Newly diagnosed and overwhelmed

Hello everyone!

First I want to say what a great site this is and how very greatful I am for all the information I have found already.

My daughter is 15 and has recently been diagnosed with Chiari with syrinx. This had been a long time coming. Looking back now I realize she began going downhill almost 3 years ago. We noticed at that time that her feet were turning blue and purple and were swelling. Without going to much into detail she eventually was admitted to the hospital at Vanderbilt where we were told they had no clue why this was happening. She began having extreme pain in all her joints to the point it was difficult to walk or move. She then started having headaches they diagnosed as migraines but we could find no medicines that would help. Soon after she began getting very clumsy (so bad that her friends actually got her bubble wrap for her birthday. She has had 10 different brakes in the last 2.5 years). She had nausea all the time, began having severe insomnia, was unable to ride the bus at all and unable to ride in the car for long periods of time. Nobody had any answers for us and as bad as it sounds we gave up and just learned to deal with her symptoms as best we could.

A few months ago she hit her head and ended up in the ER with a concussion. While doing a CT they discovered she has Chiari. She was sent to the neurosurgeon immediately and has now been scheduled for surgery. This has been a whirlwind and while I am terrified about her undergoing brain surgery I am relieved they finally know what is wrong. Her NS says that after surgery her headaches, nausea and clumsiness should be gone. He said that the numbness in her hands and feet may or may not ever get better.

I guess I’m not sure where to start. Have any of you had her symptoms? Did the surgery help? Any complications? Recovery?

I appreciate any and all advice. I am so overwhelmed and thankful at the same time!

My daughter had surgery last year after years of pain and misdiagnosis...there is hope...make sure you find out how many chiari surgeries the surgeon has performed...Chairi Institute in long Island has a good 'track' record. I understand your pain as a Mum..stay strong THERE IS HOPE and HELP. LOOK AFTER YOURSELF so you can be there for her..walks, music,writing..what ever allows you time for you.

Thank you everyone for the info and support.

Theodore, I’m so happy to hear your daughter is doing great. Our NS is the head of the depr. At Vanderbilt and has done hundreds of Chiari surgeries over the last 25 years.

Beeba, thank you for your post. Actually saw the ortho dr this morning to remove yet another cast and put her in a boot. On the last visit we did a ton of bloodwork looking for a reason for the bones breaking so we went over that. While we know that is not a part of the chiari I know the clumsiness is. Her bloodwork came back ok except that her ANA was positive. So now we are being sent to a rheumotologist. I had Alyssa do the things you asked about. She did every single one. She has always been able to do things with her hands that make most be sick. Actually her ortho hand dr cringes every time he sees her because she can turn her thumb completly around. I will look into this ehlers dannors. While I do not want anything else to be wrong I would like some answers. I know that chiari is her main problem but I believe there is something else going on as well.

Beeba,

Wanted to let you know that we got Alyssa’s biopsy and test results back yesterday. She does have ED. I do not know how to express my gratitude. If you had not read our story and told me your thoughts I would never have been able to take it to her doctors. While I am overwhelmed at now not just dealing with the chiari but also with ED I am thrilled we finally know what’s wrong with her. Tha k you thank you from the bottom of my heart. You are an angel!

Thank you Abby. I will look for the book. We don’t have much info yet. Her dr said lets get the chiari surgery out of the way and then we can deal with the ED.

Beeba, you mentioned dysautonomia? Alyssa was diagnosed with neurocardiogenic syncope last Oct. he has been on a strict salt regimen ever since. Is this all related?

Yes, she passes out. Her heart rate and blood pressure goes sky high for example one ER visit she was 182/120 and HR was 170’s. her cardiologist said it has to do with the way her brain and heart signals are mixed. We keep her very hydrated with lots of salt and electrolytes (seems silly with high b/p). She seems really controlled so far though

I Have Chiari 1 Malformation and haven't had a CT in almost 2 years...I have all of them except for the swelling...well I had swelling once for some reason, but after that day, not again. My doctors won't help me...I've just been dealing with it. I'm hoping that surgery takes care of all her symptoms! It's not fun, living with this for such a long time...Good luck!

I am a critical care nurse. I have been for 14 years but until the last 6 months I have never felt out of control. It still amazes me how all of her issues are related. We find out everyday how another one is related to something else. We are very blessed to have a PCP, cardiologist and neurosurgeon who listen and are willing to step out of their comfort zones to figure out what is best for HER.

Beeba, I also set up a care page to update everyone after her surgery. If you send me your email I will add you.