septum pellucidum absence

My daughter was born 24 years ago. At her 2 month well-baby visit I mentioned that she wasn't tracking objects. We were sent to the eye doctor and was told that she had septo-optic dysplasia and would be completely blind. There was very little information about this disorder at the time. She has an absence of the septum pellucidum and slightly enlarged ventricles. To make a long story short, she has some vision in one eye. She is now attending graduate school, is extremely intelligent, speaks 2 foreign languages, plays musical instruments, is a gifted classical singer, and has a sense of humor that most comedians would kill for. Just the thought of aborting someone that "perfect" breaks my heart. She has made me a better person and is a continuing source of pride for me. She uses both a guide dog and cane, has her own apartment, takes buses and cabs so she can be independent, has traveled to numerous countries and within the U.S. on her own, is involved in the National Federation of the Blind and her state affiliate, has volunteered at Happy Tails, and the list goes on. She grew normally until about 5 years of age when she consistently registered lower and lower on the growth chart. By age 7 she began taking growth hormones and is now 5'5". She must take birth control pills because her body doesn't make enough estrogen or progesterone, has to take dexamethasone for adrenal insufficiency, and numerous other medications for other conditions. There isn't a day goes by that I ever wished I had not given birth to her. I'm not sure how accurate this is but some say that the absence of the septum pellucidum may be associated with musical and language ability.

I'm a 16 who grew up with ASP, and quite frankly doctors tend to exaggerate the possible outcome at birth. They told my parents they were almost certain I would be blind, dyslexic and would suffer from epilepsy. They were clearly wrong, because I have perfect vision, the best grades out of all the students in my classroom and only suffered a seizure once after a head injury. I think that doctors will present you with the worst outcome possible to prepare you for it. I know this is an old thread but I want people to know that ASP isn't really that big of a deal.

I just happened upon this, and want to share our story, to encourage anyone who may be in need of some hope! Our son is 11 years old, and he was diagnosed with ASP and agenesis of the corpus calloseum shortly after birth. We too were told he may be blind and disabled, but that has not been the case. He does take human growth hormone, an injection every evening, to make up for his pituitary not functioning. This has been going on since he was 4, and it's no problem at all. He also takes thyroid replacement hormone, but again, no big deal. We did keep him in nursery school one extra year, so he is a year older than many of his classmates, but again, no big deal. He is not the best in sports, but he does play soccer, baseball and is on a swim team. He was a bit delayed in his fine and gross motor skills, but he can ski and ride a bike, and his handwriting is now pretty good. He is very smart, and loves to read, and had a lead in his school play. In short, he has far, far exceeded the expectations we were given when he was a newborn. Not to say we haven't noticed little things here and there, but nothing that has impacted his happiness or his success as a student and normal child. I hope that all who learn their child has a similar diagnosis have as wonderful as an outcome as we have been blessed with!

My 10 month-old daughter was prenatally diagnosed with semi-lobar holoprosencephaly and ventriculomegaly. MRI after birth shows hpe was a misdiagnosis and she has ventriculomegaly and absent septum pellucidum. She is a perfectly healthy 10 month-old who has met all her milestones. She crawls, pulls up and waves bye bye. The brain is very complex and we can not know what outcomes are possible no matter a diagnosis. My daughter is a joy in our lives and perfect in every way. Even though my own feelings varied greatly during my pregnancy after getting such devastating diagnosis I have read about (and now witnessed) way too many misdiagnosis or great outcomes despite diagnosis to ever recommend termination on a drs "guess".

I am a Teacher for Children with Visual Impairments. Stumbled on this while researching updates on SOD/ONH. In 27 years I have seen many children who develop typically having only mild delays if any. Some ,as you see, never even knew they were "impaired"! Ha:-P

It is exciting to me to see so much community and support for families who face great hurdles number one being uncertainty and FEAR. Family supports and acceptance are the foundation.

Teacher in Oregon

 

 

hello all , we have this diagnosis known for one week, at the moment our boy is fine, even born in week 30 +4

Does any of you have any other "possitive" experiences ? every story from real life gave us power and hope.. there is

a very few informations on the net, most of them negative, but who does not have problem, also does not have a reason to share..

Whatever you have and  can say to this topic, please note here .. you cant imagine how its help us to stand.

thanks a lot

Jan / Czech Republic /

 

HI Jan

I replied to this thread over a year ago because i wanted to share a positive outcome.

Our boy who just turned 3 is a perfect little guy who happens to have an absent septum pellucidum. He is just a normal, happy little boy.

We live in Norway and were folloed up by the university hospital after discovering that the lateral ventricles were enlarged during ultrasound. The doctors were worried, we were worried, but things turned out just fine.

I am not sure what your diagnosis is. Is it just the septum pellucidum missing, or can they tell if there is something with the optical nerves? In our case they could not see any other issues. The doctor said that lots of adults walk around with this "condition" without ever finding out about it. it is sometimes discovered when they get a scan done for unrelated reasons.

I send positive thoughts your way that everything will turn out fine. All children are different, and deserve to be loved for who they are. I have come across parents with really tough situations to deal with on different forums, and I keep being amazed at how they find strength and love.

All the best

 

My son will turn 10 yrs old this month.  He was born early (at 26wks) and we found he had ASP.  I stressed and worried about this alongside all of the other issues that he may be faced with!!  He is a delightful boy.  He is very tall for his age (no pituitary issues ... had blood tests yearly until he was 7yrs old) and not issues with septo-optic displasia (numerous eye appointments.  We have been told to keep an eye out during puberty because hormone issues can become apparent then.

So, we have a son who is completely normal, even with ASP.  Our neuro said that because ASP can only be found via MRI (or ultrasound before the skull has fused) there could be thousands of 'typically developing people' walking around with this and we'd never know.

It is wonderful to see so many encouraging posts on here.

hello all,

I left a msg here during hard first week when we find out that our son has diagnosis ASP and possible troubles which can occure.

To share a possitive development - our son Alex has now 5.7 KG , (6 months old, born in  week 30+4 ,  1,580 KG) meeting his milestones, no

problems with eyes, simple perfect small boy.  Till now no problems at all, not even a simple cold.

So , whereever you are coming from and whatever doctors said to you ... keep hope and be strong, everything  turn fine.

brgds

Jan

 

 

 

Our 2 year old has this condition. We have had her eye sight tested frequently and she has presented no issues to date. She can string long sentences together and can recite the alphabet and count to 40. From what I have read, very little is known about this and it may be more common than we think. We would like to test ourselves to see if we have it. Should the opportunity come up, we will.

I am a physician and had a patient who was discovered to have this isolated anomaly in his 70's when it was discovered incidentally on an MRI done to evaluate new mild leg weakness (from age-related spinal stenosis). He had gone to an ivy league college and law school and raised two children both of whom graduated from ivy league colleges and medical schools. When fatigued he sometimes had a mild lazy eye and never wore glasses in his life. His vision was unimpaired.

hi, I'm replying to your post a year late - just found it, and I don't even know if I have a missing septum pellucidum... but i started searching for it because i have another condition which is commnonly present with a missing septum pellucidum, so that's how I ended up here. I have the lazy eye and a hormone condition... before the lazy eye got really bad, while I still could control it, my vision changed drastically and it was suddenly difficult to read a book or to see details like leaves on a tree. I also saw haloes around lights - it was all diagnosed as part of astigmatism and glasses solved the halos and sensitivity to light. I had surgery done to correct the lazy eye. dr said i'd need it again in five years - I'm afraid he's right, it's getting worse but slightly, it's been three years. For anyone out there - I know I can't confirm the absence of septum pellucidum, but judging from my other health conditions, it's very likely i have. it. I have a master's degree, I'm very healthy, active, and it would have been sad to have been aborted. Besides fertility issues due to hormone problems and my one eye lol, i'm alright.

When I was pregnant they said my baby would have down syndrome but instead was born with agenesis of the corpus callusum and absence of the septum pellucidum. She also was born with bilateral cataracts, this was all complications due to her twin sister dying when I was 3 months along. Regardless what the Dr's had told me I decided to go along with the pregnacy. Dr's are not always right, just remember GOD can move mountains, have faith and anything is possible! Regardless of my daughters condition I love her and would do it again. Babys are our gifts from GOD, he wouldn't give us anything we couldn't handle...

Wow! I am sooo happy I have tears in my eyes. 

My grandson now 2 1/2 was born with ASP and like others we were told of what "could" be and we have been watchful of his development.  I am happy to say he is a very normal and beautiful child! He is blind in one eye, because since birth he doesn't notice it and I believe he is extremely smart.  He is a little behind in speech but he communicates with signs and hand gestures... he is perfectly understood and I also believe he is very intuitive for his age,  He picks up on peoples feelings.  My grandson doesn't cry very often, and he is a very quiet child... he does get rambunxious as well, but for the most part it is like he totally understands.  We have bought him numerous musical toys as I knew he was going to have exceptional talents. 

When we found out while he was still in the womb, it was devastating... then realization set in that this is my grandchild and no matter what he will be loved.... he is very much loved by my children and we couldn't fathom not having him here with us. 

This website is absolutley terrific!!!

 

When I was pregnant & going to find out the gender of my baby the Dr saw enlarged ventricals on the ultrasound. We continued to follow this throughout the pregnancy without very little encouragement from Doctors. It seemed like everytime we would start to feel better about things, we would go to another appointment & get knocked down. This made for a very stressful pregnancy. At about 30weeks, we were told that there was fluid building up in our baby's stomach due to some form of blockage. Then, at that time it lead the doctors to believe that our baby would either be born with down syndrome or possibly live less than 2 hours after birth (They were leaning more towards the 2 hour life span). Not the news you want to hear when you have your baby shower planned. I cancelled the baby shower thinking I would not want to have baby stuff around if I was going to have a baby that would not even live 2 hours. WE PRAYED!! ALOT! We went to do an amniocentesis to see what we were dealing with. More or less to see if I needed to have a team of doctors ready or if I could have the baby at a local hospital. Well, the test came back & there was no trisomy problems. I had the baby at 36 weeks & she went into surgery 2 hours later to fix the blockage in her intestines. She had ZERO complications with that. We had every doctor under the sun look at her brain, eyes, heart..everything! She also had atrial & ventricular septal defects (holes in her heart). We had genetesis looking at her & they found nothing to explain all the issues. She was diagnosed with mild holoprosencephaly & told that the MRI we were going to have done would NOT disprove the diagnosis. Well the results came back & they were wrong!! We were then told that my daughter was diagnosed with absentseptum pellucidum with mild ventriculomegaly .

She had heart surgery when she was 12 months to correct the holes, but recovered like a CHAMP!

She is doing great! She is now 17months & haven't missed a milestone yet. She has no eye problems according to the specialist & is very social & active.

 I have read these stories (All of them) and they give me lots of hope for the future. She is truly a miracle!