Thaïs is an adorable 17 year old teenager – sweet, kind, courageous. She loves to walk, feel the wind on her face, and swim. She has hearing aids and prefers to use her peripheral vision to see. She cannot sit upright, does not walk, and has difficulty holding objects in her hands. While Thaïs does not speak and it is difficult to communicate with her, she has a lot in common with the other TFE3 children. She is developing at her own pace and has made a lot of progress since her birth. 

We are Eric, Laurence, Thaïs and Chloé and we live in France, in Brittany, in Morbihan. Thaïs, our second daughter, is 17 years old. She is severely disabled, intellectually deficient, hard of hearing and visually impaired. After 10 years of research, at 14 years old, Thaïs was diagnosed in September 2017. She is the 5th patient carrying the TFE3 mutation.

When she was born, we didn’t notice anything. She cried all the time, had her eyes fixed on the light and was always congested. She also slept very badly at night, but things have been better since she was about 3 years old. At 6 months, she lost consciousness during a respiratory physiotherapy session. We went to the emergency room where a geneticist was on call – that’s where the genetic research began.

At 9 months, we learned that she was hard of hearing. She was fitted with hearing aids on her 1st birthday. She didn’t keep her hearing aids on and we had to fight with her about it. Thaïs started to be followed in a center specializing in deaf children. She cried all the time and she also started sessions with a psychomotor therapist.

At the same time, Thaïs had to wear glasses. She couldn’t stand them, and we would have to take a break for several months and then put them back on. She finally accepted them.

She started working with an orthoptist. The sessions were catastrophic. She cried constantly and didn’t look at anything. We learned a few years later that Thaïs is visually impaired. However, the progress is visible, the low vision specialist told us that Thaïs could gain vision as long as her brain is not mature, until the age of about 12. Thaïs no longer cried during the sessions and began to follow the objects that were presented to her; objects with high visual contrast, spirals and bright colors. On the other hand, we had to take the time to catch her gaze and present them to her gently.

Thaïs was very fragile in terms of breathing. She did not know how to blow her nose and all the secretions stagnated in the back of her throat. She regularly had respiratory physiotherapy sessions with the physiotherapist to help her clear it because she did not have a cough reflex; and did Budesonide aerosols and sometimes Ventolin every day. She had no control over her swallowing and choked on saliva or liquids. We had to thicken all liquids with a thickening powder. Now every 6 months or so, she has botulinum toxin injections in the salivary glands to limit drooling. This is done under general anesthesia. We tested the Scopoderm patches but Thaïs had too many side effects, aggressiveness and urinary retention.

In terms of epilepsy, the first convulsive seizure appeared in 2014 when Thaïs was 7 years old. Before that, we had already noticed absences and tremors of the limbs linked to epilepsy. Thaïs has a daily treatment of 3 associated medications, Keppra, Urbanyl and Ospolot. We find that as she grows up, she is more and more tired with all the medications but it is also perhaps pre-adolescence. The epilepsy has been stabilized for almost 4 years now. In the event of a seizure, we have to give her Buccolam.

Thaïs underwent surgery in 2019 on her pelvis and hips (because she had a dislocation of the hips), her knees for genu valgum, and her right foot. Since then, she has been sleeping on a support mattress with her legs apart, she also wears a night corset and a day corset because of scoliosis.

Thaïs always has cold and frozen feet in winter from the shins down. They turn purple. We put gaiters on her, and massage her to try to warm her feet.

Since May 2021, Thaïs has been on a new Cabergoline treatment to reduce a pituitary adenoma, or a benign tumor, detected by chance during a blood test for growth hormones and confirmed by a brain MRI. Since then, she has an MRI every 6 months. The adenoma is decreasing. It was crushing the optic nerve and we have the impression that Thaïs has better visual mobility since then. The treatment will probably be for life.

Thaïs has also benefited from laser hair removal for her hyperpilosity above her lips for about 2 years. She has a session about every 4 to 6 months because the hair is still growing back. We put an anesthetic cream on her lip 1 hour before so that it is not painful.

Thaïs has never been able to speak or point things out, she is totally dependent on us but has made a lot of progress. When she was little, she had no muscle tone and couldn’t hold her head up. Today, her posture is much better, she expresses herself with vocalizations and we really have the impression that she understands us when we speak to her because she looks at us intensely.

When she was little, she bit her wrists a lot to show her discomfort or pain. This calmed down over time and she only does it if she is in great pain. If she is happy, she can bite our shoulder when we have her against us, but the big progress is that she can now give us a kiss when we ask her (and when she wants to) by putting her tongue on our cheek.

Thaïs is also followed by a speech therapist to learn to swallow and learn to chew. She cannot eat solids and all her meals are ground. Her teeth are very small and a little damaged because she has periods when she grinds her teeth. She often needs to chew on her bibs, perhaps because of tension in her mouth?

She has recently had unexplained moments where she refuses to eat or sometimes meals can be very long and difficult even though she loves to eat….
Thaïs had a gastrostomy fitted in June 2023 following numerous food refusals and hospitalizations with penumopathy and respiratory congestion. We subsequently realized that the food refusal was generally linked to medications with a strong taste that we mixed into her food which disgusted her. We have since put all treatments through the gastrostomy and Thaïs eats normally by mouth. It is rare when we give her boluses. Since her gastrostomy, Thaïs is less sick because she has gained weight.

We put her on the toilet at several times during the day, often after meals. This has been the case for about 9 years. Often she urinates or stools. We never thought she could do her business on the toilet and she still wears diapers because she is not able to hold it if necessary. 

Even though Thaïs is hard of hearing and wears hearing aids, we speak to her normally. She is not able to sign with her hands because she has difficulty holding things in her hands. We tried some black and white pictograms for meals, bedtime, toilets, brushing her teeth but in fact, Thaïs understands us when we tell her that she is going to eat, go to bed, etc.

She has been staying at an IME, a specialized medication educational establishment, since 2012. In November 2022, she started spending 2 nights a week and now she sleeps there 4 nights. She leaves on Monday morning and returns on Friday afternoon. This decision was not easy to make. There is always a feeling of guilt and sadness but Thaïs is growing up and if we had not accepted the placement now, it’s possible we would not have had a new offer for many years, as places in these establishments are very difficult to obtain. Thaïs shows us her joy at seeing us again on Friday and the week is going very well with her friends.
Before the IME Thaïs went to class 3 times a week with a specialist teacher where she learned to paint with guidance and help from an adult but, unfortunately, school stopped after she was 16.

Like all children carrying the TFE3 gene mutation, Thaïs is very kind, gentle, endearing. She loves music, walking, swimming and riding with us on a balance bike.
She continues to face many challenges but rises to the occasions with strength and courage. 

In 2021 we learned that there was another family in France, one in Spain, another in Israel and more in the United States that had Thaïs‘s same condition. From then on we have been able to share stories, information, successes, and challenges with others. We also look forward to getting to know your children, so please share your stories and especially don’t hesitate if you have any questions. Our friendship to all.