Candice Lange

2010 Update: Recently upgraded and different diagnosis -Bilateral Perisylvian Polymicrogyria with Worster-Drought Syndrome. Finally, everything is coming together, and it makes sense. She still has some issues with eating and weight gain, but we are making progress. Speech and eating is her main issues, along with the dental problems.

5/2009 Mary's Story:

I was so interested in your story, as my daughter Mary also has Pachygyria, but not as severe as what is on the website. In fact, I could never find anything about HER condition, and got very depressed when I read about the others.

We just found out that Mary had Pachygyria in May 08. She was 5 at the time, 6 now, and will be 7 in August. It was strange because that was her third MRI, and no one picked it up before. I was so shocked and that diagnosis changed our lives forever.

Mary was born at 8 pounds 11 ounces, and I was induced 3 weeks early. She came out vaginally, but with her left foot smashed into her left temple, which pushed the poor brain-she had a huge hematoma in the pariental region of her brain on the right, and bleeding in her brain both sides of the occipital area. The doctors thought it was just positional, as my other three children "came out" normally with no problems. However, when I brought her home, I discovered that she wasn't eating right, and when we brought her to the pediatrician, we found out that she had no suck or gag reflex. So, she was admitted to the hospital and stayed for a week there for testing. She STILL had no diagnosis, but was a very floppy baby. We were given feeding supplies, as she had an ng tube, a heart and respiratory monitor, and only one nurse follow up visit.

Long story short, Mary was going off of the cerebral palsy hypotonic diagnosis, which gave her services until she was diagnosed with Pachygyria of the temporoocciptial area, which then cut her off of PT and OT. She receives speech at the local university, as I homeschool (this was the BEST thing for her and us, as we also were not eligible to receive a resource person for school, and the speech there was sporadic), and is not eligible for any other services. Mary talks (not very much, has expressive delays, and auditory processing disorder, but CAN communicate pretty good), walks (uses an orthotic with her left shoe, as her left leg is smaller and shorter than her right), and eats (still cannot rotary chew, and we have to watch the choking episodes, and does have some dyscoordination of swallow), and reasons pretty good. She is a wonderful reader, is learning how to write, but math is the greatest challenge. She is a cheerful, sweet girl with blond hair and big blue eyes, and a good sense of humor. It is sad because she does complain that no one listens to her, and I do find my others talking over her and finishing her sentences. Mary's hypotonia really affected her facial and eating muscles, but are getting better as time goes on. I personally think she is becoming more hypertonic, as she now has quite a strong grasp, and her tendons are showing through more.

I really felt connected with your writings about your son, and his medical journey. Everytime I go on the Lissencephaly websites I get discouraged. By the way, knock on wood, Mary does not have any seizures, which I am so grateful for, because I don't know how I would handle those. I am hoping it stays that way too.

I cannot tell you how excited I am to actually converse with someone who has a child similar to mine. I feel very lonely, if that is a good word to use, in regards to her condition. She looks "normal" so everyone's expectations are higher, and she is not so "disabled", so I have friends and family who just don't get it.. Even the doctors don't seem to know. Very few add their two cents or talk to me.

Bridget
lodge.mark@hotmail.com

You may write to Bridget directly if related to Pachygyria. Thank you.

[Update: 2009 Walsh Laboratory analyzed the MRI and said it was Perisylvian Syndrome. Waiting on Dr. Dobyn's review.]

As with most diagnosis, you put the pieces together later. Our daughter Jenna was diagnosed with Pachygyria and LIS in May 2008 after many tests. I want to share what we saw in the beginning and how things developed over time.

We had Jenna from day 10 of her life and she was legally adopted when she was 6 weeks old. The birthmother was 19 years, had one child at 16 (that her parents were raising) and did not have any prenatal care (said she did not know she was pregnant until 1 week before delivery). She smoked 2 packs of cigarettes a day and likely there was some drinking and partying going on.

She had normal birth weight (6lbs 6 oz, 19 inches) and APGAR scores. The thing we noticed right away was her abnormal sucking pattern—people would think she was starving because she sucked so loud and hard. She looked like a “Buddha baby” with large fat rolls all over.

The Pediatrician also noted she held her thumbs inward and said that usually was a sign of neurological issues, but not to worry. By the time she was 5 months old we had her evaluated by a Physical Therapist. She was found to have a mild right Torticollis and slight fine and gross motor delays. She drooled a lot, but since she was the 1st child we thought she was teething and it was normal. We saw a Physical Therapist for a few months to help her open her fists when crawling (Amy style).

She took her first step around 1 year but she couldn’t say Mama and her profound drooling continued. She was always smiling and friendly and cute, so we didn’t think anything was too wrong. At 1 ½ years I began to be concerned about her lack of speech so I took her for an evaluation by a Developmental Pediatrician. They did see delays and low muscle tone so we were referred for speech therapy (ST) when Jenna was nearly 2 years old. We had her hearing tested (which was fine). I began teaching her sign language. We noticed sensory problems—extreme reactions to loud noises, certain textures and things going over or on her head, so we got her into a special preschool for children with delays. At 2.5 years they started Occupational therapy (OT) since there was a lot of problems with using her hands (she held them tight).

When Jenna was 3 she started a full day developmental preschool with ST, OT and PT during the day. She still couldn’t suck (in a straw) or blow, or say any words and drooled excessively (even though all teeth were in). Her mouth is constantly open.

At 3.5 she saw another Developmental Pediatrician (the Chief) and she noted Jenna’s strange walking/running gate, low muscle tone (she has large folds of skin around her armpits/shoulders and her tummy is like bread dough) and problems with fine motor skills and referred her to a University Clinic for a week of diagnostic testing. She wanted intense sensory feedback and would put anything into her mouth but particularly liked sand, vinegar (salad dressings) and strong sweet flavors. She couldn’t chew and would not eat meat or vegetables that weren’t really soft. She mainly wants creamy things like yogurt and cheese. She was communicating fairly well using sign language, gestures and babbling (can say vowel sounds). We let her continue to have a pacifier hoping it would help her to learn to close her mouth and suck, but the dentist eventually advised against it and we had her give it up when she just turned 4 years.

In May 2008 she had an abnormal EEG, and her MRI images showed there were 3 regions in the brain that had pachygyria (where the gyria are flat and wide).

Her hearing, heart, eyes and labs were all normal. She had another abnormal EEG (sleep) but no signs of epileptic seizures. Her blood work was sent for DNA and Chromosomal testing to rule out LIS1 and LISX1, FragileX Syndrome. At that time her urine for sent for metabolic testing (CDG, Caritin, As VLCFA). These tests came back normal. Jenna had another abnormal EEG in Nov 2008.

In between all this there was a lot of waiting for appointments (that seemed far to far away) and wondering what Jenna’s life will be like. No one can say. The Pediatric Neurologist was very sensitive when he told us. He said he has only seen children will full pachygyria and they are not able to function independently, so Jenna is very fortunate. He told us that you never know how the brain can compensate in another part, so she may be able to still overcome some of the difficulties. He said she will develop epilepsy, it is just a matter of time (since the electrical system is affected by the pachygyria) and she does have mental retardation (how much we don’t know).

In April 2009 (she will be 5 in May) she is able to hold a pencil/marker and make shaky circles and hen scratch. She still has a lot of trouble grabbing things with a pincher grasp and will generally “rake” things or knocks things over as she tries to get them. She drools still but we have moved to kerchiefs (since they aren’t so baby looking as bibs). She will swallow when we tell her or wipe the drool away when asked, but does not get the sensory feedback on that. She still sits in a high chair with a plastic bib that has a lip on it to catch food and drink. She can drink from a cup if there isn’t too much in it; otherwise most of it comes out the sides of her mouth because she can’t swallow it properly. Her tongue won’t move food to the teeth so she puts her fingers in her mouth to move it (eating is usually pretty messy, also because she likes the sensory touch of food). Jenna is not potty trained. We think it may be like the drooling—that she doesn’t get sensory feedback to her brain and she doesn’t know when she needs to go. If we put her on a schedule she will pee in the toilet. The poop scares her and she has yet to do that (she wears pull-ups and diapers still). Her gross motor is affected too—she waddle runs and when she jumps she must pump her arms to get momentum. She can peddle a tricycle really well and enjoys bikes with training wheels. Her speech is probably the most affected by the pachygyria. She can say vowel sounds and a few consonants (like /m/s/ but has trouble with complete words. She makes the right intonations and syllables, but uses her vowel sounds. She still mainly uses sign language, gestures and her picture boards now. She is a strong willed girl and keeps pushing on, until people understand her. She is prone to melt downs, tantrums and defiance. I chalk most of that up to the frustration of not being able to control her body the way she wants. We love her and hope that she can learn to have a more normal life, but only time will tell.

Please feel free to contact me with question or in need of support
Krista doublemomATgmailDOTcom

In 2006, Corey was diagnosed with paracentral pachygyria, a mild form of Lissencephaly through research studies done by Dr. Dobyns at the University of Chicago and Dr. Walsh and Dr. Chang at the Walsh Laboratory using his MRI film taken in 2005 after a series of seizures.

We knew Corey had a brain malformation from his first MRI done in 2001. At that time the doctor did not show us the MRI and said Corey had mild hypotonic Cerebral Palsy and by the time he was 8 no one would know the difference.

Several years later a different doctor showed us the MRI for the first time and explained that Corey had "fewer folds" and that it could lead to some form of mental retardation but was not sure to what degree. We were concerned with treating his seizures and held onto the hope from the first doctor's outlook. Corey did not seem like a child with mental delays only speech and motor delays. Other therapists said he was smart and those who took the time to listen to him.

In 2005 when the second MRI came back another doctor said nothing had changed from the first one but the words had changed and described "many folds". It also had the description of Perisylvian Syndrome, which was new to us. Our current doctor had not seen Corey's brain malformation before and said it was rare.