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

Special needs parenting: Limited Edition

Special needs parenting: Limited Edition

Did you know that this Friday, 30th April is Undiagnosed Children’s Day?

Did you know that approximately 6000 children are born every year with a genetic condition so rare that science hasn’t yet discovered what it is?

Did you know that many children remain undiagnosed into adulthood?

I didn’t. Well not until I had my son Brody.

Before he came along I didn’t know that being undiagnosed was even possible. I naively thought doctors had the answers for everything. That science had it covered.

No one really tells you your child is ‘undiagnosed’. You kind of fall in to this land of limbo. In our case I pieced together the lack of answers and global development delay label that my son had been given around the age of 3 and stumbled across the charity SWAN (Syndromes Without A Name) UK.

It was through SWAN UK that I finally found somewhere we fitted in – amongst other beautiful misfits.

Brody is 9 years old and has diagnoses of epilepsy, autism, megalocephaly and hypermobility.

He also has a foot deformity and unstable ankles.

The best way to explain him being ‘undiagnosed’ is that his doctors think that although he has these conditions and symptoms they do not explain the bigger picture.

He has no overarching diagnosis. Up until very recently genetic tests all came back ‘normal’.

This is the first Undiagnosed Children’s Day that we are closer to finding an answer.

They have recently found a gene change in his X chromosome that may explain his symptoms but it’s early days in researching it.

Geneticists in France have found half a dozen other males with the same gene change presenting similar symptoms to Brody.

One day, this gene change – ‘SLITRK2’ – might be Brody’s rare diagnosis.

It’s a rollercoaster having a child who is undiagnosed.

As the years have gone by, I have got used to the unknowns, but in the early days it was really difficult.

I just wanted answers and no one could give them to me. I’m not going to lie, deep down I’d still like answers.

After all, no diagnosis means no prognosis. But time teaches you that really no one has all of the answers, diagnosis or not.

And when you have a child who is undiagnosed the reason that they are is because they have a really rare genetic condition.

So if we are ever in the situation of science discovering what it is, we are at the very beginning of finding out what it means and in reality won’t know much.

The truth is Brody is much more that being undiagnosed.

He is much more that the diagnoses he’s been given and the symptoms that he has.

He is Brody – a happy-go-lucky, raspberry blowing boy who has taught us what’s important in life. He is our biggest teacher and greatest lesson.

He is a limited edition.

Firefly Blog

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

Laura Rutherford

Meet Our Blogger

Mum to Brody & Sydney. Inclusion campaigner. Tesco Junior nappy co-creator.

View Laura’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...