Hypochondroplasia Care Team: Specialists for Your Child

Staff
By Staff
3 Min Read

Therapy and Daily Development Specialists

Depending on your child’s symptoms and needs, they may also benefit from specialists who monitor and manage development and any issues with their lungs, ears, or brain.

Physical Therapist

Physical therapists teach your child exercises to help them move more easily, get stronger, and relieve pain from an overly curved spine or legs.

They can also treat pain with various therapies like massage, heat, and cold. Physical therapists can help children maximize independence and participation in daily activities, says Sanchez-Valle.

Occupational Therapist

Occupational therapists can help your child develop practical adaptations that remove barriers at home and school, says Pekala. Adaptations like step stools can provide easier ways for your child to write, eat, and do activities related to daily care.

ENT (Otolaryngologist) and Pulmonologist

Ear, nose, and throat specialists (ENTs), also called otolaryngologists, treat ear infections, trouble hearing, and upper-airway issues. They may work alongside a pulmonologist if your child has sleep apnea — pauses in breathing while they sleep.

Together, they can help you decide on a sleep apnea treatment plan, which can include a machine to keep their airways open at night (CPAP) or surgery to remove excess tissue blocking their airway, like enlarged tonsils.

Clinical Geneticist

Geneticists diagnose and treat conditions caused by changes in your genes, like hypochondroplasia. A clinical geneticist and genetic counselor can help with several aspects of your child’s care.

  • Establish or confirm the diagnosis
  • Explain the genetic cause
  • Provide counseling to the family
  • Guide appropriate monitoring

You may also have concerns about whether or not your child will one day be able to have children and if those children would be affected by hypochondroplasia. A genetic counselor can help you understand how the mutation affects the family line.

Neurologist or Neurosurgeon

Some children with hypochondroplasia have seizures called temporal lobe epilepsy. A neurologist or neurosurgeon can help manage these seizures, as well as other neurological concerns surrounding the spinal cord or where the brain and spinal cord meet, says Sanchez-Valle.

Depending on your child’s symptoms, these specialists may recommend antiseizure medication.

Developmental Pediatrician

A developmental pediatrician focuses on screening your child for any learning problems and can get you set up with education accommodations, like tutoring and classroom adaptations if needed. These specialists work with your child’s individual strengths and needs to help them succeed in learning, says Pekala.

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