Pachygyria Member Introductions

#15

My older son has pachygyria on his right parietal lobe. It’s part of an unknown syndrome with 100 other symptoms. He also has a metabollic disorder. He is 3.

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#16

My daughter has been diagnosed with microcephaly and pachygyria.

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#17

My 9 month old son was recently diagnosed with PMG and we are eager to learn more about it and chat with others who are going through this as well. Thaks for staring this group for us!

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#18

I’m a single mother of a 8 yr old that has pachygyria and cerebral palsy.

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#19

My son Nicholas was born with this condition. He is six now and will be starting grade 1 in the fall.

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#20

Hi All,
Can anyone tell me something positive I can tell my cousin who just gave birth to a newborm with Pachygyria? She had a hard time getting pregnant and is 36 years old, so this is her only child…a beuatiful baby boy.
All I know is that his condtion affects the frontal lobe - speech and motor skills. She and her husband are so upset that they cannot talk about it just yet.
I think all of you are brave and wonderful parents. :slight_smile: -Lin

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#21

You know she was delayed in all those things… I look back and she slept a lot, like 5 hrs at a time just home from the hospital. I thought I was just lucky. She hardly ever cried, and I remember after 6 months she still wasn’t grabbing her toys. She finally sat up on her own around 10 months and crawling around the same time.

She didn’t walk until she was 21 months and that is when I started freakin out to the dr’s. Before that she had like 2 episodes of seizures and had an MRI but everything looked normal at that time, or they just didn’t catch it.

She has always been a good 2 yrs behind but that gap seems to be widening. POtty training was a bear and seemed to take forever… we still have issues at times. She is very tiny, only 55 lbs and 11 1/2. What are the other brain issues your daughter has? What part of her brain is affected?..

My email is mikeandkim2@verizon.net if you email me then I can also let you know my number if you want to call…

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#23

My daughter is 4 months old and recently diagnosed with pachygyria, schizencephaly, agenesis of corpus collosum and colpocephaly. I’m in need of support form those who have been there or currently going thru it. Thanks!

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#24

Hi kj, I forgot I was even on here until I saw your post today… My daughter has been diagnosed with pachygyria for almost 6 yrs. she is now 11. Its quite extensive throughout her brain, the frontal lobe, parietal and temporal lobes. She’s had delays since infancy but continues to surprise even the dr’s. We were told she would probably never write and to get a computer for her but she does write and as far as I’m concerned, she writes pretty well for her disability. She reads amazingly well but has a pretty difficulty time with math. My point is there is just no way of knowing what your daughter is or is not going to do at this point. We still don’t know where our daughter is going to be and that is extremely difficult and frustrating! However we did just get the label “developmentally disabled” which was bitter sweet. I pulled her from public school to homeschool her a year ago because we were getting limited services. My point is on that, follow your instincts on your daughter… You are the mother, you are with her day in and day out and connected to her like no one else, do not doubt yourself! It has been very hard to find support since every child is affected differently. Some children are affected lightly where nobody would ever know. Some you can tell as early as infancy how extensive it might be… Or as in our case its been more noticeable in the last couple of years and I feel as if we’re starting over with our diagnosis. There is a dr. in Chicago named Dr. Dobyns… I never did meet with him or send my daughters MRI to him. But you can send the MRI and he will evaluate it and is highly knowledgable in lissencephaly and pachygyria. I’ve heard wonderful things about him and you can google him, if I remember correctly he’s easy to find. I hope this helps you in some way and honestly if you need to ask any questions I can answer how its been for our family.

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#25

What was your daughter like as an infant? Did she play with her toys, sit on her own, roll over? I guess I’m just trying to figure out the severity of her problems. Is there any way to know without “waiting and seeing?”

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#26

She has pachygyria (i believe its bilateral and in all lobes but the occipital), right sided-closed lip schizencephaly, colpocephaly, thin corpus collosum. We have an EEG tommorrow a.m. and an ophthamologist appt tues morning as she doesnt seem to track real well and doesnt look to the right past midline. Shes pretty social when she’s awake. I wouldnt know there was any problem except the lack of any head control and the vision issues. Does this sound like par for the course?

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#27

Hi All,
my son is 16 months old and the doctors say he has Pachygyria and possibly Polimicrogyria along with ventryclemegaly, partial agenesis of corpus callosum, smaller than normal cerebellum and brain stem. he has problems seeing and does not hold his head or roll over.
He is beautiful tho and big for his age. All his organs are fine except for the brain…
We are still devastated, this is our only son, my wife and I are in our mid 30’s … the doctors didn’t find anything genetic about this so we will try and have more babies.
We don’t know how long he will be with us but the doctor says that he will have no problems living a long life (?)

We have tried hyperbaric oxygen to try to send more blood and oxygen to his brain.
Stem Cells via IV (outside the US) this was about 6 months ago, we think he started being more alert and kicking a lot more but no developmental gains so far. We will continue waiting and see…

we are also trying magnetic therapy…

he still has seizures and the ACTH worked but we had to discontinued because he developed high blood pressure and the seizures came back after a month…

If there is a potential treatment out there we will try it all… what doesn’t kill you makes you stronger (you can tell I am the father)

I will give everything for this beautiful baby boy and if he doesn’t get better one thing will be for sure that there is nothing I didn’t try to help him…
One thing I tell you… love your child because it is not his fault and he would do the same for you (actually, it is nobody’s fault) I think we all have been blessed and will have our reward in this world or the next.

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#28

I’ve been away and am just now getting to emails. My daughter is 20 years old. She was diagnosed at 2 years old. She was born 3 weeks early, weight 5 lbs, 13 oz. Her birth father was an a@#, and wouldn’t let me get her tested any earlier.
She had what I lovingly term “bionic hearing” as she started turning her head to track noises within minutes of birth. She hears extremely well. Her two older brothers were premature (5 weeks) and the doctors at first told me her delays were because she was preemie. She did not do the things the boys did at the early ages. She still needs assistance sitting by herself and rolling over. She is incontinent, although she does sign that she needs to potty, and is usually right. She doesn’t tell us every time she needs to potty.
When I first began to use the internet, she was a “tweenager.” What little I could find on pachygyria was the name Dr. Dobyns, and the symptoms. All I had was the MRI report, which is very sketchy. It doesn’t say what lobes are affected, or anything about severity. Elizbeth has not had seizures, pneumonia, or many of the other things that seem to classify pachygyria. She has also lived much longer than earlier predictions. She’s spastic quadriplegic, and non verbal. Her IQ was 56 the last time she was tested, which was 8-10 years ago. I feel she will score much higher now, greatly due to improved technology that has helped us to communicate better.
You can see from my posting and the others here that there is a broad spectrum of what to expect. Even with her limitations, Elizabeth is a joy. She makes us laugh when no one else can. Her own laugh is contagious. She makes everyone smile that comes near her. Most people think she has cerbral palsy. It looks like moderate CP. I think the only technical difference for her is that CP is brain deprived of oxygen, usually during the birth process, while pachygyria occurs during the first trimester of pregnancy. Other than that, it’s hard to know about the pachy.
Teresa

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#29

How do these kids typically do intellectually? Are their problems mainly developmental or intellectually as well? IOW, do they go to school? Graduate? Do any of them ever live on their own or do they all require full time caregivers?

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#30

kj, this varies, too. My daughter has intellectual as well as developmental disabilities. I expect miracles all the time, and it seems the more we require from her, the more she does. She will not get a regular diploma, nor will she be able to hold a job on her own. She will always need a full time caregiver. Some of the others will be able to do some type of work, and perhaps live with a roommate just to monitor them. It’s scary, especially when you don’t know what to expect.
My daughter only slept 2-4 hours at a time as an infant. She didn’t play with toys very well but loved to watch others, especially when they did silly stuff. She likes I Love Lucy and The 3 Stooges types of comedy. She loves watching Jon & Kate +8, A Baby Story, Bringing Home Baby, Extreme Makeover: Home Edition, JAG, NCIS, Reba and Disney Channel. So, at age 20, she likes what a lot of other kids her age like, but also “family” type movies and comedies. Scary stuff gives her nightmares. Her skills are scattered from age 6 months to 6 years.
Right now, focus on as much interaction as you can give her. Can she get PT, OT and speech therapies? Early intervention is really important. It will help you know how to help her, too. My daughter was about 1 when she started her therapies. It makes a big difference. Love on her, read to her, get on the floor and play with her. Even if she doesn’t grasp her toys, help her, and use her toys in her line of vision. She will love it!

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#31

kj, I realize your daughter is only 4 months old. It really is too soon to know what to expect. One thing I learned early is that the more we exposed her to and wanted her to do, the more she did. She went to a program by United Cerebral Palsy. Many of the kids were in wheelchairs. She wanted to be in her chair as much as possible. When she went to a daycare that had typical kids, she wanted out of that chair as much as possible. The more she interacts with typical kids, the more she wants to do like they do. Her caregivers take her out into the community and she loves it. She doesn’t like sitting around all day vegging out. As your daughter grows, you will see what she likes. Focus on that. Treat her like you would any other child. Expect certain things from her, and set boundaries. If our other children would get in trouble for screaming at the dinner table, she would try that. We would put her in “time out” for a brief time and then she was ok. Just like that 2 year old that tests limits, so do our special kids!

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#32

Shes in the Early Steps Program here. She is currently receiving PT once a week and is on a waiting list for a developmentalist. She’s nursing pretty well, so they aren’t getting her speech services quite yet. No mention of OT. They are talking about getting her in a vision program depending on the results of tommorrows eye doctor visit. She makes progress each week (more so in the interactive area and some in fine motor). I guess it really is a “wait and see” but that is just SO hard for me. If I knew what was ahead, I feel I could prepare myself for it better. Maybe not, maybe that’s just what I tell myself.

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#33

Great that you are starting her early with the program! I pray the visit tomorrow will give you a good prognosis. I wish some of the others would respond. My daughter is the most involved (as in the most severe disability) in this group, I think. There are wonderful stories of great things kids with pachy can do. Keep looking at the great progress she makes daily.
I don’t know if we can ever be “prepared” for what comes to us with this challenge. Yes, life is different from what you planned. But don’t let it stop you. We have taken many family trips and done many things with our daughter. We don’t let this stop us from being a family. Some are amazed that we do things. Well, are we supposed to sit home and do nothing? As long as she is able to go to the park, out to eat, go to special events, we’re doing it.
Live life to the fullest ability you can!

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#34

Received good news today! Rachel’s optic nerve is intact and her eye structures are good. More details on her visual field and all will have to come when she’s older and can assist a bit in the exam. Tracking is still delayed but she does she and she knows me when she sees me!

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pinned #36
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