22q13 Phelan McDermid France

TESTIMONIALS FROM THE FOUNDER

OF "TEHANI ET LES ENFANTS PHELAN-MCDERMID"

Tehani's mom

Testimony from January 25, 2014

“I am Tehani's mother, and I would like to present my daughter's handicap to you. She has a rare disease called the Phelan-McDermid Syndrome or PMS.
In order to raise more awareness about this disease, we decided to create a French association that will raise funds to set up aid for our daughter and children with PMS but also to support research on PMS.

Our daughter Téhani was born on September 1, 2011. She was diagnosed in June 2013 with the 22q13.3 deletion syndrome, also called Phelan-McDermid syndrome.

During the first months of her life, I could tell that Tehani was not developing like other children. Manuari, her 16 months older brother, had no problem with his motor development so I could tell something was off with Tehani. At the age of 6 months Manuari could hold his head well, sit up and even start standing up on his legs. But, Tehani at 6 months still did not hold her head very well, and her sitting position was not happening and she had jerky hand gestures when she seemed happy. But, the doctors told us not to compare her with her older brother, so we stopped worrying for a while. But, when Tehani turned 10 month old, we decided to consult another paediatrician as we knew something was wrong. That's when the paediatrician told us that Tehani was hypotonic. That word - hypotonic - didn't mean anything to me. I had to be told the difference between muscle and tone and that is when I realized all the consequences this disease will have on her life and our life.
Then, medical examinations began, MRI, EEG and genetic tests... and my daughter began physiotherapy sessions. Today, these sessions are showing results. Although she still cannot sit alone, she progresses slowly by lifting her bum a little bit so she can put herself in a 4-legged position. She is slowly opening up to the outside world too.

 

Since December 2012, Tehani has been hospitalized four times urgently due to dehydration, with 3 to 4 days on continuous intravenous infusion. Téhani has weekly follow-ups, and receives both private follow-ups and follow-ups at an Early Medico-Social Action Center (CAMSP) in France.
She has two to three physiotherapy sessions per week and one speech therapy session.
At CAMSP, she receives a psychomotricity session, a balneotherapy game session with a psychologist and an awakening workshop (with three other children).


Tehani's genetic results came in June 2013 - we, my husband and I, were summoned by the geneticist. The geneticist explained to us that they had found what was wrong with our daughter; that she had a rare disease, and that for other children known to have this rare disease, they do manage to walk but with some difficulty. On the other hand, there was no hope for verbal communication or language and that she will have a mental delay ... After hearing this, it seemed to me that the whole world had collapsed in front of me because I had prepared myself for a diagnosis solely on motor delay, not on mental delays, even thought I already had observed that Tehani seemed in her own world and that she wasn't always very "present" with us.

After hearing this news, I broke down, I thought about the future that our daughter could have had and will have to face in a world that is so harsh with people that are different, and in a world where societies still chose to hide and isolate special people today. Above all what hurts the most is to see that some people react to our daughter's disability as if it is something that can contaminate them. 

In an ideal world everyone would be accepted and have a welcoming place to live in, but there is still a lot of progress to be done in this area.

My relationship with my husband is strong and we are holding on. We reacted differently to the announcement of Tehani's genetic results. I projected myself very far into the future, telling myself that I must put aside the exchanges that I had dreamed off with my daughter, concerning her sentimental and professional future ... My husband prefers to take it day by day. He is right, and that mental state helped me bring me back to the present moment and focus on the development of Tehani.

Research is also evolving rapidly and gives us a glimpse of hope for the future. We want to support the Phelan-Mcdermid research so that it can focus a little more on the discovery of the function of each gene responsible for Phelan-McDermid Syndrome.

 

It took me more than a month to realize what had happened to us ... In my deepest thoughts, I thought that all living species have evolved with many small chromosome changes, and that we are little grains of sand in relation to the creation of our Earth. Many humans believe to be above many, but our Tehani is part of this small change and the evolution of life constantly seeking to best adapt to the life on Earth.


Today Tehani has a smile, loves songs, laughs out loud when she sees her brother or other children running, it brings us a lot of joy and wisdom in our life. "

Nadège on January 25, 2014.

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TÉMOIGNAGE 2017

Maman de Téhani

Témoignage de janvier 2017

Since this testimony, we have already come a long way, met a lot of wonderful people, and volunteers who help us during the events.
We are fortunate to have been able to attend the international conference of the American foundation of the Phelan-McDermid syndrome this summer, in 2016, this conference takes place every two years. We met Dr. Katy Phelan and Foundation President Sue Lomas, as well as many parents from all over the world. We were able to observe how the care of children is different in the United States, and the indisputable advance in the field of disability of our neighbors across the Atlantic. As soon as we returned to France, we decided to acquire digital tablets for PMS families and finally to install the Proloquo2go communication software, which is very successfully used by American families.
Things are moving and one of the goals of the association "Téhani et les enfants Phelan-McDermid" is to change mentalities around disability.
In the United States, when you go for a walk, the people you meet immediately see that Tehani is different but instead of staring at us, they understand and some talk to us, a simple hello and a look with a smile for our daughter, they no longer see our difference.


Tehani has made a lot of progress on the motor level, but also on her discovery of others. She is starting to take her first steps (now 5 years old), but remains completely dependent on adults for all the rest of her daily life as an 8/10 month old baby. Since October 2015 she has been in a day care center, an IEM, she has multidisciplinary care (speech therapy, occupational therapy, psychomotor skills, physiotherapy), she is surrounded by boyfriends and girlfriends of her age. Speech therapy support is very low only 30 minutes per week, because the speech therapist is divided among many children.
The care for Phelan-McDermid children is quite heterogeneous and the decisions that AMDPH, school, and doctors take are not always fair, not to mention the lack of places in institutes. Of course, everything depends on the developmental stage of the PMS childen; with each child being so different it can be hard to take the best decision for me.
The future is scary when one hears the testimonies of parents of PMS children now adults who experience behavioural regressions. This encourages us to donate a large part of our funds to researchers so that in the near future they can find a remedy that will be able to alleviate mental delays, but also discover what occurs in the brain when the PMS patients become adults.
The oldest known Phelan-McDermid person in the United States is 54 years old, but the Foundation's registry does not yet register enough adults to be able to study this, and it is still necessary to inform families all around the world about undiagnosed adults. People with autism can now claim a new fine-grained genetic analysis to find out if they might  also have the Phelan-McDermid syndrome.