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

Rare Conditions Are An All-Too-Common Story

Rare Conditions Are An All-Too-Common Story

I’d been waiting all afternoon to talk to the attending doctor, and he still hadn’t arrived by eight in the evening.

But as luck would have it, he of course arrived at my daughter’s bedside just minutes after I’d left the unit.

My husband was still there pacing back and forth like a point guard next to Mia’s bedside, so I knew she was in good hands.

The long awaited talk with the attending doctor is always a special occasion in the hospital, not only because we get to talk to the person that is calling the shots, but because it is also the chance to explain the intricacies of our daughter’s rare diagnosis.

Being able to convey these details sometimes can make a difference in the clinical care that is provided.

Carrying the badge of a rare diagnosis means that nine times out of ten, even the most versed doctor will not have heard of your child’s condition—or let alone even met another child with the same diagnosis.

It also means that the hidden unknowns of the rare disease can often cause surprise side effects to typical medical interventions.

Parents of children with rare diagnoses spend a great deal of time researching and networking through the glory of today’s social networks.

Gathering information and anecdotal experiences, basically anything that can paint a picture of the rare condition at hand and hopefully allow for some insight into medical care.

My husband did his best to convey the prevailing characteristics of our daughter’s diagnosis, even spelling out the syndrome twice to ensure that the doctor could do his own research.

So I was a little surprised, when I later read the patient medical history, which read, ‘Patient has an extremely rare genetic disorder called Phasing McMurphy Syndrome. It is not listed in any database.’

I had to laugh at that one, it sounded more like a popular pub than a diagnosis to be reckoned with.

My daughter has a rare syndrome, but it actually is recognized internationally with an estimated 1,000 children and adults currently diagnosed worldwide.

She happens to be the only registered case in Switzerland, even though statistically there should be more.

It is called Phelan Mcdermid Syndrome (P-MS), and involves a micro deletion on chromosome 22, so it is sometimes also referred to as 22q.13 Deletion Syndrome.

Sadly, this is not an isolated scenario.

Families with rare diagnosis children are born into the role of advocate from day one, mostly out of necessity.

Firefly Blog

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

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...