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Undiagnosed Children’s Day

Undiagnosed Children’s Day

I blame my grandmother who had an extraordinary kitchen garden, that she was constantly tending.

I love to wander around gardens quietly murmuring the names of plants I know under my breath.

Finding an app that supplements my knowledge was a day of great excitement.

Photograph a flower, the app matches it and presents you with the possibilities in order of likelihood.

When you have a child whose development or heath is unusual, rare or unexpected the approach a Paediatrician takes is similar.

Take a case history, do a physical examination, run it past an internal database of likelihood, then match that against test results.

If none of the results match a known condition, it’s likely that you will be given a general label like Global Developmental Delay, that describe the symptoms, without naming the cause.

If you are a parent this can be very difficult and provokes hard and uncomfortable questions

How will my child progress?

Will my child catch up with their peers?

Could we pass the condition onto further children?

Will my child die?

Is there a treatment?

Truly no doctor can answer these questions fully, even with a diagnosis, but they can use other knowledge to look at likelihoods,and point the family in the direction of tested treatments and (importantly) support groups.

Did you know that approximately 6,000 babies are born in the UK a year with significant difficulties that have no diagnosis?

I do, only because Pearl was one of these babies. For nine years we had two pages of A4 describing results of every kind of scan, metabolic and genetic test known to Science. But still no answers, and a growing list of questions, which were added too with every new medical event, or milestone missed.

The world finds this a strange and disturbing situation. Many people clearly thought we had the wrong doctors, or just were not trying hard enough.

It was an odd and lonely position to be in.

Fortunately, we found SWAN UK. SWAN (or Syndromes Without A Name) is the charity run by the Genetic Alliance to support parents and families of undiagnosed children, and the children themselves.

There is information, days out, online support and best of all a general feeling of belonging.

The Genetic Alliance is involved in continuing research, and because of the involvement of SWAN Pearl’s DNA was entered into a project called Deciphering Developmental delay, aiming to find firm diagnosis. Some children who took part still have no diagnosis, and those, like Pearl that do have very rare genetic conditions.

Pearl has novo mutation in GNA01 (with plenty more specific numbers, that are even harder to understand) It has been caused by the deletion of a single amino acid in the genome.

It is extraordinary to me that science can study the genome in such detail, that such a small change in genetic information can cause such big changes in development, and frankly that anyone develops ‘normally’ at all.

This year the theme of Undiagnosed Children’s Day on the 27th of April is Super Heroes.

Look forward to seeing Social Media filled with fabulous individuals whose superpowers including dealing with daily uncertainty about the future, and rocking a cape and mask.

Because of the Super heroes involved with SWAN, now we have Pearl, a diagnosis, our friends at SWAN and a whole new GNA01 family!

Which is (on my birthday, also Undiagnosed Children’s day) a whole new thing to celebrate!

Firefly Blog

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

Jane Scott

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Mum of 3.Reluctant special needs specialist. Champion procrastinator. Need an opinion? Happy to oblige.

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