Hi, my name is Fernanda. I have a child with an orphan disease. There are only 36 cases reported in literature. She has a mutation in Gege GgCX that causes bleeding and non-bleeding disorders. <br><br>My daughter would get bruises very easily when she was a baby. At two months old she got hurt while I cut her nails. IT was a minimum cut on his fingers , almost invisible, even so, It took almost 8 hours to stop the bleeding. When she had 3 months and a half, her fingers started to get bruised when she sucked them . When she was 4 months, she had a brain hemorrhage. I have been helping her with therapies because of the brain hemorrhage (she lost the frontal left lobe). She is 5 years now. She is behind kids her age due to the hemorrhage, but she is always learning and evolving in her own time. She already speaks and is able to understand and have simple conversation. She is a very happy and loving kid.<br><br>During 2 years she took protrombine complex, 3 times a week. But it wasn't enough and she had to wear helmet, we would be in the hospital every month, she could not play. At the age of 3 she started taking vitamin K. Her clogging sistem got much better and she was finally safe to play. Now we are looking for a solution related to her MGP that does not work because of the mutation. This affects osteocalcin regulation. She has developed keutel syndrome due to this. She might develop ear and vision loss, growth problems, pain in the joints, calcification in organs, veins or arteries, weak bones. Because there are so few of us (I could not find anyone until now) there is no interest for the drug industry). I have to find and engage researchers myself.... <br><br><br><br>Enviado do meu iPhone

Hi Fernanda! My name is Jenn. I have a little boy with a rare genetic diagnosis- we too spent a very long time looking for someone with the same genetic anomaly and have yet to find a perfect (or even close!) match. I really wish that I had words of wisdom for you during this time because I somehow feel that saying "I understand how you feel" just isn't enough.

I do know that sometimes parents and patients reach out to researchers that have published papers on specific medical conditions, in particular those with rare diagnoses. In our early years of trying to understand my son's genetics I contacted a number of authors to see if they could point me in the direction of more information, and always with the hope that they may have enough interest that they could help. I had very positive experiences with this- I received everything from additional studies that I did not have access to, and occasionally a name. I was able to track down physician/researcher on the other side of the world that had not only great interest in 11Q disorders, but an actual database of other patients. From there, we were able to create a Facebook group for parents and families that have anomalies on the 11th chromosome. There are not many of us, and each child has issues on different sections of the chromosome but at least we can say we have found similar families. Rare families tend to flock together- across diagnoses, genetics, and continents. Each a beautiful reminder that the world is diverse and that often despite the odds we are strong.

I do know of some amazing parent/patient led research- one in particular I would love to share with you. I am new to Mayo Connect which means that I cannot share the link myself- I have asked @colleenyoung if she can post it for me below.

Don't give up your quest to find someone that may help. I am hoping that you find this story as inspiring as I do! Knock on every door you find. And until you find a match- please feel free to keep chatting with me! If you have any questions don't hesitate to ask!

I hope this message finds you well. xx

Welcome to Connect @jennsprung. Thanks for joining Fernanda here and for your great post!

Fernanda, Here is the parent-led research article that Jenn refers to in her post above http://arstechnica.com/science/2016/04/sweet-drug-clears-cholesterol-reverses-heart-disease-and-was-found-by-parents/

By the way, @fernandavidigal, Jenn is the friend who provided the information below. I'm thrilled that she joined us here in this conversation.

Hi Jenn,
Thank you so much for sharing. I have written at all rare diseases groups I could find and it didn't work. Yesterday I thought of starting to write the scientists and see if they could help and reading your post really helped me decide to try this path. Thank you also for sharing rare diseases groups and the twins story - really touching and inspiring.
Love, Fernanda

❤️❤️

Hi Fernanda!

I had to do some research for myself earlier this week, and while I was doing it I did a couple of extra searches because I wanted to learn more about Keutel Syndrome. 
You may have difficulty getting assistance from the chromosome organizations I mentioned above if you are looking to connect with other families with Keutel syndrome because it is an autosomal recessive condition. The chromosome groups are more helpful if the condition is spontaneous- one that happens when sperm meets egg, as opposed to one that is inherited- one that is passed on from either parent in either a recessive manner or a dominant one. I could not find a reference for Keutel Syndrome being linked to GGCX mutations (Located at 2p11.2- the short arm of the 2nd chromosome) , but as you know there are not many cases in the literature at this point. So far it seems to be linked mostly with MGP gene mutations (located at 12p12.3- the short arm of the 12th chromosome) . I have not yet cross referenced all of the data but I am working on it because I am curious.
The chromosome organizations would be most helpful if you have had family testing to determine if the GGCX mutation was spontaneous. Not everyone has access to the testing of course because depending on where you live it may be cost prohibitive. 
I did manage to find an article on Keutel syndrome genetics at the Kennedy Krieger Institute- another one of my frequently visited sites. 
Perhaps contacting the author would be fruitful! Here is a link: https://www.kennedykrieger.org/node/85886
A novel MGP mutation in a consanguineous family: review of the clinical and molecular characteristics of Keutel syndrome.
A Google search of the author's name should provide you with some way of connecting, typically through email,
Another thought would be to take a look at this OMIM (Online Mendelian Inheritance in Man) article and see if you can track down any of the authors referenced - http://www.omim.org/entry/245150. 
I am so hoping that this will be helpful. It can be a lot of work to track down researchers- but I have been assured time and again that most researchers can get very excited when readers contact them. They are often even more pleased if the information they have to give is put to good use! 
I do hope you keep in touch! 

Jenn