20 month old with Type 1 Chiari Malformation

General Parents and Caretakers of Children with Chiari
1

Hi Everyone,

I am new to this support group and actually new to the world of chiari malformation.

I guess I should start off by introducing myself. My name is Alycia and I have 20-month-old fraternal twin daughters. Last week my daughter was diagnosed with Chiari Malformation Type 1. Our journey began about 7 months ago when our pediatrician felt that my daughter needed a swallow study performed due to the constant filtering sound in her throat, (which began about a month prior) and an appointment with an ENT. When the swallow study was performed the x-rays showed she was aspirating liquids that were thinner than a double honey consistency. Right away this information scared me at the thought of what could be causing it.

Following the swallow study she was referred to an Aerodigestive Team, which consists of a gastroenterologist, ENT, and pulmonologist. From there they recommended a bronoscopy to learn whether or not there were any structural issues, which came back negative.

After the bronoscopy it was time for another swallow study, which showed that her aspiration problems were improving and her liquids could now be thickened to a honey consistency. I was so happy because I thought we were moving in a better direction. She also began Food Therapy, which concentrated on strengthening the muscles in her mouth.

Around this same time I began to notice that my daughter seemed to hold her breathe for 5 seconds at a time while she slept. Right away I suspected sleep apnea and notified the Aerodigestive Team. At that point they decided she needed a sleep study performed, which came back as mild central apnea.

Due to the diagnosis of dysphasia (swallowing issues) and sleep apnea the Aerodigestive Team decided that she needed an MRI performed to check for Chiari Malformation, which came back positive.

Right away we were referred to a neurosurgeon who believes that her symptoms are mild since her sleep apnea was mild and it seemed like her swallowing issues were improving. She also has no other symptoms at this time and he decided to simply have follow up exams.

Well today she another swallow study and we learned there has not been an improvement and the issue is not a lack of strength with her tongue, but perhaps her esophagus is weak. :( To say the least I am so upset. My daughter at this point seems to be developmentally on track and her vocabulary has improved ever since she began Food Therapy in April.

I know I have provided a lot of information, but I guess its because I am wondering if anyone else has a child with identical issues. I have read a lot on the internet and it scares me to read about other symptoms that could possibly occur in the future. I wonder if my daughter will live a happy, normal life or if it will be one consisting of pain. I appreciate any support or information you can provide.

2

My niece is 5 and has had 2 decompressions already. Her symptoms persist. She was checked recently for tethered spinal cord and is now scheduled for the surgical release in Sept. She has been treated at Duke University (leading Chiari research school in the US). My sister says the docs there are the best. My sister, my youngest daughter and I have all been diagnosed in the past year. Keep your head up, your child relies on your hope and most of all, be persistent! You are your child’s best advocate.

3

Hi Alycia, my son was born with a chiari malformation with syrinx. He had the exact same problems as your daughter but worse...a lot worse and a lot more symptoms and issues with it. We found out when he was about 14 mos old because I demanded an MRI be done. My son also developed on track and met his milestones but with difficulty and pain. He has had 2 decompression surgeries and is now 3 yrs old. He is doing a lot better especially the apnea is gone and swallowing is greatly improved. Unfortunately a Chiari Malformation does not get better but usually worse. As she grows she may develop other symptoms. I would watch her closely and get regular MRI's to make sure she doesn't develop a syrinx. My son has permanent side effects from surgery and the Chiari itself, like a hyper gag reflex and swallowing issues and vomiting. He gets tired out easily, more so than other kids his age. He has muscle weakness and gets physical therapy. I really wish your daughter the best!

4

Hi Alycia, I’m so sorry for your fear and pain! Being a mother myself I know how difficult it is to learn such a thing is happening to your darling child!! My daughter had some very scary diagnoses very early. It’s not an easy thing to deal with. :frowning:
I, myself, was diagnosed very young with chiari 1. I had headaches and mild sleep apnea too. The dr showed me the images (a bit later in my childhood) of my brain herniation. He in no way related it to my sleep apnea-this was more than 30 years ago. I recall seeing my herniation then and it was quite large. Why they didn’t offer surgery is beyond me. Life for me went on normally. I always had crazy headaches but they weren’t just chiari headaches so my NL swept the chiari diagnoses under the rug. Fast fwd 30 years. Suddenly I am a mom chasing around a 4 year old and my chiari decides to act up in force, drop attacks, constant nausea and dizziness, issues swallowing, waking up choking etc etc. I finally went back to a NL (I haven’t had one since my mid teens as they never could help me) and she ordered an MRI expecting an aneurysm. It came back with a chiari diagnosis. My NL had no idea what that was but sent me to a NS to see if it could be fixed. I was decompressed this April and all chiari symptoms are gone! I guess the point to my long (sorry)story is that many people can live with chiari for most of their lives and be totally happy/active lives. If I were you I would definitely get a second and third opinion before surgery. If all the surgeons say wait and see, you go with your gut tells you-not the scared anxious mommy top layer, but what YOU really feel is wrong and or needed. We are mothers, we KNOW our kids.
I should add that I was a ballerina who had the opportunity to be a professional but turned it down for school, high school track star and played every sport imaginable as a child and teen all this with a huge herniation. That said, every child and chiari is very different and as I said before-No One knows your child like you do. I’m not sure if this rambling post helped at all -my daughter is pounding on me with dolls the entire time asking me to “be her, be her!!” why did I have only one child?! So I’m more than a little distracted writing this. :slight_smile:
Again, I’m very sorry you are going through this with your child. The poor thing. Good luck, and congrats on twins!! That is awesome and a true job!

5

Agreed with all the above(well, except ignoring your MD's recommendations concerning surveillance images but that is a personal choice)..

There is no treatment for a Chiari other than surgery. It is an anatomical issue that medication won't directly affect. Therapy and medication may help with the symptoms, not with the anatomy.

The bottom line is, you now have additional data since you last saw your neurosurgeon(the lack of improvement on the swallow study in fact contradicts the clinical data they had at the time). You need to go back to them. Always remember, you treat the patient, not the images(MRI, swallow study, etc).

Have a frank talk with the neurosurgeon. You have seen many people above describe repeated surgeries in the younger patient population. There is clearly a higher rate of re-operation in children. In unpublished data(presented at national meetings, although I have never seen published), Boston Children's Hospital has discussed a 50% re-operation rate in patients under 5 years of age. In my personal practice, I have found an 80% re-operation rate in the under 2 year old patient population. The issues with the younger patients include inability to create a large enough decompression(size constraints) and better healing(body closing a hole that wasn't there in the first place).

Virtually every young patient identified is found through cranial nerve deficits(swallowing/breathing issues). The story you describe is common. You do want to ensure that you are seeing someone comfortable with children and Chiaris. I would suggest a minimum expectation would be pediatric neurosurgical board certification. You can look anyone up on the national data base http://www.abpns.org/

There are several discussions on this web site that list questions to ask your neurosurgeon. Look at those and customize them for you. Of course, the biggest question is, how much is your child's life being affected by the Chiari symptoms? Is it enough to consider surgery, knowing it is likely they will need another one in the future(particularly if surgery is performed when <2yo)? Are another other causes visible(have they had a head and entire spine MRI, etc)?

And again, that circles back to seeing your neurosurgeon will all the current data.

6

Thank you so much for telling me your story. It gives me hope!

Kat said:

Hi Alycia, I'm so sorry for your fear and pain! Being a mother myself I know how difficult it is to learn such a thing is happening to your darling child!! My daughter had some very scary diagnoses very early. It's not an easy thing to deal with. :(
I, myself, was diagnosed very young with chiari 1. I had headaches and mild sleep apnea too. The dr showed me the images (a bit later in my childhood) of my brain herniation. He in no way related it to my sleep apnea-this was more than 30 years ago. I recall seeing my herniation then and it was quite large. Why they didn't offer surgery is beyond me. Life for me went on normally. I always had crazy headaches but they weren't just chiari headaches so my NL swept the chiari diagnoses under the rug. Fast fwd 30 years. Suddenly I am a mom chasing around a 4 year old and my chiari decides to act up in force, drop attacks, constant nausea and dizziness, issues swallowing, waking up choking etc etc. I finally went back to a NL (I haven't had one since my mid teens as they never could help me) and she ordered an MRI expecting an aneurysm. It came back with a chiari diagnosis. My NL had no idea what that was but sent me to a NS to see if it could be fixed. I was decompressed this April and all chiari symptoms are gone! I guess the point to my long (sorry)story is that many people can live with chiari for most of their lives and be totally happy/active lives. If I were you I would definitely get a second and third opinion before surgery. If all the surgeons say wait and see, you go with your gut tells you-not the scared anxious mommy top layer, but what YOU really feel is wrong and or needed. We are mothers, we KNOW our kids.
I should add that I was a ballerina who had the opportunity to be a professional but turned it down for school, high school track star and played every sport imaginable as a child and teen all this with a huge herniation. That said, every child and chiari is very different and as I said before-No One knows your child like you do. I'm not sure if this rambling post helped at all -my daughter is pounding on me with dolls the entire time asking me to "be her, be her!!" why did I have only one child?! So I'm more than a little distracted writing this. :)
Again, I'm very sorry you are going through this with your child. The poor thing. Good luck, and congrats on twins!! That is awesome and a true job!
7

Can I ask how many millimeters your herniation was?