Pachygyria is a congenital malformation of the cerebral hemisphere causing developmental delay and seizures.
Pachygyria is a neural tube defect. One of the causes of Neural tube defects are abnormal homocysteine levels in the mother during pregnancy. My family history is this-maternal grandmother had a stroke in her 40's. 2 of her daughters (my mom and her sister) had strokes in their 40's. My sister had a fatal heart attack at age 42. 2 of my other sisters have abnormal homocysteine levels, and treat it with b complex vites and folic acid, I believe. My sister who died of a heart attack's oldest daughter has MTHFR, which is a genetic thing with abnormal homocysteine levels. The website below gives some pretty good information. I know they found this mutation by doing a genetic test, so it is likely that my 2 sisters have the mutation(s) (there are 2) as well. It's probably a good idea to get tested. One of my sister's with homocysteine issues grand daughter had a stroke some time between birth and 3 years old, and yes, it has been found that she also has the MTFR mutation. http://en.wikipedia.org/wiki/MTHFR I'm sure there are other causes, but my family history has been riddled with homocysteine issues. If you have the opportunioty to get checked, you can either have the genetic test for the MTHFR, or a homocysteine challenge to check your levels.
I've often wondered what causes pachygyria as well, but the only answer I got was that "it just happens" and was probably around 12 weeks gestation. That is all I have been told, and can't find many answers either.
Just for an update...we saw a Urologist and she ordered an ultrasound and x-ray of my daughter's kidneys and bladder to make sure there wasn't anything wrong that may be causing her to not feel when she has to urinate. Those tests were normal!! :o) She also referred us to a Gastroenterologist which we are seeing tomorrow so we can get some help with her bowels. She is still in diapers, still has no interest whatsoever in using the toilet. She'll be going into Kindergarten in the fall and I'm just so scared for her that she'll be made fun of at that age. Please keep the prayers coming that the doctors will be able to figure it out and she'll be out of diapers soon. I'll continue to pray for all of you as well. Just out of curiosity, does anyone know what causes Pachygyria? All I know is it happens during the first trimester.
My son is 13 and has pachy, he's had seizures since birth. Medicine helps but he seems to be having them more frequently. His neurologist has suggested a vagus nerve stimulator. He is nonverbal and it is so hard to know how he is feeling. Sometimes it's hard to make a decision and not know if it's the right thing to do. Can anyone give me input on this device?
Hunter has not been doing very well he has not met his milestones the seizures have been a lot worse since August. Hunter has a seizures syndrome called Otahara Syndrome it is very resistant against all seizures meds. Hunter is on 5 seizure meds and he still has 2 - 4 seizures a day. Right now we are working with Palliative Care (The Wings Team) since Hunter has not been doing very well. So as of now we are hanging onto every moment with our little guy he is now 11 months we almost lost him when he was 9 months so glad we got to spend his 1st Christmas with him. Please check out updates on our little Hunter at his Caringbridge http://www.caringbridge.org/visit/hunterisaacson Samantha Isaacson
Sam, I'm wondering how your son is getting on now? Our son was diagnosed shortly after birth. He's now 10 months. He's siezure free and like your soon seems to have perfect hearing and vision. He's not yet able to sit unaided (throws himself back and doesn't find his centre) but he is very interested in his environment, reaching out for everything, passing objects between hands. He's happiest on his toes bouncing. I'm interested to know if other pachy babies reached the sitting milestone?
Hi Sam, My daughter, who is now 22 months old, started having seizures at 2 months old and wasn't diagnosed with Pachygyria until 1 year old. Her seizures were mostly under control by 1 year old. She did ok with her milestones until around 5 months old. But is now delayed. Her hearing is fine, but her vision is impaired, but improving. I hope your son continues to do well. It seems like the past two years have just been "wait and see how she does" - no one knows what to tell you what to expect, which is very frustrating. Good luck to you guys Amy
Hello, I'm new to this discussion board, but I am not new to the pachygyria disorder. My stepson, Michael, was diagnosed with it when he was 2 years old. He is now 7. Since then, we have done the best we can in seeing that he receives continuous and excellent therapy. However, we are still experiencing difficulty with his eating. He doesn't chew very well, and swallowing is very difficult for him. We currently puree his foods (and at least once a day try more textured foods in trying to help him develop the skills necessary to eat), but in general, he doesn't get as many calories in a day as he should receive. We supplement his foods with pediasure, but I've never seen him eat more than a cup of food at one sitting. Sometimes, when he eats a cup of food and drinks some milk, I'll think, "Wow, he's doing great today!" and then he throws it up. It's frustrating, to say the least, as it takes a long time to get him to eat anything more than one or two bites of food. His therapists are also experiencing similar issues with him. I am very concerned that his lack of nutritional health is actually hurting his ability to improve. Are there others dealing with this issue? How have you overcome it? What meal plans are you using? If I could just get Michael to eat, then I believe I could be much more hopeful about his future.
I found this link very informative. Many people are confused, even after they see specialists, because so little is known about pachygyria. This link provides alot of information about it. Many people don't know about the different levels of involvement, and this link explains them a bit. I used to belong to a yahoo group that closed down, but there was a girl who belonged to the group, and she had pachygyria. I found her to be a source of hope and inspiration. Her name is Sarah Dunion, and I'm working on getting in contact with her. She lives in the New England states somewhere, and she is an advocate for those with disabilities. I want to try to post some links of hers, and maybe see if she will come on board here.
We (My grandson Bradley and his momma Summerallyear) are from Lancaster County, and Bradley was diagnosed at St. Christopher's in Philadelphia.
Hi Meemaw I just saw that you are from Pennsylvania as well. Is that where your grandson lives. We are from Pittsburgh, just wondering if you were from this part of the state and if your grandson went to Children's Hospital in Pittsburgh. Amy and Olivia
Hi, Mom!!! ;-) I haven't gotten a chance to write here yet, but I'll get to it soon. To those of you who are wondering what the heck is going on, "Mee-Maw" is the grandmother of my son who has pachygyria. My son's name is Bradley, and he will be eight years old this summer. Bradley has two younger sisters who are five and three, and I believe he's a typical big brother to those girls, as he's very protective, but also the one who picks on them. LOL. Anyway, Bradley was diagnosed with pachygyria when he was eight months old and has been receiving occupational and speech therapy since then, as well as speech therapy since he was two years old. Bradley also has epilepsy, although he's only had one pretty bad seizure, the EEGs keep coming back abnormal, so he's taking medication to help prevent any further seizures. Anyway, Bradley is a very active boy, and although he struggles with math, reading, writing, and some physical activities, he's probably the most loving and active boys I've ever met. He loves watching football and hockey (Eagles and Flyers :-) ), playing video games (typical eight-year-old boy thing), and absolutely LOVES playing outside... doing anything, really. He loves riding his scooter, playing anything with a ball, running, and helping with yardwork... imagine that! He's a wonderful helper, and feels great pride in his accomplishments. Bradley is also a Tiger Cub Scout and plays t-ball and coach pitch baseball in the spring. We try to keep him active and involved with other kids as much as possible, and he seems to be very well known at his school. These things were once a HUGE worry of mine... and I'm so very thankful that he's been able to fit in pretty well even with some of the setbacks he's had to and continues to face. Anyway, I've got more I could write, but not enough time at the moment to do so. Thanks for welcoming me to the group!
Hi Summerallyear ! Welcome to the Pachygyria group !
hi, Amy....do not despare....you are doing all the right things. keep her in therapy as it helps your little one and you too. it is nice to hear them say that she is improving, since we tend to need to hear it from someone else. my grandson is 2 and a half. he progresses daily and is truly a blessing. God has plans for these little ones and with the love and support from families they are able to be all HE intends them to be. mason will start school next school year PPCD. we have an awesome one here at the school that i teach at. God Bless.
Hi, my name is Amy and my 17 month old daughter Olivia was diagnosed with pachygyria at 1 year of age after having seizures since 2 months old. Both hemispheres of her frontal lobe are affected by the pachygyria. After an extremely difficult year, the seizures are finally mostly under control and she is doing pretty well. She is delayed, but gets therapy and tries very hard. She is continuously progressing, but very slowly. She is pretty wobbly and seems spacey alot, but I sometimes attribute that to her 3 seizure meds. I would love to talk to someone who understands what we are going through. Thanks
I am a grandmother of a beautiful 11 month old boy soon to be a 1 year old in Oct. He has been diagnosed with pachygeria. He doesn't sit up alone yet, makes sounds, loves peek-a-boo with family. Giggles and is very attentive. We have been told he is deaf as well. He doesnt eat any cereal or baby foods. Gags and cries and has difficulty in swallowing other than breast fed milk. Very happy and quiet baby. Don't know what the future will bring for "Mason Ray" but we love him dearly and hope to help him overcome his difficulties, and disabilities as much as possible as he grows. He is still very small, about the size of a 5-6 month old. Would like to hear from others with this affliction and how you cope with it all. My son and wife are trying their best. He is working with early intervention with therapists to help him progress. Any information on this rare disorder and any helpful information on this subject would be greatly appreciated. There seems to be so little about it available except for technical medical. Something that the average parent and grandparent can understand is more helpful.
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