Melanie, 32 years old: A life journey with the LMBRD2 mutation

1 day ago
5 min read

👶 The first signs

Born at term on June 20, 1992, Mélanie presented with severe neonatal jaundice from birth, requiring phototherapy (treatment with a UV lamp). Feeding difficulties quickly emerged: she struggled to take her bottles, leading her mother to switch to purees and soups very early on. These difficulties were explained a few years later by a problem related to her tongue.

🧩 Living with a severe intellectual disability

Now an adult, Mélanie functions cognitively like a 5- or 6-year-old child in an adult's body. She cannot read, write, or do arithmetic, and cannot manage administrative documents. Highly impressionable, she requires constant support to protect her.

⚠️ One particularity to watch out for: Mélanie has a very high pain tolerance – her insensitivity to pain means that serious problems can be missed. This characteristic requires constant vigilance.

Mélanie is the eldest of three children.

📚 A life path adapted to his needs

🎨 Early childhood (0-7 years)

Mélanie's journey began with a nanny, then at preschool in a small, multi-level class in her village, with twice-weekly speech therapy. On the advice of the school psychologist, she then joined a single-level class in another town.

At age 4, she was placed in a class with a teacher who was sensitive to disability and benefited from a teaching assistant. The first year went very well.

⚠️ A lasting trauma: In her second year, a change of teacher and several instances of professional negligence led to multiple head injuries requiring hospitalization. These events caused Mélanie to develop abandonment issues and a phobia of firefighters that persist to this day.

🏫 Schooling and youth (7-24 years old)

At age 7, following a move to be closer to her maternal family, Mélanie joined a CLIS (Class for School Inclusion) in another region. From age 8 to 24, she was accommodated in an IME (Medical-Educational Institute) with partial boarding, where she continued her development and independence.

🏠 Adult life (24 years old to present)

24-30 years old: Residential care home. This period is unfortunately marked by an attack by a man suffering from psychiatric disorders, which causes depression in Mélanie.

For 30 years: Day care at 80%, a solution that suits him well.

💔 The challenges of providing daily support

Caring for Mélanie represents a significant burden that falls on her mother. The challenges are all the greater as she is currently undergoing cancer treatment, an ordeal that adds to the daily management of her daughter's disability.

🏡 Respite solutions: Mélanie occasionally stays with a host family, allowing her mother to rest and take care of herself.

🎯 Its autonomy today

✅ The achievements

📖 Reading and identification:

Recognizes the letters of the alphabet
Knows his first and last name (without knowing how to write them)
Includes pictograms

🚶♀️ Travel and social life:

Moves around on her own in familiar places
Recognizes the people around him/her and their roles
Knows how to ask for help when needed

🍽️ Daily life:

Eats alone
Dresses with help depending on the clothes (doesn't know how to tie her shoelaces)

🛁 Hygiene:

Knows her body schema, but only the visible parts, which poses a problem for shampooing and styling (requires guidance)
Potty-trained during the day from 18 months (very precocious!), wore nighttime incontinence pads until age 14

💬 The evolution of his communication

From 0 to 7 years old: the beginnings

His primary mode of communication was cries and gestures. Gradually, words and sentences began to appear. His family uses the Makaton method (sign language using the Père Castor picture book), which helps him considerably.

In adolescence: progress

Mélanie is starting to make simple sentences and is enriching her vocabulary thanks to intensive speech therapy (2 sessions per week until she is 18).

Today: a language that endures

She expresses herself in simple sentences with an expanded vocabulary. Speech therapy remains essential. Frequency: 1 session per week

⚠️ Important: Breaks should not exceed 1 to 2 months, otherwise she will quickly lose her progress.

🧠 A new need: psychological support

For the past six months, Mélanie has been receiving monthly psychological support. She is finding it increasingly difficult to manage her feelings and frustration, which can lead to outbursts of anger.

🏃 Motor characteristics

👣 Walking on tiptoe

Mélanie walked at 10 months old, but on her tiptoes. She would fall to stop. Today, she runs a lot, but putting her heel down is still not easy for her.

Progress: As a hypermobile child, she now presents with leg stiffness requiring weekly physiotherapy.

⚠️ No awareness of the danger

It was during baby swimming sessions (around 6 months old) that her family discovered that Mélanie was unaware of the danger and risks she was taking. This characteristic requires constant supervision.

🚴♀️ Laborious learning

Learning to ride a bike was very laborious, with a tendency towards speed and haste, without any notion of caution.

✋ Fine motor skills

Lack of established lateralization
Fine motor skills problems
Activities she enjoys: puzzles and color-by-number books, excellent for developing concentration and dexterity.

🏅 Sport as therapy and as pride

Since the age of 7, Mélanie has practiced athletics, first in mainstream settings and then in adapted sports. Sport has become much more than an activity: it is a true therapeutic tool that helps her channel her hyperactivity and develop her concentration.

His disciplines:

🏃 Athletics: to manage hyperactivity and burn off energy

🎯 Pétanque: to work on concentration and patience

His sporting achievements:

Mélanie regularly participates in adapted sports running competitions, where she stands out for her determination and boundless energy. She has won several races and collected medals, each victory a source of immense pride for her and her mother. These sporting events are also precious opportunities for socialization and sharing with other athletes with disabilities.

📋 His current tracking

🗣️ Speech therapy : 1 session/week (essential for maintaining language)

🧠 Psychology : 1 session/month (emotional management)

💪 Physiotherapy : 1 session/week (flexibility and motor skills)

🏃 Adapted sport : regular practice (energy channeling)

🏠 Day care : 80% of the time (socialization and activities)

🏡 Host family : occasional stays (respite for the caregiver)

💙 A message from his mother

"Mélanie is a fighter. Despite all the obstacles, she moves forward with her smile. Her journey hasn't been easy, and neither has ours as a family. But every little progress is a victory. I'm the only one taking care of her. I hope her story can help other families feel less alone in the face of this rare change."

Mélanie's journey illustrates the importance of tailored and continuous multidisciplinary support. Despite daily challenges, she leads a life rich in activities and social relationships.

🤝 How to support our work

Every journey like Mélanie's requires tailored support and considerable resources. Our association needs your support to continue assisting families affected by this rare mutation, funding research, and creating information and support tools. Every donation, however small, makes a difference.

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