The Rambuts’ Journey with KMT2C

The responses below were originally written in French and translated using a third party service.

What is your family like?

We are a family of 4, Antoine (the dad), Aurélie (the mom), Emy and Eden.

Nous sommes une famille de 4, Antoine (le papa), Aurélie (la maman), Emy et Eden.

What do you do for fun?

We really like walking along the seaside and going to see Dad play football.

Nous aimons beaucoup nous promener au bord de mer, aller voir papa jouer au foot.

Tell us about the biggest hardship you face.

Our son began to have breathing pauses of one minute and thirty seconds on average with cyanosis and hypotonia. He was taking in air while being painful. He could have up to 7 fainting spells during the day and then several days/weeks without anything. Since April 29, 2023, we have been living with the stress of losing our child. All the tests and assessments have shown nothing abnormal. He is in perfect health except for this KMT2C gene.

Notre fils a commencé à faire des pauses respiratoires d’une minute trente secondes en moyenne avec cyanose et hypotonie. Il reprenait de l’air en étant douloureux. Il pouvait faire jusqu’à 7 malaises dans la journée puis plusieurs jours / semaines sans rien. Depuis le 29 avril 2023 nous vivons dans le stress de perdre notre enfant. Toutes les analyses et bilan n’ont rien montré d’anormal. Il est en parfaite santé si ce n’est ce gène KMT2C.

What motivates you to participate in research? How has participating in research been helpful for you?

I’m available for research if you have any questions. It turns out I’m also a carrier of the KMT2C gene. I don’t have any particular problems.

Je suis disponible pour la recherche si vous avez des questions. Il s’avère que je suis également porteuse du gène KMT2C. Je n’ai pas de problème particulier.

How do you feel you are helping Simons Searchlight learn more about rare genetic changes?

The more cases are recorded, the more we will understand this gene and perhaps one day have answers.

Plus il y aura de cas répertorié et plus nous comprendrons ce gène et peut être un jour avoir des réponses.

What is one question you wish researchers could answer about this genetic change?

I would like to know if any other patient has had respiratory arrests as described by our son.

J’aimerai savoir si un autre patient à faire des arrêts respiratoires comme décrit par notre fils.

What have you learned about your or your child’s genetic condition from other families?

There are several very different cases. Many have gastric problems. I have always been very constipated and my son too.

Il y a plusieurs cas très différents. Beaucoup ont des problèmes gastriques. J’ai toujours été très constipée et mon fils aussi.

If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?

Be positive because there are really very different cases. Personally, I have nothing to declare; I am in perfect health.

De positivier car il y a vraiment des cas très différents. personnellement je n’ai rien à déclarer je suis en parfaite santé.