- STXBP1
- Interviews
Patricia's interview
How did all start?
In April we were told that Thomas has an error on this STXBP1 gene. For a long time, I had the suspicion that Thomas's development did not go as it should. The development until its first year ran according to schedule, although just at the last minute, but just within the limits. From being 1.5 years old (2013) I say it's not going well. He currently had 6mnd long non stop ear infections antibiotics and final tubes. We were getting to specialists but turned away, because a little boy is slower than a girl, and he was much been sick so it came all yet though. He spoke at that time 5 words, could pile up cubes and punting a ball ... So there was nothing to worry about. I ended up a reference to a pediatrician demanded and who wanted to have investigated autism. We are with the specialists, and who saw no autism. They saw, however, that there was "something", but what they could not tell me.
We have been at Kentalis for a development research, Thomas's IQ was low at that moment. This lady also saw that Thomas was different .... But what it was, she did not know either. Back to the pediatrician who forwarded us to the outpatient clinic Special Children in the Juliana Children Hospital. Here he was seen by the clinical geneticist, neurologist, pediatrician, rehabilitation physician. They wanted a MRI scan of his brain where nothing was special to see. The rehabilitation physician noted that he was light hypermobile, which had also been observed by the occupational therapist. The clinical geneticist wanted to investigate our blood for DNA research. First of all, Thomas and I both have an little piece too much of chromosome No. 6. Conclusion; Mom is healthy with this piece too much so this can not be the cause of problems for Thomas. They went further searching. Now we were told in April 2017 that Thomas has a mistake on the STXBP1. This mistake has really occurred to him, my husband and I do not have this both.
In July 2017 Thomas have gotten a epilepsy research, thank god this research was good. No epilepsy activties in his brains.
Thomas is not yet intelligent, has a speech-language developmental disorder (luckily he speaks reasonably well thanks to the speech therapy), he is has a tremor in his fine motorism, at a socially emotional level, he is in a child of 2/3 years. Its IQ is dysharmonic 58/85. His behavior is very difficult, he does not realize that he can not pinch our bird and can not hang on the curtains. Don't see any danger, kidding and fluttering with his arms. He likes screaming and does not like the rough structure in his food and has hardly eaten enough. Thanks to the ergotherapy he wants to lie now, he did not want when he was a little boy. Furthermore, he is happy and still very sweet.
I have translated this text with Google. I'll hope these are the right words, and you will understand it
Do you already have a diagnosis? How long did it take you to get it?
Looking for answers since 2013
April, 2017 >> STXBP1 found through exome sequencin
Autism >> diagnosed September 2017
What has been the most useful thing for you so far?
Speech therapy
What have been your biggest difficulties?
No one understand and beleived us when i've said there is something wrong whith our son.
How has your social and family environment reacted? Have your social or family relationships changed?
My Family understand it.
Famili in law doesn't understand
What things have you stopped doing?
Go to kindergarten. Go to places where are lots of persons.
What do you think about the future?
I am scared of the future. Don't know what to expect. Is my son able to function alone in our society?
So far, which years have been the best years in your life? What have you done during them?
Thomas first year. Everything seemed normal then.
What would you like to do if you didn’t have your condition?
Function like a "normal" Family
If you had to describe your life in a sentence, what would it be?
Hard
Finally, what advice would you give to a person in a similar situation?
As a mom, you know your child is different. If no one believe you, keep on fighting for answers. Mom is always right!!
