1 in 7.4 Billion

By Zayden, Undiagnosed, China, February 19, 2018

Zayden

At three weeks old I knew something was wrong. I told doctors (many) and nobody listened to the sleep deprived and perhaps paranoid mother. 

At two months old we wrote a list of the things that “weren’t right” and took it to a doctor who listened, listened carefully, examined and saw what we saw.  He saw that Zayden wasn’t reaching any milestones, he saw that no matter how much love Zayden was given he wasn’t giving any back, he saw that Zayden was tiny and he saw parents trying everything to feed him. And he saw the eyes that flickered, just a tiny flicker but an important flicker. 

He immediately wrote referrals and started us off on the journey into a new world. 

A world where we thought doctors had all the answers and followed by answers came cures. 

We did all the first set of tests and went back to our lives to wait for the results. Six weeks later the results came back... inconclusive... 

Zayden still hadn’t grown, he was tiny and hated nothing more than eating. We took him back to the doctors, he was admitted immediately, given a feeding tube and spent the next 44 days getting poked and prodded, with teams and teams of doctors coming to see him daily, each one trying to piece together the puzzle that was Zayden, each one trying to help in anyway they could. An operation to help him breathe better, an operation to give him a feeding tube. 

Then the family meeting, in a big board room full of doctors. The meeting that told us they had tested all they could test and there were still no answers. 

They didn’t know why Zayden wasn’t meeting any milestones, why he had a movement disorder that made his whole body dance , why his muscles didnt work as they should and why his eyes couldn’t stay still and why he had so many seizures. 

But by this stage Zayden was well nourished breathing well and smiling again. They had done all they could do and it was time to go home and continue with life. 

We never stopped visiting doctors, however 17 months own we are still without answers. 

Now Zayden looks healthy, he never gets sick. He fights against his muscles constantly. Sometimes he has better days than others. Sometimes he can eat, other times it’s too hard. Sometimes he can smile, other times it’s too hard. His eyes never do what they should and now we only see his eyes for a few minutes a day and the rest of the time they are closed shut. His seizures go up and down. His body constantly dances its little dance. Some days the dance slows and his body is all floppy, other moments he is stiff as a board. 

He loves to be cuddled and carried and spends a lot of time in our arms as he is completely reliant on his family. 

 

He has a beautiful gentle personality, he is a warrior who rarely complains. He doesn’t have words yet but he has remarkable bonds with his brother and us. 

 

We still hope for answers but until then we will continue to believe that no diagnosis means no limits. 

 

*Join the international Undiagnosed diseases online community.

 

Share this

Share your photos, videos and your experiences!

Be part of Rare Disease Day by sharing your story with others and sending a message of solidarity! You can write about your story and also submit photos or a video testimonial.

Stories Of The Week

Infantile Neuroaxonal Dystrophy (INAD) Infantile Neuroaxonal Dystrophy (INAD)

Alice from Brazil is living with Infantile Neuroaxonal Dystrophy (INAD)

Isabela, Infantile neuroaxonal dystrophy, Brazil, August 23, 2021

My name is Isabela, I am Alice's mother who is 3 years old. We are from Brazil!Alice had her normal development until she was 18 months old. Alice sat alone, crawled and walked with support. After she...

My family My family

Xander's Journey finding a cure

Yohanna, SLC6A1, United States, March 1, 2021

My name is Yohanna. I have a 3-year-old name, Xander. He was born healthy, and everything was great until he reached six months. I noticed he was not getting his milestones, and of course, I was conce...

Mia Mia

Mia

Maja, 1p36 deletion syndrome, Croatia, February 28, 2021

My daughter Mia was born with congenital cytomegalovirus infection and from birt we new she will face a lot of obstacles in her life. We were told she will never walk, talk etc. But she was little war...

SuperBouli SuperBouli

Story of SuperBouli

BOULI, Sandhoff disease, infantile form, Lebanon, February 27, 2021

SuperBouli for rare disease day 2021Read my story or watch the video to know why I am superRarehttps://youtu.be/Rw4hV_sk6VQHello!!! I am Bouli, and this year, on the 28th of February, the rare disease...

Photography credit: Oumayma B. Tanfous Photography credit: Oumayma B. Tanfous

Keep on Smiling

Maria, Beta-thalassemia, United States, February 25, 2021

Keep On Smiling“Keep on smiling” the young doctor said to me at an impressionable age of ten. Those words, at that time, influenced the rest of my life. I was born with a rare disease, Beta Thalassemi...

On my Instagram-account (@bibi_wheelchair_traveller) I raise awareness for the disease ALS, I share my thoughts on disease and disability and present our way of wheelchair-traveling. On my Instagram-account (@bibi_wheelchair_traveller) I raise awareness for the disease ALS, I share my thoughts on disease and disability and present our way of wheelchair-traveling.

"Juvenile ALS" occurs in less than 1 out of 1 million people

Bibi, Amyotrophic lateral sclerosis, Austria, February 24, 2021

Hi, I’m Bibi, 32 years old, from Austria (Europe) and was diagnosed with ALS (Amyotrophic Lateral Sclerosis) at the age of 18.My first symptoms started to show in 2005 when I was 16 years old. I notic...

Hagamos visible las enfermedades raras... Hagamos visible las enfermedades raras...

Nahiara... el amor en persona

Claudia, Williams syndrome, Argentina, February 24, 2021

Mi nombre es Claudia, mamá de Nahiara,  ella fue diagnosticada a los 7 meses de edad con Síndrome de Williams, una detección en el cromosoma 7q11.23. Dentro de las características principales de éste ...

Palden and Mom Palden and Mom

The Glimpse into Palden's Journey as the First SMA Patient of Bhutan

Ugyen, Spinal muscular atrophy with respiratory distress type 2, Bhutan, February 22, 2021

Palden is a 12 year old girl from Bhutan. She was diagnosed with Spinal Muscular Atrophy (SMA), Type II, at the age of 9 months, as the first case and one of the only two diagnosed in the country. SMA...

Laurenne in Wellington Laurenne in Wellington

You have what now?!

Laurenne, Panhypopituitarism, Hypogonadotropic hypogonadism, New Zealand, February 10, 2021

Hello to everyone reading this, my name is Laurenne, and I was born with congenital Panhypopituitarism (CPHP), and Hypogonadotropic hypogonadism (HH)It briefly means that all the hormones that a funct...

Yasmin ElSamra & mama hanaa elsadat Yasmin ElSamra & mama hanaa elsadat

Yasmin ElSamra left a legacy

Yasmin ElSamra, Epidermolysis bullosa dystrophica, Egypt, February 6, 2021

Epidermolysis  Bullosa (EB) is a genetic condition that causes the skin to be fragile, blistering easily. Blisters and skin erosions form in response to minor injuries or frictions. Mutations in the C...

X

Share your story




(To find the english name and more information about your disease, click here). Start typing the English name of your disease. Please choose from the suggestions that appear. If your disease is undiagnosed please write ‘undiagnosed’, or if you would like to list multiple diseases, please type in a list separated by commas.