Mary – Another Reason to do an MRI

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.

Mary’s previous and current diagnoses up to 5/2009:

Global Development Delays (previous and current)
Jaundice (previous)
Left lower extremity hemiparesis (previous and current)
Right upper extremity hemiparesis (previous and current)
Hypotonia throughout body (previous and current)
Torticollis of the neck (previous until I adjusted it-I am a chiropractor)
Hyperextensive joints (previous and current)
High arched palate
Dental cavities, as Mary was unable to open her mouth fully (previous-currently, she has been able to open her mouth better)

Feeding difficulties complicated by decreased tongue movements, overall oral motor weakness/hypotonia, tight jaw muscles and ligaments, oropharyngeal weakness, poor coordination of swallowing, and no rotary chewing movements. This diagnosis is current, however, she has done much better, especially in the last year with her feeding. We had a feeding specialist/therapist who really helped her out. We are using tongue depressors stacked together to stretch out her jaw area, as she was unable to open her mouth previously. When she was a baby, I used to take the rubber tipped spoon with my left hand and pry open her mouth by moving the spoon to the side, and then with my right hand hurry up and shove some baby food with the other spoon-this was because she could not open her mouth, and I refused to tube feed her!

Small jaw (micrognathia)-previous and current; her jaw has grown out, but is still small. She is so cute and looks like she has a little overbite, but it really is due to her small jaw.

Mild indentation of the temples (mostly noticed on her baby pictures-the funny thing is, I thought it was because she was a skinny baby, but then I had read somewhere that that is seen on babies with pachygyria/lissen.)

Failure to thrive-diagnosis given when she was a baby and toddler-I always hated this one.

Hyperreflexia(previous and current)-Mary’s lower left and upper right reflexes are more brisk than normal, however, even though they are still mildly hyper, they are less hyper than when she was a baby and toddler. A few doctors have told me that she will become more contracted as she gets older. I have seen some of her muscles less hypotoned, and almost become “normal” but time will tell.

Mary has always fallen and tripped frequently, and recently (April 2009) she was diagnosed with optic nerve atrophy, and with blindness in the right lateral vision field. The doctor said there is definintely no cure, as optic nerves do not regenerate. As time goes on, we will see if it progresses, or stabilizes. She will always be blind on that side.

Drooling and difficulty handling secretions (previous)-she is actually doing very well handling her secretions, and only drools at night, so we cut her hair into a bob (which looks cuter anyways) so she doesn’t wake up to the rat’s nest in the morning!

As a baby and toddler, Mary was very, very immature with food-she would play with it, and throw it, and was very messy. She was not able to use a fork or spoon until about a year ago.

Speech delays and difficulties (which goes along with the oral/pharyngeal weakness)-Mary did not talk until she was three, and only then did she know about 10 words. Currently, Mary talks pretty good, but misses a lot of pronouns or linking type words in her sentences. She will not talk if someone is not listening to her and making eye contact. We all still have a hard time understanding some of the things she tries to say to us, and she will get frustrated).

Mary is potty trained, but we still use a Pull-up at nights. She has been dry for 7 nights, which is a cause for great rejoicing around here! She still needs help wiping with #2, and refuses to go alone to the bathroom due to the recent earthquakes we have been having.

Mary’s strengths: great reader, friendly, cheerful, energetic, sensitive, and funny; loves to help around the house and keep busy.

Challenges: Auditory processing disorder, speech and expressive delays, difficulty chewing and processing the bolus of food, attention deficits, mild hyperactivity, and math is very difficult to understand for her. Mary also overstuffs her mouth with food, and is prone to respiratory infections, which are very hard to overcome. Thank God we have not had one in over a year. She is unable to give a good, hard cough when sick.

I am sorry this is somewhat out of order, but I went along my notes in her care notebook. Since the optic nerve atrophy diagnosis, I wonder in the back of my mind what is next.