MaineHealth Pediatric Specialty Care Portland provides expert evaluation, diagnosis and treatment services to newborns, children and young adults with a known or suspected inherited disease. We also provide care coordination for children with congenital birth defects and metabolic disorders. With board-certified clinical geneticists, master’s level genetic counselors and specialized nursing support, ours is the most comprehensive program of its kind in northern New England.
Comprehensive care for children with genetic disorders
Our involvement in genetics research and clinical trials gives patients and families access to the latest pediatric genetics knowledge and treatment options. Our team provides complete metabolic services, including a clinical nutrition services, genetic counselling, medical management and family support for newborns, children and young adults with genetic metabolism conditions.
In addition to seeing patients in our Portland location, we also provide regular pediatric genetic disorder clinics across Maine. Inpatient care is available at MaineHealth Barbara Bush Children's Hospital. We provide 24-hour on-call coverage for current patients and families, as well as urgent consultations for hospitalized patients.
Learn more about our pediatric genetic care practice
- Cystic fibrosis
- Down syndrome (Trisomy 21)
- Skeletal dysplasias
- Fragile X syndrome
- Hemophilia
- Jewish heritage disorders
- Klinefelter syndrome
- Lysosomal storage diseases
- Marfan syndrome
- Triple X syndrome
- Trisomy 13
- Trisomy 18
- Turner syndrome
- Chromosome abnormalities
- Birth defects
- Developmental delays
Today there are more than 1,000 genetic disorders for which testing can be performed. We provide the most current and comprehensive testing capabilities, including:
- Prenatal testing including maternal serum screening, fetal ultrasound, amniocentesis and chorionic villus sampling
- Newborn screening
- Cytogenetic testing (chromosome studies) which looks at the number or shape of chromosomes
- Fluorescence in situ hybridization (FISH) testing which is used to detect common chromosome problems caused by an extra chromosome, such as Down syndrome
- Biochemical testing which measures the level of protein or enzyme present to help determine if the gene that produces that protein is functioning properly
- DNA testing is performed when scientists know exactly where a gene is located on a chromosome and what changes in the gene cause a specific disease
Treatment for genetic disease is highly individualized. Our team provides and/or coordinates an extensive range of services tailored to the unique needs of each patient and family, including:
- Evaluation & diagnosis
- Ongoing management of complex medical care for individuals with known diagnoses
- Drug treatment
- Genetic counseling
- Management of inborn errors of metabolism including enzyme replacement therapy for lysosomal storage diseases
- Bone marrow stem cell transplantation
- Referral to the numerous other pediatric medical and surgical subspecialty services, as well as access to family support resources
- When there is no effective cure or treatment for a genetic disorder, we provide supportive care for patients and their families in coordination with their local health care providers
Our exceptional pediatric metabolism program includes specialty medical services, education and care coordination for children with diagnosed with genetic metabolic disorders. Our care team includes board-certified physicians with extensive expertise in metabolic disorders, a dietitian, genetic counselors, a licensed clinical social worker and a parent liaison. Services include:
- Hospital and home visits for families
- Nutritional assessment, diet prescription and management with a specialized metabolic dietitian
- Information and education about metabolic conditions for families and other care givers (schools, daycares work etc.)
- Referrals to other specialists
- Parent-to-parent support
- Twice monthly metabolism clinic
Conditions Commonly Treated
- Biotinidase deficiency
- Galactosemia
- Glycogen storage disorders
- Homocystinuria
- Maple syrup urine disease (MSUD)
- Phenylketonuria (PKU)
- Fatty acid oxidation disorders (including MCAD, LCHAD, VLCAD)
- Organic acid disorders (including propionic acidemia and isovaleric acidemia)
- Amino acid disorders (such as tyrosinemia)
- Urea cycle disorders
Metabolism Clinic
Proper nutrition and careful monitoring play a crucial role in managing inborn errors of metabolism, which are relatively rare. That’s why patients are best served by clinics that specialize in these disorders. Our twice monthly metabolism clinic provides thorough evaluation, treatment planning and ongoing management for exceptional continuity of care. Issues addressed during clinic include:
- Medical and family history
- Nutritional needs
- Medical management
- Educational needs
- Genetic counseling
- Laboratory follow-up
