Hi Hannah,

Thanks for writing back. It does so much good to hear from someone dealing with the same worries. 

Your son sounds a little like mine at that age, it took him much longer to walk and talk. Until quite recently, he was still drooling whenever he spoke. He talks now, but he still says things that don't make any sense and repeats a lot of the same sentences. Speech therapy has made a big difference for him in the last couple of years. 

I'll try to find the FB group, thanks for the tip.  

Hello Dejana,

Interesting to hear that your son is gifted in learning new languages. It gives us hope. Our son is 2.5 years old now but doesn't talk or read anything yet. Does your son talk yet? Physically, my son can sit on his own, cruise leaning on furniture, climb up and down sofa and bed, crawl and creep around the house, stand independently for 15-20 seconds. 

There's so little interaction here in this forum. It would be easier to interact in MPPH Syndrome FaceBook group. Would love to see your son reading English and French! xx

Hi all, I'm new to the community. My son is 5 years old now, and was diagnosed with MPPH 2 years ago. He was born with the characteristic large head circumference but it took a while to diagnose him with genetic testing. Like all your kids, he was very late in sitting up on his own, let alone walking and talking. He has suffered from seizures since 2019, which are getting more and more frequent. At the same time, he is really gifted in certain ways - he taught himself to read in French and English and is very good at learning new languages. Has anyone else noticed this with their kids?

We live in Switzerland and there are no known cases here, so we'd love to be a part of the community and talk to people who are going through the same thing. 

Hi, We have a son that is now 16 months old. He was diagnosed with MPPH syndrome some months back after we completed genome testing. We already knew before he was born that not everything was normal as we got indications of enlarged ventricles, large head and and extra digit during checkups.

He has global development delay, but is slowly making progress. By 16 months he is now able to sit un-assisted for short amount of time and he can army crawl to get toys that are right in front of him. It is good to see that step by step he is developing.

We are interested to get in touch with others that are on the journey with their child.

Hi. I have a son who is near to 2 yo next month. He was diagnosed with MPPH syndrome 5 months back through genetic testing. He is still crawling,  cannot walk ot stand by his own WITHOUT support. Complete non verbal only drooling. Globally delayed. We are seeing the early intervention program since 4 months and he's doing well. Would love to connect with parents personally whose children are now above 2 yo and how are they doing so far ? 

Hello, my name is Amandine and i live in Normandy in France. I've a little boy who has mpph syndrom. His name is Basile and he is 13 month. He doesn't sit alone and he doesn't speak. In my country, there is nothing about this syndrom It's a very very rare desease. I want to speak with people who have child like my son with this syndrom. I'm sorry for my english I don't speak very well. If you are ok I want to enter in your group on Facebook please. Thank you

Hi - I'm sorry to hear about your son's diagnosis. My daughter is 18 mos and has MPPH. There is a Facebook group if you're interested in joining https://m.facebook.com/profile.php?id=459569770779913&tsid=0.9593255908694118&source=typeahead Good luck! Sarah

Hello! I am new to this page, and our son is 11 months old and just diagnosed with MPPH. I was just curious to see if there were any updates as to how everyone's child is doing. None of our doctors can really tell us what to expect as far as his development, so I just wanted to see if anyone had any insight!

Thank you! We were initally diagnosed with just the PMG but the MRI findings came back saying MPPH is probable. Obviously we'll know more when he's here in a few weeks. Thank you for the info. I'm on the PMG FB pages so I'll be sure and look up the MPPH page.

Hi, There is a fab page on facebook with lots of info and support. Its under MPPH Syndrome. Let me know if your having trouble accessing it xxxx

Hi there! My son was just recently diagnosed with Mpph via fetal MRI. I just wanted to see how all of your children are progressing. How was the first year? I think we're moving forward with the c-section in 2 1/2 weeks. I'm pretty nervous and not sure what to expect.

We seen a Dr. Dobyns in Chicago who was heading up a brain anomoly clinical study. The last I heard he moved to Texas to study children with autism. We did go to a genetic doctor while we were in the initial process of finding out a diagnosis. Looking back I am not sure we really gained much knowledge from the genetic testing. The MRI and the neurologist appointments are where we gained the most information. After our first diagnosis of lissencephaly we went for a second opionion, which was a waste of time and money, as that particular doctor had no clue what we were looking at. Dr. Dobyns was our third contact and we are still unsure if the diagnosis, signs and symptoms truely fit our son. We just encourage him every day to do his best and pray!!

Mary, I enjoyed reading your story. I think I am on the other end of where you are though. Our baby is just now a year old. Since he was born he has kind of puzzled doctors as to what was wrong. We are still searching for a firm diagnosis as he does not meet the criteria for MPPH or MC-M 100%. So I am sorry to say I don't think I know any more than you already know. Can I ask who you saw in Chicago to get the diagnosis? My husband and I are wondering if we need to look for a geneticist who knows a little bit more about the syndromes they are considering.

Hi My name is Mary and my son, Ethan is now 5 years old. We reside in Michigan and since he was about 11 months old we had noticed developmental delays. We received early intervention services for OT, Speech and PT. I can tell you that, at 5 years of age, he is already proving himself. He did not walk until he was two, did not really talk much at all until 3-4 years and he currently has to be reminded to use sentences. His speech is not always real clear. He still drools as he has low muscle tone through out his body. Cognitively he is right in line with what a child his age should know as far as letters, numbers, opposites, colors, etc. Initially we were told he had lissencephaly. With the information we obtained online we just didn't feel it fit him. We took him to Chicago last year where the MPPH diagnosis was made. He also has a Chiari Malformation Type 1. We just took him for an MRI and there is signs of a reduction in cranial sachral fluid, but nothing to be concerned about at this time. As many doctors have told us, the future cannot be predicted, even with children who have no anomolies. We were told that Ethan's large head size may be the reason he is doing so well. Not sure what that is all about. Early intervention was the greatest program - if you have one in your state do all you can to take advantage of those services. We also went through genetic testing and had blood work sent for a clinical study. We haven't heard anything back, but the doctor told us he believed this syndrome to be the result of a new genetic mutation. I would be interested to know if any of you have received an official reason.

I am actually located in Utah. Where are you located at? My baby is 12 months as well. He just started sitting unassisted this week. However it is only for maybe a couple of minutes. He is no where close to crawling or walking as well. Our geneticist is looking at him having MPPH with MCM as well. However he does not have any capillary malformations. He also has not had hydrocephalus, just very large ventricles. My son currently sees a physical therapist twice a month, an occupational therapist, as well as a developmental specialist. He also see's a neurologist as well as orthopedic surgeon. I appreciate your link the the facebook group. I will try that and see if I can get some more help and answers as well.

Hi my name is bec my son Koby is 12 months and we have been told he could hav MPPH / M-CM. Where bouts are u located? My son has epilepsy and now has a shunt inserted in December he cannot sit unassisted and no were near crawling or walking! I hav started him in physio to see if it helps and I had got no info from Docs to go to one so I went of my own back and she said why didn't I come earlier well no one told me too!! Cause it is such a rare condition I don't think Docs know how o treat it :-( I hav found a great support group through facebook any questions I hav they are happy to answer them. This is the link: http://www.facebook.com/group.php?gid=127511855574&ref=ts hope this helps

I noticed this community had a few other members. Have any of you had any head way getting a firm diagnosis? Also how old are your kids? My baby turns one this month and I am trying to get a better of idea of possibly what the future holds for us. We were told there was a possibility our baby would not walk, just looking for any help or answers! Also have any of your docotors mentioned the combo of the MPPH syndrome with MCM syndrome?