Thanks to advances in medical research, doctors today know much more about genetics than ever before. Armed with that knowledge, our genetic specialists can more accurately determine if an illness is genetic, and if it is, whether it's inherited from generation to generation or the result of a mutation in one of your child's genes. Knowing the cause of your child's condition gives us the ability to determine the best course of action and develop a treatment plan that can help your child and your family live the best life possible.
Explaining DNA mutations
In the video below, nurse practitioner Becky Althaus explains DNA mutations, the role they play in cancer and how understanding them can help lead to cancer care, prevention and perhaps even a cure in the future.
Clinical genetics services
Cook Children's clinical genetics services provide vital information regarding the causes, outcomes and risks for recurrence for families with known or suspected genetic disorders. A broad range of genetic testing is available. Genetic testing is ordered, evaluated and results are shared with the patient, his/her family and the primary care physician. Knowing when your child's medical problems are genetic can help your medical team create a more accurate diagnosis and determine the best course of treatment to allow your child to lead as happy and healthy a life as possible.
Metabolic genetics services
Our metabolic genetics services offer evaluation and treatment of inherited metabolic conditions to help families like yours better understand and cope with your child's diagnosis.
Inherited, or genetic, metabolic disorders affect metabolism. Metabolism is how the body converts the fuel from food into the energy needed to do everything from moving to thinking to growing. Inherited metabolic disorders are caused by a change in a person's genes. Genetic testing for metabolic disorders results in a more accurate diagnosis and appropriate treatment plan, and can help patients and families determine the best short- and long-term care.
Specialty programs and clinics
Connective Tissue Clinic
Connective tissue disorders are a vast, diverse group of conditions that are related to changes in genes that affect collagen. Connective tissue supports many different structures throughout the body, including the heart and aorta, as well as bones, muscles, eyes and lungs. To address the many disorders that can arise, our Connective Tissue Clinic provides a coordinated approach to your child's care. We bring together a team of geneticists and cardiovascular specialists to provide a thorough evaluation of your child using advanced diagnostics and deliver ongoing care with innovative treatments specific to your child's needs. We also offer genetic screening for your family if indicated.
Disorders of Sex Development
At Cook Children's, we understand how overwhelming it can be to learn that your newborn or young child has a disorder of sex development, or DSD. Many DSDs are genetically determined. Uncovering the genetic basis of a DSD can inform our understanding of the condition, determine inheritance patterns and recurrence risks to other family members and sometimes even guide clinical management.
Through our Disorders of Sex Development Clinic, our physician team works together to create the best plan of care for your child.
Down Syndrome Clinic
Our Down Syndrome Clinic offers periodic evaluation and screening of children diagnosed with Down syndrome. The number of visits and types of screening are based on your child's individual medical and developmental needs.
The Down syndrome evaluation and screening team is headed by pediatric geneticist Mary Kukolich, M.D., who completes a genetic physical examination and provides genetic counseling. The clinics are available every other month to help children and their caregivers understand and address unique needs and better manage this diagnosis.
Genetic Epilepsy Clinic
Our team will review your child's history, as well as existing testing. If necessary, they may recommend additional evaluation. Once a diagnosis is established, genetic counseling will be provided and a treatment plan specifically designed for your child will be created.
Genetic Oncology Clinic
The Genetic Oncology Clinic provides care and counseling to children and their families with a genetic predisposition to cancer. This program is one of only a few genetic oncology clinics in the U.S.
Our approach is a collaboration among pediatric oncologists, geneticists and genetic counselors providing education, guidance, therapy and routine cancer surveillance studies when indicated for children with a predisposition to cancer.
Cook Children's Genetics Center offers telemedicine consultations, which allows our team to care for as many patients as possible, near and far. Our doctors see patients in person or by telemedicine at our regional offices located in Abilene, Amarillo, Midland, San Angelo, Tyler and Waco.
22q11.2 deletion syndrome clinic
Children diagnosed with 22q11.2 deletion syndrome (also known as DiGeorge or velocardiofacial syndrome) often face a number of medical problems and need to see several specialists for care. Through our 22q11.2 deletion syndrome clinic, we offer our patient families a more convenient way to see these specialists in one day and in one location. Your child will have the opportunity to see providers from Cardiology, Genetics, Endocrinology and Infectious Diseases. The doctors collaborate to make sure that all the necessary referrals and labs are completed, so that your child receives the best care possible.
Having a baby or planning to?
Cook Children's Newborn Center has the information you need to know about family genetics.
We're here to help.
If your child has been diagnosed, you probably have lots of questions. We can help. If you would like to schedule an appointment, refer a patient or speak to our staff, please call our offices at 682-885-2170