More tests

 

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Silent is an anagram of listen

As a new born Flynn failed his hearing test in his right ear twice. They give us the option here in Wales,that 6 weeks later if you have concerns you can attend a clinic for further testing.
Many thought it was just a first time mum worrying, but I know my baby, i knew something wasn’t’t quite “right” with his hearing.
Maybe its a coincidence but the last 2 months of my pregnancy I became a bit obsessed with a series called”switched at birth” which is the story of a hearing and deaf girl finding out they were switched and the 2 families living together to get to know each other! I ended up learning a lot of sign as well as the struggles people with hearing loss face. So that was a blessing as I am seriously anxious at the moment!

Anyway, as a baby, sometimes Flynn wouldn’t respond to huge bangs or loud noises and other times he would! He could sleep through anything! Tvs playing,gunfire on CoD, people talking and even all at once!
We decided to return to the clinic.

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He failed the test once again.

The 4th test he had to sleep for 3 hours! We managed it! A miracle!

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We discovered that Flynn had an undeveloped cochlea in his left ear leaving him with basically no hearing. His “good” ear however he just about passed on at 35. It wasn’t great but he had some hearing. There was a lot of fluid on his ear though as well as swelling.  I hoped that with this gone it would improve.
I was told not to be surprised if Flynn didn’t talk. Between his tongue tie and hearing it was going to be a hard journey. He will one day be fitted with an aid.

Unbeknown to us at the time, bor syndrome was the cause of his abnormalities. But whatever the cause, I played the hand we were dealt and ploughed on.

I got him a bamboo box and began to teach him basic sign as well as talking at him regardless of how much he heard. I would tell him what I am doing and make sure he watched me sound out words with my mouth as much as I could. I got used to clapping and whistling to get his attention. Those not in the “know”must think I believe he is a dog bless! I got every development toy I could in desperation to not let him fall behind.

At 11 months old he can say
mam,
dad,
nan,
Gigi(bottle)
breee(bry my partner)
No
up!
He can copy “rawr ” noises and sing his own little songs to himself. It all fells so positive, felt so positive! We were certain his hearing had improved.
Then today, instead of hearing sounds at 35 he wasn’t until 70-80. I am trying not to panic as his dad believes he didn’t “do the test right”as he was far to interested in the blocks they gave him to play with to pay attention to sounds etc! ”
So we are going back in 4 weeks to do it again! Research has shown me that each child with bor syndrome has each “difficulty”in varying degrees so we really can not know what will hit Flynn and how hard!

However I can say he is one brave little boy! I was a bit of an anxious mess today so dad took him in for his bloods for kidney function and a few other things! He was so brave and hardly cried so the nurse gave him a little teddy! It’s so cute!

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He made me very proud.
So that’s the latest update. Something but notthing

So nos da from Wales
Cwtches oeth Emma&Flynn x x xFB_IMG_1451945572802

The diagnosis- Bor syndrome

48 long weeks later at 11 months old, flynn has been diagnoase with #borsyndrome. brachiootorenal syndrome. Quite the mouthful ey! It has been a very long and emotional journey so far. Fear of the unknown has now been replaced with such a huge anxiety for the future. My mind is whirling processing everything the doctors tell me and the many appointments ahead of us.

So i guess i should start with what it is?( I have put a link in the bio. )
However, its a genetic mutation that causes the renal system (ears nose throat and kidneys and sometimes heart ) not to develop in the womb.

Flynn has pits on his ears and he is deaf in his left ear due to an underdeveloped cochlea. He did have very little hearing in his “good” ear but his dad and i think it is improving!
A recent examination showed the previous swelling and fluid has gone down since he was tested at 6 weeks! He will be retested by responses not computer Monday 25th jan. Fingers crossed y’all!
He will have hearing tests at least yearly as hearing loss is often progressive with bors. It feels like even if everything is good now it could so easily change! He has been so lucky so far with only 3 ear infections and periods of complete deafness.

He also has two “holes ” in his neck connected to his tonsils and saliva comes out a bit like spiderman’s web bless him. It can be soar and irritating and unfortunately is a high infection risk. Keeping it clean is a constant effort. There is also a chance the ears and neck can develop cysts so he will be scanned every 4-6 months his whole life. At 4 he will have each hole in his neck cut and the track and tonsils removed so maybe this will lessen. He will then be able to go swimming(he can’t now due to infection risk) which will mean the world to his dad as both he and flynn’s grandad were successful triathletes in their day.

All this depends on his heart. After a fit in September they are monitoring it after a murmur was found and a scan suggests the possibility of 2 instead of 3 valves! Im hoping it was a blurry scan!? He will have heart scans and tests every 6 months.

His tongue tie has grown out but a mucosal bridge has been found in his mouth. This is an abnormal growth in the mouth that can develop cysts which can turn… we will say bad. I can’t write the word😢 we aren’t sure if this is related to bors as his dad and gran have mucosal bridges formed in their mouths too! Flynn has been referred to maxio facial to look to remove it as quickly as possible.

He is also having bloods for kidney functions and potassium and immune system on Monday. Also referrals for renal ultra sounds and a kidney scan. He will have his kidneys scanned twice a year and continuing function tests his whole life.

He has also been referred to the genetics team. I have yet to learn what they will do but i am told that they will determine which of several genes mutated and also which of his dad and i are the carrier. Whoever it is will need to think long and hard before risking more children in the future. Also it means that person’s siblings could give it to their children so would need to be tested? This part i don’t know much about and it has petrified me as i plan to give flynn a brother or sister of his own one day!
We were so pleased with flynn’s development new recently it occurred i didn’t have to wait until he was in full time school then suddenly i may be facing not being able to have more for fear of them having it! The wait for this test is going to feel like forever. Then there is the possibility of flynn giving it to his children.
They may not be as lucky and flynn and get it far worse! But all that is the future i need to take a deep breath for now.

We have worked out for monitoring appointments, for everything, at best i will have to take flynn to hospital 19 times a year! That isnt including his neck op and pre examinations or any ops if he gets a cyst etc or appointments for hearing aids they are talking about for his bad ear. It feels like since i have been pregnant i have lived in and out of hospitals!

I think that is enough for our first entry.

Nos da from wales

Emma and flynn.IMG_20160119_130522