I have two beautiful daughters. One is diagnosed with Cerebral Folic Defiency Syndrome (metbolic disorder), and the other has RSD(reflex sympathetic dystonia)/COmplex Regional Pain Syndrome. Looking for folks with children who may have the same. Thanks!!!

I am a mom of fiv wonderful kids and we're expecting again. When I was pregnant with my second youngest daughter Avighayíl the diagnosis was Down Syndrome and my OB was trying to convice me to abort. Being who we are that was not an option. After five more months Avi was born in the back seat of the minivan at 3am on the way to the hospital. 100% healthy baby. In this pregnancy, the diagnosis has quita a wide range. From being told at 12 week USG that baby has no heart (!!!!!) which as was later found he does but on the right side, that there is no arms, again false, to finding out that he has HPE ( which originall was described as missing brain) By now you probably think that I must live somewhere strange. No. Am in Toronto, Canada, about 40 min drive to Sick Kids Hospital, one of the most advanced medical centres in the world. Every time that I the OB he seems surprised that am still pregnant(29 weeks + 1day. Originally i told that pregnancies like THAT(whwtever that means)dont go past 14 weeks. Then 18, then twenty. At about that point I told them that am not intreasted in "doom and gloom" and my little guy keeps hanging there with me. As a part of one of the appointnent was meeting with neonatologist who basically asked if I planned to feed the baby after birth. I could not believe my ears. Her explanation was "we usually dont feed babies like THIS, because it just prolongs things".
So, to sum it all up I have learned one thing for sure; the diagnosis is nothing. There is a lot of tests of there, but ultimatelly its not the test but the interpretation which in any case is done by a human being who is prone to mistakes and sometimes those so called proffesionals to whose every word we hang are not even up to date with the current advancements in the field which for us, parents can be devastating.

I'm a mommy to three, and my son was born 15 months ago with hydranencephaly. Although the exact cause is unknown, ultimately he suffered a stroke while in-utero which damaged his brain and replaced most of his cerebral hemispheres with sacs of cerebrospinal fluid, he essentially is living with his brain stem and a much smaller cerebellum. We were told nothing optimistic about the pregnancy, the birth, his life...however, we've since found nothing but wonderful thorough online support and loving family and friends. He had a VP shunt placed at one month old and has continued to wow the world with his miraculous strength, is not on any regular medications...he is globally delayed and involved with Early Intervention, Occupational Therapy, Physical Therapy, and Speech Therapy.You can follow his journey at: http://www.caringbridge.org/visit/braydenharper and learn more about hydranencephaly and other issues our family faces in regards to living with an extra special child: http://hydranjourney.blogspot.com

Hi I am a mother of 3 wonderful kids. Well, five years ago Christmas,we found out our 3 day old baby girl has Agenesis of the Corpus Callosum. We were lost we never had hear of such a thing!! We didn't like what the doctors had told us ( she would die, never going to walk talk or live a "normal" life) Well a few months later after we had begun therapy for her we found out she would never be able too see!! We were crushed!!We got a second option in Morgantown WV and finally got some good news that she would not 20/20 but able to see!! Well now almost five years later after all the sleepless nights, doctors appointments, feelings of neglecting my other 2 kids , tears , fights with everyone trying to avocate for her needs! She's walking, talking, she not what the doctors would call "normal" which I hate that term!! It's been rough but we still here trying everything to make her independent! We aren't going to be around forever so that is my number 1 concern!!

Hi Im a mom of 4 three boys and a baby girl.
My 2nd son Tyler was diagnosed with Ocular Albinism and is considered legally blind...my 3rd son was born with a condition called aortic stenosis and had open heart surgery when he was 4months old and my baby girl was born premature and has the PVL...so far she seems to be on track and is only 4 and a half months old...

My second daughter is 16 months. She
has HIE (hypoxic ischemic
encephalopathy) from a true knot in her
umbilical cord. She has lots of delays,
but has continued to make very steady,
if slow, progress developmentally. She
probably has CP (our dev ped doesn't
like to diagnose until age 2). She has
oral motor issues, and difficulty
eating, which has been the biggest
stressor for us, as it is a daily
challenge. I truly believe that she
will overcome these early difficulties,
but either way I love her to bits!

I forgot to add that he has also was diagnosed with CVI

I am a married mum in the uk, with a 4 yr old daughter Jessica who has no impairments even though she has had 5 eye surgeries already due to a blocked tear duct, thankfully she is OK now and discharged from hospital clinics!! apart from genetics clinic via Owen who is my 6 year old son, who has A.S.C (Autistic Spectrum Condition), Dyspraxia (which is to do with balance and co-ordination) and a lot of toileting issues (he is still in nappies as he soils himself a lot due to not much language skills. Despite fighting for a diagnosis for 5 yrs and a statement of special educational needs for 3 yrs, he is still at a mainstream primary school with Jessica and gets 22hours 1-1 ta (teaching assistant) with him everyday almost 5 hours a day every week! He is now progressing even though he is in yr 2 he is still working at nursery level which is good for him as at his old nursery they didn't help him at all they just told him to 'muck in' and he will cope! he was still baby babbling here (he didn't progress with his speech or education until he moved to his current school,) he can now say 2 word sentences even though you have to really tune and listen to him!!! His little sis Jessica helps him a lot and teaches him in her own little way too!

Hi~
Our daughter was born healthy but after not dirtying her diaper for 24 hrs in the 1st week of life, we began a 2 week inpatient stay at two different hospitals to get a diagnosis. We were initially told she a SMA (fatal) and to not expect her to live till Christmas (she was born in July). Several weeks later we were told she didn't have SMA, but did have Prader-Willi Syndrome. The field of special education can be so confusing with acronyms, state laws, federal laws, and trying to figure out who the best local FILL IN THE BLANK: OT, PT, SLP, ETC therapist is to serve your child and family. I have been a special educator for 10 years and am so blessed to have a child who is part of my passion as a career. I would love for my daughter to not have to deal with a disability, but I know she will be given the best life possible. I thank God for her and her brother, each of whom are blessings from heaven.

Hi Devon just read your story a memeber of my family wasnt diagnosed with a cor c ollusum till he was 60 hes only had very slight learning difficulties i was very shocked to hear what the docs had told you . send my best wishes to you all. My son has severe Autism.

We found out December 28th that our little girl would have Spina Bifida. I am now 27 weeks and part of a Study at the University of San Francisco. MOMS. I had prenatal surgery on January 28th to close the whole in her back. I'm a little anxious and nervou to find out what my little girls disabilities will be. Its the unknown that makes me so scared. We'll know in a few weeks when this little angel comes to our family.

My 2 year old was diagnosed with Trisomy 21-Down syndrome-shortly after birth. She had two small ASDs that were closed June 25, 2009 without open heart surgery. She knows over 100 signs, and is extremely motivated and strong.

looked like a normal little boy. So with this, they took the diagnosis away as they also are unable to find any hormonal imbalance also. They also stated that the MRI could be consistent with a child who has Periventricular Leukomalacia. Our neuro said this may be the case and he may have CP....but, we have been getting "may haves" for about a year now. I spoke with our Neurologist on Jan 27th, and stated that I felt that PVL was a very broad, and not necessairily, "the diagnosis" for Beckett. He has been very good with us but we felt at that point he didn't really have a specific direction to go. I questioned whether it was possible that he may have some type of metabolic disorder. At the time he didn't think so. He agreed to repeat a sleep study, epilepsy monitoring and an MRI this last week of Feb. March 1st, we met with our GI and our Neuro as Beckett is gagging and continuing to vomit following GJ tube placement Feb 26th. Both Drs admitted that we are just now trying things...that we just don't know with Beckett. March 1st our Neuro gave us the results from the MRI on Feb 26th. He said that while the brain has not degenerated, it has not progressed and looks similar to the MRI of around a year ago. He then stated that he is now "not entirely convinced" that Beckett has Periventricular Leukomalacia and is questioning whether or not he has metabolic issue. Beckett has a definite personality and just seems to be so misunderstood. I have been told by many people, including some professionals, to not expect any miracles and that I need to just settle for managing the symptoms. My entire life all that I wanted was to be a mom. So, it is hard for me to "settle" for anything. I have created a group on Facebook, "Find a Diagnosis for Beckett Allen Petersen" and would love you all to join and spread the word! The more people that we reach, the closer we are to some answers!

Howdy !

I am a mother of four. My youngest, and our surprise caboose has been an entirely different journey of parenting.

Ethan was born septic with a type of flu. This started a snowball effect that lead to the use of ECMO, Grade III & IV bi-lateral brain bleeds-- ect. He is deafblind, has sever CP, and global developmental delays. He is six and is a total charmer. He has an amazing smile and keeps us all on our toes.

Our three older children are adults and living independently and are a huge support to us.