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Fernanda
@fernandavidigal

Posts: 6
Joined: Jun 21, 2016

Anyone with keutel syndrome?

Posted by @fernandavidigal, Jun 21, 2016

I have a 5 year old daughter with vitamin K–dependent carboxylase mutations (GGCX) that causes bleeding and non bleeding disorders. She has both vkdb and keutel syndrome. I am trying to find other families with one or both diagnoses to share as there is no one else in my country.

REPLY

Welcome to Connect @fernandavidigal. I moved your message to the About Kids & Teens group to introduce you to other parents who have children with rare conditions. As you have already pointed out, it is hard to find other families with this particular combination of diagnoses. However I hope by introducing you to a few other parents, you will feel less alone. Please meet @barsta whose son has Kleine Levin syndrome and @wymanjg whose son has tetralogy of Fallot.

My hope is that by starting this discussion thread we might attract other families who have the diagnoses of GGCX, VKDB and/or Keutel syndrome. I imagine you have learned a lot about these conditions. Can you tell us a bit more about you and your daughter? When was she diagnosed? What was your journey like to get a diagnosis?

Liked by Fernanda

Hi again @fernandavidigal,
I was talking to a friend whose son has a rare genetic disorder last night and asked her about sources of information and networks. She provided me with these websites.

Unique Rare Chromosome Disorders UK (fantastic plain language explanations and large database of chromosome disorder families wishing to connect)
‎Closed Facebook group available if you are a registered member. It is called Unique Chromosome Network Cafe.
‎http://www.rarechromo.org/html/home.asp

ARCAN- Australia Rare Chromosome ‎network
Closed ‎FB group available if you are a registered member.
http://www.arcan.org.au/

Rare Connect
‎https://www.rareconnect.org/en/register

Chromosome Disorder Outreach – USA, excellent information – they forwarded our son’s test micro array to one of their geneticists to help clarify what we were actually looking at (with our permission of course) and he walked us through the test results.
‎http://www.chromodisorder.org/

She also added: “There is something to be said about the “Rare” community. At the beginning of the journey you want desperately to find the “same”. Time passes, and you realize that diversity may be a better choice anyway.”

I hope this helps.

Liked by caretothepeople

@colleenyoung

Welcome to Connect @fernandavidigal. I moved your message to the About Kids & Teens group to introduce you to other parents who have children with rare conditions. As you have already pointed out, it is hard to find other families with this particular combination of diagnoses. However I hope by introducing you to a few other parents, you will feel less alone. Please meet @barsta whose son has Kleine Levin syndrome and @wymanjg whose son has tetralogy of Fallot.

My hope is that by starting this discussion thread we might attract other families who have the diagnoses of GGCX, VKDB and/or Keutel syndrome. I imagine you have learned a lot about these conditions. Can you tell us a bit more about you and your daughter? When was she diagnosed? What was your journey like to get a diagnosis?

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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.

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.

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….

Enviado do meu iPhone

@colleenyoung

Welcome to Connect @fernandavidigal. I moved your message to the About Kids & Teens group to introduce you to other parents who have children with rare conditions. As you have already pointed out, it is hard to find other families with this particular combination of diagnoses. However I hope by introducing you to a few other parents, you will feel less alone. Please meet @barsta whose son has Kleine Levin syndrome and @wymanjg whose son has tetralogy of Fallot.

My hope is that by starting this discussion thread we might attract other families who have the diagnoses of GGCX, VKDB and/or Keutel syndrome. I imagine you have learned a lot about these conditions. Can you tell us a bit more about you and your daughter? When was she diagnosed? What was your journey like to get a diagnosis?

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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

@colleenyoung

Welcome to Connect @fernandavidigal. I moved your message to the About Kids & Teens group to introduce you to other parents who have children with rare conditions. As you have already pointed out, it is hard to find other families with this particular combination of diagnoses. However I hope by introducing you to a few other parents, you will feel less alone. Please meet @barsta whose son has Kleine Levin syndrome and @wymanjg whose son has tetralogy of Fallot.

My hope is that by starting this discussion thread we might attract other families who have the diagnoses of GGCX, VKDB and/or Keutel syndrome. I imagine you have learned a lot about these conditions. Can you tell us a bit more about you and your daughter? When was she diagnosed? What was your journey like to get a diagnosis?

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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/

Liked by Ali Skahan

@colleenyoung

Welcome to Connect @fernandavidigal. I moved your message to the About Kids & Teens group to introduce you to other parents who have children with rare conditions. As you have already pointed out, it is hard to find other families with this particular combination of diagnoses. However I hope by introducing you to a few other parents, you will feel less alone. Please meet @barsta whose son has Kleine Levin syndrome and @wymanjg whose son has tetralogy of Fallot.

My hope is that by starting this discussion thread we might attract other families who have the diagnoses of GGCX, VKDB and/or Keutel syndrome. I imagine you have learned a lot about these conditions. Can you tell us a bit more about you and your daughter? When was she diagnosed? What was your journey like to get a diagnosis?

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

@colleenyoung

Welcome to Connect @fernandavidigal. I moved your message to the About Kids & Teens group to introduce you to other parents who have children with rare conditions. As you have already pointed out, it is hard to find other families with this particular combination of diagnoses. However I hope by introducing you to a few other parents, you will feel less alone. Please meet @barsta whose son has Kleine Levin syndrome and @wymanjg whose son has tetralogy of Fallot.

My hope is that by starting this discussion thread we might attract other families who have the diagnoses of GGCX, VKDB and/or Keutel syndrome. I imagine you have learned a lot about these conditions. Can you tell us a bit more about you and your daughter? When was she diagnosed? What was your journey like to get a diagnosis?

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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

@colleenyoung

Welcome to Connect @fernandavidigal. I moved your message to the About Kids & Teens group to introduce you to other parents who have children with rare conditions. As you have already pointed out, it is hard to find other families with this particular combination of diagnoses. However I hope by introducing you to a few other parents, you will feel less alone. Please meet @barsta whose son has Kleine Levin syndrome and @wymanjg whose son has tetralogy of Fallot.

My hope is that by starting this discussion thread we might attract other families who have the diagnoses of GGCX, VKDB and/or Keutel syndrome. I imagine you have learned a lot about these conditions. Can you tell us a bit more about you and your daughter? When was she diagnosed? What was your journey like to get a diagnosis?

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❤️❤️

@colleenyoung

Welcome to Connect @fernandavidigal. I moved your message to the About Kids & Teens group to introduce you to other parents who have children with rare conditions. As you have already pointed out, it is hard to find other families with this particular combination of diagnoses. However I hope by introducing you to a few other parents, you will feel less alone. Please meet @barsta whose son has Kleine Levin syndrome and @wymanjg whose son has tetralogy of Fallot.

My hope is that by starting this discussion thread we might attract other families who have the diagnoses of GGCX, VKDB and/or Keutel syndrome. I imagine you have learned a lot about these conditions. Can you tell us a bit more about you and your daughter? When was she diagnosed? What was your journey like to get a diagnosis?

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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

Hi Jenn,

Thank you for researching all that info for me. I’ll follow your lead. And will keep you posted. 🙂 warm regards, fernanda

Hi my name is Lisa, my son who is 5 was just diagnosed with White-Sutton Syndrome , autosomal dominant, pogz. He also has mild vermian atrophy of the cerebellum we are hoping to get another MRI by the end of the year.
I have been told that only about 30 people have been diagnosed with WSS, I am wondering if this is 30 people in the U.S.A. or the whole world.

@lisapraska

Hi my name is Lisa, my son who is 5 was just diagnosed with White-Sutton Syndrome , autosomal dominant, pogz. He also has mild vermian atrophy of the cerebellum we are hoping to get another MRI by the end of the year.
I have been told that only about 30 people have been diagnosed with WSS, I am wondering if this is 30 people in the U.S.A. or the whole world.

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Hi!
That’s is tough question to answer! In most cases, when someone tells you that there are a specific number of cases of a specific disorder or disease, it means that there have been “x” number of patients that have been confirmed to have the condition, AND have agreed to have their records (anonymous of course, names and locations and any identifiable details removed) included as part of a study of some sort. As I’m sure you are learning, it can sometimes be difficult to find others with the exact same diagnosis. If it is a rare or orphaned condition (very small # of confirmed cases) it’s fairly likely that you will find patients from all over the world. I know that there is at least one FB group dedicated to WSS (the official group is a closed group so you need to send the community manager a direct message to be added from the more public landing page) and you may have some luck connecting with some of the larger Rare Disease Organizations from around the world as well. While I know this doesn’t really answer your question I’m hoping that it at least explains why you keep hearing the seemingly random number of “30”. I’m quite sure that there are more than 30 patients out there, it’s just that the literature only discusses 30 patients.

I am connected with the Facebook group for POGZ White-Sutton Syndrome, and I have asked if any have a abnormal brain MRI, and no one does. Could I be dealing with 2 separate issues, I have noticed that many of them suffer with migraines and cyclic vomiting, yet my concern is that if my son’s abnormal brain MRI could be the main cause of his migraines getting more frequent and severe, the school staff that work with my son say yes kids get migraines but not anything like your son.

@lisapraska

I am connected with the Facebook group for POGZ White-Sutton Syndrome, and I have asked if any have a abnormal brain MRI, and no one does. Could I be dealing with 2 separate issues, I have noticed that many of them suffer with migraines and cyclic vomiting, yet my concern is that if my son’s abnormal brain MRI could be the main cause of his migraines getting more frequent and severe, the school staff that work with my son say yes kids get migraines but not anything like your son.

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Hi @lisapraska
It’s hard to say if an abnormal MRI will tell you anything about migraines or their severity because it would depend on what abnormal findings are there. Much of the time the findings are considered “incidental” – which means “We looked inside to see what was going on, didn’t find a big flashing ‘x’ marking the spot…but we saw this on the way.” Frustrating I know, but at least it’s better than nothing. An MRI cannot diagnose or differentiate between migraine, cluster, or tension headache. It can help rule out other things that may be contributing to symptoms. An example would be a build up of cerebrospinal fluid on the brain. A paediatric neurologist would likely be a good fit for you. Migraine is not fun at all and I’m very sorry to hear that your son suffers from them. I know that for adults they usually start with keeping a log of when they hit and how often, what you have been eating (food can be a big trigger) the medication used to treat them, (too much of certain medications can cause rebound headaches that don’t respond to treatment) and other general lifestyle questions. They usually suggest keeping the log (filled out daily, headache or not) for 3 months. It might be worth giving it a try while you wait for your next appointment.
Also keep in mind that sometimes MRI’s show things that look rather “abnormal” but don’t actually hinder the patient in any way. Our brains are so complex that even though the technology is available to see them from the outside looking in, we still don’t know exactly how they work! Keep me posted?

@lisapraska

I am connected with the Facebook group for POGZ White-Sutton Syndrome, and I have asked if any have a abnormal brain MRI, and no one does. Could I be dealing with 2 separate issues, I have noticed that many of them suffer with migraines and cyclic vomiting, yet my concern is that if my son’s abnormal brain MRI could be the main cause of his migraines getting more frequent and severe, the school staff that work with my son say yes kids get migraines but not anything like your son.

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@lisapraska ….. I just reread your post- you think he has migraines, or he has been diagnosed as having migraines? Is he verbal?

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