Oxygen Caution with Pompe patients
There are many references warning about use of supplemental Oxygen (Oxygen given without use of assisted/mechanical ventilation) in individuals living with neuromuscular disease (NMD) who have weakened breathing muscles. Sadly, many individuals and some health care providers are not aware of this risk, and this can lead to significant worsening of the individual’s symptoms. In extreme cases, it can cause death.
Respiratory Care Information
Normal Partial Pressure of Carbon Dioxide (PC02) and
End Tidal Carbon Dioxide (CO2): 35-45 mmHg
Normal Oxygen Saturation (Sa02): 95 – 100%
Important: High Flow Oxygen may shut down my breathing
Do not give me oxygen before checking end tidal or blood C02 levels. A low oxyhaemoglobin saturation may indicate C02 retention and need positive pressure ventilation.
If supplemental oxygen is given continuously monitor C02 levels. Non invasive bi-level ventilation may be required.
Mechanical cough assist may be needed to clear mucus.
How can supplemental Oxygen be dangerous?
There are two parts of respiration: the mechanics of breathing and the exchange of Oxygen (O2) for Carbon Dioxide (CO2). When inhaling air, the diaphragm and intercostal muscles contract, the diaphragm moves down, and the ribs move up. This creates space within the chest, and air rushes in to fill this space (Oxygen). When the air rushes in, the air goes to the lungs where this Oxygen (O2) is exchanged for Carbon Dioxide (CO2). Oxygen then passes into the blood and travels into the haemoglobin to the cells. The muscles of the chest relax and the air, now filled with CO2, is pushed out of the body. Breathing happens automatically, and it is regulated by the respiratory centre in the brainstem. When the body has too much CO2 or not enough O2, the brainstem triggers breathing.
In those who live with NMD, a weak diaphragm does not move up and down well, and weak intercostal muscles do not expand the ribs well. And as the disease progresses, it becomes difficult to cough and to take deep breaths. Shallow breathing can provide the body with adequate oxygen supply and adequate removal of carbon dioxide. That delicate balance of O2 and CO2 allows breathing to continue. It is when extra or supplemental Oxygen is given while the individual has no assistance with air moving into and out of the lungs (is using no mechanical ventilation), that this balance can be disturbed. In the process, the respiratory centre in the brainstem may get the false impression that the body has enough O2 and no longer needs to breathe. Without breathing, CO2 can build to dangerous levels (called hypercapnia) that can result in death.
Safe Administration of Supplemental Oxygen
There are ways of giving supplemental Oxygen and monitoring Carbon Dioxide safely. First, Oxygen should NEVER be given without constantly monitoring the level of Carbon Dioxide in the expired breath (the “end-tidal CO2”), which can be done by use of a device called a capnograph or by determining the CO2 level in blood which can be done by an Arterial Blood Gas (ABG) sample. A normal end tidal CO2 is between 30-45 mmHg. A CO2 level of more than 45 mmHg is too high and an indication that CO2 is not being expelled from the body. This causes Haemoglobin in the blood to become saturated with Oxygen that the blood takes to the body. If the Haemoglobin is tested and is found to not be saturated with Oxygen, that too can be an indication that there is too much CO2 in the body and that not enough Oxygen is getting into the blood. Non-invasive bi-level ventilation (i.e. BiPAP, BPAP, or portable ventilator) will assist with the mechanical process of breathing, delivery of O2, and removal of CO2.
The biggest problem at an accident and emergency department may not be the one you go in with, but the one you encounter there
When a medical emergency strikes — and the patient is a person with a neuromuscular disease such as Pompe — it’s not just getting to A & E quickly that’s critical. It’s also critical to ensure the ER staff understands the patient’s special needs caused by muscle disease.
“Most ER doctors will NOT understand these diseases, “Because of that, a respiratory patient can end up with an unwanted tracheostomy when an ER doctor pushes for aggressive care.
Respiratory problems are the top reason that people with neuromuscular diseases go to A & E, says Carter.
But the biggest danger at the hospital may not be the problem you go in with, but the problem you get there. Individuals in respiratory distress may be given supplemental oxygen, even though their problem is not caused by lack of oxygen but by weak respiratory muscles. Too much unnecessary oxygen can cause a potentially life-threatening suppression of breathing.
In addition, certain muscle diseases like Pompe disease can cause a dangerous reaction to anaesthesia called malignant hyperthermia.
Some neuromuscular disease symptoms can lead to serious misunderstandings in the A & E. The best strategy for going to the hospital is to be prepared before the emergency strikes.
Provide updated and complete medical information
The distinctive MedicAlert bracelets, necklaces or Pompe Wales key chains spell out diagnosis and allergies, and provide a phone number for accessing more detailed information like medication lists and personal physicians.
Buddy up: Take an advocate to the hospital
Even when ER patients can talk for themselves, it helps to have someone else there — a spouse, parent or friend — to remind medical staff that the patient has muscular dystrophy, e.g. no, they can’t get up on the bed by herself; no, they can’t lie flat, they have contractures; and so on. And a buddy can push the nurse call button if the patient can’t.
Advance directives speak for you
There is a document you must prepare if you want to be sure your wishes are followed in a life-or-death situation. Advance directives are available online free at Pompe Wales, https://pompewales.com/advanced-care-planner/ but be sure to get one that’s recognized in your state. They contain several parts:
- a medical power of attorney, designating the person (and possible backups) who can make medical decisions if you’re unable to speak for yourself;
- specifications about how much (if any) life support you want, the level of pain management you want; and whether you want to donate some or all of your body; and
- the name and contact information of the physician you want to handle your medical care.
Pompe Disease 