Rare Disease Day

Published February 29, 2012 by swanfreddie

Today is Rare disease day. A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000.
As far as we are aware Freddie has a unique disorder making him very rare. We have no name for it so for now it is referred to by us Freddie syndrome. As we don’t know of any other children as yet that are similar to Freddie we have no information on what to expect from Freddie so i can’t tell you about what his future will hold but i will show you how it affects him.

Freddie is 20 months now. According to developmental milestones a typical 20 months olds is able to attempt to take off their own clothes, feed a dolly, be able to say 20-50 words & is learning 5-10 new words a day. They may start to draw straight lines & be able to name several body parts. Some are beginning to show signs of bladder control & are able to walk up the stairs. They can run well & are beginning to ask lots of questions.

With the rare disorder that affects Freddie he is not able to do any of these. He has severe global developmental delay. Freddie still hasn’t mastered the basics like how to drink properly from a bottle or eat purees, he doesn’t yet hold toys in his hands & he doesn’t laugh or babble. He can sit for short periods & bares a little weigh when held tightly.
Some of the symptoms of Freddie syndrome include failure to thrive, dysmorphic features,  atrial heart defect, stridor and tracheal tug, a retro position epiglottis and micrognathia, high arched palette,  adducted thumb, unusual index fingers, clenched toes and prominent heels, stiff hips, astigmatism & long sightedness, a mixture of a metopic suture & trigonocephaly with Plagiocephaly, eczema & myoclonic epilepsy.

Freddie syndrome can be hard. But its not all doom & gloom. You learn to appreciate even the smallest of things. You become the proudest parent alive when your child does something so small that most parents would take it for granted. I have also had the opportunity to meet some truly amazing people who have helped support me through hard times.
I don’t know if Freddie syndrome will stop him from walking or talking or will shorten his life. I don’t know what his future holds & a big part of me doesn’t want to know. Freddie is an amazing little boy and has a smile that would melt any heart.


One comment on “Rare Disease Day

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