HADDTS can look different from child to child. How it affects your child depends on the specific change (mutation) in the CTBP1 gene. The most commun mutation is c.991C>T. So far, there haven't been any cases found where someone has this gene change but shows no symptoms at all. However, that doesn't mean it's impossible. Normally, only people who have symptoms of a disease get genetic testing. This means that if someone has mild or unnoticed symptoms, they might have a CTBP1 mutation without knowing it. It's important to know that even though our website talks about CTBP1 and its role in cancer research, no child with HADDTS has ever been diagnosed with cancer.

At the moment, HADDTS is considered a life-limiting condition. Based on the few known cases, it appears that individuals with HADDTS may have a reduced life expectancy and no known child has reached adulthood. It’s important to remember that this understanding is based on limited data, as it is an extremely rare disease, and our knowledge, along with advancements in medicine, may evolve over time. Many things we worry about may never happen. As Michel de Montaigne once said, "My life has been full of terrible misfortunes most of which never happened." So while this is how things are seen right now, it's not set in stone.

Many researchers are currently working to uncover the mysteries of HADDTS and the CTBP genes, and this is also driven by how fascinating these genes are, as they may hold the key to some of the greatest mysteries of human biology — including cancer, neurodegenerative diseases, and aging. Advances in research may change what we know and offer new hope for the future.

The worst thing would be to fall into despair only to discover years later that it just didn’t happen and everything played out differently.

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. Muscle weakness and fatigue can affect movement and coordination.

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: every children experiences problems with articulation. Some children speaks in full sentences while others may stick to single words, sounds, or use gestures, mimics or sign language. They often understand you much more than you might think. They have their unique ways of communicating and connecting with us. It's important to remember that communication isn't just about words, it's also about the feelings and bonds we share.

• 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." Their quality of life is depended on other factors, but mostly you.

• 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. One must create intricate stories with special effects to get them to eat one little bite. Some parents introduced a feeding tube, either all the time, or only at night, to stop the never-ending feeding battle and giving them an easy way to give their child medication.

• 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 physiotherapy, cardiopulmonary physiotherapy, manual therapy, hydrotherapy, 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 block therapy at rehabilitation centers. Some of these centers specialize in treating patients with neurological impairments and offer intensive, multidisciplinary therapy programs lasting two to three weeks.

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, even for children not using a G-tube, 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 (e.g., walker, standing chair, wheelchair, therapy chair, AFO’s, pulmonary devices, G-tube, medical bed and so on).

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.