My name is Christopher, 2 years old happy baby. I keep smiling all day long cheering up everyone around me.

Those who know me, have you ever wondered why I am such a happy baby and you never see me crying? Or why am I so skinny however I eat a lot and to be honest I love eating yummy

The other day I was told I was 1 year old, thank you for the compliment for that lady but I’m not denying my age yet

Well, my Mum did wonder about me when I was 10 month old. I couldn’t sit, crawl. Literally I didn’t do anything but rolling over side to side.

I was told I was lazy, goodness me . There is no lazy baby, but you probably need to know my dearest Nurse.

My Mum took me to different doctors and she was told she was overreacting but she already suspected what we all know now.

It took months and months until she found someone who agreed with her so my long journey has started to find out what is going on with my condition.

You definitely know my Mum, sometimes she gets crazy and makes drama with Doctors but she does this to fight for me.

I have met so many doctors, nurses, specialists and consultants that nobody else in a lifetime in three different countries BUT none of them recognized my features that would be obvious for a professional.

To make a long story short I had several blood tests done within the last 10 months (I hate those pinches) to get my results.

Mum got exhausted, probably you see her on the phone all the time, or you haven’t seen her in a while.

The reason is that she was doing researches, contacting doctors, specialists, joined different rare disease groups, read overnights when everyone else was sleeping.

And she was RIGHT!

I have ANGELMAN SYNDROME a very rare (1:20000) genetic disorder that affects the nerve system and causes global developmental delays including physical and intellectual disability, lack of speech and sleep disturbance and happy demeanor.

The long arm of the chromosome 15 is missing. My parents do not carry this disorder. Unfortunately, I have received it by gene mutation. That’s gross

Please note this is a genetic disorder that is not curable but the conditions can be improved by physio, occupational, speech and language therapy.

However there are clinical trials in place for gene therapy by different pharmaceutical companies around the world so there is a hope for cure

Milestones I have reached by physio and swimming: I could crawl on my tummy at age 1. I stood up at age 16 month however I still was not able to sit. Sorry girls, I still have low abdomen and back muscle (working on it now ) but guess what? I’ve been ABLE to sit on my own unsupported in the last few weeks- that was the biggest milestone- Mum was crying she was so happy. Now I enjoy sitting and exploring the world around me. I already took few steps aided , I’m doing my best to learn walking.

I love my Mum she’s my superhero, protects me and always wants the best for me. She got many apologies and my consultant acknowledged her knowledge. There are still many healthcare professionals that never heard about AS, so it’s such a rare condition. Mum is an Angelman syndrome expert. Just check her browsing history on her phone. I’m not getting angry when she uses her phone but still next to me because I know that she’s still looking for answers and solutions.

I’m her little Warrior. She tells me every day how much she loves me, she also wrote a poem about me. I’m so proud of her and she’s so proud of me She says she will look after me since I’ll need care throughout my life but it makes me comfortable having my family around me.

I can get sick very easily, am capable for infections but I’m a strong little man However I need support when I feel sick

I love my Dad he works hard to make those expensive therapies and appointments available and while Mum is looking after me.

And finally I adore my Sister who is the best in the world and she promised me to take me to Disneyland so we’ll have fun together

I have flown near 30 times in my life but please don’t be jealous those were still medical appointments and therapies but let the real holiday 
begin soon. Aurevoir

Better Days Are Coming! Together we CAN cure Angelman syndrome. FAST researchers know exactly what causes Angelman syndrome (AS) and have already cured it in the laboratory. Much of this pioneering, critical research was funded by our FAST community. Today, this research has led to the announcement of several revolutionary clinical trials that hold the potential to treat, and ultimately cure this rare disorder. Please help me support this critical research that CAN make a significant difference in the life of my loved one living with AS by clicking the Give Now button and donating whatever you CAN. Every amount is appreciated and gets us closer to our goal! The more people that know about FAST, the greater the impact, so please spread the word by sharing this page. Your donation to my page will help fund critical research to accelerate the therapeutic pipeline that will benefit all individuals living with AS, regardless of age or genotype. Thank you in advance for your generosity!