Dystonia affecting vocal cords/breathing

rainbow08

Hi, my daughter has recently been diagnosed with dystonia which is affecting her vocal cords. She is 8 months old (4 months corrected).
She is currently in hospital and has been since birth (long backstory). 
This issue with her vocal cords is what is keeping her in hospital. She has suffered from severe apneas causing her oxygen levels to drop dangerously low since birth. She often needs stimulation and/or bag and mask to wake her up from these apneas. This happens multiple times a day/night.
We have been told these apneas are due to her vocal cords clamping shut and obstructing her airway. 
We have tried some different medications to control the dystonia but nothing seems to be making a huge difference at the moment. There aren't many options left.
My husband and I have done so much research into this condition but cannot seem to find anyone who has been through something similar. Most of the information we can find relates to vocal cord dystonia affecting speech not breathing.
I was wondering if anyone has experienced a problem with dystonia affecting vocal cords/breathing?

Thanks

chiarieds

Hi @rainbow08 - & welcome to the community. I just wanted to reach out as my youngest daughter also had difficuty with her vocal cords. She had a congenital laryngeal web which was dilated, but the inspiratory stridor she'd had from birth continued.

I think you're likely finding out more about the adult onset of laryngeal dystonia (usually the adductor type) as there's comparatively very little written about those such as your little baby girl.

As you've probably read, basically there are abductor muscles that move the vocal cords away from the midline as you breathe in, & their opposites are the adductor muscles that move the vocal cords to the midline to allow speech.

I do appreciate what you're both going through, as there's nothing more distressing than seeing your little one having difficulty breathing. I'm here if you ever want to chat. My best wishes to your family.

rainbow08

Thanks @chiarieds

We only found out about our daughter's vocal cord problem after a sleep study showed obstructive apneas and she had a laryngoscopy and bronchoscopy to see what was causing the obstruction. We were told this showed paralysed vocal cords caused by dystonia attacks.
She can have over 50 apneas on a bad day needing intervention because of this.

You're right, all the information I see relates to adult laryngeal dystonia. 
Hope you don't mind me asking if you find anything that helped your daughter with the inspiratory stridor? I often wonder if my baby suffers with this too.
I have read a lot about Botox injections helping, but again that all relates to adults. 
We have queried whether a tracheostomy would help to eliminate the apnea attacks but the doctors have said this would create lots of other problems (frequent infections, discomfort, suctioning etc).

My daughter suffered HIE at birth so has brain damage. The doctors believe the brain damage is what causes the dystonia.


Thank you

chiarieds

Yes, my little one also had laryngoscopies; 3 in all initially. At first we were told one of her vocal cords was a 'bit tight,' then that this vocal cord was paralysed. She had had a tracheotomy at one week old, as her breathing problems were so severe (one lung had also collapsed at birth, a spontaneous pneumothorax, but was successfully reinflated). We were just so lucky that a neonatal paediatrician was one of the flying squad that came out to take her to the regional neonatal unit altho she wasn't premature.

Yes, botox injections does relate to adults.

About tracheostomies; I had an advantage 'in theory' as I'd been a physio. However, altho I trained in a large city hospital, the one thing it didn't have was a Chest ward, & I'd only ever seen one adult being suctioned! 

You'd both need to learn how to safely suction her. We always changed her tube together to minimise any distress. I did of course have nights when she got a cold, & I was with her suctioning her throughout. When we took her to Gt. Ormond St Hospital (where she was on a ward with other children with traches) they were amazed she'd never had to be admitted to hospital with an infection. This all does have to be borne in mind. I don't know what things are like now, but we'd been told most infants that have traches are in hospital for 3 months so their parents learn how to do this. We were discharged after 3 weeks, but my circumstances are a little unusual. 

The first night after she'd had her trache, a nurse was in charge, & it was her first night back after a really bad traffic accident, which had necessitated her having a trache (since removed), so I couldn't have had a better person in understanding it all, & she helped me so much.

Like yourselves, I researched, & thought that both her vocal cords were paralysed, which was later confirmed by her ENT specialist at Gt Ormond St with another laryngoscopy (i.e.bilateral abductor vocal cord paralysis).

I'm so sorry your little girl suffered HIE, so the resulting brain damage will be something her specialists will be taking into consideration when giving advice about her. We were fortunate that altho lack of oxygen was a big concern with what our little one had gone through, she didn't have any resulting problems.

Again I'm going back a bit, but at Gt Ormond St they were able to take a graft from her ribs, & splint her vocal cords open, hoping to then remove her trache altogether when she was 23 months old. I'm sure things will have moved on since then, but thought I'd mention it. 

She was the most amazing little girl, & having a trache didn't stop her; it was a privilege to have known her & loved her, & because of her I researched years later & have hopefully helped some others. Her problems were not the same as your little girl's, but I have a great deal of understanding.

Edit: I've got to say this (from my personal knowledge & research) if both your daughter's vocal cords are indeed paralysed, then has she had a MRI, or even a CAT scan to rule out Chiari 1 Malformation, which is the commonest cause of bilateral abductor vocal cord paralysis in a baby? I don't believe dystonia can cause paralysis.

rainbow08

@chiarieds thank you for sharing this information with me.
Your daughter sounds amazing and I can only imagine how proud you were of her.
I'm sure you're experience and research has helped  so many others, including myself.

We feel a tracheostomy is still an option for our baby if the current medications don't work. We know it will be a lot of work but we're willing to do whatever it takes to get our girl home safely. I am in the hospital right now and there is a 2 week old baby in the next bay with a trache and the parents were being taught suctioning today.
It's good to know it isn't always as bad as they make it out to be.

Your daughter's procedure at Great Ormond St is very interesting. I have been looking into if anything similar could be done to my daughter vocal cords. I hope so, although I don't see it being an option in the current hospital she is in (Noah's Ark children's hospital Cardiff).

With regards to my daughter's HIE, it wasn't something we found out she had until 5 months after she was born when she had a brain MRI. It did come as a shock even to the consultants as she was being investigated for seizures but they were ruled out but the HIE was discovered.

Thanks again for your message. You are the first person who seems to have any understanding/experience of what our baby is going through ❤️

chiarieds

Also wondered how you could bring your little girl home safely without a trache, tho perhaps sometimes moving one vocal cord away from the midline might work, as well as the posterior rib graft that our little one had to splint her vocal cords open.

Please do keep on researching, & asking those important questions. You need to search for terms you wouldn't know such as 'vocal fold paralysis/paresis,' (often it's mentioned as 'fold' rather than cords) which isn't a term that normally springs to mind! Also search for 'arytenoidectomy.'

Also consider asking for a 2nd opinion, depending on how you feel about your little girl's specialists. I wrote to the ENT specialist at Gt Ormond St asking if he would see our daughter; he said he would so long as she was referred to him. Our daughter's neonatal paediatrician, whom I couldn't fault (once he realised I was researching, when our little one was a year old, he even used to ring me up 2 or 3 times a week in the evenings to discuss what we'd each found out), was pleased to refer her with a very explanatory letter detailing her problems since birth & the investigations she'd had.

Kindly stay in touch. I honestly would question 'dystonia.'

rainbow08

We have been in the same situation for months and not gotten anywhere. She has these frequent apneas and desats which is caused by apparent "vocal cord dystonia".
This was diagnosed from the laryngoscopy seeing the vocal cords closed. I do wonder how they can be certain every single "episode" is related to this based on them seeing it happen only once.
She is on lots of medication for dystonia which has barely had an effect of the episodes she's had, it just makes her sleepy. We can't bring her home until she stops having the episodes as it's too unsafe, she has been in hospital her whole life.

I personally feel a trache would help so much. 

Thanks for the advice, I have been contemplating getting a second opinion but wasn't sure where to even begin with asking for one.
I will definitely keep researching and push for a second opinion.

I'll be sure to keep on touch with any updates. Thanks again 

chiarieds

Thank you too; I just want the best for your daughter. A good specialist will not worry about you asking for a 2nd opinion is all I can say.

Try searching for neonatal vocal cord dystonia, or, as I have done just vocal cord dystonia, laryngeal dystonia, focal dystonia, vocal cord dysfunction, etc. Look here: https://pubmed.ncbi.nlm.nih.gov/ not much said about this ....

Then search for 'bilateral vocal cord/fold paralysis,' which I'm not saying she has. Keep your options open, & keep talking to her specialists.