Communication

dear all,

between yesterday and today I spent a lot of time trying to re-read almost all of your messages and it seemed to me a pity that they were posted in various positions of the site, so that maybe communication between us has become really difficult.

I am rather unhappy with this, as communication and gathering information on the disease were my first objectives when I opened this blog/site.

The Forum I created has been neglected. Only a few published comments there, probably because of its position in the bar. I will try to reposition it and to encorage people to post there. Specific local sections could be created so that people coming from the same area can get in touch.

If you have other ideas, please, tell me. I will do my best to find a feasible solution.

 

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I am alive…..

Sorry for not writing for a while but my life has been increasingly more frantic.

I have recently joined an Italian Facebook and Whatsapp group related to the Italian Association for Macrodactyly, which was established in January this year.

This is great news, obviously, as they are trying to organize a meeting with experts in December in order to raise awareness, fostering the exchange of information and the drafting of diagnosis and treatment guidelines, in order to satisfy the many unmet needs in this condition.

Some of the members raised a question as to whether the condition might be inherited or run in families. Though doctors deny this possibility, the disease is still pretty unknown and I don’t think they have sufficient information to state this in a definite way.

For this reason, I wanted to ask all of you if you are aware of any cases where the disease affected more than one person in a family. If so, please comment below.

You don’t obviously need to provide the details, if you do not wish so. This is just for exploratory purpose.

I thank you all in advance for your kind help! 🙂

Unpleasant pop-up

Many of you will have probably noticed the unpleasant and annoying pop-up on the blog…….

Unfortunately, I had to add a widget to the blog for this pop-up to be shown on all pages since EU legislation (concerning cookies) requires me to do so.

I am really sorry, but the alternative was to close out the blog, because for those who do not comply high penalties apply.

But this was not an option since I think it can be useful to many people.

We will have to live with it, then!

First psychological issues

When did your little ones start feeling uncomfortable with their feet/hands?

Two weeks ago, we were having lunch and suddenly my daughter asked me: “Am I not wearing socks at my gym recital?” 😦

“Of course, you won’t. All the children are supposed to be barefoot” – I answered without even thinking.

But soon after I understood what the point was…..

She was feeling uneasy about her foot (the first time ever!).

So I asked: “Are you ashamed about your special toes? Your friends have already seen them during the swimming class. Haven’t they? What’s the problem, then? If you have changed your mind about surgery, please, tell us, we will find a solution together.”

But surgery is not a point yet. She does not want to be told about it. She refuses it with all her strength.

What am I supposed to do? Shall I instist or let it go?

What was your experience (for those who postponed surgery) to this regard?

Our follow-up yesterday

dear all,

yesterday we had our follow-up appointment after 2 years. My daughter is now 6 years and a half.

The situation is fairly unchanged.

In March 2013 we noticed an increase in the length difference between the 2nd digits (the normal and the macrodactyly one; from 0.5 to 1 cm) as compared to the previous measurement of 2011; in February 2014 a new increase (0.5 cm) but in both digits (so this is good news) and no changes since then. We changed shoe size since February and this means that this was due to the other parts of the foot (and NOT the macrodactyly toes) having grown. The 3rd digit is unchanged since 2011.

Given the above situation and the fact the we still use shoes with the same size, the doctor suggested that we should continue with the observation strategy. If nothing changes to the worst, he is going to see her at 9 (according to the doctor this is an important stage in female growth).

As far as surgery is concerned, he said that this will have to be done at some time but he hopes we can delay it as much as possible.

By the way, my daughter doesn’t want to hear about surgery yet. She says she is satisfied with her big toes as they are, and does not want “to cut” them…. I think she will change her mind as she grows up…. time will tell. In the meanwhile we can only wait and try to gather as much information as we can.

 

Classification of macrodactyly

According to Orphanet, macrodactyly is classified as follows:

http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=20971&search=Disease_Classif_Simple&new=1

Unfortunately no summary exists on the disease on Orphanet.

Moreover, I have run a search on the Eurordis database, and no online community exists on this disease. RAREST AMONG THE RARE!

http://www.eurordis.org/content/rare-disease-online-communities

Updated pdf

Dear all,

as promised I have updated the pdf with our Stories:

OUR STORIES. (Last update December, 1st, 2014)

As you’ll see, there are many missing data and many people have been lost to follow up.

For this reason I have decided to write an email to all the people who commented here to know if they have any updates they wish to share.

I will also add an option to stop receiving emails.

Thanks for your support!

Tomorrow our follow-up visit

Hi there! I hope everybody is doing well!! I know, it’s been long since my last post here and once again I have been terribly late in approving new posts.

Tomorrow we are having a follow-up appointment (after two years from the last one). We had an x-ray last month and the situation seems almost unchanged (apart from a couple of new bones in the feet which weren’t present last time). I will let you know what the doctor says…

I will also try to update the table in the our stories section…..

New pdf update

In the OUR STORIES section you will find the newly uploaded pdf.

At first I had thought not to mention the nick names; however, I then realized that this implied a greater difficulty in filling in updates to the stories should they become available. For this reason, if anybody wants me to remove the nick name or the entire row relating to his/her story, do not hesitate to write me. However, you should also remove your comment(s), since they are all still here.

As you will see I have tried to put together people living in the same area, so that maybe you can find someone near you and share your experience privately.

It would be great to have updates on people who wrote in 2011 or even more recently. How are you/your kids doing?

ciao

Fede

Updated pdf

dear all,

this is to let you know that I have just published the first draft of the pdf on the OUR STORIES page.

It contains the stories of people who published them through comments in this blog. I still have to go through the emails that were sent to me personally.

For those who have commented in the past, I would be very happy to know how you are doing now.

I would also like to thank all of you for sharing here. Sorry for not replying to all of your posts. I would have liked to but I would need a 48 hours clock to do everything I would like to…..

 

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