Category:New Diagnosis
From Holoprosencephaly
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Holoprosencephaly is most often diagnosed in utero or in early infanthood. There are rare cases where it is identified in late childhood or at other times, but the vast majority of cases are diagnosed early in life.
Diagnosis In Utero
Holoprosencephaly can be diagnosed in utero as early as 14 weeks gestation by ultrasound. Most often it is diagnosed during a routine checkup. If the OB notices any abnormalities, you are likely to be referred to a perinatologist to do further analysis and evaluation. Using more advanced ultrasound machines, the perinatologist will re-evaluate and determine whether an abnormality exists, and the extent of the abnormality.
If an abnormality is confirmed, the perinatologist may describe the severity of the non-separation of the brain. Additionally, they will evaluate the fetus to determine whether there are other problems in other organs or body systems.
You may be referred to a genetic counselor, who will give you the option to do genetic testing to determine if there is a genetic cause for the brain malformation. Your blood will be drawn to see if you have a genetic disorder which was inherited by your child. This, in turn, will tell you about the chance of recurrence as well as the prognosis of the child.
If you haven’t had amniocentesis, you may be offered the option. During the procedure, a physician will insert a needle through the abdominal wall into the uterus and aspirate (withdraw) a small amount of amniotic fluid that surrounds the baby. The needle does not come in contact with the baby. This is useful in diagnosing chromosomal abnormalities, such as trisomy 13 or trisomy 18. It may also detect other problems like infection or risks such as cytomegalovirus.
Finally, the doctor may decide to do a fetal MRI, which is an MRI of the baby while in utero. These aren’t as accurate as MRI’s done once the baby is out of the womb, but they do provide more information than ultrasounds and may help the doctors make decisions for prenatal care.
Once the doctors have as much information as possible, they will advise you on how to take your next steps.
If the diagnosis was made before 20 – 24 weeks gestation, the perinatologist will give you the option to abort the fetus. Many doctors believe that children with holoprosencephaly can not have a meaningful life and they will suggest for the pregnancy to be terminated.
However, not all parents choose to abort. Most information about HPE is outdated and many doctors do not know that some children with HPE can have a long life span, learn and have meaningful lives. Before you make this decision, visit our Meet the Kids section or some of the websites of children with HPE and learn about some of the families who are living with this diagnosis.
If you have decided to continue with the pregnancy, you will be closely monitored by a perinatologist. You will be asked to have frequent appointments where they will observe the fetus with 2d or 4d ultrasounds.
It is common for parents of children with HPE to be given a very dire prognosis and to be told that their child has a very small chance of survival.
However, the reality is that many children do survive and lead meaningful lives, some of those well into adulthood.
Magnetic Resonance Imaging (MRI), the only reliable method to diagnose Holoprosencephaly, has only been available since the 1970’s. So it is possible that there are individuals with HPE who have lived a long life but weren’t diagnosed as having HPE due to the lack of adequate technology in the past.
So even though it is true that some children with HPE die at birth or soon after birth, it is important to know that many do survive and numbers regarding survival rates may be outdated.
According to Nancy Clegg of the Carter Centers, "In the six years I've been doing this, I have never had a parent tell me they regretted seeing their sick baby, holding her, telling her how much they love her and want to be with her, even if they just have an hour together, they get to cut a lock of hair, cuddle, take pictures, do what they needed to do for a lifetime." [1]
Preparing for the birth of your child with HPE
Before your child is born, you may want to look into the following:
- Find a photographer to photograph your baby as soon as he is born. There are photographers that specialize in taking photos of children at birth.
- Talk to the social worker at the hospital about government and state programs that can help you. Find out about medi-cal, medicaid, and your local Early Start program.
- Take a tour of the NICU at the hospital where you will deliver and meet the neonatologists.
- Contact the Carter Centers to learn more about Holoprosencephaly
Once you have prepared, it’s just a matter of waiting until your child is born.
Vaginal or C-section Delivery?
Many parents who decide to carry the pregnancy to term will face the issue of whether to have the baby through c-section or vaginal delivery.
There may be complications that negate the possibility of a vaginal delivery, such as a hydrocephalus, in which the baby’s head is enlarged and may not fit through the birth canal.
If there are no obvious complications, it is possible for the parents to make the decision on how to deliver the baby.
Depending on the severity of the baby’s condition, doctors will recommend a course of action. They may suggest having a vaginal birth to give the baby the chance to prove their compatibility with life. Or, they may suggest a c-section to help the baby survive. Generally, it is well known that a c-section is less stressful on the unborn child.
Unless there is a medical reason to choose either type of delivery, this is a personal choice.
Before your delivery, you will be asked what level of medical involvement you wish to follow with your child. You will be asked if you wish to establish a Do Not Resuscitate policy, or whether you will do everything possible to keep your baby alive. This may be a very difficult decision to make; it's important for you to ask questions and be as informed as possible about what measures can be taken to help your child at birth so you may give them a clear position.
The birth of your baby with HPE
Immediately after the birth of your baby, he/she will be assessed to determine what level of medical attention needs to be given. If your baby is breathing on his/her own, they will then determine whether your baby has other problems. They will also determine whether your child is able to feed on his own. If your child is able to breath, regulate his temperature, and feed without assistance, you may be able to take your child with you to your room.
If your child has any problems, he will be taken to the NICU neonatal intensive care unit. If the hospital where you gave birth does not have a NICU, your baby will be flown to the nearest hospital with a NICU.
At the NICU, your baby will be assessed and all the medical attention he/she needs will be provided for.
Once my baby is home
Once your baby is home, you will want to make sure you have as much help as you need to ensure all of your baby's needs are met. If your baby has many medical needs, this may include nursing, hospice care, and respite care. Additionally, read through our Early Intervention section to learn about government programs that will provide therapies for your child.
You may also wonder what doctors your child will need to see. This varies depending on your physical location and the doctors available in your area, plus the expertise of the doctors near you. For example, your pediatrician may have experience with neurological disorders and handle the case without referring you to a neurologist.
In general, your primary pediatrician is responsible for well child care and treating childhood illnesses. She/he will oversee your child's health care and development, answer you questions and can refer you to a specialist when appropriate.
Some medical specialists you may encouter include:
Neurologist: Specializes in the nervous system and development
Ophthalmologist: Specializes in eye and vision problems
Gastroeneterologist: Specializes in digestive problems
Orthopedist: Specializes in bone growth and development
Geneticist: Specializes in genetic disorders
Endocrinologist: Specializes in gland disorders and hormone imbalances
Pulmonologist: Specializes in respiratory problems and conditions
ENT: Specializes in problems related to ears, nose and throat
Depending on your child's needs, there are many specialists or therapists who could be involved with your child's care. They may include an audiologist for hearing, a Nutritionist for advice on nutrition, a Speech Therapist for language and speech, an Occupational Therapist for fine motor and daily living activities, and a Physical Therapist for assistance with motor skills, such as crawling and walking. These specialists work on referal from your doctor.
Misconceptions about HPE
Because of outdated information, a misconception often exists.
HPE isn't a condition in which the brain deteriorates over time. Although serious seizure disorders, autonomic dysfunction, complicated endocrine disorders and other life-threatening conditions may be associated with HPE, the mere presence of HPE does not mean that these serious problems will occur or develop over time without any previous indication or warning. These abnormalities are usually recognized shortly after birth or early in life and only occur if areas of the brain controlling those functions are fused, malformed or absent.
If the brain and brainstem are able to regulate normal body functions from birth, you wouldn't typically expect that to change unless they are damaged by some kind of injury, surgery or illness.
Some things to keep in mind:
-Seizures may develop over time with the highest risk before 2 yrs of age and the onset of puberty. Most are managed with one medication or a combination of medications. Typically, seizures that are difficult to control appear soon after birth, requiring more aggressive medication combinations/doses.
- Most children with HPE are at risk of having elevated blood sodium levels during moderate-severe illnesses, that alter fluid intake/output, even if they have no previous diagnosis of diabetes insipidus or hypernatremia.
Prognosis of children with HPE
After your baby is born, you will wonder what his life span will be, what his capacities will be, what quality of life he will have.
Every doctor, and every parent of a child with HPE, will tell you that every child is unique. The severity of the diagnosis is not a clear indication of your child’s capabilities.
Only your child can tell you what he will be able to do.
For most families this is very difficult to understand. Parents want to know what to expect for their children, what to prepare for, what to hope for. However, it is completely impossible to have any idea what skills the child may develop. This is determined by too many different factors which make it impossible to know what to expect.
Physical, Occupational, Speech and other therapies help children with Holoprosencephaly maximize their capacities. Your therapists will help you understand your child's capacities and limitations, and as a team you will determine what goals to set for your child.
Please read through our Special Considerations section to learn more about ways you can help your child to learn and develop. Additionally, learn about Therapies and Early Intervention.
Sources: MRI History
