We understand how long, confusing, costly, and frightening the journey to find a diagnosis can be.
Our advice to you at this moment is: seek professional help capable of guiding you on which genetic tests are advisable for your child's specific case, such as a geneticist or neuropediatrician experienced in rare diseases.
While you are seeking a definitive diagnosis for your child, it is essential that the child has access to early stimulation. Discuss with your pediatrician a referral for necessary therapies specific to your child's case, such as physical therapy, occupational therapy, hippotherapy, speech therapy, among others.
Optimizing the neuroplasticity window in early childhood, the first years of life, is fundamental in this regard. The therapies help to maximize functional abilities and quality of life, promoting a more comprehensive and adaptive development for the child.
We wish you good luck and God bless you!
Warm regards,
Fernanda and Daniel