Possible to do

Schinzel-Giedion Syndrome
#1

Hello,

Our son is now 2,5 months.
Sometimes we think we have some contact with him when we hug him and tuch him. He likes to be cuddeld.
Most of the time he sleeps and also he cries often. (He is in the hospital for the moment because of his belly, the feaces doesn’t go very well)
When these babes get older, what can they do?
Is it possible that he will smile one day? Can they take somethings with there hands? Are they awake at day?
Our genetic told us to don’t expect anything. So every little thing will be a miracle.
What are your experience of their developing?
(sorry for my bad english)

Thank You,

#2

Hi Chieltje,
Not sure how much you have read about SGS and its problems.
http://www.schinzel-giedion.org/ has a lot of information you can read about. All I can say is that each child is different in the way they respond to you.

In our case, Wilson seemed to enjoy cuddles and did smile occasionally, we even got him on the verge of laughing a few times but he couldn’t seem to take that final step into laughter, it was almost as if it scared him, but we knew it was close.
As to “taking things with their hands”, Wilson wouldn’t reach out to grab things but could hold things in his hands if we placed them there, but his hands were gripped pretty much all the time so it was a case of opening his fingers and placing something in his hand and he would hold it.
His sleep pattern was very strange, we later found out it was possibly a chemical imbalance in the brain, linked to his poor eyesight. The brain needs to know when it is light and dark to create a balance in sleep patterns, when you have little to no sight the brain can’t figure it out by itself, which makes for very confusing sleep patterns.
Due to their short-life expectancy, development is hard to determine, but like everything else with this syndrome each child seems to be different. In our case, Wilson didn’t really develop any new skills that you would expect from a healthy baby in the whole 22months he was alive unfortunately.
Hope this has answered a few questions for you.

Ray (Wilsons Dad)

#3

Hey Ray,

Thank you for your answer.
I am sorry to hear that Wilson passed away. I hope that you have a lot of
good memories of him.
Chieltje his sleep patern is also very different each day. He takes anti
eplileptic medication because of his seizures.
I’ll ask the doctors if they want to test his eyes, you gave us a good tip.
We know that one ear is good (the brain for hearing), the other not.

Is there any advise that you can give us also?
How was Wilson his drinking patern? Chiel had a nose tube the first month
and now it’s 1,5 months that he drinks with the bottle.
There are days that he doesn’t drink very good. Other days it’s possible to
drink what we give him.
Could Wilson eat food? Or was it milk during his life?
Did he cried a lot when he was a baby? I’ll think Chiel has pain of his
belly.
I hope you don’t mind our questions? I’ll understand if this is to painfull.

Thank you,

----- Original Message -----
From: “wilsons mam” forum858-cpt10954@lists.careplace.com
To: mathieu.cauwelier@telenet.be
Sent: Monday, November 10, 2008 5:02 PM
Subject: Re: [forum858] possible to do

#4

Hi there
Our experiences with Sofie are the same as what Wilsons Dad has reported. I find a good day for Sofie is she will smile lots and sort of giggle. Then there might be a couple of weeks where we don’t see any progress at all and we get no smiles. We can place toys in her hand like a rattle but I don’t think she is aware of there being a toy. We rest her bare feet under a sheepskin teddy bear and she seems to like the feeling of this on her feet. she is 9 months old and I think she is more like a 2 month old baby and hasn’t really progressed apart from the smiles and cooing noises she makes which I think are her trying to communicate. She does know our family, loves cuddles and being talked to and looks at bright pictures which we prop around her. Her sleep patterns are also a bit mixed up we were told you can get something prescribed I think it is called melatonin which can help with sleep for children with poor eye sight etc.
Leith : )

#5

Hi again,
Thanks for your words and yes, we will always have good memories of him. There are pictures of him in our profile, not sure if you are able to see them or not.

Wilson was good with his feeding and was on milk all the time as well as some pureed meals from about 6 months onwards. He also had good days and bad days with his food/drink. Sometimes he would want more than you were giving him and others he just didn’t want to feed at all. We later found out, at about 20 months old, that he was aspirating while he was drinking, which basically means that fluids were getting onto his lungs so he had to have a gastric feeding tube fitted and was tube fed for the last two months of his life. I would urge you to go check whether Chieltje is aspirating as it can cause some very bad chest infections.

The only time Wilson ever cried was usually straight after a seizure, apart from that he was a very good baby. He went through all his hospital visits with ease.

Feel free to ask any questions you have, we know what a hard time you must be going through and its good to speak to others about it.

@Leith: Yes, Melatonin is the chemical in your brain that controls the sleep pattern. People with limited sight have a lack of it. We only found out about it late so didn’t actually pursue it.

Take care
Ray

#6

Hello,

I saw some pictures of Wilson at the startpage, not on your profile.
(couldn’t open it)
I 've put some pictures of Chiel also.
All of these children look asame, just like brothers and sisters.

Was it possible for you and your wife to take care of Wilson at home?
We both work. (In januari i start again)
We think we will do him at day in a special daycare. After my work and the
night he will stay at home with us.
I hope we can handle it.

Thank you for your advice with the drinking. Somethimes it’s too hard for
him to drink and than i must be carefull feeding him.
Do you have other children? Chiel is our first child.

I was glad to read that you have good memories. It’s a very hard time for us
but we also enjoye some moments.

Take care,
Nele and Mathieu

----- Original Message -----
From: “wilsons mam” forum858-cpt10954@lists.careplace.com
To: mathieu.cauwelier@telenet.be
Sent: Monday, November 10, 2008 10:02 PM
Subject: Re: [forum858] possible to do

#7

Hey Leith,

Thank you for your answer.
What does Sofie eats? Is it milk? Or does she eat some mixed food?

I’m glad to read that Sofie can smile somethimes. Each child is different,
but i think, as a parent, it’s important to have some hope. I don’t expect
anything of our little boy so every little thing will be big.
The day it was possible to drink from the bottle was a big day. I think
other parents feel the same when there healty child walks.

Thanks

----- Original Message -----
From: “leith” forum858-cpt10954@lists.careplace.com
To: mathieu.cauwelier@telenet.be
Sent: Monday, November 10, 2008 8:59 PM
Subject: Re: [forum858] possible to do

#8

Hi there
Sofie has a naso gastric tube for feeding, she used to take a small amount of milk from a bottle but got quite sick when she was younger wtih an infection and after that stopped taking the bottle completely so she just has milk via her feeding tube. Even with this some days I find she is not that hungry compared to others. I tried some puree food but she doesn’t seem to swallow it and it just sits in her mouth. Sometimes I put a little bit of yoghurt on her lips for her to taste. I found Sofie used to cry a lot when she was quite young but seems quite settled and content now. Anyway hope you are coping ok. If you ever want to chat don’t hesitate to email me at
leith@clear.net.nz. This website is great for support and ideas.

#9

Hi,
Yea, I’m not sure what the deal with profiles is on this site but I can’t seem to make this one public. Anyway, heres a few pictures I have of him on another site. He was roughly 18months old here:

Wilson was cared for at home by his mother during the day then I would take over on a night when I finished work to give her a break. In our country you can become a carer and be paid by the government for staying at home to look after sick children even if they are your own, which was great. We also had a lot of support from a few local charity organisations for respite care and for funding special equipment for him. We also have a lot of family that live closeby who provided us with good support and were always there for us when needed

Wilson was our first and only child so far. We are still unsure about future children as the risk of having another baby with SGS is fairly high. 1 in 4 chance if what the doctors are saying is right, although there is so little known about how SGS comes about this is still not certain.

Yes, I understand it will be a very hard time for you. You do have the advantage of an early diagnosis though which we never had. We were originally told Wilson had Robinow Syndrome and it wasn’t until he was nearly 12months old that he was re-diagnosed with SGS, which was probably the worst day of our lives.
All I can say is cherish every moment you get with him.

Ray

#10

Hello Ray,

I posted a reply but I don’t see it. I’ll try again.

We knew Chiel had SGS when he was 3 weeks old. Time stand still since then.
Since a few day’s it’s possible to see a future with Chiel. When they told
us, I saw no future.
Now, it’s not the future that we expectited but there is a future. Short in
time but hopefully with not much pain.
I hope that we, as parents, will have the courage and possibility to take
care of him. Even with our jobs.
Your right that we had the advantage to know the syndrome so quicky. The day
he was born, we knew something was wrong. His appereance, but also he did
not eat, stopped breathing,… Ha had seizures since day 2.
When we heard SGS we thought there couldn’t be worser news.
I think it must be very hard for you and your wife when you heard it of
Wilson when he was already 1 year old. We know from the biginning of his
life what (not) to expect.

Our genetics told us that we may have other children. He doesn’t believe
that SGS is autosomaal recessieve (1/4). He thinks it’s “gonadaal
mosaicisme” (in dutch) That means that there was an genetic error in the egg
of the woman or in the sperm of the man. I don’t know if you may believe
him? He thinks there is a chance for another child with SGS but there is a
lesser chance then 1/4.
We are also scared and don’t know if we believe him.
Now, we’ll try to enjoye our time with Chieltje. We’ll see what the future
will bring us.

From witch country are you from?

Best,

----- Original Message -----
From: “wilsons mam” forum858-cpt10954@lists.careplace.com
To: mathieu.cauwelier@telenet.be
Sent: Tuesday, November 11, 2008 2:56 PM
Subject: Re: [forum858] possible to do

#11

Hey,
From reading this thread I can see that you and your husband will do a great job of looking after Chiel. Just keep in mind that your childs quality of life is more important than what the Doctors may recommend. We had to make a lot of decisions regarding Wilsons treatment and medication, and sometimes what the Doctors deem as “necessary” may not be in the best interests of your childs quality of life.
I mean, if something is life-threatening to your child then do what you have to do, but sometimes things that aren’t as necessary in a child with SGS should be considered carefully as to what pain it may cause.

I will look into what you were saying about “gonadaal
mosaicisme”, Thanks.

And we are from England.

Ray

p.s. my wife just commented on you saying they all look like brothers and sisters, which is what we thought too =)

#12

Hello,

From the moment we think the same as the doctors of Chiel. But I’m sure that
this will not always be.
I said that we need to follow what Chiel ask. If he wants to drink 60 ml,
don’t try to give 100 ml. He has enough.
The doctors agree. he doesn’t need to drink like other children.

But last week he had a lot of pain so I asked the doctor if they can give
some “painkillers”. They wouldn’t do it.
They changed the milk and gave an medication for his belly and now I think
he doesn’t have a lot of pain. At the moment he don’t need to have
painkillers. But it was very hard for us as parents last week to see him
suffer.
So I agree, as parents I think we know best…
Did Wilson ever needed some painkillers? (Or is this to painfull to talk
about it? I understand if this is)

About gonadaal masocuisme, I don’t know if you may believe our genetics. I
have my doubts.
I think, as a couple, you need to ask the question, can I handle another
child with SGS? If you have the courage, than maybe you can think about
another pregnancy.
We can’t make this decision yet because Chiel has been a lot in the
hospital. When we will have him for a time at home (maybe his life), then we
can make this decision.

Best,

----- Original Message -----
From: “wilsons mam” forum858-cpt10954@lists.careplace.com
To: mathieu.cauwelier@telenet.be
Sent: Tuesday, November 11, 2008 7:37 PM
Subject: Re: [forum858] possible to do

#13

Ray, What country are you from? I’ve never spoken to another Dad of a child with SGS. I’m Luke’s Dad.

#14

Hi, Luke loves to be touched, rubbed, held, spoken to and also likes when you sing to him. Physically, he can’t hold his own head up and is much like a 3 week old newborn, even though he is 15 months old. I will say, his does see and hear us and will respond with (very subtle) smiles when he’s feeling good. Luke loves watching and listening to his mobile. He also enjoys stimulation. He is very lovable.

#15

Was it since he was born that Luke can’t hold his head up?
Or happend this in time?
Chiel also loves his mobile. Also he likes to have warm.
He likes to be cuddled, but doesn’t like it when you move him.
He can’t move his leggs anymore. The doctor said that he lost a reflex.

#16

When Luke was first born, he was able to pick his head up, but then lost that ability a few months later. Luke gets stiff on his right side, and we try to gently massage it and gently provide physical therapy. We also have a Physical therapist come to the house twice a week to work on his stretching, mobility and reflexes. Sometimes when he gets stiff, we give him Tylenol, which seems to help him relax and loosen up a little. His stiffness is a constant battle, some days better than other days.