The Management of Congenital Muscular Dystrophy ... - Cure CMD

More documents

Recommendations

Info

InterventionsSevere scoliosis can make it harder for the lungsto expand all the way and prevent a person fromtaking a “deep breath.” Your child may requirespinal bracing to slow the progression ofscoliosis and maintain improved postureduring daily activities. When bracing is used itis important to consider its effect not only on thescoliosis, but also on the child’s breathing. Eachbrace needs to be evaluated to make sure it doesnot have a potentially negative effect onbreathing function. Your child’s orthopedistand pulmonologist should work together toensure that the brace is supportive enough forthe spine and doesn’t worsen breathing function.To assist with difficulties with effective breathing,your child’s clinician may recommend theuse of supportive breathing equipment(noninvasive or ventilator equipment), whichhas been shown to improve gas exchange,decrease chest infections, and decrease thefrequency and duration of hospital stays.Noninvasive ventilation is most commonlyrecommended when there is evidence ofhypoventilation (weak breathing ability) or forany of the resulting signs and symptoms ofrespiration problems. Noninvasive ventilationtechniques are provided through a mask orother easily removable device.Bi-PAP (bilevel positive airway pressure) is acommonly used noninvasive ventilator usuallybegun for night-time support. It consists of asmall machine that pumps air through tubingconnected to an interface or mask that goes overyour child’s nose or mouth. Pressurized air thatsupports your child’s breath helps remove CO213when breathing out. A variety of interfaceoptions are available, based on your child’s age,skin condition, face shape, and ability to toleratethis intervention.Once your child begins to use noninvasive ventilation,he or she will need to undergo overnightmonitoring (sleep study), at least annually, toadjust ventilator settings and to check and adjustthe fit of the mask or other interface.Special care should be directed to the youngchild receiving long-term ventilation to helpaddress the potential complications of abnormalfacial development (midface hypoplasia). Theuse of individually fitted masks or alternatingbetween nasal pillows, nasal masks, and full facemasks may be helpful in preventing thiscomplication. Sip ventilation with a mouthpiecemay also be recommended for people whorequire breathing support during the day.Sometimes long-term mechanical ventilationmay need to be delivered via a surgically placedtube in the neck, called a tracheostomy tube.Indications for this include chronic aspirationwith repeated pneumonias or ineffectiveclearing of airway secretions despite the use ofassistive interventions. Some people also prefera tracheostomy tube if they require noninvasiveventilation for the majority of the day and night.Management of AcuteRespiratory IllnessRespiratory tract infections (common cold andpneumonia) are the most frequent cause ofhospital admissions and life-threateningsituations in individuals with CMD. When anacute respiratory infection is suspected, it isimportant to have your child evaluated, makingsure that you tell the clinician the type of CMDyour child has and what you know about thedisease course.Signs of acute respiratory distress can besubtle but may include:• paleness• increased sleepiness• decreased appetite• unusual movement of chest and belly
• fast heart rate or breathing rate• weak cough• increasing fatigue.Any of these signs deserve a careful evaluationbut if, in addition, the oxygen saturation is lessthan 94% or is lower than your child’s baseline,your child should be seen by his or her medicalprovider or evaluated in the emergencydepartment immediately.To evaluate the severity of your child’s illness,the clinician will perform a physical exam andlisten to your child’s chest. Other diagnosticmethods may include:• assessment of cough effectiveness• pulse oximetry and possible CO2measurement to evaluate breathingproblems• chest X-ray to identify pneumonia andcollapsed areas of lungs (comparisonwith previous films may be needed forthe most accurate evaluation)• sputum culture if your child is able toproduce mucus by coughing; this culturemay provide information about the typeof bacteria causing the pneumonia.Treatment of your child’s acute respiratoryinfection aims at maintaining stable breathingfunction.Antibiotics should be used in most respiratoryinfections to treat potential underlying bacterialpneumonia in CMD with ongoing monitoring ofrespiratory status if pneumonia is diagnosed.If your child’s oxygen saturation is low,supplemental O2 should be provided (sometimesthrough a nasal cannula or mask). However, itis important to note that if there is evidence ofCO2 retention it is more appropriate to provideventilator support rather than O2 alone.If there are signs of respiratory failure and yourchild is not yet using noninvasive ventilationsupport, this should be initiated. If your child isalready using breathing support, re-evaluation ofhis or her ventilator settings or an increase in thenumber of hours the child uses it may benecessary to stabilize your child’s breathingfunction. In more serious illnesses, intubationmay be required if noninvasive ventilation is nothelpful, your child is unable to clear secretions,or your child is losing the ability to protect his orher airway, increasing the risk of aspiration.Treatments to help mobilize your child’ssecretions should be intensified, including useof a cough machine, IPV, chest insufflations, andmanually assisting hie or her cough. Bronchodilatorsand chest percussion may also be used asrecommended by your pulmonologist.Ventilation only assists with the process of gasexchange; thus, these methods of airwayclearance are critical to recovery and shouldcontinue to be used even if the patient is onassisted ventilation.IMPORTANT FACTS TO REMEMBER1. Keep a general written descriptionof the subtype of CMD your childhas, if known, and a copy of thelatest breathing test (pulmonaryfunction test, forced vital capacity)to show the medical clincian in anemergency situation.2. Your child´s breathing functionneeds to be checked before anysurgery.3. Lower respiratory tract infectionsshould be treated aggressively withan aim to maintain a steady levelof adequate oxygenation and CO2levels. Most often, antibioticsshould be used to treat theinfection. If your child has chestmuscle weakness, additional helpwith coughing is essential.4. Symptoms of inadequate breathingfunction include paleness,sleepiness, decreased appetite orweight loss, abnormal breathingpattern, weak cough, repeated chestinfections/pneumonias, increasedfatigue, decreased concentrationability, and morning headache.Symptoms may initially be subtle.14
Page 6 and 7: Box 1CMD-LGMD Subtypes(abbreviation
Page 11 and 12: Hospital CareYour child may require
Page 13 and 14: 4 Respiratory ManagementCare of Bre
Page 15: Types of PulmonaryFunction Testing
Page 22 and 23: 6 Cardiac ManagementTaking Care of
Page 24: IMPORTANT FACTS TO REMEMBERBe aware
Page 27 and 28: Table 5Age of onset of orthopedic c
Page 29 and 30: Box 4ConsiderationsforSpinalSurgery
Page 31 and 32: family to plan meaningfully and eff
Page 33 and 34: Children with LAMA2-RD are born wit
Page 35 and 36: Neurologist:A physician who has spe
Page 37 and 38: Advocate:To work with your child’
Page 39 and 40: Genetic mutation:A change in a pers
Page 41 and 42: Positive airway pressure (PAP):A ty
Page 43: of CMD. It is important for people

The Management of Congenital Muscular Dystrophy ... - Cure CMD

You also want an ePaper? Increase the reach of your titles

Delete template?

Save as template?