Understanding Your Child's Fucosidosis And What You Can Do
When you have a child who is diagnosed with the rare genetic and neurological condition of fucosidosis, you may wonder if there is anything that you can do to care for and protect your child given their surprising diagnosis. Because fucosidosis is so rare in humans, you and your child's doctors may feel lost and confused. However, there may be some neurological services and treatment options that can help you to manage their fucosidosis. Get to know more about these options so that you can better provide your child with the support that they need.
Understanding What Fucosidosis Entails
Fucosidosis is an inherited disorder that is extremely rare because it is recessive and therefore requires both parents to be carriers. The precise gene that this condition affects is responsible for helping to break down sugars, proteins, and fats in the body. When the gene is mutated as it is in fucosidosis, these substances do not get fully broken down and processed in the body which causes severe problems throughout the body and in the brain especially.
Fucosidosis is a disorder without a cure and which is progressive. It is important to understand that any treatments or options that you seek out will be in the name of managing your child's disorder rather than curing it. However, this does not mean that you should give up hope for a cure in the future.
How Fucosidosis Will Affect Your Child
Because fucosidosis is a condition that primarily affects the brain, it can have serious neurological consequences. Children with fucosidosis can have delays in the development of motor skills like crawling and walking. They also have intellectual disabilities that vary from moderate to severe depending on the extent of the mutation to the gene.
Physical symptoms of fucosidosis include bone development problems, muscle stiffness, seizures, tremors, and chronic respiratory infections. The intellectual issues will be progressive with age, meaning that your child may experience early-onset dementia and associated symptoms.
Treatments Currently Available For Fucosidosis
The treatments for fucosidosis are largely based on the symptoms that your child experiences at any given time. If they are having difficulty with motor functions and walking, physical and occupational therapy are possible treatment options to help them to develop the motor skills they need to function and enjoy their life.
Antibiotic therapies can be used to try to manage and treat chronic respiratory infections and prevent them from getting out of control. Dehydration is a common issue that children with fucosidosis may experience as well, so fluid replacement therapy can also help.
Neurological services and treatment can also help to assess and treat intellectual disabilities and development issues as well as dementia when your child is older. A neurologist can track symptoms and recommend medications, therapies, and management techniques to help your child throughout their life.
Now that you better understand your child's fucosidosis and what you can expect, you can better provide them with the care and support that they need going forward. Talk to someone like Mohsen M. Hamza, M.D. for more information about what you can do to treat the neurological symptoms of fucosidosis in your child.
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