Jessica and Chelsea Savage
Lissencephaly is a rare brain malformation in which the surface of the brain is smooth rather than full of ridges and valleys (folds). It results from the inability of nerve cells to connect with one another to reach the surface of the brain due to the nerve cells being stuck in an abnormal position. As a result, the layers of cells in the cerebral cortex are found to be abnormal. In a typical brain, the cerebral cortex is divided into six distinct layers, whereas, the brain of an individual with lissencephaly has only four.
The first documented case of lissencephaly was described in 1914 where physicians found that the children had a thickened cortex with thin white matter, reduced or missing cortical lamina, and lacked an orderly arrangement of cortical neurons. Other cases were described in the 1960's, including Dr. Millers observations of siblings with the disorder (indicating a possible genetic link) and Dr. Diekers, who observed two siblings and a first cousin with lissencephaly (giving credibility to the hypothesis that there is a genetic link).
In 1977, researchers identified an anomaly on chromosome 17 that corresponded to the lissencephaly phenotype. By 1983, a microdeletion at 17p13 was found to be a genetic cause of lissencephaly. However, Dr. William B. Dobyns, a lissencephaly expert, says there are other causes of lissencephaly as well, such as viral infections of the baby during the first trimester and an insufficient flow of blood to the brain during the first trimester.
Features and Characteristics
There are several different disorders associated with lissencephaly, however, the most common are Isolated Lissencephaly Sequence (ILS), Miller-Dieker syndrome (MDS), and Walker-Warburg syndrome (WWS). Following is a list of common features found in each of the three syndromes:
Isolated Lissencephaly Sequence
- Subtle facial abnormalities (mild indentation of temples and small jaw)
- Severe to profound mental retardation
- Abnormal visual tracking
- Poor head control
- Feeding problems
- Increased risk of pneumonia
- Shortened life span
Mental Retardation - There are basically two developmental levels found in children with ILS. Developmental level 1 represents children with profound mental retardation. They are floppy, have poor head control, have inconsistent visual tracking and are not able to roll over. Developmental level 2 represents children who reach a developmental age of 3-5 months. They are less floppy, have social smiling, have good head control, can reach for objects, can roll over, and may even learn to sit.
Seizures - Most children with ILS have seizures which begin in the first year of life. Children have many different types of seizures including infantile spasms (which do not respond to typical anticonvulsants). Other types of seizures can be controlled, although not completely, with typical anti-seizure medications.
Feeding Problems - Some infants are able to feed normally, while others have a weak suck. The feeding problems occur or become worse as the child becomes more stiff. The child may choke and gag, refuse to eat, and may spit-up (most of which is caused by reflux).
- Characteristic facial appearance (broad and high forehead, subtle indentation of the temples, slightly upturned tip of nose, thin upper lip, small jaw)
- Profound mental retardation
- Feeding problems
- Recurrent pneumonia
- Shortened life span
- Heart defects and other abnormalities affecting the kidneys and other organ systems
Children with MDS are similar to those with ILS who are considered to be at "developmental level 1." They also have similar types of problems with seizures, feeding, and recurrent pneumonia as those with ILS.
- Birth defects of the cerebellum
- Severe to profound mental retardation
- Birth defects of the eyes (causing poor vision)
- Unusual type of muscular dystrophy
- Weak breathing
- Poor head control
- Feeding problems
- Cleft lip, cleft palate
- Shortened life span
Mental Retardation - There are varying degrees of retardation in children with WWS. For those with the most severe form, children make essentially no developmental gains. They are very inactive and floppy, have poor head control, and are frequently blind from eye abnormalities. Those with mild WWS, however, can reach "developmental level 2," as described in the ILS section, while some have even learned to walk and talk.
Birth Defects of the Eye - Eye abnormalities are often severe and result in poor vision. The retina does not develop or function properly, the outer covering of the eye may be cloudy, the lenses may have cataracts, and the eyes may not drain properly, resulting in glaucoma.
Muscular Dystrophy (MD) - All children with WWS have some form of MD. For children with severe cases of WWS, the muscle disease may go unnoticed because of the other medical problems, however, in children with a mild form of WWS, children get weaker during later childhood.
Lissencephaly is usually diagnosed with the use of an MRI or CT-scan of the brain. For those with a clinical diagnosis of ILS or MDS, a FISH probe is available to detect deletions (or missing pieces of genes) on one of the two number 17 chromosomes. For those who have no deletion on chromosome 17, they may be able to participate in research studies aimed at finding genetic mutations which are also responsible for causing ILS or MDS.
As with any brain malformation, there is no cure for lissencephaly. However, medication is available to control seizures, and occupational therapy and/or medication may be helpful for those with feeding difficulties (although a G-tube may be necessary). For those with hydrocephalus, a shunt can be inserted. Aquatic therapy may be useful to treat stiffness (spasticity) and conventional physical therapy may be used for improving gross motor skills. In terms of providing an education for the child with lissencephaly, if the child is considered medically fragile, he or she is entitled to receive a free and appropriate education in the home.
What to Expect
The prognosis for children with lissencephaly varies depending on the malformation. Many individuals remain in a 3-5 month developmental level, while others may appear to have near normal intelligence and development. Some children with lissencephaly will be able to roll-over, sit, reach for objects, and smile socially. Aspiration and respiratory disease are the most common causes of illness or death. The life expectancy is said to be around two years of age, however, many children live well beyond that age, as you will see when you read the personal stories below.
Jessica was born on June 11, 1992 (7 years old) and Chelsea was born on March 8, 1994 (5 years old). They were both full term (not premature) babies.
At 2 weeks of age, Jessica became extremely irritable and fussy, and was crying and projectile vomiting all the time. The doctors thought she had colic, so we tried every formula that existed, but it did not help.
At 2 months of age, a brain scan (CT-scan) was performed on Jessica and she was then diagnosed with hydrocephalus (water on the brain). Fluid was building up in her head and putting pressure on her brain, causing additional brain damage (cerebral palsy). Her doctor, a neurosurgeon, installed a pump (VP shunt) inside her head/brain to drain the fluid into a tube that runs from her head, down her neck, and into her abdomen, where it can be absorbed and discarded from the body. When I was pregnant with Chelsea, a sonogram was done on me at 5 months of pregnancy, to confirm that Chelsea also had hydrocephalus. A VP shunt was not installed until 10 days after she was born.
Jessica has a severe problem seeing, but with her past vision therapy and eye glasses, it appears she is seeing much better, but no way near normal. She is extremely nearsighted (myopic), has crossed eyes (strabismus), and the back of her retina is very pale (no blood vessels). We notice that she still has trouble judging the distance of objects. Chelsea has all the same eye problems, but in addition, she has microphthalmia (small eye) right eye that had a retinal detachment, so she had 3 surgeries on this eye, before she was a year old, to help the retina reattach. She can only see light and shiny objects. Both girls are legally blind.
Chelsea began having seizures, where the 3rd one lasted over 3 hours (prolonged or status epilepticus). The hospital then performed an MRI scan (extensive brain scan) and found she had lissencephaly (smooth brain) and other brain abnormalities. A muscle blood test (CK) was taken and found to be abnormal, along with a muscle biopsy to confirm she had an unknown muscle disease (muscular dystrophy). Jessica also had an MRI scan and CK test to confirm she had the exact same abnormalities. Jessica has only had 3 seizures and they only lasted about 15-30 minutes each, but she turned blue due to lack of oxygen. Only Chelsea has been put on seizure medicine (phenobarbitol).
Jessica has tightness (high tone) in her arms and her feet turn inward, of which, is known as cerebral palsy. Jessica has had many surgeries to try and straighten her feet, from heel cord lengthening, Botox injections (injection of a poison into the muscles in her legs to break down the nerves around the muscle, so the muscle relaxes, and the foot can straighten), Rhizotomy (cutting the nerves, at the base of her spine, that trigger the tightness in her lower legs and feet), and a posterior tibia relocation (moved the tendon on the inside of her foot to the outside of her foot), inhibitive casting, and use of a Neuromuscular Electrical Stimulation (NMES) unit to try to straighten her left foot. She has also worn AFOs all of her life. Chelsea only has tightness in her right arm and her trunk is extremely floppy (hypotonia).
When Chelsea had her MRI done, due to the prolonged seizures, is when we finally got a diagnosis. Jessica was about 3 years old and Chelsea was 2 years old at this time. They are diagnosed with a very rare muscle brain eye disease (MEB), also known as Walker-Warburg Syndrome (WWS). This syndrome includes hydrocephalus, lissencephaly, other brain abnormalities, eye problems, and a muscle disease. We have found a doctor, Dr. William B. Dobyns, in Illinois, that is studying the disease the girls have. The doctor has taken blood samples from Jessica, Chelsea, and both parents to study for the next 3 years. They have discovered the MEB gene, of which, currently maps to chromosome 1 p34-32, but the WWS gene is currently being researched to determine if it is similar to the MEB genes or a completely different chromosome and gene.
The hydrocephalus, abnormal brain, eye problems, and muscle problems are all causing the girls to be delayed in their motor skills, along with delay in their speech. Both girls have been receiving vision, occupational, speech, and physical therapy, ever since 3 months of age. Both girls attend a ½ day, 5 days a week, special education class at the Lago Vista Elementary school in Texas. They both first learned to communicate with sign language (all done and more). They can shake their head yes and no, and they can say "mama." Both girls can roll over. Jessica can sit by herself for about 2 hours, but she gets very tired and will fall over. Chelsea can walk in a gait trainer (support around the trunk), but has no interest in sitting by herself. They can both feed themselves finger foods, but need help with soft food and drinks.
We belong to the Lissencephaly Network where we receive a quarterly newsletter about other children like ours. It doesn't cost anything to join and the newsletters are great to receive, and lots of times contain pictures of children like ours.
Please contact Dr. William Dobyns if you're interested in a "confirmed" diagnosis of WWS or MEB and would like to help out with the genetic study. Also please call the Lissencephaly Network for your free quarterly newsletter. - Brenda Savage
Our angel was born on September 6th, 1997. Stephen (pronounced Steven) is almost 2 - he is purely a blessing! He was diagnosed with lissencephaly at 5 months of age after he began having grand mal seizures... terribly ugly seizures. He was diagnosed the next day (February 13th - Friday the 13th). It was so very hard in the beginning... the first month afterwards, I just watched him and waited for him to die. It seemed nothing would keep his seizures under control; we were literally in the hospital for a month and a half in the beginning because we couldn't control the seizures. It turned out that Stephen was also having infantile spasms so his neurologist (WONDERFUL doctor) tried Dilantin and ACTH injections for 2 months. Stephen went about 5 months without any type of seizures whatsoever. Then, right before his 1st birthday, Stephen started having some seizures AGAIN. They were infantile spasms again, so we put him back on the ACTH at a higher dose. The spasms went away, but he had terrible side effects from it such as high blood pressure, crankiness, major weight gain, and constantly wanting to drink.
He has been off of ACTH for about 7 months now - his blood pressure is still elevated, but he is happy. At the beginning of January, we had another EEG done because Stephen was having about 30 seizures a day. AGAIN, he was having infantile spasms. My husband and I decided on no more steroids, so we tried Topomax and it seems to be working well. Stephen still has a few seizures here and there, but they are "liveable." Stephen is currently on Dilantin and Ativan for seizures. He also takes Propulsid, Zantac, and Lactulose.
The beginning was so hard - I thought my world had ended. There I was, 22 years old, my first child whom I loved more than anything, and all I could think about was him dying. I cried and cried and felt sorry for myself for the longest time. I never ever thought I would get used to the seizures, or the paranoia of Stephen getting pneumonia, or him getting a cough. I would always "freak out" over the littlest things. But as time went on, I guess I just adjusted to all of it. It still bothered me when I saw other kids Stephen's age that could do so much more - I hate to say it, but I often felt like I was missing something - that it wasn't fair for my child to have to "be like this." Don't get me wrong, I love Stephen, but I realize it is normal for any parent with a disabled child to feel that way sometime or another.
Stephen was fitted with glasses and people ALWAYS would stare. I would find myself very offended by that and got SOOO mad, but then I think I realized "Why was I getting mad?" I almost felt like I was acting that I was ashamed of my child, but I wasn't. So, now when people stare, I just smile at them and say "He's beautiful, isn't he?" Most people agree!
The thing that has helped me and turned my attitude around 200% is that I found The Lord. Someone told me just a while ago that just as we need to accept our child's disability, we also need to accept that there will always be sadness in us for what can never be. Good point, but easier said than done! Once in a while I find myself holding him and smelling him (I love his smell), and the thought of him dying flashes in my mind and I cry, but then I tell myself not to think of those things and I busy myself with other thoughts.
Stephen has developed a lot more than I thought he would. He has great head control, and he babbles "mama" and "baba." He is a very happy little boy. He eats by mouth. His hearing is fine, but he is EXTREMELY farsighted. They put Stephen at about a 3 month level. He cannot grasp objects yet with his hands - hed rather suck on them! He rolls over. He does not bear weight on his legs but kicks them like a Rockette!! His legs are extremely "froggy;" he keeps them bent, almost like folded in half. He is very active and just the sweetest little man ever. I always thought that I would be the teacher to my kids, but it seems that my son has become my teacher, and he has taught me SOOO very much. - Angie Tucker
Christopher was born August 1, 1998. He was a healthy 7 lbs, 7 oz, and scored 9 on both Apgar tests. He was a stubborn baby (or so we thought), refusing to eat for 2 days. But, the doctors said he was fine, and sent him home when he was just 3 days old. When he was around 4 months old, we started noticing a few "small" things... he wouldn't lift his head when he was placed on his stomach, and constantly kept his hands clenched in little fists. He also appeared to be having really bad problems with constipation... about 10 times a day, he would bear down, face turning red, stop, and start again, for about 5 minutes. We saw the pediatrician, and tried many homeopathic remedies, new formulas, etc. Nothing helped. We were referred to a neurologist for testing due to the delays. Before we even got to see the neurologist, Christopher had a grand mal seizure, and was rushed to the ER via ambulance. A CT-scan and an MRI were done, and we were told he had lissencephaly, and what we thought was constipation was actually infantile spasms, a type of seizure. Our first thought was, "WHAT is lissencephaly??" No one knew what to tell us. Lissencephaly is a rare disorder (affecting somewhere between 500-1000 children worldwide), so we were left to inform ourselves. Luckily, we found the Lissencephaly Network, (www.lissencephaly.org) and the Lissencephaly Loop, a private listserv for parents of children with lissencephaly.
Christopher has many problems and complications, including, but not limited to, dysphagia (excess secretions and the inability to manage them), cortical vision and hearing impairment (his eyes and ears are perfect, but the processing in the brain gets messed up somewhere, so his vision and hearing come and go, varying at different times), seizures (infantile spasms, currently controlled with Vigabatrin, a non-FDA approved medication shipped to us from Mexico), hydrocephalus (not a complication of the lissencephaly, but something which was diagnosed about 3 months ago), which he has been shunted for, spastic quadriplegic cerebral palsy (very common with lissencephaly children), G-tube (feeding problems are also common), reflux and ulcers, and as most lissencephaly kids are, he is VERY prone to aspiration pneumonia. Those are the major problems he has.
Most people get upset when I tell them about Chris... "Oh, poor baby" they say, especially when I tell them his prognosis. Developmentally, most lissencephaly children do not pass the 3-month-old level. As for life expectancy, we have been told that he has a 50/50 chance of making it to age 10. What they don't realize, is that he is a HAPPY baby. He loves his family; he loves his toys. He doesn't have many abilities, but we're working on it. Right now, our goal is head control, and possibly rolling over. If we don't get it, that's okay. His smile is enough to brighten even the darkest day, and all who meet him fall instantly in love. Life with Chris isn't easy, but it's worth it. He truly is a "SPECIAL" child, and I would not change a thing about him. He just wouldn't be Christopher any other way. Lissencephaly isn't who he is, but it's a big part of him. - Kelly Bishop
My name is Nancy Harris-Farese, and my son, Zachary, has lissencephaly/pachygyria. He was diagnosed at five months of age when he began having seizures (infantile spasms). He went through a course of ACTH injections, which I had to give him at home for about four months. That worked for about a year and a half, and after he was weaned off those injections, he was seizure free for about a year on Klonopin. We are now adjusting medications, Depakene and Topomax, in an attempt to again gain control of his seizures.
It was a most difficult time to go through, first learning the diagnosis and the prognosis. For over a year, I was in complete denial that he would not get better, and then it came time to face the truth. With the support of the Lissencephaly Network, and the Lissencephaly Loop, I have learned to appreciate each and every day I have with my beautiful son, and have learned to accept what this means for our family.
Zachary is without a doubt the light of my life. He has the most beautiful smile and pleasant disposition, notwithstanding all that he has had to go through in his three years here (six overnight hospital stays, injections, blood tests, etc.). He loves to play, and gets to where he is going by rolling around the floor. His favorite toys are light and sound activated toys, and his all-time favorite is his Playschool piano. Also, just about every V-Tech toy has a place in his play area. He is starting to creep around the floor, loves to laugh at funny faces, and has a temper!!
He is social and loves to "talk" with you - you say "aaahhh," and he responds "aaahhh." I don't know how long we will have our little boy, but he makes each day worthwhile. Zach's birthday is May 28, 1996, and he lives with me and his father. - Nancy Harris-Farese
Joshua was born full term with no indication that there was anything wrong until the second he was born. He was born with a very small head and was diagnosed with lissencephaly 4 days later, when our neurologist looked at his CT-scan. Our neurologist told us a very grim story about what to expect of our child. He was very kind about it and was very sympathetic to us. I have heard of some horror stories about how parents were told and what parents have to go through with their doctors. I have to say that we have been very lucky and happy with our doctors. Each and every one of them are there when you need them and are very understanding and caring.
Well, Joshua has had a very good first year, but we spent his first birthday at the hospital with his first bout of pneumonia. He has just celebrated his 2nd birthday. Within that year, he has had a feeding tube placed and a tracheostomy. Things have been going very well since (KNOCK ON WOOD!). He is a very happy and otherwise very heathy child. There are no other deformities or organ problems, other then his brain. He can track objects pretty well. He gets therapy (physical, occupational, and developmental) every week. He tries to roll and while put on a little scooter- type device, Joshua will try to crawl. I am so happy with any progress that he makes BUT am very happy with the way he is. I truly love my son no matter what; it is my husband who has had a problem with what God has done. He loves Joshua too, but can't accept the fact that God did this to him. Anyway, I told my husband that God just had to meet his quota and trust us to care for and love him. God knew that we would not neglect or abuse Joshua! He put his trust in us to care for Joshua and the least we can do is put our trust in Him! I have attached a poem that I have written and it pretty well sums up how I feel about my angel, Joshua:
Joshua, My Precious Child
You have been given to me,
From the highest grace of thee.
I will do all I can for you,
No matter what you cannot do!
I will be your eyes when you cannot see,
I will be your arms when you cannot reach,
I will be your legs when you cannot walk,
I will be your lips when you cannot talk.
So my precious child, know that you can depend on me,
For whatever you may need.
I will never give up on you,
Because I will always love you.
So for however long you're on this earth,
From the first day of your birth.
You have been a special child,
And I will make your life worth while.
I promise you, my precious child,
to care for you the best I can,
In hopes that I can fulfill,
whatever has been God's Plan.
These words are a promise to you,
And I will always hold them to be true.
So be strong my little one,
Till the day that God says I am done!
Joshua has an older and a younger brother and both of them are very healthy and up to par with their development. We were very scared to have a child after Joshua, but are very glad we did. We love our children!! - Cora Kobularcik
My name is Mary Barbry and my two year old daughter, Alexis Barbry, has lissencephaly. My delivery for Alexis was normal and there were no complications after her birth. For the first few months of her life, Alexis appeared to be a normal infant. She would basically eat, sleep, and make dirty diapers. That was all she would do. We then started to expect her, by four or five months, to start pulling up on things or crawl or try sitting on her own. She wouldn't do this. She wouldn't even repeat sounds when we would talk to her. She was very nonverbal. Visually, it didn't seem that she would notice objects like she should. When I took her to the pediatrician for her monthly checkup when she was four months old, the pediatrician measured her head circumference and it was only at five percent of what it should have been.
He asked me if Alexis would try to roll over and do other things that children her age should be doing, but she wasn't doing any of them. He wanted to keep a close eye on her and he told me that if she wasn't sitting up by six or seven months, that there could be a problem. We had a CT-scan done at first and then an MRI that did show that she has a smooth brain - lissencephaly. We had numerous other tests done to show that she does have very good hearing, but she cannot see very well; she has cortical blindness. She also had a modified barium swallow done and she does aspirate. She is taking phenobarbital for her seizures and Lactulose to ease her stomach. The neurologist did tell us that she would have a very short life span. Just how short, we don't know because each child is different.
To this day, Alexis cannot sit up. She also cannot talk or walk or see very well. She must be carried from room to room or we use a wheelchair to push her around. She continues to have infantile spasms and seizures and I am currently looking for a new pediatric neurologist to prescribe her a different medicine.
Although Alexis cannot do things like most children, I love her with all my heart. She is the joy of my life. I know that God sent her to me for a very special reason. I can love her unconditionally because, in my eyes, she is an angel on earth. She can never do any harm to anyone. My advice to other parents that have a child like Alexis is to appreciate everything you are given and never take one moment for granted. - Mary Barbry
If you are interested in meeting other parents and individuals who are involved in raising a child with lissencephaly, the following listservs are available:
Lissencephaly List - To subscribe, simply click here: http://www.onelist.com/viewarchive.cgi?listname=lissencephaly
Walker-Warburg List - To subscribe, simply click here: http://www.onelist.com/viewarchive.cgi?listname=walkerwarburg
For more information on lissencephaly, please visit these helpful sites:
- The Lissencephaly Network http://www.lissencephaly.org
- National Institute of Health http://www.ninds.nih.gov/patients/Disorder/lissencephaly/lissencephaly.htm
- Reiner, O., Lombroso, P., Development of the Cerebral Cortex: II Lissencephaly, J Am Acad Child Adolesc Psychiatry, 37(2):231-232, 1998 http://info.med.yale.edu/chldstdy/plomdevelop/011998121998/february.html
- University of Chicago, Department of Genetics http://genes.uchicago.edu/ucgs/special-diagnostics/MD-IL/md-il.html
- Lissencephaly Launch Pad http://www.foliot.demon.co.uk/lissinfo.html
- Klaff, L.; Creekmore, J.; Breimayer, D.; Syed, S.; Lissencephaly, Washington University http://www.foliot.demon.co.uk/lissinfo.html
The Disorder Zone has been created for educational purposes only and is not intended to serve as medical advice. The information provided in The Zone should not be used for diagnosing or treating a health problem or disease. It is not a substitute for professional care. If your child has any health concerns, please consult your health care provider.
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