Recent content by Gylnx

Yes bipap was given but due to almost no respiratory muscle strength was prescribed vent with active circuit. Thanks for info on the EMG finding. I foolishly only did ncv 6 years ago thinking it was EMG.

Hey.. these mutations are new. NIH is going to submit for undiagnosed case as it’s autosomal dominant motor neuron disease

My respiratory therapist ordered it for me. It’s Rx only Astral single limb circuit smooth bore 15 mm ResMed 21312

Hi, my trilogy was recalled and got astral 150 (I have high out of pocket insurance). How much is the circuit and how often do I have to replace it? Also where can I buy it? I see a respiratory therapist who can perform maintenance but he doesn’t know where to buy it.

Met with Pulmonologist /thoracic surgeon on diaphragm weakness. They referred me to ALS clinic as the MIP value is very low. Not sure what type of EMG can diagnose this as I have no peripheral muscle issues except respiratory muscle

Based on the genetic testing and drop in FVC in supine position, I was diagnosed with diaphragm weakness due to hereditary motor neuron disease (likely SMA-4) . The Dr. ordered non invasive ventilator to be used at night but assured that this will not decline fast and pulmonary symptoms will...

It turned out invitae uses an older genome model hg37 and nebula uses hg38, leading to discrepancies. I have requested the variant list for appointment with neurology as the MIP 40 and MEP 80 cutoff points do indicate neuromuscular weakness according to the new pulmonologist at MDA clinic. The...

The new Pulmonary rehab specialist is also a neurologist and he is prescribing NVS as cpap or bipap is not suitable for respiratory muscle weakness. I am glad that I looked for a second opinion as the breathlessness was becoming difficult to recover from every morning.

Just for update, local ALS clinic was able to help with this and ordered supine spirometry since MIP is very low and may indicate diaphragm weakness due to another type of neuromuscular issue.

Thanks for this information. I set up a new appt with pulmonologist.

Hi, I saw a pulmonologist due to inability to inhale fully like before. MIP was 34 and MEP was 80. I had restricted pattern in PFT and have mostly right sided stiffness with cervical stenosis. I was wondering other than myopathy or neuromuscular disease that can be diagnosed, is there an...

I agree. What is irresponsible on their part is that they are identifying mutation as pathogenic where the mutation is actually benign, and in some cases the mutations were not identified correctly. The polygenic score is unproven and is based on small number of samples.

DYNC1H1 was negative in invitae testing. Genetic counselor wanted to see raw data to compare to nebula. So far it seems though they may be inaccurate and the polygenic risk score they show may be non-sensical. If anyone has else has a nebula report for these, I would like to compare and see...

I talked to genetic counselor at genome medical but they are not sure how to interpret it. There seems to be KIF5A related SNPs that are mentioned in the attached article. Thankfully no one in the family showing any symptoms other than BFS. My neurologist thought I had Parkinson’s but it was...

I am not sure if anyone has used nebula for full exome sequencing. They put polygenic score for Parkinson’s and ALS for me at 100 percentile and incidentally I found a possible pathogenic mutation in Dync1h1 gene. I would suggest staying away from the polygenic score as it does not predict...