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by Kit Looper, Canadian, TX

In the past two years, my daughter Bridget Stomberg, has "mothered" two beautiful little girls, healthy in every way except one. Kennedy (19 months), and Madison (about 8 months), were born without sight. Doctors diagnosed them as having Leber's Congenital Amaurosis (LCA). As far as we know now, the girls only have some light vision. No other handicaps have been noted so far.

I am a professional journalist, writer and researcher and have decided that "Grandma Kitty" should try to find out more about Kennedy and Madison's condition, not only for my own need to know, but possibly as a benefit to other families who may have children with this diagnosis. TSBVI has offered to help me establish a sort of "network" specific to LCA, for the purpose of sharing information, insights, inspirational experiences, and details on the latest in research in this field. So far, I have located two Texas LCA families, who have endorsed this idea wholeheartedly; one family has 2 young children with Leber's and the other has one grown daughter and teen sons (twins) with the condition.

We're all ready to communicate with others, if we can locate them, and I have some fascinating data on research going on across the country, that I'd like to share. For this reason, I particularly want to hear from professionals interested in, or currently working on, treatment, O&M, genetics research, or any other area of Leber's Congenital Amaurosis. ( I will certainly be glad to preserve professional confidences on specific details, and yet welcome general information to share with others.)

Remember, I'm new at this and still don't know very much yet, but if we can just get a Texas-based network going, I think we can all share our individual stories and learn together. For this reason, I am willing to be a contact person to help set up communications.

If you have questions, answers, ideas, or just plain interest, please get in touch with me, by email or that old standby, "snail mail." Be sure and let me know whether it is permissible to add your name to a contact or mailing list, in case I am able to start a newsletter. Please feel free to share your thoughts, feelings, and sources of information, so everyone can benefit. I'm even on the trail of LCA support groups in other states. If you know of any, please let me know. Contact: Kit Looper, 810 Summit, Canadian, TX 79014 (806) 323-8500 .

by Kate Moss, TSBVI Deafblind Outreach

In an effort to help those of you who are interested in using the Internet find information to help you and your child, I wanted to share some medical websites and a few listservs that might help you get the information you need. Frequently parents and professionals will contact me wanting information on various syndromes or conditions, information on physical management strategies related to children who may have feeding, motor, or other issues, or information on how to connect to other families whose children have the same condition or issue. The Internet has been invaluable in tracking down information. As a novice surfer I have found that a few well-placed "bookmarks" at individual websites makes my search much faster and much more productive. I also find listservs are a great place to connect with others and to learn about good websites. Remember, if you are not lucky enough to have Internet access at home or at work, check your public library.

Listservs

Listservs are different from websites. They are set up to allow you to correspond with all the other members of a group (listserv subscribers) electronically. Most of the disability listservs do not charge you a fee to subscribe. There are a variety of listservs focused on specific topics mentioned on some of the websites listed below. You may want to check some of these out.

Websites

A website is a place that has a variety of information such as articles, databases, listservs, etc. Some of the best resources for finding medical information are those websites that connect families to other families. These include:

  • The Family Village Project: This is one of my all-time favorite websites for just about everything I need to find.
  • Texas School for the Blind & Visually Impaired  Not that I'm bragging, but this is a great website with wonderful links to other important websites. Always an easy door to start through.
  • DB-Link This site focuses on deafblindness. It also has a related listserv.
  • NAPVI Home Page This site has much to offer, but is especially useful for connecting to other families.

Other websites staff in Outreach have found for getting information on specific disabilities or conditions include:

If you have found other sites or have comments on any of these, I would love to hear from you. Please write to Kate Moss, TSBVI Deafblind Outreach, 1100 W. 45th St., Austin, TX 78756, or phone (512) 206-9224, or email me at .

submitted by Bonnie Armstrong, Ft. Worth, TX

Every year an estimated one- to three-thousand children are diagnosed with Shaken Baby Syndrome (SBS), a serious brain injury that occurs when a frustrated caregiver vigorously shakes a child, usually to stop them from crying. Victims are mostly under the age of one, but SBS has been diagnosed in children as old as five. Twenty-five to thirty percent of SBS victims die, while survivors suffer varying degrees of mental retardation, cerebral palsy, seizures, blindness, deafness, and learning/behavioral problems.

For the families of SBS, the death or severe injury of a child due to such a violent form of child abuse is devastating and affects the entire extended family. Rage, guilt, sadness, loneliness, and isolation are just a few of the emotions experienced by these families. The families of SBS victims are also faced with the burden of tremendous medical costs, a criminal justice system that often does not punish the perpetrators of this horrible crime, and unknowing professionals that further "victimize" them. Support and information for these families as well as professionals trying to help them have been virtually nonexistent.

Recognizing a real need for SBS support and information, The SBS Alliance was formed by Kim Kang after her daughter was shaken by a licensed child care provider. Kim formed The SBS Alliance to provide support and information for families affected by SBS. In addition, the SBS Alliance provides information and referral services for professionals working with families of shaken babies. Members can receive support and information via telephone, mail, SBS Electronic Mail List, and The SBS Alliance website.

Mothers, fathers, grandparents, concerned family members and foster parents in addition to professionals in the medical, legal, social services, and educational fields have joined The SBS Alliance Mail List and The SBS Alliance to promote a community effort in the battle against SBS.

The SBS Alliance is currently forming support groups to give families face-to-face support. A list of resources is also available for families to help them find the needed medical care, rehabilitative therapy, and other related information. For families of deceased children, The SBS Alliance has a data base of families who have also lost a child to SBS. These families offer tremendous support to each other.

For those with electronic mail access who would like to subscribe to The SBS Alliance Mail List sponsored by St. John's University, contact Kim Kang, Internet Relations Coordinator through email at <>. Families and professionals may access The SBS Alliance website at the following URL: http://www.shakenbaby.com. (requires registration).

If your family has been affected by Shaken Baby Syndrome, or you are a professional needing information and/or support, please contact: Bonnie Armstrong, Support Coordinator at (817) 444-9357 or email to <> or Kim Kang at (972) 422-9872 or email to <

The Second Annual Conference on SBS: Medical, Investigative, Legal Intervention, & Crime Prevention Challenges will be held September 13-15, 1998 in Salt Lake City, UT. If you would like more information about this conference contact: The Child Abuse Prevention Center, 2955 Harrison Boulevard, Suite 102, Ogden, UT 84403 or phone at (801) 393-3366 (voice) or (888) 273-0071 (toll-free) or email to <>.

by Kate Moss, Family Training Specialist, TSBVI Deafblind Outreach
based on information from CHARGE Syndrome: A Booklet for Families

A \"syndrome\" is described as a recognizable pattern of birth defects. One of the more complex syndromes that can result in both vision and hearing loss is CHARGE Syndrome. Children diagnosed with CHARGE most commonly have:

  • Coloboma of the eye (a cleft or keyhole-shaped defect occurring in one or more areas of the eye including the iris, retina, or disc)
  • Heart defect
  • Atresia of the choanae (closure of the passages from the back of the nose to the throat which allow breathing through the nose)
  • Retardation of growth and/or development
  • Genital Hypoplasia (this can include in boys a small penis, undescended testicles, no urethral opening at the end of the penis and in girls in can include a small or absent labia)
  •  Ear malformations
  • The name \"CHARGE\" comes from the first letter of each of these defects or anomalies. Children with CHARGE may have additional problems. Some of these problems include:
  • Facial paralysis or palsy
  • Central Nervous System disorders which may include microcephaly, seizures, apnea, and central processing problems including a central hearing loss.
  • Pituitary abnormalities
  • Swallowing difficulties
  • Urinary tract malformations such as abnormal kidney shape or location, backup of urine from the bladder into the kidney (reflux), posterior urethral valves.
  • Cleft lip and/or palate
  • DeGeorge sequence (congenital absence of the thymos and parathroid glands)
  • CHARGE facial features (square shape of the face and head, flat cheekbones, facial asymmetry, wide nose with a high bridge, and unusual ears)
  • Omphalocele (failure of the abdominal wall to close properly around the umbilical cord, intestines may be outside of the body)
  • Tracheo-esophageal fistula (an abnormal connection between the trachea or wind pipe and the esophagus or food pipe)
  • Esophageal atresia (the esophagus or food pipe ends in a pouch instead of connecting to the stomach)

There is no laboratory test that can diagnose CHARGE Syndrome. Usually the diagnosis is made because of the presence of a number of these typically unrelated anomalies. Because of this, the diagnosis is usually made by a team of specialists, based on the specific combination of features seen in the child. These features vary greatly from one child to another. For this reason, a diagnosis of CHARGE Syndrome may be a long time coming.

The cause of CHARGE is not known. It is not known to be related to illness, exposure to drugs or alcohol during pregnancy, and typically it does not occur to more than one person in a family. It is very rare, and cannot be predicted. It is important however, to discuss risks for passing CHARGE Syndrome to future generations with a trained geneticist.

Children with CHARGE require a great deal of medical management. There are often numerous surgeries to repair heart defects, choanal atresia, the gastrointestinal tract, the esophagus, cleft lip or palate, etc. Although many of these procedures are done when the child is a newborn, some of the less life-threatening problems may not appear until later or may have to wait until later in the life of the child to be addressed.

This results in a very difficult time for the child and the family emotionally, physically, and financially. It is easy to neglect to give time or energy to a spouse (or other children) when such incredible demands are being made of the parents. These families have great need for support in finding medical resources, financial resources, and respite resources. Often times the hospital social worker can help families in locating these resources locally. However, it is also a good idea to contact the CHARGE Syndrome Foundation to help the family learn more about the specific condition and what other families have done in similar situations. The address for this organization follows:

CHARGE Syndrome Foundation

2004 Parkade Boulevard
Columbia, MO 65202-3121
families call- (800) 442-7604
professionals call - (573) 499-4694

e-mail:

This organization provides a newsletter, informational materials, parent-to-parent networking and match-up, referrals to local resources, national conference, and a research registry. There are also local chapters of this organization around the country. In the near future there will also be a listserv for this organization.

Once the major medical problems are addressed there are still ongoing issues related to problems with growth, sexual maturation, intelligence, vision, hearing, speech and language development, and general health. Again, not every child will have all of these anomalies present, but it is good to be aware of some of the issues since some of the problems develop later in the child.

Children with CHARGE Syndrome are often sickly, especially in the early years. They frequently experience colds that turn into pneumonia. Even conditions that would be minor in most children may become serious conditions for them.

Though many of these children have normal intelligence, some children with CHARGE may have mental retardation which can range from mild to severe. However, the level of the child's intelligence may be difficult to assess if there is vision and/or hearing loss. This is why it is essential that children with CHARGE have their vision and hearing evaluated.

Some children with CHARGE have problems with visual acuity (either near- or far-sighted) which usually can be corrected with glasses. However, some of these children may also have field losses which can cause problems for them in reading, travel, reading sign language or doing other visual tasks. A good ophthalmologist can help advise the family on corrective measures. A teacher of the visually impaired can help in making recommendations for educational modifications and strategies.

If the child has a suspected hearing problem the otolaryngologist and audiologist can evaluate the child to determine if there are surgical procedures and/or assistive listening devices that can be considered. Since these children often suffer from chronic otitis media (fluid in the middle ear), they need to be monitored on a regular basis. Additionally, the teacher of the deaf and hearing impaired will be able to assist in making recommendations for educational modifications and strategies. A speech pathologist is also likely to be involved in helping the child with speech issues.

Children with CHARGE Syndrome are very different one from another. The combination of defects they experience and the impact of the combination of defects vary greatly. What these children have in common is the need to have a thorough evaluation of all the conditions they manifest and a team approach in both the medical and educational arenas that provides for the child's individual needs. The families of these children must be a part of these teams, and they must have support in addressing the unique needs of their child.

I encourage parents of children with CHARGE Syndrome to contact the CHARGE Syndrome Foundation. Your local school district staff, Regional Education Service Center staff, Texas Department of Assistive and Rehabilitative Services (formerly known as Texas Commision for the Blind) caseworker, or TSBVI Outreach staff can also be very helpful to you.

by F. Keith Busse, Jr., MD, Pediatric Ophthalmologist

The late, great Carl Sagan once wrote that science is self-correcting. Therefore, to any parent with any faith in medicine and their physician, please pursue a second opinion regarding the diagnosis of your child, especially when it might mean a diagnosis that represents a life of little or no vision for your child. No doctor, even the best, will be right all the time. Respect those doctors that are the most humble and admit what they don't know. There is so little that we really know in medicine, and many concepts are overturned in time.

Regarding the specifics of the original diagnosis, I know myself I once told a mom her child was too young (a few months old and former premie) for me to be sure the baby's optic nerves were hypoplastic and to return for an additional visit later when the baby was older. Therefore, the simple act of allowing the specialist to examine and re-examine your baby over time will be helpful in obtaining an accurate diagnosis.

Medicine is also an art, and it is probably this particular aspect that I love about it the best. Just as there are many artists, we don't always like the art that each and everyone of them produces. The particular combination of great, knowledgeable scientist plus compassionate and empathetic doctor is rarer still, as I am sure you can imagine. The most knowledgeable Ophthalmology professor I ever had, once, reduced me to tears because of his lack of compassion and empathy for me, the student-doctor.

There are "some" Ophthalmologists capable of setting down with a parent and presenting a rationale, scientific and compassionate explanation of their child's vision compromising disease and an optimistic but realistic outlook on the future. And the parent of the previous letter found one after seeking him out. (See Winter 1997 See/Hear, p. 2-4, "A Letter to a Doctor.")

My own approach is to pretend that the office schedule is stopped and not to allow any disruptions to interfere with this important act of communication, between me, as doctor, and the parents, as caretakers of their child. I approach it with seriousness, as if I were telling someone they had cancer. Not that blindness or visual impairment is the same, but it will affect/effect this family and this child with a similar level of seriousness for the rest of their' lives.

Because of the seriousness of such an undertaking, I want a definite diagnose before I start down this road. However, I try never to forget the parents' desperate need for answers and supply them with the knowledge of what we know and what we don't know. I prefer to be a conduit for information and only rarely cross the line with my personal opinion (and only then when the very life of the child may be affected like in retinoblastoma, etc.). It is one of the great privileges a doctor has, to make such a big influence and share information on such an important topic. However late I get in my patient schedule, I do not allow myself to be rushed. I do my best to explain very scientific concepts in as simple terms as possible.

Additionally, Ophthalmologists will not have all the answers. Even though we devote a life to working with the blind and visually impaired, we have never walked a day in these person's shoes. Nor have we spent a single minute educating a child to learn with these problems. Moreover, we generally avoid the financial or social implications of these problems.

Thank goodness for the many resources as mentioned by the parent of the previous article. I pity the children with asthma, cancer or heart defects, as they have no

Commission for their disease-specific or organ-specific ailments. We are incredibly lucky that people and governments since time immemorial have recognized the unique difficulties of those with blindness and visual impairment. For Texans in particular, we are blessed with the wonderful resources of the Texas Department of Assistive and Rehabilitative Services (formerly known as Texas Commision for the Blind) and Visually Impaired and the Texas School for the Blind and Visually Impaired. Such organizations are able to expand upon the contributions (of the diagnosis and treatment of eye diseases) that we as doctors make to enable the full development of the children who are our patients. The current trend by our society toward early childhood intervention, therapy in vision and mobility, etc. help give our patients, and your children the many expanded horizons that they deserve as God's creations.

by Kate Moss, Family Training Specialist, TSBVI Outreach

 Usher Syndrome is one disorder that comes to mind readily for professionals in both the field of vision and hearing when they think of syndromes which result in dual sensory impairment or deaf-blindness. However, there are many syndromes that have both vision and hearing impairment as part of the conditions that define the syndrome. It is important to be aware of these conditions, since one of the sensory disabilities is often times more evident than the other. This situation makes it easy to overlook the impact of the combined vision and hearing loss.

Below some of the more common syndromes, which can manifest with both vision and hearing loss, are described. If you are interested in obtaining more detailed information about any of these conditions, you may contact:

National Organization for Rare Disorders
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518

Most of the information about these syndromes comes from reports provided by NORD. The exception is the information on Congenital Rubella Syndrome which comes from a booklet, "Congenital Rubella Syndrome: Health Care Challenges" written by Dr. Steven Parker from Boston University School of Medicine in collaboration with Perkins School for the Blind, Helen Keller National Center and St. Luke's-Roosevelt Hospital. This publication is available through Perkins School for the Blind.

Alport Syndrome

Alport Syndrome is a group of hereditary kidney disorders. They are characterized by progressive deterioration of the glomerular basement membranes which are microscopic parts of the kidney. This deterioration may lead to chronic renal (kidney) failure causing excess waste products in the blood (uremia). Eventually severe renal failure may develop. Ureamia and kidney failure may cause heart and bone problems.

Abnormalities of the eye may occur in the juvenile forms of Alport Syndrome. The surface of the eye's lens may be cone-shaped (lenticonus) or spherical (spherophakia). The lens of the eye may be opaque or cloudy (cataracts). White dots may appear on the retina (retinal macular flecks or fundus albipunctatis). Children with Alport syndrome may be nearsighted (myopic).

Type I, Type II and Type VI Alport Syndrome includes kidney disease with nerve deafness and eye abnormalities. The difference between these two types is that Type I is a dominantly inherited juvenile form and Type II is an X-linked dominant juvenile form. Type VI is the autosomal dominant juvenile form.

Cytomegalovirus (CMV)

Cytomegalovirus Infection is a virus infection occurring congenitally, postnatally or at any age. CMV ranges in severity from a silent infection without consequences, to a disease manifested by fever, hepatitis, and (in newborns) severe brain damage, and stillbirth or perinatal death.

Symptoms of CMV are also highly variable as well. The infection may be manifested only by CMV in the urine in an otherwise healthy infant. At the other end of the extreme, hemorrhaging, anemia, or extensive liver or central nervous system damage may occur. Infants born with a severe form of the disease typically have a low birth weight and develop fever, hepatitis with jaundice, and hemorrhages into the skin, mucous membranes, internal organs, and other tissues. Enlargement of the liver and spleen, decrease in number of blood platelets, inflammation of the choroid and retina, abnormal smallness of the head, and calcification around the veins of the cerebral portion of the brain may occur. Motor defects, spastic paralysis on both sides of the body, blindness, deafness or seizures may develop.

Vision loss in these children is related to scaring of the choroid (the dark brown vascular coat of the eye between the sclera and retina). Hearing loss in these children is sensorineural. Even though CMV infection may not be apparent in some infants, it may later cause hearing loss.

CHARGE Association

CHARGE Association is a very rare disorder characterized by a variety of symptoms. At least four of the following six characteristics must be present for the diagnosis of CHARGE Association: 1) Absence of some eye tissue, including the iris (Coloboma); 2) Heart disease; 3) Absence of the opening between the nasal cavity and the back of the throat (Atresia of the choanae); 4) Retarded growth and development and central nervous system abnormalities; 5) underdevelopment of the Genitals; 6) Ear abnormalities and hearing loss. The six letters of each of these conditions make up the name CHARGE.

Down Syndrome

Down syndrome is the most common and readily identifiable genetic condition associated with mental retardation. It is caused by a chromosomal abnormality. One additional chromosome is present in each cell. This extra gene material changes the development of body and brain.

About half of these children have congenital heart disease. There is an increased incidence of respiratory problems. Recent studies have shown that there are more eye and ear problems in individuals with Down Syndrome. Eye problems associated with this syndrome are myopia and "Brushfield" spots (gray or pale yellow spots at the periphery of the iris). These individuals may have either sensorineural, conductive or mixed types of hearing loss.

Marshall Syndrome

Individuals with Marshall Syndrome have a distinct flat sunken midface with a flattened nasal bridge or "saddle nose". Their nostrils turn upward, there is a wide space between the eyes, and the upper portion of the skull is thicker than normal. Calcium deposits may also be found in the skull. Eye defects found in these individuals include nearsightedness, cataracts, and eyeballs that appear to be larger than normal because of the wide space between the eyes. Some people with this syndrome may also have crossed eyes, a condition in which the line of vision is higher in one eye than the other called hypertropia, retinal detachment, or glaucoma. Hearing loss may be slight or severe and is sensorineural.

Rubella Syndrome

If a pregnant woman contracts rubella, the virus can infect her fetus. Such an infection is especially dangerous in the first 4 months of pregnancy, causing damage to the developing organs. Although any part of the body can be affected, the eyes and ears seem to be especially susceptible to damage from a rubella infection.

Babies born with Congenital Rubella Syndrome vary greatly from one another. Some are only mildly affected while others have significant disabilities. Some of the problems associated with CRS include sensorineural hearing loss, visual problems such as cataract, inflammation of the retina (retinopathy), nystagmus, small eyes (microphthalmia), and occasionally optic atrophy, corneal haze, and glaucoma. These individuals may also experience hearing problems, neurological problems, growth problems, and other disabling conditions. In later life some individuals also experience glaucoma and detached retina.

Stickler Syndrome

Stickler syndrome is a genetic disorder inherited as a dominant trait. Initial symptoms of Stickler Syndrome may include a broad, flat, sunken bridge of the nose which makes the face look flattened. A cleft palate and small jaw may also be present. In addition, sensorineural deafness may develop. Eye defects may include a high degree of nearsightedness (myopia), irregularities of the lens (astigmatism), and changes of the optic disk. Cataracts, detachment of the retina and blindness may develop during the first decade of life. A form of glaucoma called glaucoma simplex may also occur.

Bone abnormalities in joints such as the ankles, knees and wrists usually occur. During childhood, individuals may experience stiffness and soreness after strenuous exercise. Swelling, redness and a feeling of heat may occur occasionally, leading to cracking and temporary locking of the joints. Incomplete dislocation of the hips is another frequent occurrence.

Other Syndromes

There are many other syndromes and conditions that are associated to some degree with combined vision and hearing loss. Some of these include:

  • Duane Syndrome
  • KID Syndrome
  • Leber's Syndrome
  • Norrie's Disease
  • Pierre-Robin Syndrome
  • Trisomy 13

Of course, vision and hearing loss may occur in children with any type of syndrome or condition in the same way that vision and hearing loss occur in the non-disabled population. However, in syndromes and conditions known to have related vision and hearing loss, we must be certain to provide ongoing, periodic assessment and monitoring of vision and hearing function.

Why is it important to know about syndromes?

1) Specific characteristics of a syndrome may have implications related to educational programming.

Obviously syndromes which have associated vision and hearing impairment can require a great deal of specific modifications to classroom instruction. Understanding the exact visual and auditory functioning of a child in the classroom and home environment can help us to provide these modifications. For example, with Usher Syndrome Type II the child may require the use of an auditory trainer. The child with Type I Usher will probably need a sign language interpreter, may need to be positioned at a specific distance from another signer, and/or may need instruction in the use of tactual signing.

Other conditions associated with a syndrome may direct the focus of instruction. For example, children with CHARGE Association may not have the physical ability to control urinary function until they are older. Trying to potty train a child with this condition at an age of 2 or 3 will likely prove frustrating to both the child and the caregivers. Knowing this, potty training may not be a priority for instruction in the early years of the child's life. Further, the classroom teacher may need the support of a paraprofessional during regular bathroom times in order to change the child's diapers. Consideration may also need to be given to providing a private space for the child during this activity that would not ordinarily exist in the classroom.

2) Specific characteristics of a syndrome may have implications related to career choices.

Some career's require good vision or hearing such as an airline pilot, an architect, or a truck driver. Many jobs can be modified or special technology can make jobs accessible even to individuals without vision or hearing. Sometimes specific jobs in a field may be accessible to an individual with disabilities while other jobs in that field are not accessible. The more information the student, his family, and career counselors have about a typical pattern of progression associated with a particular syndrome, the better prepared they are to make good decisions about future career choices and current programming.

3) Specific characteristics of a syndrome may have implications for ongoing medical follow-up.

Many syndromes such as Congenital Rubella Syndrome have a delayed onset of symptoms associated with them. For example, an individual with CRS is at higher risk for developing glaucoma and diabetes. They are also at risk for having detached retinas. Knowing this, regular eye examinations and medical examinations may help to detect these problems early on so the individual may receive proper medical treatment.

Sticklers syndrome often has hip dislocations associated with it. Knowing this, there may be a need to restrict some physical activities which may put the individual at risk. Other syndromes such as Cornelia de Lange may have gastrointestinal problems associated with them which may require special diets or medicines to prevent more serious conditions from developing.

Whatever the condition or syndrome is which results in long-term disabilities, the more we know about it the better off we are in helping the child. It is sometimes difficult to get a clear diagnosis of specific syndromes, but genetic testing and counseling can be very helpful. Your pediatrician or hospital may be able to refer you to a genetic counselor. Other resources to find out more about genetic testing are:

National Society of Genetic Counselors
233 Canterbury Drive
Wallingford, PA 19086-6617

Alliance of Genetic Support Groups
35 Wisconsin Circle #440
Chevy Chase, MD 20815-7015
(800) 336-4363
(301) 652-5553 voice or (301) 654-0171 (fax)

Additionally, knowing about the specific cause of a disability often gives parents a way to connect with other families facing similar concerns. There are many disability specific support groups listed in the January 1996 Exceptional Parent magazine.

adapted by Kate Moss from text by Millie Smith and Nancy Levack

Editor's Note: In the preceding article by Marnee Loftin, she gives a firsthand account of the effects of Traumatic Brain Injury and talks about the problems she experienced in her vision, cognitive and emotional functioning. I thought that it would be good to share some more information about the visual issues related to TBI with you. What follows is adapted from Teaching Students with Visual and Multiple Impairments: A Resource Guide, by Millie Smith and Nancy Levack.

Sensory problems are common after traumatic brain injury. The problems these children have with their vision is referred to as Post Trauma Vision Syndrome or PTVS. Over half of the children who have experienced brain injury have vision problems, such as blurred or double vision and visual field defects. Blurred or double vision may improve during the first six months after the trauma event, but the field abnormalities are more likely to persist (Mira, Tucker, & Tyler, 1992).

Binocular vision is what allows us to blend the two images seen by each of the eyes into only one perceived image. Long-term difficulties with binocular vision are common. These include:

  • strabismus (misalignment of the eye caused by muscle imbalance),
  • ocular motor dysfunction (difficulty with eye movement),
  • convergence (simultaneous movement of both eyes toward each other usually made in an effort to maintain a single image as an object approaches),
  • accommodative abnormalities (problems in the focusing of the lens to produce a clear image as objects move closer),
  • and double vision (perceiving two images of a single object).

When these conditions are present from birth, the brain adapts by suppressing the vision in one eye. In post trauma vision syndrome the condition occurs abruptly. The brain does not have a chance to adapt gradually and abnormal vision persists. It is important that any child who suffers traumatic brain injury receive a comprehensive ophthalmologic exam (Mira, Tucker, & Tyler, 1992). Double vision in particular interferes with depth perception, locating objects, and the ability to match visual information with kinesthetic, proprioceptive, and vestibular experiences. These terms are explained below:

  • kinesthetic- This has to do with the conscious sensation of joint position, movement, weight, and position in space.
  • proprioceptive - This has to do with knowing the location or relationship of parts of the body in stationary positions without the need to, for example, look at your arm, or touch your arm.
  • and vestibular - This has to do with the brain's reflex system that coordinates eye movements with head movements so that a person can keep their eyes on a fixed object as they move their head. The vestibular system helps us to maintain balance.

Because of double vision which occurs with PTVS, balance, coordination, and movement become impaired (Padula, Shapiro, & Jasin, 1988).

Many individuals with a post trauma brain injury experience a variety of visual-perceptual abnormalities. Students with post trauma vision syndrome (PTVS) have a difficult time transferring the visual information they learned prior to injury to present situations. Problems with spatial organization are common. They may also develop abnormal head posture along with high tone in muscle tissues in other parts of the body, particularly about the head, neck, and shoulder areas. This happens because the child will try to correct or improve his visual functioning by tilting or holding his head in an unnatural position (Padula, Shapiro, & Jasin, 1988).

Children with traumatic brain injury may also have damage to their ears. Mira, Tucker, and Tyler (1992) also describe the types of ear damage that frequently occurs with a traumatic brain injury. There may be damage to the middle ear which can cause a conductive type of hearing loss. There may be damage to the inner ear or the auditory pathways into the brain which can cause a sensorineural hearing loss. Children with visual impairments generally rely on their hearing to compensate for the loss of visual functioning. For this reason, it is critical that children with PTVS have a complete audiological evaluation.

Characteristics of PTVS

The characteristics of post trauma vision syndrome include:

  • Difficulty with binocular vision function
  • Difficulties with accommodation
  • Low blink rate
  • Inability to perceive spatial relationships between and among objects
  • Difficulty fixating on an object and pursuing the object visually when it moves
  • Abnormal posture
  • Double vision
  • Clumsiness
  • Objects appear to move when they are not actually moving
  • Poor concentration and attention
  • Poor visual memory
  • Inability to perceive the entire picture or to integrate its parts
  • Inability to read despite the ability to write
  • Failure to attend to objects presented in a particular place
  • Inability to recognize objects with their vision alone
  • Inability to distinguish colors
  • Inability to visually guide their arms, legs, hands, and feet
  • Visual field loss

(Adapted from Padula, Shaprio, & Jasin, 1988)

Suggestions and Interventions

The following is a list of suggestions and interventions that can be tried with students who have PTVS. Some of the items are interventions which should be prescribed by eye specialists or require input from motor specialists.

Spatial disorganization

  • Reduce clutter.
  • Increase spacing.
  • Add environmental cues (e.g., outlines of objects to indicate placement, color and light enhancement to draw attention to certain places).
  • Use a paper clip or eraser to mark a place on the page.
  • Establish a routine for tasks and ensure that it is set up the same way every time.
  • Place a ruler under the line of print.
  • Cut a window in a piece of paper that can be moved from word to word, from line to
  • line, or picture to picture.

Abnormal posture

  • Prism lenses or patching may alleviate this problem if it is due to ocular abnormalities (Padula, Shapiro, & Jasin, 1988).

Double vision

  • Prism lenses or patching may alleviate this problem (Padula, Shapiro, & Jasin, 1988).

Poor fixations and pursuits (difficulty scanning for a specific object or following a progression)

  • Practice visual scanning skills (Roberts, 1992).
  • Highlight every other line of text.

Poor concentration and attention

  • Give step-by-step instructions.
  • Use various cueing systems (e.g., color coding, underlining, windows).
  • Use preferential seating.
  • Use consistent structure.
  • Develop an organizational system.
  • Pace work.
  • Reduce environmental distractions.

Poor visual memory

  • Augment visual with tactual and auditory stimuli when possible.
  • Attach labels.
  • Pair language with visual cues.

Movement abnormalities---Objects/words appear to move around the page

  • Use a yellow acetate cover to cut down on the strobing effect of black print on white paper.

Inability to take in all but a fragment of a visual scene or the disappearance of visual objects due to abnormal perception

  • Allow simultaneous touching of visual material.
  • Attach labels.
  • Pair language with visual cues.

Inability to read despite the ability to write

  • Use recorded materials.
  • Assess tactual spatial ability. If intact, consider tactual literacy media such as braille,
  • Fishburne Symbols, Moon Symbols.

Failure to attend to objects in affected hemisphere

  • Increase student's awareness of area of inattention with verbal cues, direct lighting, etc.

Inability to distinguish colors

  • Eliminate curriculum content related to color (e.g., learning color names, sorting by color).

Inability to visually guide limbs

  • Most students spontaneously look away when reaching. Do not discourage this strategy.

Field abnormalities

  • Prism lenses may help.
  • Practice scanning and localization.

Editor's Note: Children with Traumatic Brain Injury typically face additional problems in the areas of communication, acquiring new information, spatial orientation, attention and concentration, task completion, impulse control, dealing with anger, social integration, and social conversation. For information and suggestions to address these concerns the following resources are suggested:

Blosser, J. L. & de Pompei, R., (1994). Pediatric traumatic brain injury: proactive intervention, Singular Publishing Group, San Diego, CA.

Mira, M.P., Tucker, B.F., & Tyler, J.S. (1992). Traumatic brain injury in children and adolescents: sourcebook for teachers and other school personnel, Pro"Ed, Austin, TX.

Smith, Millie and Levack, Nancy, (1996). Teaching students with visual and multiple impairments: resource guide, Texas School for the Blind and Visually Impaired, Austin, TX, p. 215-238.

Brain Injury Association
1776 Massachusetts Avenue NW, Suite 100
Washington, D.C. 20036-1904
(800)444-6443 - toll free or (202)296-6443

Contact for newsletter, information, referrals, national conferences and advocacy efforts.

REFERENCES

Mira, M.P., Tucker, B.F., & Tyler, J.S. (1992). Traumatic brain injury in children and adolescents: sourcebook for teachers and other school personnel, Pro"Ed, Austin, TX.

Padula, W.V., Shapiro, J. B., & Jasin, P. (1988). Head injury causing post trauma vision syndrome. New England Journal of Optometry, 41(2), 16-20.

by Ann Bogran, Parent, Houston, TX

Once again as my son Gregory and I sit in the doctor’s waiting room, another mother and I begin to talk. At first we discuss the subject of medical equipment and funding sources. Eventually the conversation moves to a more personal subject. Why are we both here? It is not the first time that I have heard "My daughter has something rare. No one has ever heard of it." Somehow I know instinctively that her infant daughter has a mitochrondrial myopathy just as we suspect with my son.

The mitochondria are small organelles found in the cells of the body that function as powerhouses for the cells. They take oxygen and nutrients and convert them to usable energy. Malfunctions within the mitochondria lead to a loss of the cells ability to grow and function. Organs such as the brain, muscles, heart, kidneys, and eyes, which require a lot of energy, will often be the most affected by mitochondrial disorders. Although the abnormal mitochondria occur throughout the body, the ratio of abnormal to normal mitochondria may vary within different organs. Only when the percentage of abnormal mitochondria crosses a certain threshold will the disease express itself in that organ. This leads to the varied presentations among those affected. For instance, someone with a high number of abnormal mitochondria in the optic nerve may have blindness (Leber’s Hereditary Optic Neuropathy), in the brain may have seizures (Mitochondrial Encephalomyopathy), or in the heart may have heart disease (cardiomyopathy).

When Gregory first received his diagnosis it was very important for me to speak with another family who was familiar with this disorder. Since that time I have had the opportunity, not only in waiting rooms, but at conferences, to benefit from my contact with families affected by this disorder.

This April, professionals and families traveling from all over the world met in Philadelphia, Pennsylvania for the 1997 International Conference on Mitochondrial Disease. Beyond the support and friendships forged during that brief weekend, it was a wonderful opportunity for education in this rapidly changing field. I left with a much stronger understanding of advances in the diagnosis, treatment, genetic mapping of the disease, and a view to the future hopes for research.

If you wish to find out more information, the following groups may be able to help:

Mitochondrial Disease Foundation of America
Lynnie Morgan
5100-1B Clayton Road, Suite 187
Concord, California 94521
(510) 789-8798 (voice/fax)
(800) 838-MDFA (toll free)

Project AKIN will assist with matching families.

National Leigh’s Disease Foundation
Post Office Box 2222
Corinth, Mississippi 38834
(601) 286-2551 (voice/fax)
(800) 819-2551 (toll free)

United Mitochondrial Disease Foundation
Post Office Box 1151
Monroeville, Pennsylvania 15146-1151
(412) 856-1297 (voice/fax)
(email)

Registry - maintains a confidential database provided by families.

Editor’s Note: Ann is the second family I have met with a child who has a diagnosis of Mitochondrial Disease. I knew nothing about the disease and really didn’t know where to begin to find information. Ann contacted me to get assistance in helping her go to the International Conference and immediately offered a wealth of information to me to share with other families. I would be happy to pass this information along to anyone who is interested. Just drop me a line, call, or send me an email at .

Several days ago the June 1997 Exceptional Parent magazine landed in my mailbox and on the cover it read:

Mitochondrial /Metabolic Disorders
First in a new three-part series

After reading the articles contained in this edition, I knew this was very important information for families and professionals to learn about. The statement that hit me like a brick was: The relatively simple diagnostic rule of thumb for the primary care physician should be: ‘When a common disease has features that set it apart from the pack or involves three or more organ systems, think mitochondria.’ I encourage you to read this special three-part series of Exceptional Parent magazine to learn more. Below is an additional support and information resource for families that was listed in this article:

J.U.M.P. - Juvenile Unknown Mitochrondrial Problems
Julie Hacker
2232 South Main Street, #130
Ann Arbor, Michigan 48103
(313) 327-5070 (voice) and (313) 327-9806 (fax)

by Marnee Loftin, Associate School Psychologist, TSBVI

The year of 1996 has proven to be a year of mixed blessings for me. On the negative side, I experienced a health crisis that was life threatening as well as life changing. On the positive side, I had an opportunity to "walk a half-mile in the moccasins" of many of my students. That experience will remain in my heart, and I hope always influence my efforts to provide quality services for children with special needs.

I have worked in the field of special education for approximately 20 years and provided many inservices for staff and parents. One topic of interest to me recently has been children who have visual impairments brought about by neurological trauma and the impact that visual condition has on their emotions and behavior. I have frequently described the problems they experience: inaccurately interpreting visual stimuli, increased tactile defensiveness, and the emotional drains that occur because of uncertainty and confusion. My knowledge has now been supplemented with experience.

In January, I experienced an intracranial hemorrhage in the right parietal lobe as a result of a sudden infection of the brain. The cause of the infection is still not certain, but I became significantly impaired on the left side of my body. Doctors were encouraging about my recovery but stressed the importance of being patient and following their instructions.

My most significant memory of my hospital stay was the discomfort of many of the tests that were done. I regretted many times the empty assurance that I had given in the past to students that certain medical tests were not painful. Most of these tests were painful and all of them were quite frightening to me. The staff who took the time to explain these procedures thoroughly and accurately to me will always be a positive memory. Step one of my "moccasin journey" was a resolve to do a better job of explaining these tests to the students I work with in the future.

The hospital experience was quite enlightening to me, but the real challenge has been the process of rehabilitation. It seems long even though it has been a fairly rapid recovery compared to many of my students. Through this process I have "learned" many of the things I "knew" about traumatic brain injury.

Interpreting visual stimuli

People with head injuries can have great difficulty interpreting what they see. Often this is much more difficult in large and open environments. These individuals will often actively resist being in these environments and if forced into these situations they will react in a number of inappropriate ways.

My first experience with this phenomenon came with the initial walk down the hall of the hospital. Acuity was not a problem. In the small hospital room I had not experienced much difficulty other than reaching for items that seemed to have an annoying habit of moving themselves just out of my reach as I extended my hand. When I stepped out into the larger world of the hallway, it was another story entirely.

I was assisted into the hallway by a physical therapist. Instantly I knew that I would do anything to get out of that situation. I have never had a panic attack before, but I experienced a major one at that moment. The different textures and colors on the walls and floors presented a moving and frightening pattern. Thinking about it later, I was reminded of a Disney movie where the trees in the forest slowly assumed frightening humanlike forms. It was more than my system could handle, even for just three minutes. I will never forget the sheer terror that accompanied that event.

For several months, interpretation of visual stimuli presented significant problems, particularly when there were large amounts of visual stimuli. My first impulse was to avoid these areas and the emotional reactions they provoked. Luckily my family pushed me to tackle these situations regularly, but they knew enough to let me take it slowly. Ultimately I became able to tolerate a trip to the mall or to Walmart.

I was also lucky in that I experienced a great deal of spontaneous recovery as a result of the healing process. Although I still experience problems when presented with truly unique visual stimuli, I have finally developed some coping strategies. Most recently the movie "Twister" reminded me that what is entertainment for others may prove torturous to me.

Tactile defensiveness

Occupational and physical therapists talk about the importance of understanding tactile defensiveness in children with neurological damage. Contact with their skin may be a most unpleasant experience for them. This can hold true for clothing as well as human touch. It is not uncommon to see this child become upset by hugs or certain articles of clothing. We often suggest choosing loose fitting clothes for these children and avoiding "surprise" touches from others.

This problem resolved itself pretty quickly in my case, thank goodness, because it was truly a life changing experience. I have always been a person who was eager to touch and hug. Suddenly any type of physical contact with another person became painful. I had always imagined that this type of pain occurred briefly. Someone touched you; it felt uncomfortable; they stopped touching you; and the pain stopped. What I experienced was quite different.

The pain lasted long after touch occurred. It was intense and felt as if separate pins soaked in a poisonous solution had been inserted in a million areas of my skin. Light touches were certainly the worst, but for the first two weeks even back rubs were torture. I promised myself that in the future I would be very observant of my students and their reaction to touch, especially those students who cannot verbalize their distress. How frightening to go through a day dreading the possibility of human touch.

Emotional issues

People with a head injury often experience a number of significant emotional issues. Initially both the individual and his family will go through a typical grieving process. This is difficult for everyone. There is also frustration as the individual goes through relearning skills. Once a certain level of rehabilitation has occurred and the problems are not as apparent, society places a number of demands on the person without recognizing the frustration and exhaustion he/she may be continuing to feel. In most extreme cases, significant personality changes or psychiatric issues may emerge. Understanding these issues and having a strong base of support from family and friends is the most important factor in recovery.

I have counseled a number of students and their families over the years and I was aware of these issues. For me, relearning self-help skills was probably the most difficult emotionally. Often I knew the steps that were involved, but getting my body to cooperate with me was tricky! It was these situations that were most likely to bring on tears and curses or avoidance on my part.

The other emotionally difficult aspect of this experience was dealing with the "whys" of my experience. I have gone through all the stages of frustration with the medical establishment. I have replayed the events immediately prior to the hemorrhage. I felt anxiety about what might happen in the future. Ultimately I have managed to do what I counselled in the past. Try to accept what has happened and go on with your life as it is now. Little did I know that my life philosophy would become a patchwork of my grandmother's homilies . . . you play the hand that is dealt you without crying over spilled milk.

I continue to deal with some emotional issues such as the "late-night-what-ifs". I still have physical limitations although they are not always apparent to others. In my eagerness to put this all behind me, I have difficulty acknowledging my limitations.

My goal for this year is to become more open about discussing these needs and asking for help or modifications when they are necessary. I have been reminded that this is what much of my work with students who are visually impaired was and is about. Now I have to "put my money where my mouth is."

I know that ultimately I will be a better psychologist as a result of these experiences. I will certainly be more empathetic with the students and their families. I am also certain as a result of this experience that family and friends can be an incredible source of support during difficult times, and I am so thankful to all of you who were there for me.

by Brenda Benner, Health Center Supervisor, TSBVI

Spina Bifida is a condition in which the vertebra fails to close at some point along the spine. The term "spina bifida" may include a closed lesion (spina bifida occulta) or open lesion (meningocele and myelomeningocele). Many other conditions can happen with this problem such as hydrocephalus, bowel or bladder dysfunction, and paralysis and lack of sensation below the level of the lesion. Each of these conditions may lead to its own set of problems, including visual impairment, bowel or bladder incontinence, deterioration in renal function, lack of mobility, and skin breakdown. Families, in conjunction with their primary care provider and school nurse, play a major role in the prevention of complications and the promotion of health and positive self-esteem in the child with spina bifida.

Bowel and bladder complications usually occur with myelomeningocele. Even myelomeningoceles in the low lumbar and sacral areas have some degree bowel or bladder dysfunction because the nerves from this area supply those organs. There are physical problems associated with bladder incontinence, but the emotional issues related to bowel control with the associated, odor, lack of positive self-esteem, and poor body image can lead to severe social problems.

Bladder incontinence is approached mostly by a medical model. Prevention of recurrent bladder infections is primary as kidney failure can cause death. Bowel training is not life threatening, and has more of a behavior management approach. Fecal incontinence in the school setting can be morally devastating to a school-aged child.

Setting up a successful bowel management program can be one of the most important things in your child's life. Remember that no single thing works, and patience is needed to find the right combination. Before starting a program simple documentation of "how" and "what" is happening with your child's bowel movements (BM's) is important. For at least a week note when and how (in toilet, or diaper, after enema or suppository, or set on toilet without results)your child has a BM. Note the consistency of the stool (hard like pebbles, soft and formed, or runny and loose). This information and the support of your medical resources should enable you to develop a bowel management program with the following guide.

Stool consistency: Your child's stool should be soft and formed like clay, not like hard rocks or watery. To get the consistency right give your child high fiber foods and at least 6 glasses of water or juice a day. Greasy foods or candy can cause accidents. Try to have the "right" foods available such as fruit or bran muffins. We have found that mixing grape juice with prune juice makes it more palatable.

Schedules for meals and toileting: Remember the colon is one of the most "regular" parts of the body. Your child should eat meals at about the same time every day (parents of diabetics learn to live with this rule strictly) and sit on the toilet after the same meal everyday. They should sit with their feet on the floor or on a footstool. While trying to have a BM have your child bear down, push on lower abdomen, cough, strain, laugh, blow, use digital stimulation, and ANYTHING that helps.

The body may need external interventions at first to get the schedule started. These interventions include:

  • Suppositories - (Ducolax or Glycerin) Insert while relaxed and side lying. After about 20 minutes sit on the toilet.
  • Enemas - (Therevac, Fleets, Fleets Mineral Oil, Babylax, Tap Water, or Saline Enema using a continence catheter) Enemas are useful for severe constipation or when other methods fail.
    Wean off of them as soon as possible.
  • Orals - There are three types of oral agents, bulking, stimulant laxatives, or stool softeners.
    Examples include:
    • Bulking - Metamucil, Fiberall, Citrucel, Fiber-Con
    • Stimulant - Senokot, Ex-Lax, Ducolax Tablets, MOM
    • Softeners - Colace, Milkinol, Surfak

As with any behavior program, praise your child for doing well. Talk to your child before the program, and let them know that you will work together to help him stop wearing diapers. Get out that old star chart, or make a new one. Other targeted behaviors should be put on hold during this intense training period. Young children should earn prizes from a treat box. As successes begin wean the treats to longer accident free periods. If your child has an accident, support them and focus on tomorrow.

Sometimes this program takes awhile, but it is worth it. Do not hesitate to enlist the help of your school nurse, as bowel continence is so important to your child. Pay attention to diet, water, and exercise and focus on stool consistency and work on timing. The following is a good recipe:

"Six Week Muffin"

  • 1 large box (20 oz.) Raisin Bran
  • 3 cups sugar
  • 5 cups plain flour
  • 5 tsp. salt
  • 4 eggs beaten
  • 1 cup oil
  • 1 quart buttermilk

Mix dry ingredients in a very large mixing bowl. Set aside. Mix together oil and sugar; add eggs and mix well. Add buttermilk. Add liquid to dry ingredients; mix well. Store in covered container in refrigerator and use as desired. To use, fill greased muffin pans 2/3 full. Bake at 400 degrees for 15-20 minutes. Batter will keep in refrigerator for six weeks.