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Fri, Mar 29 7:26am · CBD oil for pain in Chronic Pain

I’m not sure if it’s been mentioned, but you can take a few drops of the oil and apply it topically to the site of pain. I use a homemade cream on my neck pain (occipital nerve) to calm it down. I can no longer take the internally if it has a higher thc ratio as it triggers seizures. It is believed that it isn’t absorbed systemically if it is applied to the skin- which means it won’t get you high, but I’m not sure I would trust it enough to pass a drug test just in case. It’s not going to ever be a miracle “cure” either internally or externally, but it does seem to work WAY more effectively than any other cream I’ve purchased over the counter.

Dec 7, 2017 · White-Sutton syndrome in Brain & Nervous System

Hi @snicoledenny ! It’s nice to meet you! You’re daughter is the same age as my son- he has some special needs as well but we don’t actually have a name for what his genetic condition is. I’m curious to know how if this was the first time they ran a genetic screen for your daughter? We had one done when my son was about 3 when it was quite apparent that he was globally delayed but now (here in Ontario, Canada anyway) it seems that they are less likely to run a genetic screening as our kids age. I found it all easier to understand and come to terms with once we got the results. How have you managed? Are you both doing ok?
I’m so happy to see that you and @lisapraska managed to both find your way to Connect!

All my best!

Nov 28, 2017 · Anyone with keutel syndrome? in About Kids & Teens

@lisapraska – I did a bit of poking around early this morning and I think I’ve found a more complete answer for you. I’m sure you know that whole genome sequencing technology hasn’t been around for a really long time at this point, and while the technology is developing at a rapid pace, the science isn’t moving quite as fast. All things considered, they are doing well though! It’s not an easy job to figure out the function and interactions of so many individual genes. White Sutton Syndrome is VERY new- the first publication was accepted in December of 2015. While mutations of POGZ have been noted in prior studies of neurodevelopmental disorders, WSS specifically has only recently been defined phenotypically. There will be more patients identified in coming years. The technology in the past was only able to find very large differences within the genome, then smaller differences (like missing a few genes or duplicated genes), but as time moves on and we learn more about the functions of each individual gene we get closer to what I call “nanotechnology”- the ability to find errors within single genes. The good news is that now that WSS is documented and on the map, there is a greater chance for geneticists to test patients for it, research possibilities, and the opportunity for parents, caregivers and patients to connect and share knowledge and experience. In the meantime, you may find it helpful to connect with parents under “umbrella” diagnoses like paediatric neurodevelopmental disorders, Autism Spectrum Disorders, Developmental Delay or Intellectual Disorders.

Nov 22, 2017 · Anyone with keutel syndrome? in About Kids & Teens

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

Nov 22, 2017 · Anyone with keutel syndrome? in About Kids & Teens

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?

Nov 13, 2017 · Anyone with keutel syndrome? in About Kids & Teens

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.

Apr 26, 2017 · Cerebellar Atrophy in Children in Stroke & Cerebrovascular Diseases

Hi @lisapraska – I’m sorry to hear that you haven’t been able to connect with anyone with a similar diagnosis. I felt quite lost at the beginning of our journey. My son has a rare genetic anomaly. He is 11 now, but we received our genetic results at around the same age your son is. Waiting for all of the testing to come back was tough- we knew there was something wrong but we really didn’t know where to start. I didn’t know what they would find so I couldn’t really search for information. And I was really risking looking in spots that wouldn’t be helpful (or even hopeful!) because I didn’t have the full picture without those test results. Then the results came in and I was torn between “Hooray we have an answer” and “What does this MEAN?” This was accompanied by a rather overpowering need to connect with someone that had the exact same anomaly. I kept thinking that if I found someone the same, surely I would understand better. There was also a second round of testing done at that time to check to see if either myself or my husband may have passed on the wonky genes, so there was another 3 months of worry and guilt. I think the guilt hit me hard because I really hadn’t thought of inheritance before the genetic screening. I had certainly worried that I may have done something “wrong” when I was pregnant, but I hadn’t considered unknowingly passing on an altered gene or two.
Unfortunately, I cannot speak to cerebellar atrophy- but I can and do understand a need to connect with others facing similar medical issues and special needs parenting. We were unable to connect with anyone that has the exact same issues as my son (he’s the only one with his genetics) but I have found other parents with a similar constellation of symptoms. That has been life changing for us! The focus has shifted from finding all of the answers to helping my son and family live our best possible life, in a comfortable way, every single day. It has taken a while to get here, but all in all the journey has been more than worth it.
Feel free to chat any time- I’m never far away!

Mar 27, 2017 · Undiagnosed, debilitating health condition in Autoimmune Diseases

I don’t have personal experience with autoimmune diagnostics, but I do know a number of fellow Canadians that have. Can you narrow down to province for me, perhaps via DM? Happy to help in any way that I can!