Answers from our Ask the Expert Series are in! A big thank you to Dr. Sawnani for his continued support of our community. A comprehensive list of the questions followed by the answer are listed below. 1. How soon after diagnosis should a child be referred to a pulmonologist? Answer - Care should be established with a pulmonologist once the diagnosis has been established. This is most helpful to initiate early evaluation, assessments, pulmonary function test training, and allows for defining of a trajectory for the change of lung function in the future. 2. We have a 3 year old with UCMD. We have our first appointment with a respirologist. What tests should we expect or ask to be performed to get her a good baseline reading on her first visit? Answer - It has been our experience that such young children have difficulties performing pulmonary function tests. Regardless, assessments of the chest with specific attention to range of movements of the chest and spine stiffness are important. I find that subsequent visits then to provide more information on the rate and degree of change observable. Depending on muscle strength, early testing with sleep studies may also be indicated early on. This is especially true for children who are extremely weak, have frequent episodes of waking up at night, and have an impaired cough. 3. I’m looking for a good L-CMD pulmonologist near Tampa as I’m moving next summer. My 9 year old son is breathing well without ventilation in the daytime. For night breathing, what kind of studies should I ask for to make sure that my kid is breathing well? Answer - Well, I am glad that he is doing well. In order to assess breathing at night, diagnostic sleep studies are obtained periodically. It is important to ask for the sleep lab to have the ability to measure end-tidal CO2 (carbon dioxide level during exhalation) in sleep. It is also helpful for the study to be interpreted by a pulmonologist with training in/exposure to neuromuscular medicine as signs of sleep disorder breathing in sleep are variable with neuromuscular disease. 4.My daughter has an unknown type of CMD. She uses a ventilator at night and in times of illness. She is treated for several allergies with Zyrtec and Singulair. Periodically, seemingly out of nowhere, her level of secretions becomes so high she feels she cannot breathe. The extra mucous is only in her lungs, not coming from her nasal passage. It comes on very fast and the only thing to help her is the ventilator. Usually, after 30 minutes on the vent, she is fine. Albuterol gives her no relief. Does this sound like a simple allergic reaction? Answer - I am curious by this presentation. At this time, one can attribute the sudden onset of symptoms to either reflux/heart burn, or, 2 dramatic changes in barometric pressure. In case of the latter, symptoms are usually preceded by very windy days, early weather changes prior to storms, or any such situation by the barometric pressure drops rather quickly. Ventilator pressures are set about barometric pressures. As a result, changes in barometric pressure can precipitate drops in PEEP and consequent onset of lower airway congestion and increased secretions in children with tracheostomies. Mechanisms for this are complex to explain. If she does not have a tracheostomy, then it is likely due to reflux. It is unlikely due to allergies, as the remedying measure appears to be ventilator support and not additional allergy medications. Lastly, my additional concern would be: Is her ventilatory support adequate? 5. During winter months, do you recommend using xopendex twice a day followed by vest and cough assist in MDC1A patients? Answer - We don’t typically recommend prophylactic asthma medications; only if there are symptoms of cough and wheezing. Further, the use of the vest may be recommended only if there are excessive secretions accumulating in the further and less central portions of the lung. These patients don’t have abnormal mucous production as in the case of cystic fibrosis. They produce normal amounts of mucus, but had inability to clear excessive mucus production in the presence of sickness. So in short, I do not typically recommend such therapies without symptoms as I try to take into consideration the burden placed of additional therapies with limited or no obvious benefits. 6. What are your thoughts on medications like Q-Var as a preventative daily treatment? Our pulmonologist has us doing 2 puffs at night when our SATS are fine and we are well. Another pulmonologist has said that this is not necessary for us and that we should not be on steroids long term. I worry about using this medication daily if it is not needed. Thoughts? Answer - Qvar is a fantastic inhaled corticosteroid for the management of childhood asthma. If your child does not have asthma as a coexisting problem, then that is little need to consider the use of inhaled steroids. There is no existing inflammation in the lining of the airways that would typically benefit from the use of an inhaled steroid in CMD. The pulmonary defects in asthma are “obstructive” (airflow obstruction due to narrowing of airways); the pulmonary defects in CMD are “restrictive” (limitation of maximal chest wall excursion with maximal inhalation) with mostly normal lung tissue. So in short, either recommendation may be right; it depends on whether or not that is coexisting asthma. The recommendation is also based on the interpretation of lung function. Lung function testing should determine the need for such additional therapies. 7. We use the IPV and cough assist for our son’s daily treatments. We have been told by some that we need to take breaks when using the IPV and others that we need to keep a seal for the entire treatment. Our son has an undiagnosed form of CMD. He seems to get irritated with the IPV after a minute of having the mask on. Are there any risks of wearing him out too much by not taking breaks on IPV? Please let us know your thoughts. Answer - It is interesting that you are able to obtain IPV at home. It has been challenging for us to prescribe this successfully for home use largely due to insurance regulation and difficulties in home health company setting this up. IPV treatments can take up to 30 minutes. We have children with tracheostomies and ventilators that tolerate the entire length of treatment as it practically provides some sort of mechanical ventilatory support. The reason not to tolerate this may be largely sensory, with poor tolerance to the percussive effect of the machine. Further, we tend to use this therapy in patients who have persistent collapse of certain regions of the lung. More typically, we tend to use the cough assist machine. 8. What are your thoughts on the benefits of hyperinsufflation using alpha 200 vs. daily cough assist? Answer - Intermittent positive pressure breathing (IPPB) is used to increase lung volume and to enhance coughing. Alpha 200 is a specific IPPB device. CoughAssist (Respironics) is a mechanical insufflator-exsufflator used to remove secretions in patients with inefficient cough. The alpha 200 is available in Europe, but the CoughAssist is available to us here in the US. Personally, I often recommend hyperinflation on a daily basis. When sick, I recommend the additional use of CoughAssist machine in the cough assist mode. With the prior version of the cough assist machine, I would issue a handout to the family on what settings to change to accomplish hyperinflation therapy. It is easier to set different presets for families on the new version of the machine, removing the need to manually change settings. The alpha 200 appears to be able to deliver greater volumes for the same pressure than the CoughAssist machine. 9. Do you recommend daily use of the vest (for LAMA2 patients) followed immediately by cough assist? Answer - If you do have it, then you are correct in that the vest therapy precedes CoughAssist therapy. The vest allows for loosening up of secretions from the further regions of the lung with the goal of moving them closer to the central airways. The CoughAssist machine then facilitates clearing of the secretions. 10. Do you find the vest useful for other forms of CMD? Answer - I do not typically prescribe the vest for my patients. The vest is certainly more popularized due to its use in cystic fibrosis which occurs with a much higher frequency than CMD. As a result, there are more care providers familiar with the existence and use of the vest then for the CoughAssist machine. I don’t typically find the vest very useful unless that is persistent or severe amount of mucous plugging in the peripheral regions of the lung. If the chest x-ray is clear off any collapse or mucus plugging, then the use of the CoughAssist machine should be adequate. 11. Other than BiPap and cough assist, is there anything else that we can do to prevent respiratory decline in our children with CMD? Our 4 year old daughter has suspected SEPN. Very reliant on back up vent during REM. Had SAT’s in 50’s and CO2 55 was found during a sleep study. No symptoms. Answer - If you daughter exhibits elevated CO2 levels while awake, or is breathing rapidly and shallowly to maintain normal CO2 levels, then there may be value in considering daytime sip ventilatory support (often called sip and puff ventilation). If not, then our current support systems are limited to the use of BiPAP and CoughAssist machines. There is limited anecdotal evidence on the use of hyperinflation therapies to limit decline of lung function. The Cure CMD Foundation and NIH have together funded a pilot study wherein we are testing this hypothesis in Col6 CMD patients. 12. In muscle eye brain disease, is there any benefit to do doing cough assist or any other treatments or any other treatments when not sick with an infection and when they haven’t showed any other signs of respiratory problems other than signs of low reserve on a sleep study? Answer - Personally, I often recommend hyperinflation on a daily basis when well using the CoughAssist machine. When sick, I recommend the additional use of CoughAssist machine in the cough assist mode followed by its use in the hyperinflation mode. With the prior version of the cough assist machine, I would issue a handout to the family on what settings to change to accomplish hyperinflation therapy. It is easier to set different presets for families on the new version of the machine, removing the need to manually change settings. As far as sleep studies are concerned, I think to recommend therapies if I am certain that there are subclinical changes in breathing in sleep. This is where use data from serial sleep studies are helpful as it becomes possible to define changes from one to the next. The absence of abnormality in the study is a more compelling reason to restudy the individual in 6-12 months if that is a high level of suspicion. 13. What factors are used to determine when to trach. I have an 8 year old with nemaline myopathy. Shortness of breath is increasing, spirometry between 40-50%. BiPap all night and a few times throughout the day. How else can I measure her to determine if we are at that point? Answer - For any family, a tracheostomy is a very large step. For some, it adds to quality of life and for others, it detracts. As far as her function is concerned, I would argue for optimizing her nighttime BiPAP settings. Further, I will recommend the use of a sip and puff ventilator in the day to improve their ventilation, and their sense of well-being. I find it unusual that daytime symptoms are that significant with the current lung function and feel that they may be removed to optimize her nighttime BiPAP pressures. There are no clear guidelines as to when to recommend a tracheostomy although lower lung functions certainly argue for such a step that is the desire and motivation to see this through. I have numerous boys with DMD that had lung functions under 25% and successfully use a sip and puff ventilator for many years without recurrent respiratory illnesses.
Posted on: Sun, 25 Jan 2015 02:51:49 +0000
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