Full time mom
Age of parents:
Age: 5 years old
Is this your only child? Andreas is our first child.
Diagnosis of child:
Our son is affected by an ultra rares syndrome called MCT8 Deficiency also known as Allan-Herndon-Dudley syndrome. According to Orpha.net there are 320 cases all over the world. However MCT8 it’s a very under diagnosed disease. Here is a video explaining what is happening in this syndrome. https://www.youtube.com/watch?v=0fN0Cix2GZo
What are the biggest challenges facing your child on a daily basis?
His care is constant and complex. His symptoms influence us in a very direct way. Among the visible symptoms that affect our daily life are: central hypotonia (the first symptom that may be a clue regarding the identification of this syndrome is lack of head control and “floppy” body) combined with peripheral hypertonia, delayed cognitive development, motor delay, problems swallowing and dystonia. To translate: he cannot sit or walk, he cannot hold or use a teaspoon or a glass, he cannot speak or communicate in an intelligible manner which makes care a bit difficult.
He also has invisible symptoms which create serious issues, these are increased blood toxicity, low bone density, increased heart rate, low immune system, acid reflux and sleep apnea.
What are the happiest moments you have with your child on a daily basis?
Before we start the day, we always just lie in bed together and play, giggle and laugh a lot. I think that is the highlight of my day.
He also loves having children around to play so whenever we get the chance we go to a particular playground where they accept him as he is. There aren’t many places like that unfortunately. For now, acceptance and integration are just some nice words written on paper. This is the reason for which we’ve initiated “Movies for Superheroes” project. They are inclusive sensory adapted cinema screenings for children with disability. It’s an event where everyone can be themselves without the fear of being judged or looked down upon. Where children can socialize and interact beyond disability.
Are you a single parent or married? Married.
Has your special needs child had an effect on your marriage?
After the first shock of the diagnosis when we fell apart, not only as a relationship but as people as well. It took us a lot of time to gather the pieces and put ourselves together again. Our son was the glue that made that possible. He became our teacher and our guide in this new life we started togther, all three of us. So yes, having our son did have a big impact on our relationship. It literally rebuilt us. I wrote a little story about our journey. You can find it here: Little Sundrop and the Unnamable Terrible Evil
What has your child taught you about yourself, both positively and negatively?
Every day he gives me the chance to learn something new, something I didn’t know I could do or withstand but I guess the biggest lesson he taught me was that his story is not yet written and I shouldn’t see it as such. His syndrome is so rare and so unknown that there are no guidelines, there are no expectations (good or bad). For a parent who just got the diagnosis and wants to know how high she should set her hopes and expectations, the prospects aren’t great. But for the parent who chooses to believe that because there is no predefined level of expectations, the sky is the limit, it’s a blessing.
Are your family and friends supportive?
Most people didn’t know how to react so they just took a step backwards and give us space. Their reaction is understandable, however after the diagnosis we found ourselves very alone. Things have changed a bit since then. Some friends and family built up the courage to step back into our space, some new friends decided to boldly step in so we are not as alone as we used to be.
Do you take time out, if so what do you do to relax?
Well, not much... My relaxing time involves reading medical research, getting involved with the new foundation we created for children affected by this syndrome, the MCT8-AHDS Foundation and searching for potentially helpful therapies.
What has made the biggest difference to your child’s quality of life?
I guess the biggest step forward and the thing that helped increase his quality of life the most, is the fact that he started rolling unassisted. This way he has gained the independence to explore the house on his own which in turn gave him confidence in himself to try other things.
What is your dream for your child?
I realize that complete independence is an incredibly far off vision for us but that doesn’t stop me from trying to get him there. I also dream of an inclusive society where he will be accepted and where he would be able to reach his full potential.