concernedparent123

[concernedparent123]

Future Child Diagnosed with Huntington's Disease

Hi everyone, I am 4.5 months pregnant and just got a pre-natal genetic test done which revealed that the child I am carrying will be diagnosed with Huntington's disease. I don't completely understand everything just yet, so if anyone with similar experiences has any advice, I'd really appreciate it! Here is what my doctor said and what my own research has amounted to so far:

How my child inherited it unknowingly: Huntington’s disease is an autosomal dominant disorder, which means that a person only needs one copy of the gene to develop the disorder. It is caused by mutations in the HTT gene. The HTT gene provides the instructions for making a protein called huntingtin, too much of the protein is toxic to nerve cells. The HTT gene has a DNA segment known as the CAG trinucleotide repeat which is usually repeated 10 to 35 times. In people with Huntington’s disease, the segment repeats 36 to more than 120 times, however, those whose segment repeats 36 to 39 times may not develop symptoms. My husband has the gene and his CAG segment repeats 37 times, but he thankfully won’t develop symptoms as he’s already reached the general age of development, his 30s or 40s, however, he has passed down the gene to our future child.

Symptoms:

Causes the degeneration of nerve cells in the brain. 

Affects functional abilities and usually results in movement, cognitive, and psychiatric disorders.  

Movement disorders: chorea (involuntary jerking or writhing movements), dystonia (muscle problems such as rigidity or muscle contracture), slow or unusual eye movements, impaired walking, posture, and balance, and difficulty with speech or swallowing.  

Cognitive disorders: difficulty prioritizing or focusing on tasks, tendency to get stuck on a thought, behavior, or action, lack of impulse control, lack of self-awareness, slowness in processing, and learning difficulties. 

Psychiatric disorders: feelings of irritability, sadness, or apathy, social withdrawal, insomnia, fatigue, suicidal thoughts. OCD, mania, or bipolar disorder. 

Causes of death: pneumonia or other infections, injuries related to falls, complications related to the inability to swallow. 

Treatment: The disease is unfortunately not curable, but medications are available to help manage the symptoms. Medications include drugs for movement control such as tetrabenazine and deutetrabenazine, but they may cause drowsiness, restlessness, and the risk of worsening or causing depression or other psychiatric conditions. Antipsychotic drugs such as haloperidol and fluphenazine may be beneficial in treating chorea but may worsen dystonia, restlessness, and drowsiness. Quetiapine and olanzapine may help suppress violent outbursts and other mood disorders, however, may cause movement disorders themselves. Antidepressants such as citalopram, escitalopram, fluoxetine, and sertraline may also treat OCD, however, may cause nausea, diarrhea, drowsiness, and low blood pressure. There is also psychotherapy, speech therapy, and physical therapy.

There also seems to be some current research being done by scientists. They are trying to understand the toxicity of the mutant huntingtin protein and how to develop a potential drug to counteract it. Scientists are using cutting-edge methods (hope it works!!) such as optogenetics (neurons activated or silenced in animal brains using light beams) to study circuit defects in Huntington’s disease and are using stem cells to study disease mechanisms and to test potential therapeutic drugs. My child will have many years until the symptoms start so I hope that the research will become tangible enough to relieve them of their future symptoms.

This is all really just scientific research so if any other parents in the community have any advice, please post it!!

#science project