Respiratory Onset ALS

[DaisyDelilah]

Hi - is there anyone out there that has been diagnosed with bilateral diaphragm paralysis due to ALS onset??

My husband was diagnosed with Respiratory Onset ALS in March following 7+ months of worsening symptoms. He returned from a visit to his mother for 10 days having lost 5kg and with voice change and reflux. I tried to get him to see a gp as I knew straight away there was something v wrong, after over 40 yrs of marriage you know when your spouse is really ill. He found it difficult to eat more than small amounts at a time because of the reflux. He described it as 'squirting'. With hindsight I now feel his diaphragm was already failing at that point. I finally persuaded him to the gp in Nov. He was referred to ENT who checked his vocal cords, said they were fine and that your voice changes as you get older (not in a fortnight I thought!) but she said she would refer him to a Speech and Language Therapist. That appt was early Dec but by then he was experiencing breathlessness, problems lying down to sleep. I tried to get him to go back to the gp but unfortunately his mother became v ill just before christmas. We live hundreds of miles away and due to problems with weather, airport strike etc he could only get down just after christmas. His mother died just after New Year. After another trip to sort will / house etc he was looking and sounding dreadful, breathing was becoming more of a problem and only getting 1.5 hrs sleep at a time, needing to get up because of headaches and inability to breathe lying down or semi recumbent.

He eventually saw the gp again at the end of January. An 'urgent' chest x ray was ordered, happened 2 wks later..nothing seen to explain his breathlessness. By then we had been thinking everything from lung cancer with metastases to stomach cancer and something pressing on the diaphragm, diaphragmatic hernia etc. We suddenly realised everything pointed to diaphragm dysfunction. The gp referred him for a gastroscopy. Having read various papers we realised his decline was due to bilateral paralysis of the diaphragm which cannot be seen on standing chest x ray, can only be seen on supine chest x ray. My husband had a standing chest x ray. He tried to explain that he could not lie down for a gastroscopy but neither hospital nor surgery were listening. One of the papers said peak flows would indicate decline in such paralysis so my husband checked his. Previously 700 standing / sitting. This was now 300. Lying on his sides, 203 both sides and 90 when attempted lying down. For us this confirmed it.

His second visit with the S + L therapist was v useful. She discharged him and said she was contacting his gp as she could see 'something else' was going on and she contacted the gp to say she thought it was MND. He was offered an appt 2 wks from then....I took him to A + E as he would not have lasted that long. He was admitted and the consultant stated yes, bilateral paralysis of diaphragm, likely to be phrenic nerve palsies due to MND. He was put on a CPAP machine and had 8 hrs sleep for the first time in mths. Initial blood gas samples were unobtainable but once achieved showed hypercapnia. By sheer good luck, a visiting radiologist was in the hospital who had the skills to do an ultrasound of his diaphragm. This was done and showed bilateral paralysis of the diaphragm.

Since then my husband was sent to the large hospital on the mainland and put on an niv which he claims to be his new best friend. He uses it every night for 8-10 hrs. Initially the neuro consultant he was referred to said he was over 90% certain it was MND. Nerve conduction studies were equivocal so the consultant checked out every other condition it could have been over the last 6 months. Finally nerve conduction studies were repeated a couple of weeks ago and unequivocally showed MND. So far he has thinning by his thumbs, lost his ' pinch', still has spasms and cramps in his legs, intermittent peripheral vasoconstriction in his hands/ arms and feet/ lower legs. He has been told he is too poor a candidate for a PEG.

What I am wanting to know is, is this presentation of MND likely to go on to affect his limbs in the way people presenting with limb symptoms first experience? There are so few papers on Respiratory Onset as it is so rare...currently he is experiencing tongue irritation at the back when trying to eat solids and is mostly on liquids with things like v soft scrambled eggs. We are waiting on yet another dieticians appt for help maintaining his nutrition... cannot get anyone on his MDT to explain what progression other than respiratory failure to expect.....

 

[ShiftKicker]

Welcome to the forums, Daisy. I am so sorry you find yourself here, but glad you've found us. It's a great support group and lots of experience to draw on. I am hoping someone here may be able to provide a bit more with regards to respiratory onset, but wanted to make sure you were welcomed and didn't think your post was lost.

~F

 

[Nikki J]

He should have bipap not cpap. Is that what you meant?

It sounds as if he has bulbar involvement as well as respiratory as speak of food consistency? And some limb involvement too?

Respiratory onset can indeed involve the limbs fully. I don’t know how to say this kindly but sometimes it doesn’t happen because the respiratory and or swallow issues take them first.

I am sorry they have refused a feeding tube. They can technically be done at very poor respiratory levels when using bipap and under radiographic guidance a rig procedure instead of peg but they may judge his respiratory progression too quick?

I hope you are getting good support. Generally services are better in the UK but they seem spotty these days I gather you live on an island as you refer to the mainland Do make contact with the mnda if you have not already done so

 

[lgelb]

I am sorry about the death of your MIL and your husband's rapid progression. However, we should recognize that respiratory onset forms may seem to jump out of nowhere at the beginning because when you really need a machine to help you breathe and don't have one, there is just no substitute.

I would encourage your husband to use NIV as many hours as are more comfortable with than without it, and agree that getting a second opinion on the feeding tube is desirable. Especially since he is not as yet using NIV during the day, on the back of the envelope, he's still a good candidate for a feeding tube procedure in Radiology, though because it requires a position that can hamper breathing, using the machine during the procedure would be advised. Even if the prognosis is bleak, placement can potentially be justified on palliative grounds.

You might Google "RIG" and "UK" or wherever you could travel. As Nikki says, the Association may have some leads and suggestions as well.

Much better to live with the feeding tube for however long than to aspirate and choke or die by starvation.

 

[DaisyDelilah]

Hi, unfortunately at the moment of first admission he was in an island hospital that only had cpap machines and although bipap was the type of machine needed, at that moment in time the priority was to improve his gas exchange even a little and enable him to get a night's sleep before arranging transfer to the mainland hospital.

Sadly yes, I decided quite quickly from the mainland respiratory consultant response when he first saw my husband, that it is probable that his time is limited enough to mean he may not lose his limbs before his respiratory failure worsens. Already his abdominal muscles are weakening a lot and the left side trunk muscles...I am aware his intercostals could be next. Thank you for saying you too think the respiratory situation may be the end point. I just needed to know someone else thinks that too.

The local staff are mostly very helpful but I think none of them have experienced caring for someone with respiratory onset and wonder if the neuro and respiratory consultants have either. In the end respiratory failure care will be the same as end stage mnd but at the beginning there was too much emphasis on no absolute definite mnd diagnosis after nerve conduction studies were equivocal. No-one seemed to realise that regardless, his respiratory state and early swallowing problems and head drop meant speedy help with a collar and OT assistance with a raised eating surface plus a wheelchair for when his breathing was too poor to enable him to walk far, was a priority.

We have got past that now and have a proper support collar instead of the soft useless thing he finally was given nearly a month after admission...and a friend sorted out his eating by extending a bed table she had to sit on our kitchen table....for the first few weeks back home he was eating from a plate on top of a 10litre plastic paint bucket on the kitchen table....we also now have a fabulous OT and a wheelchair etc.

I did contact mnd scotland to try and join the carers forum thing but was told effectively albeit politely to go away as no spaces and they were looking to set up another group so no help there....I was only wanting to ask what I asked here...

 

[DaisyDelilah]

Hi - unfortunately the neuro and respiratory consultants and surgeon are all of one mind, he is not suitable for a PEG. That hospital does not do RIGs nor post gastric tubes so my husband did ask at the last visit for the issue to be reconsidered and the neuro consultant agreed to speak with the other consultants in this issue it did not sound hopeful...we are waiting on a dietician appt for help with liquid feeds / supplements but that is still 8 days away...all v frustrating...my husband is not in a state where he can cope with long distance travel so we are unlikely even to go back to the mainland hospital if he has his way other than by air ambulance as the airport travel experience is just far too exhausting for him....

 

[DaisyDelilah]

Thank you

 

[oldgeek]

Yes, I have been told I have a paralyzed diaphragm and phrenic nerve. You might ask about a "sniff" test which is a great little test to see how much his diaphragm is working - or not working.

I was on NIV until it could no longer push in air and so I have a trach and am now on a vent 90% of the time. However, I loved my BiPap/NIV until it could no longer push enough air in. Now, I love my vents and trach since they help so much. One difference is that I have 60% vocal cord paralysis and so that's likely a contributor to why the BiPap no longer was strong enough to give me enough air and I had to get the trach and fully invasive ventilation.

My limbs are now weak too so I can't manage the vent while walking so I use a power chair to get around. Isn't the technology great?!

I've had four pulmonologists tell me I needed a feeding tube since lost a bunch of weight and continue to do so. However, when I told the surgeon I wasn't excited about the tube - he said that there was no hurry and to let him know when I'm ready.

One last thing, I was told to see a palliative care doctor which I did. She told me it was unlikely I'd live six months and that was six months ago and I'm still here. With all the technological help, I'm doing great and I don't feel at all like I'm at "death's door". But, I'm happy in my chair with my vent breathing through my trach and just let all the technology do the work. So my final point is that "attitude is everything" with this stuff. Good luck to both of you.

 

[DaisyDelilah]

Thank you so much for taking the time to answer me. Lots of food for thought. My husband has been told they will not do a trach on him when the vent is no longer working for him. Very interesting difference in attitude from our doctors. Are you in the UK?

 

[Doing My Best]

Daisy, just wanted to say my heart goes out to you, it sounds like it's been a really rough path so far and with a lot less support and guidance than you could have used. Sending hugs - and hoping you get some more useful assistance soon to maximize comfort and function as long as possible.

 

[DaisyDelilah]

Thank you....there are only ever very small numbers of people affected by MND where we live we gather, often only one or two at a time so obviously no local support groups so it has been very helpful to find this forum. Even though we both understand the likely progression for my husband, both of us having worked for the health service it still helps to have full information. We did explain quite clearly at the outset that we both cope better with full information, no holds barred etc there is an obvious reluctance apart mercifully from a local general consultant to give us the likely future changes. I have devoured as many papers as I can on MND and it's many variations and often find quite basic information like slowed gastric emptying which would be useful to know to be able to fine tune nutrition etc just never mentioned. But I have found you all now and know I can ask and get some answers....x

 

[oldgeek]

No Daisy, I'm in the US. I'm sorry your health team is not willing to do the trach. For me, it's extended my life and the quality of my life and I wish your husband could have the same benefit. My heart goes out to you both.

 

[DaisyDelilah]

Thank you

 

[monique92760]

If you don't mind, what was you're thought process when considering if you wanted a trach? Though I presented last April with "foot drop", every ALS patient seems to eventually progress to the upper body symptoms. My thoughts now are to deny a trach if I don't have use of all my limbs. But I know it's easy to say that now, when I'm not actually faced with the decision, but am wondering about how hard it is to refrain from getting one.

 

[Landis02]

Monique, I’m interested in answers to this, too. My PALS has lower limb ALS, but his respiratory numbers have drastically dropped over the last 2 months. His doc asked him recently to think about a trach.