Help our daughter fight rare genetic mutation and severe autism
Irene is our first child. We were very happy when this charming little one was born. Neither professionals nor we noticed something was not right. It took weeks to realize our daughter is not a healthy baby.
First, we found her difficulties in simple activities such as feeding or sleeping. We also found her physical development very delayed. We shared our concerns with different pediatricians, but they all said that each child developed at their own pace, and we did not have to worry.
Few weeks after Irene was born, the professionals have found abnormally diminished muscle tone (hypotonia). We started the physiotherapy immediately, however, Irene still had many significant motor development delays.
When she was around three months old neurologists referred us to the brain ultrasonography which displayed some alarming symptoms: Irene had abnormal enlargement of a ventricle of the brain.
When Irene was older the magnetic resonance imaging (MRI) revealed congenital brain defects in several areas of her brain which might be a symptom of various kinds of diseases. Irene's brain malformations include underdevelopment of the corpus callosum, that join and carry messages between cerebral hemispheres. Irene also has significant underdevelopment of other areas of the brain: abnormally shaped basal ganglia and thalamus, enlargement of the frontal horn of the left lateral ventricle, hypoplasia of the brainstem. These areas are responsible for many valid functions and reflexes.
We were devastated - the pregnancy period went very well and the prenatal testings hadn't shown any anomalies. Therefore we were sure that Irene was born a typical baby.
In addition to her brain malformations, when Irene she was 9 months, the neurologist noticed that her head stopped to grow and suggested microcephaly.
We were also referred to the metabolic screening, but the examination hasn’t shown any significant abnormalities.
Meanwhile, geneticists began to search for an actual disease, but they didn't have a clue. Irene was suspected to have inter alia an Angelman Syndrome.
When Irene was nearly a year of age, we began to worry even more.
Despite the physiotherapy, Irene still did not sit or tried to stand on her own. Diagnosis: impaired motor abilities.
She also didn't wave goodbye or learned to say any word.
Later on, Irene started to display lots of compulsive and stereotyped behaviors: repetitive movements, such as body rocking, and self-injury behaviors such as head-banging. These behaviors occurred hundreds of times a day.
Finally, Irene was diagnosed with severe autism and lots of social deficits. Her difficulties with feeding almost made her use a gastrostomy tube. In addition, Irene’s physical development was still very delayed. Due to the long-term rehabilitation, she started to walk at the age of 2.
Unfortunately, as the almost six-year-old child now, she still does not say even one word and it is difficult for her to communicate alternatively.
After years of searching the causes of Irene's congenital disorders and autistic features, we've received the final genetic diagnoses: a very rare de novo mutation in the TUBA1A gene. Although the particular form of Irene's mutation has not been described in the literature yet, in general, mutations in the TUBA1A gene manifest clinically as Type 3 Lissencephaly or a Pachygyria which is a set of severe brain disorders. Affected children display congenital brain defects, significant neurological problems, seizures, psychomotor retardation, overall developmental delays or even failure to thrive.
The impairment of the brain development leads to intellectual disability.
The only way to help Irene is to stimulate her brain development properly. Our daughter struggles with many problems. She suffers from panic attacks because she often doesn't understand what is going on around her and is not able to communicate.
Irene displays many forms of repetitive behavior which make her everyday activities very hard. The repetitive activities such as body rocking or had banging accrue also at night. Irene's lack of a good night sleep affects whole our family.
It's very hard for Irene to reach certain development milestones. Learning the simplest skill is a challenge for her. She must take thousands of repetitions to acquire any social skill.
The treatment includes coordinated efforts of a team of specialists. Irene requires intensive rehabilitation, psychological, social and communication therapies.
It is the only way to make her life easier but the treatment is very expensive.
Thanks to the intensive rehabilitation, Irene was able to make a huge progress which is generally not common to the disease she has.
With your donation, we can afford the therapy which Irene needs every day.
Please help us fight for our child.