Tag Archives: genetic

Phone calls to everywhere

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Let me tell you guys something about living in Poland. It is HARD. Most of the time its not so hard, and then sometimes, its UBER hard. Like when your kid has been diagnosed with a rare disease that affects 1 in 20000 and your dr’s have no idea where to send you, like when you have to randomly google and try to find where to go and call and be hung up on by people who are scared to say they don’t speak english (Im sure they don’t mean to be rude), like when your husband is in Dubai and cant help because all the calls are long distance and many places don’t answer when they see a foreign number calling.

Like when you are texting instructions to your Polish friend and she spends literally days on the phone making phonecalls for you. DAYS. So far 4 physios do not want to see us. They are scared they will hurt her and they have never dealt with EDS. The dr we already saw is researching other more suitable drs, but his receptionist hangs up on you because I can only say hello and his name in Polish… the rest is english!

I have been looking (not so actively admittedly) for a genetic specialist since October, and the private one says the testing is not available at all in Poland, the private lab says they can do the genetic testing but its 6500zl. We have a referral to do it in public health which would be cheaper, but seems there are no genetic specialists? Or there are and they are hiding. Our dr. said forget it, you will wait years, go private. So do I go directly to the lab and get results that I wont understand? Go to the private dr that wont do the test? Or take my now probably expired skierowanie to all the NFZ places and hope they will help? There is an EDS specialist in Warsaw, one of our dr’s (dr S, THANK YOU for your absolutely amazing dedication to us) has been emailing him, but he is not replying.

Thank God for Daria. She called the NFZ Head office and got two numbers from them to call, tomorrow we will try again. I say we, because while she makes the calls I sit and fret and drink to much coffee (again) and try to keep more hairs from going grey (unsuccessfully I may add).

As a backup I also posted in the expat group and got a link from there for a genetics place, it says they mainly look for other things but surely they can do EDS too? Lets see. Fingers crossed InshAllah!

Must go drink more coffee. Number 7 I think? Its only 4pm 😀

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Celiac runs in families…..

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I need to talk about Celiac disease today. Maybe its the lack of glutenfree UAE meetings or the lack of interviews this last month, but I really need to tell people about this.

Why? Because I DIDNT KNOW. And IF I had known, our life today, could have been so very very different.

Celiac disease is genetic. You either have the gene or you don’t. Now, here is the tricky part, you can have the gene, and never ever develop celiac, because when you are born, the gene is not active, its just THERE. Then, at some point in your life, it may (or may not) ‘trigger’ (become active). For some people this happens after a major illness, surgery, a period of immense stress, for many women it can be triggered in pregnancy or childbirth. Some remember getting ill after losing a significant other. It really can be anything. Celiac has so many variations, one glove never fits all.

So, once Celiac is triggered and the person gets ill and hopefully diagnosed, then what? Then you need to test all the relatives, in some countries all first degree relatives are tested as routine, in others they only test those who may have symptoms. I personally think you should just test everyone, because while one celiac may have 20 symptoms, another may only have 1.

If a relative tests positive, then obviously that person will need to go on to have the biopsy and have Celiac confirmed. But if you test negative…. that is NOT the end. Please remember, the gene can trigger at any time. So regular screening is necessary. Some like to test yearly, others test if they feel unwell, others do a genetic test to see if they carry the gene (if you don’t have the gene, then no further screening would be needed), others still just go on a gluten free diet to prevent getting to sick in the event that the gene triggers.

Very often when someone gets diagnosed, testing on family members starts and it turns out Celiac has been in the family for forever with grandparents, aunties and cousins also being diagnosed. Some relatives may point blank refuse to be tested. ‘Ive been fine all these years….’.

Ask your Dr for a leaflet or a family appointment so that everyone can hear it from the medical professionals themselves.

If you are an undiagnosed relative of someone with Celiac, its important to mention this if you are ever under medical care. You may be in hospital with pneumonia and think that its not important because you were tested 6 months ago. but it IS important, always tell the Dr.

Celiac disease doesn’t have to be a big deal, the earlier its caught, the sooner you start the diet, the better. The longer it goes un noticed, the more damage it will have time to make. Some reversible, some not.

Are you Celiac? Share this information with your relatives. Often.

And remember, a blood test for Celiac will be negative for anyone already on a gluten free diet or anyone with an igA deficiency. Not all doctors know this! Find one that does.

-Linda

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