his condition was very rare and he brain damage was massive yet he continues to do well.
i just wish as i am sure everyone here does that there was a little door to when they were ten or any other age and you just open it and have a quick look at where they would be in 10 years and then we would know what we were aiming for and coud come to terms with that
thank you
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Post by lorraine&Leon on Feb 17, 2009 13:49:50 GMT
Hello Sam.
From what I was told, Pachgyria is a descriptive term for the type of folds (or lack of folds) on the surface of the brain. It isn't actually a condition/syndrome on its own.
My son Leon has partial Lissencephaly in the crown area and the types of folds are described as Pachygyria.
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sam01
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Post by sam01 on Feb 17, 2009 14:01:22 GMT
yeah i know its not the diagnosis it only describes how the brain is affected we are waiting for the genetics team to tell us what genetic disorders to test him for
lewis only has partical pachygyria i think just in the front of his brain or at least it is more profound there i am not too sure i like veryhting in writing so i can read through and look up things i don't understand (just waiting fr the minutes of the genetic appointment to come through) , we only found all this out two weeks ago
How old is leon and how is he doing if you don't mind my asking are they looking into any genetic conditions with him
thank you
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Post by lorraine&Leon on Feb 18, 2009 0:27:13 GMT
Leon will be 6 in June and is doing pretty well. He is usually healthy, he's never needed to be admitted into hospital or anything.
His diagnosis is Partial Isolated Lissencephaly Sequence, the convolutions are of the Pachgyria type around the crown area of the brain. The Liss is often due to a deletion of what's called the LIS1 gene. This was found to be present but was mutated somehow. As it is a mutation rather than a deletion, we are less likely to have another child with Liss. It was just a random error.
Leon goes to a special school and has severe learning and physical disabilities. He can sit unaided on the floor and weight bear with support for a couple of minutes. His hand function is very poor though. He is quite tactile defensive, though he has become much more tolerant of attempting to hold things since starting school.
He communicates with a few attempts at words, more using his eyes and body gestures to let us know what he wants.
He eats solids from a sthingy but can't chew dry foods yet. Drinks from a child's cup, often with a thickener to stop him from choking.
He has epilepsy, due to the brain malformations, and this hasn't been too worrying. He'll have a drop most days and clusters that last up to 10 minutes 3/4 times a week, at the moment anyway. He takes Lamotrogine and Epilim.
He has a happy, placid and friendly nature and everybody can't help but love him, especially when he moves in for a kiss.
His photo is on the children page on here, if you want to have a look at him.
I think that describes his key points anyway. lol
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Post by porkchop on Feb 18, 2009 4:58:40 GMT
Wow, sam01, you really hit me when you made the comment about being able to see in 10 years what you will have to deal with, or not deal with. I wonder about that constantly, and I also wonder if I will be able to handle the challenges. I am sure I will be able to, but it is so hard to just think about it. I guess taking one day at a time is helpful, but because I am a "planner-type" and don't like surprises, it can be difficult.
You are doing the very best and loving thing by just being there to love your child.
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sam01
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Posts: 21
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Post by sam01 on Feb 18, 2009 10:39:21 GMT
thanks you porkchop i am the same if i knew what i was dealing with then at least we could prepare for that, i suppose thats why i am hoping the genetics find something if you have a name to the damage then at least you can find out what those children developed like although even that would not give a clear picture as everyones brain develops different.
lewis we have been told has massive brain damage loss of white matter, micro, pachygyria a thickend cortex with less layers yet at this moment in time he is not doing too bad at all, he is three and can pull to stand (not bad) and he babbles alot he is great with colours
he does have a lot of sensory difficulties and feeding issues when he was 18 months old we took him to austria to a feeding clinic over there because our dr's wanted to tube feed him as he was still refusing solids (if you have ever seen the programme the girl who never ate that is where we went ) he came back eating off a sthingy, he still can not chew though
are leon or your daughter very small
lewis is really small for his age he has a younger brother who is just massive to him
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Post by lorraine&Leon on Feb 18, 2009 11:26:30 GMT
are leon or your daughter very small lewis is really small for his age he has a younger brother who is just massive to him Haha. On the contrary, Leon is really tall for his age. He's only 5 but wears 9/10 year olds trousers. He's very long in all his limbs and his torso. He was off the length chart at birth too. He was tested for Marfann's yndrome as they are very tall, but it was just put down to his Dad's tall genes.
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sam01
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Posts: 21
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Post by sam01 on Feb 18, 2009 12:18:55 GMT
well lewis is three and wears 12-18months clothes he is a little dot he has no muscle tome what so ever . he is starting to fall off the bottom of all the charts now
thanks lorraine
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Post by KEVIN on Feb 18, 2009 19:43:58 GMT
HI SAM. FIRST MAY I WELCOME YOU TO THIS SITE, SECONDLY MAY I SALUTE YOU FOR A COMMENT YOU MADE IN ONE OF YOUR EARLIER LETTERS.. IT IS SO EASY TO LET OURSELVES BECOME SUBMERSED IN OUR CHILDS MEDICAL TERMS.. CALLUM HAS LISSENCEPHALY ,HE HAS SEVERAL SIEZURES A DAY , HE ALLSO HAS TROUBLE EATING(STRYDER) AND YET TO ME HE IS MY 8YR OLD SON. LISSENCEPHALY IS AN UMBERELLA TERM, LIKE CANCER IT HAS MANY BRANCHES ON THE TREE,, CALLUM HAD BEEN DIAGNOSED WITH CEREBRAL PALSY AND OTHER CONDITIONS BEFORE THE POWERS THAT BE SETTLED WITH LISSENCEPHALY.. IT WOULD BE NICE TO SEE WHAT THE FUTURE HOLDS FOR CALLUM ,, BUT LIVING DAY BY DAY IS SOOO MUCH MORE FUN..I HAVE NOT SET UP ANY KIND OF EXPECTATIONS FOR CALLUM .. HE SHALL DO WHAT HE IS ABLE TO DO .WHEN HE CAN DO IT. I FIND IT SO GOOD THAT YOU ARE ONLY 25 AND YOU HAVE THE PRESENCE OF MIND TO FIND A SITESUCH AS THIS AND YOU ASK AND TAKE IN ANY ADVICE YOU ARE GIVEN .. I CAN NOT SEE WHAT WILL HAPEN IN 10YRS TIME BUT I CAN SEE THAT YOUR SON WILL BE WELL LOVED AND HE SHALL HAVE THE BEST CHILDHOOD HE CAN HAVE,, WELCOME TO THE SITE
KEVIN..
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sam01
New Member
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Post by sam01 on Feb 19, 2009 11:40:42 GMT
thank you kevein that is just the kindof support you need. i have been involved with microcephaly groups when this was all we knew about and i have to say some places it sems like a competition to see who has the worse child. shouldn't we be celebrating what our beautiful babies can do too much of the focus is on what they can't do, i know there lives will be full of limitations but i bet they have the skill to stop a room full of people who just cannot believe the beauty that has just came in.
i jusy enjoy being a mommy to lewis and my other two children and lewis is who is is just the same as they are who they are.
i get cross sometimes because a health visitor came to my house and said to me that she didn't think that i understood the severity of lewis' condition and i told her that of course i do buti am not going to sit crying every minute (i do cry sometimes don't get me wrong) i am going to see what is out there for my little boy we will make his life as good as it can be whatever that may be. we have taken lewis abroad for treatment because the uk told us that it couldn't be done there is a world of possibilities
and thank god i found this group x x
sorry for the rant ha ha
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Post by marisa81xx on Feb 19, 2009 12:39:20 GMT
hey sam i cant believe ur health visitor said that surely all we can do for these wonderful kids is to just enjoy them and love them and care for them xx whatever will be will be no matter if we hide from it or embrace it xxx my little boy has liss cant walk cant sit cant talk but he has the most beautiful smile i have ever seem and gives the best cuddles and kisses how could i possibly complain lol xxx
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sam01
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Post by sam01 on Feb 19, 2009 16:45:30 GMT
i know i said to barry lewis' dad when we are upset or crying about something to do with lewis he crawls in the room or babble something he is the most happiest boy ever so why am i feeling sorry for myself whent the person i am crying for is so ful of life and happiness, marisa your little man is just scrummy look at his eyes i could munch him all day.
the best thing we can do is just get involved with everything and that is what we do nobody can understand what it is like to be a parent to a child like ours unless you are x
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kevin
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Post by kevin on Feb 19, 2009 17:58:47 GMT
HI MARRISA YOUR SON IS ONE HELL OF A SNAPPY DRESSER, HE IS GONNA BREAK A FEW LADIES HEARTS WHEN HE GETS OLDER.. SAM PLEASE DO ME A FAVOUR. CHANGE YOUR HEALTH VISITOR,LOL. HOW DARE SHE QUESTION YOUR LOVE FOR YOUR SON SHE IS THE KIND OF LADY THAT I JUST LOVE TO ARGUE WITH.LOL..I TOTALLY AGREE WITH WHAT YOU COMMENT ON ABOUT HOW SOME PEOPLE DWELL ON WHAT OUR CHILDREN ARE UNABLE TO DO ,INSTEAD OF THE JOY OF DOING WHAT THEY ARE ABLE TO DO..I THINK SOME DOCTORS JUST WANT TO DIAGNOSE OUR CHILDREN JUST TO GET US PARENTS OUT OF THE WAY... I LOVE NOTHING BETTER THAN TO GO TO A MEETING WITH CALLUMS VARIOUS THERAPISTS/DOCTORS AND QUESTION THEM ON WHAT THEY ARE DOING FOR CALLUM.(I THINK THEY DREAD HAVING MEETINGS WITH ME.)LOL.. I AM HOPING WITH THE HELP OF THE PARENTS ON THIS SITE TO HOPEFULLY ARRANGE A DAY OUT TOGETHER SO THAT WE MAY JUST CHAT AND LET OUR KIDS HAVE SOME FUN...AT THE MOMENT MY SON CALLUM IS QUITE ILL ,, BUT SOMETIME IN THE FUTURE.. NOW I AM RABBITING ON LOL TAKE CARE FOLKS
KEVIN
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