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I'm new here. My son, Skyler, was born 2 months early with a rare condition called Septo-Optic Dysplasia. The doctors are unsure what causes it, they don't know if it's genetic or not, but it has nothing to do with him being born premature, although if he hadn't been they likely would not have discovered it until he had a seizure so while I hated every second of his 2 month NICU stay it was worth it in the end.
They couldn't figure out why he wasn't ready to go home after 2 weeks because he was seemingly fine except that he kept desatting (his blood oxygen levels would dip too low) they couldn't figure out why and we kept hearing encouraging things from his doctors like "your son is a puzzle to us, we can't figure out what's wrong with him. He should have gone home by now." Lovely things to hear when you are already freaking out about having a premature baby. When he was 2 months old they finally were able to do an MRI and they found out he has an ectopic posterior pituitary gland. We were given scripts for 2 different hormones that he would need to take every day for the rest of his life and set up with a pediatric endocrinologist.
We asked the endocrinologist if there was anything else we needed to worry about with his condition. They told us no, he will be otherwise normal with this condition. All he needs is replacement hormone therapy. Okay fine, we can handle that we thought. Fast forward about two weeks. My son has been home from the hospital and I am becoming increasingly concerned that he's not seeing anything. He opens his eyes, but he does not focus on anything. I've done all my reading, babies are supposed to stare at their mother's face. I know he has nystagmus, and he was born premature, but I bring up my concerns to his pediatrician and I get "oh don't worry he is just premature, he will start to focus on things in time."
I am not convinced. I continue to try to draw his attention to anything, and his eyes refuse to cooperate. One night it's pitch black and he wakes up for a feeding so I take him to the living room and turn on the tv, and he does look toward the light from the tv. But he does not do it again. I go online, I do my research on his ectopic posterior pituitary gland and I find things related to Septo Optic Dysplasia. I read the signs/symptoms and I realize with sudden fear that my child is blind, and that he has this syndrome. I call the endocrinologist, they say that they will get back to me and when they do they say that they will schedule an appointment with an opthalmologist and a neurologist.
The opthalmologist gets him in right away instead of us sitting on a 6 month waiting list like they originally said when I requested to see one. The opthalmologist confirmed for us that his optic nerves are under developed, and that he will most likely be able to see something, but that he is definitely visually impaired. And we are sent over to the neurologist who indeed confirms that he appears to be missing his septum pellicidum and indeed he has septo-optic dysplasia.
What I don't understand is why his endocrinologist didn't think to mention the possibility of such a syndrome and why no one believed me when I brought it up at first. I think it's because I am a young mom, (in my early twenties) and that I'm not a specialist so what could I possibly know. But I don't understand why they couldn't do their jobs and figure out that SOD was a possibility in this case. They didn't even consider it until I told them that's what he had.
Now Skyler is just over a year old and he's thriving. He sees more than we could have hoped initially. We're pretty sure he can see at least two feet away. He loves exploring the world around him, he's got a lot of support from the CNIB, we practice "reading" his Braille and Large Print books together even though he obviously can't read yet. I say the words out loud while he feels them with his fingers. He takes his meds twice a day, and we hope that he will continue to grow on his own, but are prepared for the day that we may need to start growth hormones, and eventually testosterone injections.
The one thing that gets to me about his blindness is other people's reactions. I understand that they just don't know what to say and that it's socially awkward, but I tire of having to explain to people that there is no need to be "sorry" for me or my son. He is the happiest child you could ever meet. He knows no different, he sees the world the way he always has, and it is not a sad thing to be different. I would accept an "I'm so sorry" if my son had something life threatening, but being blind is no reason to be pitied.
I hope to get to talk to other parents of special needs children, and share a sense of community with people who get it.
They couldn't figure out why he wasn't ready to go home after 2 weeks because he was seemingly fine except that he kept desatting (his blood oxygen levels would dip too low) they couldn't figure out why and we kept hearing encouraging things from his doctors like "your son is a puzzle to us, we can't figure out what's wrong with him. He should have gone home by now." Lovely things to hear when you are already freaking out about having a premature baby. When he was 2 months old they finally were able to do an MRI and they found out he has an ectopic posterior pituitary gland. We were given scripts for 2 different hormones that he would need to take every day for the rest of his life and set up with a pediatric endocrinologist.
We asked the endocrinologist if there was anything else we needed to worry about with his condition. They told us no, he will be otherwise normal with this condition. All he needs is replacement hormone therapy. Okay fine, we can handle that we thought. Fast forward about two weeks. My son has been home from the hospital and I am becoming increasingly concerned that he's not seeing anything. He opens his eyes, but he does not focus on anything. I've done all my reading, babies are supposed to stare at their mother's face. I know he has nystagmus, and he was born premature, but I bring up my concerns to his pediatrician and I get "oh don't worry he is just premature, he will start to focus on things in time."
I am not convinced. I continue to try to draw his attention to anything, and his eyes refuse to cooperate. One night it's pitch black and he wakes up for a feeding so I take him to the living room and turn on the tv, and he does look toward the light from the tv. But he does not do it again. I go online, I do my research on his ectopic posterior pituitary gland and I find things related to Septo Optic Dysplasia. I read the signs/symptoms and I realize with sudden fear that my child is blind, and that he has this syndrome. I call the endocrinologist, they say that they will get back to me and when they do they say that they will schedule an appointment with an opthalmologist and a neurologist.
The opthalmologist gets him in right away instead of us sitting on a 6 month waiting list like they originally said when I requested to see one. The opthalmologist confirmed for us that his optic nerves are under developed, and that he will most likely be able to see something, but that he is definitely visually impaired. And we are sent over to the neurologist who indeed confirms that he appears to be missing his septum pellicidum and indeed he has septo-optic dysplasia.
What I don't understand is why his endocrinologist didn't think to mention the possibility of such a syndrome and why no one believed me when I brought it up at first. I think it's because I am a young mom, (in my early twenties) and that I'm not a specialist so what could I possibly know. But I don't understand why they couldn't do their jobs and figure out that SOD was a possibility in this case. They didn't even consider it until I told them that's what he had.
Now Skyler is just over a year old and he's thriving. He sees more than we could have hoped initially. We're pretty sure he can see at least two feet away. He loves exploring the world around him, he's got a lot of support from the CNIB, we practice "reading" his Braille and Large Print books together even though he obviously can't read yet. I say the words out loud while he feels them with his fingers. He takes his meds twice a day, and we hope that he will continue to grow on his own, but are prepared for the day that we may need to start growth hormones, and eventually testosterone injections.
The one thing that gets to me about his blindness is other people's reactions. I understand that they just don't know what to say and that it's socially awkward, but I tire of having to explain to people that there is no need to be "sorry" for me or my son. He is the happiest child you could ever meet. He knows no different, he sees the world the way he always has, and it is not a sad thing to be different. I would accept an "I'm so sorry" if my son had something life threatening, but being blind is no reason to be pitied.
I hope to get to talk to other parents of special needs children, and share a sense of community with people who get it.
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Replies to This Discussion
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Permalink Reply by Leah on -
Hi Azaera,
I'm Leah and I have a 5 year old boy with ONH/SOD and other conditions. It sounds like you have done so much to adjust and adapt.
SOD is kind of funny in that so many areas can be affected.
You probably know that there is an ONH/SOD specific listserv? Let me know if you want the link.
Reading literature from the US National Federation of the Blind (and attending conferences) really helped me learn about positive adaptations to blindness. Of all the blindness organizations I was the most inspired by them.
So what meds is he taking so far - cortisol replacement?
I hope you will enjoy this site!
Leah
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Permalink Reply by Azaera R on
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Yes, he's on pedia pred for cortisol replacement and he's on levothyroxine. We are well prepared in the visual area for him, his OT from the CNIB comes every second week to track his progress, and we work every day with him. His tracking is really good, and we're sure he can see at least two feet away. I also took a course through Hadley School for the Blind, and I can read grade 1 Braille. Today we finally got our Braille labeler and I'm so excited, we've started labeling his books and his flashcards (Large Print stuff of course).
I know of one group for SOD, but I'm not sure if it's the same one. I also have a blog where I yammer on about him and our daily lives hehe. I'm always excited to meet other parents whose kids have SOD because it's just so rare. Not that it's a really a good thing to be excited about, but I just like knowing that we're not alone. How about your son, is he on prednisone as well? Does he have the diabetes insipidus? Skyler luckily does not.
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Permalink Reply by Leah on
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My son has only had to take cortisol replacement once, and no, he does not have DI. He is a bit atypical and we wonder if he may have some other unknown genetic syndrome because though he has a lot of the SOD stuff, he has other stuff as well. The geneticists are working on him, it is just a very slow - many years long process. He takes other prescriptions that are not a normal part of the SOD journey. He also has paralysis and weakness of the eyelids and eye muscles, that is not a normal part of SOD, but of another genetic condition called CFEOM.
There's a study being done of locations of birth of children with ONH - I think this is the right link
http://www.chla.org/site/c.ipINKTOAJsG/b.3920137/
Congratulations on learning grade 1 Braille. I haven't done this yet and I'm sure it feels wonderful. Skyler is lucky to have you!
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Permalink Reply by Sammie Fick on
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HI Azera,
I so understand how tired you are of people saying they are "sorry" when they learn your son is blind/visually impaired. I have two sons who are deaf. In my case I adopted them knowing they were deaf so this part of them is sort of a non issue for me. I too have had people come up to me and say they were "sorry". It tends to happen when we are in line for something like the grocery store. It has gotten less often as the boys are now older, but when they were younger people would often comment on how sorry they were.
I think that people are thinking of them selves when they say this. They would not want to be, blind, deaf.... fill in the disability, they can't imagine it and see is as a huge loss. What they don't understand is that life goes on. That people are so much more then their eyes or their ears. They still function, maybe a bit differently, but they have full lives, they are not "suffering". People are just projecting onto you and your son their own fears/concerns. We don't really need this, we have moved on past it, so it does always seem odd. We would all prefer that people just see our kids for the cool kids they are, and not make it all about the 'disability" or how "special" we are to be able to parent them.
Have you gone to yahoo groups? If you are not on a sight for other parents whose kids have vision issues I'm sure they have a few there. I know I enjoy the groups I am on for parents of kids with hearing loss.
Sammie
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Permalink Reply by Azaera R on
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I have joined a few groups. Most of them are not super active. I find that it's hard to come across other parents of blind children. It's not a very common childhood disability. Thanks for the ideas guys and the lovely responses. If you have blogs or you want to chat I would love to hear more about your wonderful kids.
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Permalink Reply by Colette Corry on
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Dear Azaera and Sammie:
I have NEVER replied to ANYTHING before so I don't know the ettiquette. Does this go to Sammie or Azaera?
It is an honor and a privilege to read your words. I feel connected to you and your sons.
I identify with you both. My son Luke has no overall label or diagnosis; he is a loving, happy, developmentally disabled 8 year-old boy who has what I call 'Lukism.' He is just Luke, and I am Luke's mom. We neither one of us needs sympathy or pity; I certainly don't need that weird patronizing admiration I sometimes get on those grocery store check-out lines. I agree: just as I feel grateful to be cancer-free when i hear of someone else's cancer diagnosis, I think that people feel grateful for their 'normal' children when they meet Luke. That's fine, that's human, but what Luke really needs is a playdate!
Referring back to your having to dig to discover about Skyler's condition, Azaera: although you describe an extreme case of a doctor neglecting to think of the bigger picture, in many ways, I think this is the norm. Doctors know some things, but they don't know more things. Most doctors have a list of things that concern them which they check off like an inventory; they leave the interpretation, including the implications to the parents. Likewise with therapists and teachers; they may make observations and give suggestions (!), but you discard or implement according to your judgement. My son has none of the known genetic syndromes, but if he did, I know that I would figuring out how to help Luke with other parents, not with doctors anyway.
What I need is to read and write about living with and loving Luke. As I said, I have never written an online reply about anything before. I don't yet follow any blogs; I don't really understand the differences between a blog and a website and a forum! So, here I am. Maybe I have the courage to write my own profile now!
thanks, Colette
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