Having a child with a genetic disorder is disheartening for any parent, but when that disorder is rare, getting a diagnosis and finding treatment is challenging. Parents of children with rare genetic disorders must serve as their advocates, pushing for a diagnosis and securing treatment for their children. This starts with the right information.
Fragile X Syndrome occurs when a child has an X chromosome that is weak or broken. The broken gene does not create the protein it is supposed to make, and this causes the characteristics of the condition, including mental delay or retardation, anxiety and mood disorders, autistic behaviors, and unusual speech patterns. Children with Fragile X Syndrome also have physical symptoms, including flat feet, hyper-extendable joints, a high palate, and a long, narrow face. Treatment includes early intervention to help these children learn to talk and gain other developmental milestones. The National Fragile X Foundation has more information about this condition, treatment options, and diagnostic techniques. The FRAXA Research Foundation offers information about research into this condition.
Laurence-Moon-Bardet-Biedl Syndrome, or LMBBS, causes retinal degeneration, extra toes or fingers, obesity, and intellectual delays. Speech delays, behavioral problems, and muscular dystrophy are also common symptoms. Children with LMBBS are often short in stature. Treatment focuses on helping the child with the outward manifestations of the condition, such as vision impairment and speech disorders. Having a child with this condition can be isolating because it is so rare. The Laurence-Moon-Bardet-Biedl Society is an excellent resource for parents, as is the LMBBS Association.
Cri Du Chat, or CDC, occurs when there is a missing piece of chromosome 5. It is most commonly identified by the newborn's cry, which is high-pitched and cat-like. Babies with this condition often have low birth weights, may have small heads with wide spaced eyes and a round face. Poor muscle tone is common, so these children often require physical therapy to learn to walk and sit up. Hyperactivity and mental delays are also possible, but many CDC children can function within a normal classroom setting with a little special education support. Organ defects are the most common complication of CDC, and many babies with the condition must undergo surgery to fix heart or kidney disorders. The Genetics Home Reference has more detailed information about this condition, and parents of CDC children will find support at the Five P Minus Society.
Trisonomy 18 occurs when a baby has a third number 18 chromosome. Most children born with this condition do not live past a year, but some do. These babies are typically low birth weight babies who have a difficult time breathing and swallowing. Babies who can learn to suck and are strong enough to survive cannot be cured, but treatment focuses on helping them gain as many motor skills as possible. Nutritionists often work with Trisonomy 18 children to help them gain weight. Parents of Trisonomy 18 children can find support at SOFT, a Trisonomy 18 support group. More information about this condition is available from the Trisonomy 18 Foundation.
Tuberous Sclerosis, or TSC, causes benign tumors to grow on the vital organs, including the eyes and brain. Even though the tumors are benign, they cause problems, such as seizures, developmental delays, and behavioral problems, especially when they grow in the brain. Treatment focuses on removing tumors that affect day-to-day life in the least invasive manner. Some children must be placed on seizure medication. Severe TSC can cause mental impairment, but children with mild conditions can live fairly normal lives. Support for families dealing with TSC can be found at the National Tuberous Sclerosis Alliance.
These are just five of the many rare genetic disorders that can affect children. For more information and support, consider these resources: