Families for HoPE has many ways for you to be involved with us and to connect with other families,

to get or to give support and encouragement, and to educate each other and the public about holoprosencephaly. We encourage you to explore them, join them, and post them on your pages, blogs or websites. The more posts Families for HoPE receives, the better our internet presence is, and then Families for HoPE can be found first as the face of HoPE in holoprosencephaly, rather than the discouraging medical reviews many of us found first. *Website: www.familiesforhope.org Please register here if you havent already for info, gifts & to be put on the mailing list for fundraisers, conferences, studies, etc. *Facebook pages: Families for HoPE: for families affected by HPE (members only) Holoprosencephaly and Families for HoPE, Inc. (public site) Families for HoPE, Inc. (public site) Families for HoPE: missing our kids! (members only) Creating awareness of Holoprosencephaly Cause Page *Yahoo Forums: Holoprosencephaly@yahoogroups.com *Fundraisers: We have annual fall fundraisers at which we sell our logo magnets, window clings, bracelets, t-shirts, hats and more. We like to sell awareness items to help get the word out about our group and our kids. *Family Conferences: We have bi-annual family conferences in conjunction with the National Institutes of Health, The Carter Centers for Brain Research on Holoprosencephaly and the Kennedy Krieger Institute. The location varies each year, as do the topics and attendees. These are an excellent way to learn more about HPE and to connect with the friends you have made online. They are an informative as well as relaxing time to meet the families, see how other families cope and to make new friends. Again, we welcome you and invite you to join us in whatever way you feel comfortable. If you have further questions, please call us at the number above, find us online, or e-mail us at info@familiesforhope.org. We look forward to getting to know you, your child and your family better! Sincerely, Your friends at Families for HoPE, Inc.

Families for HoPE Child Database Information Sheet Please complete as much as you feel comfortable sharing. We do not give this information to anyone, nor is our database visible to the public. Please fill out and return to info@FamiliesforHoPE.org. Childs Full Name: Gender: Degree of Severity: Date of Childs Birth: When Diagnosed? Pre-natal/ Post-natal age: Primary Contact Info: Name: Relationship to child: E-mail Address: Cell Phone: Street Address: City, State, Zip: Daytime Phone Number: Evening Phone Number: Facebook Name: Date of Childs Death: Scans seen by Carter Centers? Y N Primary Language Spoken in Home: Primary Hospitals: Secondary Contact Info: Name: Relationship to child: E-mail Address: Cell Phone: Street Address: City, State, Zip: Daytime Phone Number: Evening Phone Number: Facebook Name:

Siblings names/ages: Childs or Familys Website/blog: Would you like us to publish your site on our website or blog? Y N Would you be willing to support other families through parent-to-parent contact? Y N Would you be willing to volunteer for Families for HoPE? Y N Please list any specific areas of interest: Please briefly note any further information about your child you are comfortable sharing, such as: Hearing Impairment: profound bilaterally; or Feeding Type: oral, soft purees only. (We gather this information to better match our families in parent-to-parent support, and to inform you of studies in which you might be interested in participating.)
Diagnosed Chromosome/Genetic Abnormality: Sleeping Issues: Neurological Issues: Endocrine Issues: Cranial Deformities: Facial Clefts: Vision Impairment: Hearing Impairment: Dental Issues: Feeding Type: Digestive System Disorders: Hepatic Disorders: Renal/Urinary Issues: Movement issues: Neuromuscular Issues: Orthopedic/Musculoskeletal: Therapies performed: Cardiac/Circulatory Issues: Pulmonary/Respiratory Issues: Hematologic/Immunologic Issues: Allergies: Other Secondary Conditions or Issues not listed:

Common Conditions Secondary to HPE

Cleft Lip or Palate Most children with Holoprosencephaly have many other challenges, some related to the HPE and some related to the underlying cause of their HPE.
Because HPE is a midline defect, some infants are born with a cleft lip and/or cleft palate. Surgical repair of the lip and/or palate may be considered, particularly to make feeding easier. It should be noted, however, that feeding problems might not be eliminated by the repair of the clefting, and the repair surgery can often affect the childs breathing. Repair of a cleft lip &/or palate is suggested between 6-12 months of age, to allow the tissue to grow enough to complete the repair. Consideration should also be given to stability of airway, risk of infection, etc.

Intestinal Gas
Infants and children with HPE commonly have problems handling intestinal gas due to excessive air swallowing. Frequent burping during and following feedings can often relieve this discomfort. A variety of medications can help to decrease the gas and/or promote stomach emptying.

Elimination
Constipation can be common, especially for those children with high muscle tone, spasticity, and for those who do not move as much as a typical child. This problem can often be improved by medication, altering the diet or by using suppositories.

Feeding
Feeding can be a major challenge for many infants and children with HPE. Many show slowness in eating, frequent pauses while eating, and rapid loss of interest. Spitting up or vomiting may occur after feedings, and there is a risk of aspiration into the lungs. Alternate feeding methods may be very helpful such as tube feedings. For some children, swallowing and chewing can be improved through an intensive course of VitalStim therapy performed by a qualied speech or feeding therapist.

Fluid Balance Diabetes Insipidus

Many children with HPE have a condition known as Diabetes Insipidus (DI) which is when the kidneys are unable to conserve water. Symptoms to watch for are: very heavy diapers (high urine output) and excessive thirst. Once diagnosed, the signs of DI are irritability, water retention and dehydration. In some children with HPE, DI is able to be managed by strict control of uid intake. In other children, hormone replacement therapy is effective.

Gastrostomy Tube (G-Tube)

When oral feeding becomes too difcult, a gtube (gastrostomy tube) may be considered. This is a tube placed through the abdominal wall into the stomach so that liquid feedings and medications can be put directly into the stomach. If gastroesophageal reux or vomiting is present, another procedure called a nissen fundoplication may be performed to tighten the inlet to the stomach. These two surgeries are typically performed at the same time.

Temperature Control
Temperature control can be quite erratic in infants and children with HPE. Elevated temperatures may occur in the absence of infection or other denable cause. At other times, the body temperature may be subnormal for no apparent reason. Adjustments in the child's environment may be helpful in keeping the child's temperature within a normal range.

Motor Skills
Virtually all infants and children with HPE have deciencies in motor skills. There are some children with HPE who are successful in walking or crawling. Others are able to use assistive devices (walkers, gait trainers, etc.) to achieve independent mobility while others are wheelchair dependent. Head control can be difcult for infants and children. Reaching and grabbing are seen in some infants and children. Most children with HPE who do improve their motor skills do so at a slow and quite delayed pace compared to typical children. Physical and occupational therapies are commonly recommended and can bring improvement.

Seizures
Many children with HPE are susceptible to seizures. There are various types of seizures, and frequency of seizures may change considerably over time. Many children with HPE who are affected by seizures respond well to anticonvulsant medications. There are many such medications on the market, and the child's neurologist will determine which medication or combination of medications will be best for treating the child's seizures.

Sleeping Problems
Children with HPE frequently have difculties sleeping, falling asleep or staying asleep. The hypothalamus helps to set the awake/sleep cycles. Bedtime sedatives have been benecial for some children, but many families have an ongoing struggle with this problem. Many children with HPE have some degree of sleep apnea as well, either central (caused by the brain) or obstructive apnea that may or may not be able to be controlled.

Hypertonicity
Often, children with HPE have increased muscle tone to the point of spasticity. Spasticity is often evident when the child is stimulated, excited, or in distress. Arching of the back, thrusting of the legs and exing of the arms are common in these circumstances. When relaxed, they may appear "oppy" due to poorly developed control of their muscles.

Breathing Issues
Many children with HPE have issues with breathing of some variety. This can range from a mild case of tracheomalasia (oppy windpipe) that the child might outgrow as he/she ages, to a more advanced case of stridor (noisy breathing), to a severe case of breathing obstruction in the nose or throat requiring a tracheostomy (breathing tube).

Microcephaly/Hydrocephaly
The brain of an infant or child with HPE is often quite small. If there is no excess of cerebrospinal uid around the brain, the head is also small (microcephaly). When there is excess cerebrospinal uid, the head size may appear to be normal or enlarged. Head enlargement can make caring for the child quite difcult and excess uid can result in pain and discomfort to the child. An operation may be recommended to shunt the uid by way of ne tubing from the head to another part of the body, such as the abdomen, where the uid can be absorbed back into the blood stream.

A child with Holoprosencephaly might have none, some or many of these additional challenges, or they might have other issues not listed here

Smell
It is often said that children with HPE do not have a sense of smell. This is perhaps due to the improper formation of the olfactory nerves and nasal cavities. This is not always the case, however, and many children with HPE are able to enjoy smelling the roses.

Language If you think your child has any of these additional conditions, please see the appropriate specialist to help with diagnosis and treatment
Full development of language is not usually seen in children with HPE; however, there are children who can communicate with a limited vocabulary of words and phrases and/or body language. Some children with HPE can understand sign language and use simple signs to express themselves. A variety of high and low tech augmentative communication devices can also be effective for a child with HPE to help communicate with others.

Startle Reflex
Many children with HPE show signs of an overdeveloped startle reex. They are startled easily and jump what might be considered a small scare. This is often confused with infantile spasms and children can have a combination of both.

Cognition
Many children with HPE have shown evidence that they can learn and remember. They can anticipate games that involve touching or tickling and can recognize familiar voices and sounds. Some children have proven the ability to learn colors and shapes, and other basic information. This capability is somewhat determined by the severity of the HPE and related formation of the brain, but can also be affected by the amount and intensity of early intervention. Most children with HPE have shown that they comprehend speech and can communicate this understanding thru simple facial expressions, vocalizations and some speech or movement. Also, many children are able to use simple switch devices to help communicate, facilitate play and other interactions.

Hearing
Virtually all children with HPE demonstrate that they can hear. They react to noises, learn to turn their heads to sound, and in time develop the ability to recognize certain voices and noises and react to those sounds in predictable ways. The children with HPE who are deaf or hard of hearing usually have additional conditions that might have cause the hearing loss.

Vision
Unless the eyes are involved in the malformation, children with HPE usually demonstrate the ability to see. They can focus on faces and objects, develop the ability to track moving objects, and respond to facial expressions. The time at which these abilities appear is often delayed from the normal schedule of development. Some children with HPE have a condition called Cortical Vision Impairment (CVI). This is where the optic nerves are small and underdeveloped, causing less information to be sent to the brain, thus causing more of a challenge for the brain to interpret what is being seen. Many children with CVI and HPE make visual progress with the help of vision therapy.

Disclaimer
Families for HoPE, Inc. is a nonprofit organization formed by families of individuals diagnosed with holoprosencephaly (HPE) and related brain malformations to provide support, education and otherwise address the needs of families and individuals with HPE. Families for HoPE, Inc. does not provide medical advice or diagnoses. Information and comments contained in this paper reflect the personal opinions of the author and are based upon the author's experience and education. The author is not a doctor and has no medical expertise in diagnosing or treating HPE or any other medical or psychological conditions. Nothing in this document should be construed as medical advice and you should absolutely not make any changes in medical treatment without consulting your or your child's treating physician or mental health care professional.

Common Medical Tests

BMP Children with Holoprosencephaly often have many additional complications, so chances are your child will require some or many of these tests based on their individual needs
The basic metabolic panel (BMP) is a set of seven to eight blood tests that measure certain nutrients and electrolytes essential for basic body functions. The basic metabolic panel typically measures the serum or plasma levels of sodium, potassium, chloride, and bicarbonate in the body. The BMP is also used to test other electrolytes such as: blood urea nitrogen (BUN), creatinine, and glucose to check for or rule out diabetes or kidney disease.

What to expect? Your child may need to be sedated for this test, because they need to remain extremely still, and an IV may need to be started. You may be able to watch the procedure from an area shielded from radiation.

EEG
An electroencephalogram (EEG) is a test that measures the electrical activity in the brain, called brain waves. An EEG measures brain waves through small button electrodes that are placed on your child's scalp. An EEG is a painless recording of the brains electrical activity. Small gold cups, called electrodes, will be used to listen to your childs brain waves. These will NOT shock your child. What to expect? Your childs physician may request that your child be sleep deprived for this test. The technologist measures and marks 30 spots on your childs head. This is done through the hair, and no hair needs to be removed. These marks indicate where the 30 electrodes will be applied. The electrode sites need to be very clean in order to get the best recording possible, so the sites are rubbed with a mild cleanser and a paste or glue will be used to apply the electrodes to your childs head. The application procedure takes around 30 minutes, and your childs head needs to be still for the whole procedure. The length of time the EEG is recorded depends on what test your childs doctor has ordered. At the end of the recording, the technologist will painlessly remove the electrodes with water or solvent, depending on what was used to put on the electrodes.

CBC
A complete blood count (CBC) is a common blood test used to evaluate overall health and detect a wide range of disorders, including anemia and infection. The test measures: Hemoglobin, the oxygen-carrying protein in red blood cells Hematocrit, the proportion of red blood cells to plasma in the blood White blood cells, which ght infection Platelets, which help with blood clotting A complete blood count may be done as part of a routine medical examination. Abnormal increases or decreases in cell counts may indicate an underlying medical condition that warrants further evaluation.

CT Scan
A "CT" or "CAT" scan are the common terms for "computerized tomography" (or computed axial tomography). The CT scanner is a doughnut-shaped machine that uses advanced x-ray technology to take crosssection pictures of your body, called "slices." A CT scan can visualize the brain and other parts of the body that cannot be seen on regular x-ray examinations.

Echocardiogram
An echocardiogram (ECG) is a painless, non-invasive test that uses ultrasound to study the structure and function of the heart. There is no radiation involved in this test. What to expect? An ECG is very similar to an ultrasound you experienced during pregnancy. Your child will be placed on a table in a regular doctor's examination room, not an operating room. Conductive gel will be placed on your childs chest, and then a transducer will be placed on top of the gel. The transducer is able to "broadcast" high frequency sound waves into your childs chest cavity. These sound waves bounce off of the heart and the results, or echoes, are picked up on the ECG machine, which makes pictures based on the sound waves. An echocardiogram usually takes between 30 minutes and an hour, in order for the doctor to perform a thorough examination of the heart's function.

What to expect? Due to the need to remain quite still, your child may need to be sedated for this test and an IV may need to be started. Jewelry, glasses and objects containing metal must be removed prior to the procedure. The technicians need to be informed if your child has any metal implants or objects in his/her body (such as a cochlear implant).

Sleep Study
A sleep study or polysomnogram (PSG), is a non-invasive, painless test that records and measures various functions during various stages of sleep. Small electrodes are placed on numerous areas of the body (head, face, chest, legs) to monitor specic measurements of breathing, brain activity, muscle movements, eye movements and leg movements while your child is sleeping. What to expect? You will typically bring your child to the study location in the evening, in order to spend the night at the facility. You will prepare your child for bed, and the technician will place numerous electrodes on the childs body. Then, the child needs to sleep a typical nights sleep for the study to be accurate. Similar in process to an EEG, all measurements are taken using sticky electrodes or probes, and belts around your childs chest. These will NOT shock your child. There is usually a camera in the room as well, so they record the movement and activity or your child throughout the night, to correlate with the electronic results. You should be able to sleep in the room with your child. The results will not be given immediately, but will typically return in several weeks after your childs study has been read and analyzed. At that point, depending on the results, further action or studies may be recommended.

Lumbar Puncture
A lumbar puncture (an LP) is the insertion of a needle into the uid within the spinal canal. It is termed a "lumbar puncture" because the needle goes into the lumbar portion (the "small") of the back. An LP is most commonly done for diagnostic purposes, namely to obtain a sample of the uid in the spinal canal (the cerebrospinal uid) for examination.

MRI
MRI (magnetic resonance imaging) is a diagnostic procedure that uses a combination of a large magnet, radio frequencies, and a computer to produce detailed images of organs and structures within the body.

Most of these tests are fairly non-invasive, but please keep in mind, your child might require additional special treatment during a test due to his or her specific physical needs, personality or concerns

Swallow Study We encourage you to be a strong advocate for your child: Speak Out and Speak Loud especially if you have any questions, concerns or complaints
A videouoroscopic swallow study (also commonly referred to as modied barium swallow study) is an objective assessment of swallow function. The test is performed with both a pediatric radiologist and speech language pathologist with specialized training in pediatric dysphagia. The purpose of the test is to assess for aspiration (food/liquid entering the trachea) during oral feeding. What to expect? You may remain with your child during the testing. You child will be positioned in a typical feeding position consistent with his/her age & development. Your child will be given a variety of food consistencies (thin liquid, thick liquid, puree, soft solid, hard solid) injected with barium. The study assesses all 3 phases of the swallow from the oral preparatory phase, oral initiation phase and the pharyngeal phase.

What to expect? The physician may require that food and water be withheld in the hours prior to the procedure because anesthesia will be required for the procedure. An anesthesiologist should speak with you prior to the procedure to obtain medical history. You may be allowed to be present with your child during the procedure, and you may be asked to wear a surgical gown over your clothing. Most physicians explain each step of the procedure as they go along and will provide you with color photos of the various sections of your childs upper GI tract. The physician may use the endoscope to take tissue biopsies to test for bacteria or infection, and as a result, if your child has a g-tube, you may notice some brown blood particles in the stomach residual when you resume your childs feedings. Following the procedure, your child is taken to a recovery area for observation. Once your child is awake and responding, you will be allowed to leave.

Upper GI Endoscopy
This is a procedure for looking inside the upper gastrointestinal tract which includes the esophagus, the stomach, and the duodenum, the beginning of the small intestine. Upper GI endoscopy is performed by a gastroenterologist, who uses an endoscope to diagnose and, in some cases, treat problems of the upper digestive system. An endoscope is a long, thin, exible tube with a tiny video camera and light on the end. By adjusting the various controls on the endoscope, the gastroenterologist can safely guide the instrument to carefully examine the inside lining of the upper digestive system. The high quality picture from the endoscope is shown on a TV monitor giving a clear, detailed view of the upper GI.

Disclaimer
Families for HoPE, Inc. is a nonprofit organization formed by families of individuals diagnosed with holoprosencephaly (HPE) and related brain malformations to provide support, education and otherwise address the needs of families and individuals with HPE. Families for HoPE, Inc. does not provide medical advice or diagnoses. Information and comments contained in this paper reflect the personal opinions of the author and are based upon the author's experience and education. The author is not a doctor and has no medical expertise in diagnosing or treating HPE or any other medical or psychological conditions. Nothing in this document should be construed as medical advice and you should absolutely not make any changes in medical treatment without consulting your or your child's treating physician or mental health care professional.

Common Medical Abbreviations

ACC ADL AFO amt AROM ACC bid BiPAP BM BP CAP CBC CHD CH CI CL CLP CM CNS CP CPAP CPR CPT CT Scan CVI d/c DAFO DC DHHS DI DME DNR DT DTP Dx ECG/EKG ECHO EEG EI ENT FTT GI G-J Tube gm G Tube HC HepB HI HIB HPE I&O IEP IFSP IS IV J-Tube Agenesis of the Corpus Callosum Activities of Daily Living Ankle Foot Orthotic (stationary) Amount Active Range of Motion Augmentative communication/aug. comm Twice daily Bi-level Positive Airway Pressure Bowel Movement Blood Pressure Childrens Aid Program Complete Blood Count (lab test) Congenital Heart Defect Chromosome Cochlear Implant Cleft Lip Cleft Lip and Palate Case Manager Central Nervous System Cerebral Palsy Continuous Positive Airway Pressure Cardiopulmonary Resuscitation Chest Physiotherapy Computed Tomography Scan Cortical Vision Impairment Discontinue Dynamic Ankle Foot Orthotic (hinged) Discharge Dept. of Health & Human Services Diabetes Insipidus Durable Medical Equipment Do Not Resuscitate Developmental Therapy/Therapist Diptheria, Tetanus & Pertussis vaccine Diagnosis Electrocardiogram Echocardiogram Electroencephalogram Early Intervention Ear, Nose, and Throat Failure to Thrive Gastrointestinal Gastrostomy Jejunostomy Tube Gram Gastrostomy Tube/Button Head Circumference Hepatitis B vaccine Hearing Impairment Haemophilus inuenzae, type B vaccine Holoprosencephaly Intake & Output Individualized Education Plan Individualized Family Service Plan Infantile Spasms Intravenous Jejunostomy Tube LE LOC mcg mg MH MIH-V ml MMR MR/DD MRI NG Tube NICU NICN NIH NPO NS O2 OG Tube OM OPV OT PA P-ACC PE or PX PE Tubes per PICU po PRN PROM PT Qd Qh QID ROM RSV RT Rx SI SL SLP SPOE SSA SSI stat ST T&A tid TPN TPR Tx UTI VI VNS VS WNL Lower Extremities Level of Care Microgram Milligram Malignant Hyperthermia Middle Interhemispheric Variant Milliliter Measles, Mumps and Rubella Vaccine Mental Retardation/Developmental Delay Magnetic Resonance Imaging Nasogastric Tube Neonatal Intensive Care Unit Neonatal Intensive Care Nursery National Institutes of Health Nothing by mouth Normal Saline Oxygen Oral/Gastro tube Otitis Media (ear infection) Oral Polio Vaccine Occupational Therapy/Therapist Prior Authorization Partial Agenesis of the Corpus Callosum Physical Exam Pressure Equalizing Tubes (for ear infections) By or through Pediatric Intensive Care Unit By mouth When necessary Passive Range of Motion Physical Therapy/Therapist Every day Every hour Four times daily Range of Motion Respiratory Syncytial Virus Respiratory Therapist Prescription Sensory Integration Semi-Lobar Speech/Language Pathologist Single Point of Entry Social Security Administration Supplemental Security Income Immediately Speech Therapy/Therapist Tonsillectomy &Adenoidectomy Three times daily Total Parenteral Nutrition Temperature, Pulse, Respirations Number of treatments Urinary tract infection Visual Impairment Vagus Nerve Stimulator Vital Signs Within Normal Limits

Common Therapy Options for Children with HPE

Augmentative communication, sometimes referred to as alternative communication (AAC) is a method of communication used by children and adults with severe speech and language disabilities. The methods of AAC will vary and be personalized to meet the needs of the individual. Tools used may range from a basic picture communication board to a dedicated, high-level electronic speech generating device (SGD). Some simple AAC programs can now be found on most smartphones. Developmental therapy is a kind of guided play for children creating learning environments and activities to promote skills in all areas of a child's development. Much of the therapy is child-directed, meaning the therapist follows the childs lead. Therapists also show parents techniques for behavior management and modeling within the context of everyday experiences and environments. Hippotherapy is a specialized form of physical therapy which uses a horse as a therapy tool to address movement disorders. A hippotherapy treatment is conducted by a licensed and specially trained health care provider, most often a physical or occupational therapist or speech language pathologist. For the child with HPE and low muscle tone or poor motor control, the horse offers a movement experience that cannot be replicated in any clinic. The symmetric movement of the horse mimics human gait and provides neuromuscular information to the childs nervous system. Pediatric feeding therapy is a combination of treatments that help children who have difficulties related to eating or drinking. There are many different types of feeding problems, and the therapy is individualized for each child. Pediatric occupational therapy focuses on a childs sensory and motor skills, emotional development, self-care abilities and play skills to help improve successful functioning in the home, at school and in the community. An Occupational Therapist (OT) is skilled at assessing a childs level of function in areas such as fine and gross motor, visual perception, visual motor, self-cares/ activities of daily living, feeding and sensory processing. In addition, he/ she is trained in assessing the need for adaptive equipment and technology, and making the proper recommendations. Pediatric physical therapy is a health care specialty that evaluates, diagnoses, and treats disorders of the musculo-skeletal system in children. Physical therapy (PT) is provided by physical therapists, who are licensed health care professionals with a masters or doctorate degree in physical therapy. A physical therapist assesses areas concerning joint motion, muscle control, strength, coordination, balance, movement patterns, sensory issues, mobility, gait and equipment. Pediatric speech and language therapy provides assessment and treatment of a childs communication skills including speech, language, play and social interaction development. The focus of treatment may be on improving oral-motor skills, developing alternative means of communication, and improving language and cognitive skills. Vision therapy is an individualized treatment program designed to correct visual-motor and/or perceptual-cognitive deficiencies Vision therapy trains the entire visual system which includes eyes, brain and body. However, it is important to understand that vision therapy is a form of neurological training or rehabilitation (it can be compared to some forms of occupational therapy or physical therapy). The goal of vision therapy is to train the patient's brain to use the eyes to receive information effectively, comprehend it quickly and react appropriately. Other less common therapy options include: Art Therapy, Music Therapy, Play Therapy and Water Therapy.