Hi there. My name is Megan and I have a daughter who will be turning 4 next month. I believe she will soon be diagnosed with Chiari Malformation type 1. She had an MRI done a few weeks ago and unfortunately I saw the diagnosis when her online chart was automatically updated with we results. We follow up with her neuro at the end of January.
My daughter was found last year to have a rare chromosome abnormality. She has also struggled with reflux, constipation, food sensitivities, behavioral issues, sleep issues, anxiety, sensory issues, temperature regulation problems, dyspraxia, low muscle tone - just to name a few.
For the past 1.5 years, she has complained somwhar frequently of both leg pain and headaches. (She always points at the front of her head to tell me where her head hurts)
If anyone has any advice for insight for me, I would greatly appreciate it. This poor girl has been through enough already and it breaks my heart to know her troubles are only beginning.
Thank you for the reply and the links. They were very helpful.
My daughter has a deletion of her 16th chromosome named 16p11.2 deletion syndrome. She has been enrolled in a research study through Boston Children’s and we visit them next month as well. We consult with a neuro right there who will have seen her scans so we are blessed enough to get a second opinion right off the bat.
Unfortunately we are no strangers to dealing with doctors. We will travel wherever needed to get our daughter the right team on her side.
Great post by Mandy. I can add that since you're in Syracuse, the CM specialty clinic, TCI is only 5 hours downstate on LI. Heres their link: http://www.chiariinstitute.com/dr_paolo_bolognese.html and they have good ed. videos on it.
Megan, I’m so sorry you and your little girl are dealing with this. When you do
Get the diagnosis (you can also request a copy of the imaging from the radiology dept, the report will be on the disk)take the time to find an NS who is a Chiari specialist. Being a brain surgeon isn’t a qualifier- your daughter needs an NS who does lots of surgeries (on a weakly or at least monthly basis.)Mandy was right about neurologists- most of us have only been met with frustration and a lack of understanding and incorrect information. Keep in mind that finding the right NS may be up to you because the NS you get referred to by the NL may not be a Chiari specialist. There is another mom who just posted that her daughters NL referred them to an NS who had never performed the surgery- not once. I’m telling you this so that you are vigilant of the who and what concerning her treatment.
I’m glad you are here and just know that you are not alone.
Great post by Mandy. I can add that since you're in Syracuse, the CM specialty clinic, TCI is only 5 hours downstate on LI. Heres their link: http://www.chiariinstitute.com/dr_paolo_bolognese.html and they have good ed. videos on it.
Mandy - that underlined section is extremely interesting. I’m sure I had read it at some point, but any neurological issues were so far off my radar, I didn’t think much of it. I know that the research group asks for MRI’s to be done, but since they only do unsedated and Hadley (my daughter) is so young, we never participated in that. Honestly, we didn’t suspect there would be any concerns found so we never pushed further.
I believe - in hindsight - that the neuro strongly suspected CM1, which is why he ordered the MRI. In laymans terms he explained they were looking for something that compressed the spinal column, etc. so for now I feel comfortable seeing how the follow up goes before requesting an appt at the Long Island center. But I am happy to know we have a specialist center so close.
While we are in the extremely early stages (we haven’t even been officially told yet!) we are going to see what options we have aside from surgery. While Hadley does express discomfort, it isn’t debilitating and she is able to play and function during her “bad” days. We will get 3 or 4 opinions before making any decisions and aren’t ruling anything out at this point.
I can’t express how grateful I am for all of your help and support. I have to admit, out of all of Hadley’s diagnoses, this one has been the hardest to handle.
