When Celiac gives you presents…..

I talked before about how we are not one of those Celiacs that just get to go gluten free and be done with it. Noooo, in our daughters case (and possibly mine but never mind that lol) Celiac has come with some extra special gifts.

Aili has had bone pain on and off for many years. After her Celiac diagnosis we thought “oooh, thats why she didn’t want to walk / put her feet down, she must have had bone pain”, then the years went by, and the bone pain, it never really went away. From time to time its been really bad, with tears when she has to use a staircase, at times so bad she doesn’t want to walk and we use a pushchair still even though she is 7. We often put it down to her Celiac, I heard myself say many times to people that “she probably has weak bones from not being diagnosed quick enough”. I even explained to people about how when you have no villi your body cant take up any nutrients and your body will suffer.

Villi are the small tiny “hair” like things in your small intestine responsible for “soaking up” all the nutrients in your food. In a Celiac who is eating gluten, these tiny “hairs”get destroyed resulting in a smooth small intestine that is incapable of taking up any nutrients, resulting in varying degrees of malnourishment. 

Most celiac’s of course go gluten free, the villi heals, and over time they feel better. In Aili’s case feeling better hasn’t really happened. Yes, she is growing, no, she has no gluten exposure, but she still has many symptoms from many different things, some still unexplained.

We thought for a long time that her bone pain continuing was growing pain or her silly low vitamin D causing issues, then once the EDS diagnosis came we put it down to that.

I thought a few times about a bone density scan, and it was mentioned to me as well but it was never done, until this summer. When they told me we were doing it I was super happy, because its good to know stuff, not suspect or think.

So yes, bone density done, and yes, it is low. Very low. Far far far to low for a 7 year old. And bingo, a new diagnosis. Osteopenia. Osteopenia is not as bad as Osteoporosis, but its bad enough. Osteoporosis is also known as “brittle bone disease” and Osteopenia is the stage just before that. The bones are weak but not brittle.

We are lucky though, even though our GP had told me to take her off the vitamin D as her levels now are acceptable (they had just crept above 40), I continued them at a high dose. I know Aili better then most and I know what happens to her vitamin D levels when she is not in the sun daily or doesn’t take supplements.

Not saying anyone should go against dr’s advice here, but sometimes you have so many dr’s telling you different things you just have to make some decisions on your own.

I told our rheumatologist I had continued the D  and she actually smiled and gave me a high five, she said things could have been much worse without and to keep giving the D at exactly the dose I am. Now Aili is on other meds as well to help her, but unfortunately the steroids she must take for her lungs counteract with those meds, so all we can do is hope for the best. We were letting her rest a lot because of the Ehler Danlos and the fatigue that comes with it, but now with the Osteopenia we need to push her instead, more walking, not less. Her bones need it to get stronger.

Our lung dr. who has been reading up about Ehler Danlos and osteopenia says that Ailis case is so rare we may not ever fully know what symptoms are linked to which disease, we can learn about some of the diseases separately, but we may never know exactly to the full extent of what is going on with her. We suspect she may have MCAD as well, but nobody in Poland at this point can diagnose that. Her lung disease has never been seen before in a child, or a female. There is nowhere to read about a case like ours – because we are the first.

How much of what we have going on is Celiac related? I dont know. The Osteopenia for sure is, the malnourishment seen in (undiagnosed) Celiac is a direct cause of her osteopenia. Many with Ehler Danlos seem to be Celiac as well, but I can not find any research directly linking the two. The lung disease is un related to Celiac , but may be linked to the Ehler danlos. See….? This is why my hair is rapidly turning grey 😉

At this point I am less interested in having a full diagnosis and more interested in trying to make Aili’s life as normal and as enjoyable as possible. We have had to many hospital stays this year already and whats the point really in going if nothing is changing by us going? Maybe at this point we need to concentrate on the big stuff (lungs) and just try to enjoy ourselves more? To heck with limitations and musts. We do what we can and what is possible.

 

Follow mine and Aili’s journey on my facebook page

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image credit: Donna Roberts

 

 

Riding bikes- done! Lung – done!

So we are back, a week ago actually. And guess what? Hubby did ALL the laundry while we were away so now I can do none and get away with it for probably another 2 weeks! Woohoo!

Both kids learned to ride a bike. First big brother (9), who said “its time, take my support wheels off” and later the same day went on a 3km bike ride, then the day after, zebra kid who simply couldnt stand that her big brother knew how and demanded her support wheels came off too and later that evening did it, all on her own!

This obviously is very late for a 7 and 9 year old, but for kids who were in Dubai until very recently its pretty darned good. We never rode bikes around our sandy roads in Al Waarqa….. We did however let the kids ride bikes in the majlis (formal living room), haha.

Then lungs, the stay was shorter then I expected, but they want us back in 2 months. Her eosinophil count was higher then they expected and the new meds had to be started at a higher dose then previously planned, so we have two months for the meds to do their thing, then back again for a bronchoscopy (her third). The steroid dosage she is on now will unfortunately affect her bones, so we just have to hope her bone pain doesn’t get worse again. Bone pain wise she’s been great for about 4 weeks now with hardly any complaints. I will start the daily bone broth again and continue with the vitamin D and Magnesium oil too. Fingers crossed.

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Overwhelmed

There is so much new information, ALL the time. Celiac… I know this disease, this is my forte, you could ask me almost anything about celiac and I know the answer due to my almost obsessive research. Now, EDS….. and the lung disease no one has ever heard of (including doctors) and that nobody can spell, the diseases and other things she may have or may not. Its just so much to take in. I thought I was ok with it all, that I was coming to terms with it but then I found myself bursting in to tears at physio today and I had to sit with my back to her looking out the window – quietly crying – until I was able to stop.

Not so much that she has all this, I can deal with that, but the fact is she is in pain. Almost daily pain, pain that will be better some days and worse some days but that will probably never ever fully go away.

This is why I cried. Because she is in pain. My tiny teeny little girl who never did anything to deserve any of this, who is so brave and hardly ever complains, she is in pain, and my heart breaks in a million pieces for her and I just want to take all that pain and put it in my body so she can be ok.

I gave her pain meds today, I have only ever done that once before. I didn’t know what else to do. Physio today with hubby there to support language wise was great, we will be getting various equipment for her, to help her stabilise this wonky body of hers, to help her with her pain and hopefully make things a little easier. Again. This is why I cried. 

I cried because my baby girl needs equipment. Not because she has EDS, not because she is different, but because she has so much pain that she needs equipment to try to alleviate some of it.

I cried because my darling girl, after a busy weekend was in so much pain just sitting in the car. I cried because I had to ask my husband to carry her because I knew she would hurt to much walking. I cried because she is paying the price of an awesome weekend with pain.

I cried because I cant – no matter how hard I try – ever take that pain from her.

 

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Physio take 2

Went to our new physio today and it was a success I guess as he agreed to work with us!

She sad it didn’t hurt, which is fab, but the physio said her joints are very loose, which Im sure is not good? He did a lot of gentle massaging and bending and checking, more next time he says. We ran out of time.

He made me prepare videos of things to do at home, 3 times a day. Every day. Not at all overwhelming. (Note the HINT of sarcasm there…)

This afternoon has been a real struggle, she seems absolutely beat. Exhausted, but as opposed to her usually pale exhausted she is a nice rosy pink exhausted, so at least we know he got her blood circulation going! More physio on Saturday then Tuesday and again Thursday. Privately at the moment unfortunately as the NFZ wait list is like 2-3 months, lucky us we get to pay 3 times per week.

So grateful to have a friend who does school runs with oldest 2 mornings a week so we can rest tomorrow morning.  Who said being a housewife was boring? I hardly have time for housewifery between appointments, playing iPad games (my wine you see), and school stuff. It takes all my energy some days just to stay sane. I often wake up at 5 am and google crap, lately I google in Polish too, just to have my bases covered. My polish sucks, but apparently good enough for googling.

Then next week, I will, finally after needing to go for a long time, go to the dr for me. Im gaining so much weight and although I had it all put down to stress and eating chocolate on tough days (which is most days) its getting a bit silly now. Need to check on the thyroid and all the other usual suspects. Cant have the mum falling apart!

Oh, and then, just because I have to say it to people, to you guys…  a lady in the EDS forum Im in posts saying her kid may have CF and shes super scared, another woman goes, “oh CF, yeah, my friends kid died from that”. Really? People….. sometimes, its important to use our brains. Poor lady. The last thing she needed to hear in the middle of a possible diagnosis. As much as we, the mums of all these kids, want and need truths, we go to these “support” forums for support, not to get to feel like someone just shot us through the heart with a poison arrow. Ive been on the CF rollercoaster, and its not an easy ride….

Anyway, time for baths and stories and snacks and meds.

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Its May again

May is important in my house as its Celiac awareness month. This is the first May that we know for sure all 4 of us have it. May is also Ehler Danlos awareness month, and Lupus awareness. How awesome is that? (Or actually not so awesome as it happens). As you know my daughter has EDS and is under investigation for Lupus. May is also when her birthday is!

I will do my proper Celiac awareness post later in the month, but for now, please, if you do follow my blog, pop to my facebook page and share some of the celiac awareness posts Im sharing in May. There will be a new one daily, all tagged #celiacawareness #nochoice #pleaseshare . Maybe we can reach another family like mine, a family that suffered greatly and had never even heard of celiac disease. Maybe we can help prevent some suffering somewhere. So head over, like or share or comment. And Thank You!

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Immunology update

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I forgot to blog about our most recent hospital stay. I did facebook and tweet about it, but not blog. I do that a lot recently, while I really want to document our journey I also find it hard to write, partly because Im so mentally drained, and partly because writing about it makes it so god darned real.

Im a happy kind of guy (ok, lady), I joke and smile and laugh, thats how I get through life, and that stuff that I feel deep inside, it comes out when I write. So when I don’t write…. its because Im not really ready to let it out.

Well, we went to the hospital, zebra blanket, food, toy box etc all in tow. We got admitted for our 36 hour stay and had all the immunology panels re done.

I still have to wait for the subclasses to come back, but the main classes are in, Her E is up almost to 1500 now (should be below 90), still not high enough for a hyper igE syndrome diagnosis but if it keeps going like this it will be eventually. IgE is allergic reaction, and while her numbers are off the chart there are no allergic symptoms. Her M is up (GREAT!) and so is her A and G, the G is particularly great news as it was very low before and its mid range now. If thats all greek to you then lets just say that all those numbers are representing different parts of the immune system. So while before she was borderline deficient in most, now her numbers are looking better, however, as the igE is so high we are still immunology patients. We were hoping to be signed out of immunology, but nope. First we need to see what the subclasses say (letter should come in a few days), then we must repeat all the tests again in 6-12 months. With the igE the way it is we may very well be immunology patients for life. So, immunology, rheumy and lung. Its ok. Im feeling very positive.

Having said all that, being in hospital was a great experience for me this time, we were in a room dedicated to patients doing infusions for CVID and similar. One young girl came in, around 14-15, she did the whole thing on her own! They arrived at 9, the nurses were there supporting but she infused by herself, she stuck herself, infused, and removed once done. She and her mum left by 12. Not sure if her next monthly infusion will be in her home or not, but I was as proud of her as if she was my own child. How amazing. And we CAN live with these things. Its not so bad! Me and her mum, we needed no language. She saw our Zebra blanket and A’s mask and we were instantly in this club together and her smile told me just how much she was there, really there with me.

All in all, immunology, yup, we are still there, but its ok 🙂 In June we go back to Rheumy, then in July back to Lung. Then – DRUMROLL – In September, kiddo tries to go back to school! Keyword here, tries ….

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Phone calls to everywhere

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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