Children with HADDTS are kind, loving, and full of joy. They truly are a blessing in our lives. A fun fact to start with: when they are young, some children may have a strong desire to hold onto things, often expressing this with a single word. For example, calling the single word "GARDER" (which means "to keep" in French). As parents, we've discovered that HADDTS children do this in different languages, even getting one child the nickname of "the Keeper”.

The children are affected differently. While hypotonia, ataxia, and developmental delay are present in allmost all of the children with HADDTS, the severity varies, and some children may not experience certain symptoms at all.

Hypotonia (Low Muscle Tone) causes reduced muscle tone, making the body feel floppy or weak. Babies may struggle to pull themselves up, sitting up, or reaching motor milestones.

Ataxia (Movement and Balance Difficulties) leads to difficulties with coordination and balance. Children may appear unsteady while walking or performing fine motor tasks like grasping objects. Most of the HADDTS children need a walker or a wheelchair.

Children with HADDTS often experience delays in reaching developmental milestones (Developmental Delay) that most children achieve at expected ages. The extent of these delays varies, with some children requiring more support than others.

• Delayed motor abilities: difficulties with crawling, walking, climbing stairs

• Speech problems: children experience problems with articulation. Some children speaks in full sentences while others may stick to single words, sounds, or use gestures, mimics or sign language.

• Cognitive and learning disabilities: there is a broad range in how each child is affected. Some children have only mild difficulties and are expected to graduate, but the majority require more extensive support and attend schools for children with special needs.
  An important point: children with severe disabilities report that they have a good or even excellent quality of life. This might seem surprising, but it's explained in an important paper called "The Disability Paradox."

• Some children with HADDTS have soft or discolored tooth enamel (Tooth Enamel Defect), making them more prone to cavities and sensitivity or malpositioned or widely spaced teeth.

Other symptoms are maybe not mentioned in the name of the deasease but could be real issues.

• Scoliosis: one of the major problem in HADDTS children is the development of advanced, rapid neuropathic scoliosis between the ages of 8 and 13, which is often associated with respiratory health issues.

• Inclination to respiratory diseases: children may be prone to conditions such as bronchitis and pneumonia.

• Digestive and feeding difficulties: most HADDTS children are bad eaters. Some parents introduced a feeding tube, either all the time, or only at night, to stop the never-ending feeding battle.

• Mitochondrial respiratory chain dysfunction: when this chain is impaired, cells, especially in energy demanding organs like the brain and muscles, struggle to function properly. This dysfunction may contribute to the children’s neurological symptoms.

• Sleep problems: some parents report children waking up a lot at night, gasping or crying.

• Brain changes seen on MRIs: cerebellar atrophy (vermis) is often observed. The cerebellum plays a crucial role in coordination, balance and speech articulation, so any changes in this area can significantly affect these functions.

• Anxiety: some children exhibit anxiety; they don’t like changes and prefer to stick to a strict routine.

• Growth problems: Some children experience growth delays and are smaller than their peers.

Once again, please remember that every child is unique and may or may not experience the issues listed above. This is intended as a helpful guide, a checklist to identify what might be worth monitoring.

A combination of regular exercise and a balanced diet is highly recommended to support your child's overall development and well-being.

Early intervention in physical, speech, and occupational therapy is important, as it can help your child reach their full potential. Physiotherapy in all its forms (pediatric, cardiopulmonary, hydro or horse therapy) can play a crucial role in improving muscle strength, balance, and mobility. Parents should explore different physiotherapy approaches to find the one that best suits their child's individual needs. Additionally, many parents have observed significant progress after intensive block therapy at rehabilitation centers specializing in neurological impairments.

It is also crucial to begin early scoliosis monitoring with an orthopedic doctor and to advocate for scoliosis surgery, as the condition often progresses very quickly. Many children with HADDTS also use Ankle-Foot Orthoses (AFOs) to support stability and mobility.

Follow-up with a pulmonologist is also recommended due to the predisposition to respiratory diseases. Many families use a cough assist device and/or a chest PT machine daily or when the children are sick to help loosen mucus in the lungs.

Consulting a nutritionist is important, as diet plays a key role in managing symptoms. A diet rich in slow-digesting carbohydrates, high in protein, healthy fats, and balanced nutrition is believed to support energy regulation and reduce metabolic stress on the mitochondria.

Researchers have hypothesized that a combination of antioxidants could be beneficial for children with HADDTS.

Parents of children who sleep poorly often seek consultation at sleep labs to conduct a sleep study and better understand their child's sleep quality. Some children require nighttime monitoring and use a BiPAP machine to support their breathing.

Children with short stature are referred to an endocrinologist to evaluate potential hormone-related disorders and metabolic issues.

A valuable piece of general advice from a mother with an older child is not to be afraid of equipment that can help you or your child, even if it may seem intimidating at first. “Change is difficult, but don’t be afraid of it—embrace it.” Take everything you think might help and fight for it through your doctors or health insurance companies.

The information provided is not intended to be a substitute for professional medical advice, diagnosis or treatment. Never disregard professional medical advice, or delay in seeking it, because of something you have read on this website.