• English
  • French
  • German
  • Italian
  • Portuguese
  • Spanish
  • Swedish
Back to Firefly Blog

Our Diagnosis Journey

Our Diagnosis Journey

Six years on I can remember the exact moment I opened 'the' letter from the geneticist.

There it was in black and white. My son, my precious baby boy, had a very rare genetic disorder

It was something called ARX, aristaless homeobox disorder. Now if you're like me you will have never heard of this! I did what anyone would do. Yes, I contacted Dr Google!

Now this didn't help me. This condition is so rare that there are no sites that lay out the symptoms, causes and treatment for ARX. All I could find were coding sites.

I played those words over and over again in my head for days. I had searched for years for something to blame for the horrible things that had happened to my child.

I was still none the wiser.

Would my child be ok? What would his life expectancy be? Will he be able to do what other children can do? Will he live a normal life? The list was endless.

We waited an antagonizing few months before we saw our geneticist. She explained that ARX is rare and there isn't a lot of research about it. What they could tell us was that it was not a degenerative disorder, so he wouldn't get worse.

It is a hard to control epilepsy disorder. It can cause lissencephaly, ambiguous genitalia and cognitive impairment.

For Ethan it presents in global developmental delay and hard to control epilepsy.

We are advised to take each day as it comes.

If we can keep Ethan well and get his seizures controlled then he stands more of a chance of living a long happy life.

Ethan’s seizures are the biggest thing for him to deal with. It was described to us that he is always in a state of epilepsy.

His brain is always either preparing for a seizure, having a seizure or recovering from a seizure.

Having a diagnosis allowed me to stop looking for answers. I had my answer to what was causing all of Ethan’s problems. I could stop my search.

My attention then turned to trying to do all I could to give Ethan a full and happy life.

Ethan’s diagnosis does not define him. He is a gorgeous 8-year-old child who just so happens to have a diagnosis of a rare genetic disorder. This will not now and will never stop him from bringing a smile to everyone he meets.

Firefly Blog

Real life stories, issues and experiences of day to day life by special needs parents and
healthcare professionals.

Naomi Aldridge

Meet Our Blogger

I am a special needs blogger who writes about mine and my son's special needs journey. I love being a mummy to Ethan and I want to share the highs and lows with those around us to raise awareness of life with a disabled child.

View Naomi’s Profile

Become a Firefly Blogger

Would you like to write for Firefly? Join our blogger network of parents, therapists and professionals.

Get In Touch

Become a subscriber today

Join over 40,000 subscribers to our weekly newsletter with insightful articles just when you need them.

Join Mailing List

By using our site you agree to our use of cookies. Click here for more info.

Accept & Close

No Interest if paid in full in 4 months on

Purchases on £99+

UK Customers only. Subject to credit approval. See terms below

Paypal Credit

Pay now or pay over time with PayPal Credit. Just use PayPal Credit in PayPal checkout.

Subject to credit approval.

Purchases of £99+:

No Interest if paid in full in 4 months on purchases of £99 or more.

  • A minimum monthly payment is required and may or may not pay off the promotional purchase by the end of the 4-month period.
  • No interest will be charged on the purchase if you pay it off in full within 4 months. If you do not, interest will be charged on the purchase from the purchase date at the Purchase APR applicable to your account.
  • Any remaining balance due after the 4-month promotional period or any transactions under £99 will be charged interest at 19.9% p.a. (variable).

Purchases of £98.99 or less:

Buy now and pay over time with PayPal Credit when you spend £98.99 or less.

  • If you pay your balance in full each month by the payment due date that is on your statement, you can avoid paying interest.
  • Or, make minimum monthly payments, or any additional amount of your choosing, until you've paid off your balance according to your standard account terms. Please note, interest charges may apply.
  • We'll send you email reminders when your payments are due. You can also keep track of your account and view your statements online at any time.

About PayPal Credit

  • PayPal Credit is a reusable credit line available on purchases at thousands of stores that accept PayPal. It's also available for purchases on eBay and exclusively at thousands of other online stores. Plus, it comes with the same security and flexibility you trust from PayPal.
  • In order to maintain the 0% offer, you need to keep up monthly repayments and stay within your credit limit. Credit subject to status. Terms and conditions apply. UK residents only.

Please wait...