Where to begin, after diagnosis:
(The information in this section is our family's opinion. Though FACTS might be here as links, I will guide you in where you start from the beginning if you choose to INTERVENE. Please know that every family with an SMA diagnosis is faced with many challenging decisions. Your decisions must be your personal family choices! There is lots of support for you no matter what your choice may be!)
Making the Choice
Intervention vs. Palliative Care
Palliative care is a route of less intervention. A route of avoiding extraordinary measures to prolong your child's life. Information can be found HERE.
Intervention is the route our family chose and where I will mainly focus in this section. There are tons of resources and other families who will always be there for help and support! Once your family has decided you will intervene to prolong your child's life, you can use this section to help guide you on the right path to assist your child as needed, and to prepare your family for the future. Keep your head up, learn what you can and enjoy every second with your baby! NO ONE can tell you how long your child, or any of us for that matter, will be here, so don't let a doctor, etc get you down with negativity, no hope, doom and gloom! SMA is a crappy disease without a doubt, but I enjoy every second I have with Carter, and as long as he shows me he's happy within himself...I'll always be right by his side to keep him as healthy as possible.
When you notice something's Not Right
A typical SMA child is born to what we think is a perfectly healthy child, though, some research says the baby may start to lose movement while still in the womb. Most cases, the child is born with normal movement and loses it at some point after. The time in which the child starts to show signs (usually loses leg movement first) is used to also configure what TYPE of SMA the child has. There are other factors also that determine what type, such as milestones that are not met, and results of the blood test confirming the SMN1 gene is missing and how many repeated copies of SMN2 are present. There are typically 3-4 types of SMA, Type 1 being most severe. Usually Type 1's show signs before the age of 6-10 months. Carter stopped moving his legs at 2 months old, and it was a very sudden loss leaving us questioning, "How did we miss this?"
Usually you will notice there is a loss in leg movement or maybe total loss. The legs will "froggy" out when lying. You may start to see loss of head control and they may become floppy, same for the arms, though, arm movement tends to be lost later on. Weakness is present but many type 1's have some arm movement. Some also can move the ankles and feet, especially when lifted in a way to free them of gravity or the surface they are lying on. Some children will also have tongue "fasciculations" where the tongue seems to "quiver."
When any of these things are noticed please get your child to the Pediatrician, whom in turn will most likely send you to a Neurologist. After the child is examined by the Neurologist, it may be suspected the child may have Spinal Muscular Atrophy and a blood test will be done to confirm the diagnosis. Typically this test takes about 3 weeks to return results. Your Neurologist will likely call you back in to give you these results. If confirmed, you should be given all the information you need: diagnosis explanation, choices, resources, and support. This is not always the case, nor are you always given the correct information, and its not always the most optimistic information either. Its okay though, there are so many resources and families to guide you! That's why I created this website, in hopes it aids with information, resources and support if you choose to move forward with the given diagnosis! In my opinion..their life is more than worth it :-)
What you need to do to prepare your child & family for disease progression:
Your first intervention needs to be preparation and education about this disease on YOUR END! Make sure you contact families, read, and learn, learn, learn!
1) THERAPY: Have your doctor write a script for Physical therapy (PT), Occupational therapy (OT), and Speech therapy (ST). Your child will need therapy. It will play a vital role in preventing painful stiffness, contractures, and the progression of the loss of movement at a possibly faster rate. Be sure when you settle on a therapy company, that you and your therapists are on the same page with the goals you want for your child. Your therapist needs to have a positive attitude and be optimistic with the goals for your family. I don't believe that a therapist should make the call that they cannot help you get the equipment your child needs because they possibly might have a short life and the money will have been wasted (yes families have been told these awful things!)
Remember.....There is no one who can make that call...but the man upstairs!
2) FEEDING: If your child is still eating by mouth with no problems, your doctor might say it's okay to continue feeding that way until problems start. It might be worth it to ask your Pediatrician for a "swallow study" to make sure your child's not silently aspirating but not showing you signs. This is possible, and you won't know until your child develops something such as pneumonia from the food having been aspirated into the lungs. A "swallow study" is a simple, non-painful test that you do under a live x-ray. Your child will sit in a special chair and you will feed them whether by spoon or bottle. The technician or therapist (usually a Speech Therapist) will actually add "Barium" to the food. Barium is like a white chalky substance that will show up on the live x-ray. Your child will eat/drink as its quickly recorded (usually only about 4 minutes worth of recorded video.) The therapist will be watching to see how effective the swallow is and if its actually going down to the stomach or down to the lungs. If he/she passes then feed until the moment you see signs. If he/she fails then you should discuss with your doctor if you want to either place a feeding tube into your child's nose that will go down into the stomach so you can feed that way, or if you choose to have surgery and place a GTube into the child's belly. The surgery is not that bad, and is a reversible surgery. It is usually done by a General Pediatric Surgeon or a Gastric Surgeon and is not a long surgery. It will be a tiny hole into the belly area that a tube is inserted into the child's stomach. (Some look like the part of a floatie that you blow in to inflate a floatie.)
3) AFO's: Have your occupational or physical therapist look at your childs feet. They will start to curl down and inward and will need to be molded for AFO's (Ankle-Foot Orthotics) They are just boots specially molded to your child's feet to help keep the ankle bend (Shoe position) and so on. You usually can pick a color and design from their pattern options to make them fun. They will wear socks with the boots as they are made of a hard material. Some AFO's fit into regular shoes. I'm told to just buy a size larger so the AFO's will fit. Some kids sleep in theirs, others wear them off and on. The Orthotist that molds them will usually give a recommendation.
4) BREATHING: Usually the childs respiratory status will start to change after you have already seen loss of movement, possibly feeding, etc. Many SMA kids will need respiratory support starting when they sleep. Later on it seems to progress to maybe an awake and asleep need. Perhaps you should be PREPARED for this progression by having already talked with a Pulmonologist and maybe having a ventilator and bipap masks ready so you can place your child on respiratory support to aid their breathing difficulties. You might have to do this in the hospital so that the ventilator settings may be perfected and have the respiratory therapists find a mask that fits your child's face with minimal leaks. These are all very important factors in successfully ventilating your child. Settings may be an issue depending on your location and the willingness and knowledge of SMA on the hospital staffs end. It has been an issue of under-ventilation for many families. Typically an SMA patient does NOT have stiff lungs and usually requires a bit of higher ventilation. If on BiPap, there's typically a span of 10 between what is set as the IPAP and EPAP. The PEEP is typically about 5. (PEEP is the amount of air that is left in the lungs when exhaling so as not to exhale all of the air out of the lungs). Tidal volume in SMA is usually around 8-10cmH2O per Kilogram of weight. (ex. If Carter weighs about 20 lbs...you divide 20 by 2.2 to convert it to kilograms. This will give you about 9, so his weight is about 9 kilos. Since, in SMA, you typically ventilate at about 10 per kilo, Carter's Tidal Volume should at least be 90. Tidal volume is the amount of air going into the lungs. Many doctors do not like to do 10 per kilo, saying you can cause a pneumothorax (blow a hole in the lung by over-ventilating) whereas this is not totally true, therefore causing many physicians to under-ventilate an SMA patient! All of this information is referenced by Dr. Mary Schroth (a leading SMA Pulmonologist) on my other pages. Yes, it is possible to blow a hole in a lung if over-ventilated but unlikely and even harder to do while using Bipap via face mask instead of a tracheostomy (trach). Rate is another very important ventilation factor. If your rate (breaths per minute) usually set on the ventilator....is set too low you can retain carbon dioxide(CO2) and this will also cause the SMA patient to work much harder to breathe than necessary. It's said that a good rate especially if the child is sick, would be to watch how many breaths they are taking on their own and pretty much match it. So if they are taking about 30 breaths then set the vent Rate at 30 so that you allow them to rest and use their minimal energy and muscles to heal. The CO2 levels should be monitored, typically with a "blood gas" which is a simple blood draw, or finger/toe prick. Normal CO2 levels should stay somewhere between 35-45, that would be ideal. (Textbook would say 7.4 and 40) These are two different numbers; a CO2 monitor will read you the 40 number, whereas blood work will give you both numbers.
5) OXYGEN: SMA patients should not need constant oxygen (O2)!!!!! This CANNOT be stressed enough! The biggest mistake made in SMA is to get diagnosed and a doctor send you home with oxygen and a nasal cannula and you keep your child on oxygen all day because if you remove it their Sats (oxygen levels) drop. This means your child NEEDS VENTILATION.... NOT OXYGEN! You can keep oxygen around at all times as a "pick me up" or assist when very sick, desatting from cough machine and suctioning, etc but then TAKE IT OFF! Your child should be able to maintain Sats 95 or greater on room air (21% oxygen). That's what we breathe. If their heart rate is higher, respiratory rate is higher (respiratory rate= how many breaths a minute they are taking) all of these are signs they are working hard to breathe. DO NOT put them on a nasal cannula with oxygen. That's like "putting a bandaid on Cancer" as Dr. Bach would say. You are only masking the fact that they need ventilatory support. If they start to drop their oxygen saturation, they most likely need to be placed on BiPap or the vent via trach, maybe they need suctioned, or coughed to clear secretions from the airway. Usually this alone, will raise their Sats. REMEMBER: If oxygen is needed constantly, there's something else wrong. Something in the airway needed clearing, or just a need for more ventilation.
6) DIET: SMA patients should not be over the 10th percentile in body weight. If they are heavier it makes it harder for them to move causing them to not move and lose their abilities to do so. Since babies need more fat in their diets for brain development you can choose a formula such as "Neocate Infant" or "Elecare" that are on the lower end of fat, yet give baby everything they need for brain development. (Breast milk is best, even for SMA babies) These formulas are also "Amino Acid Based" formulas, meaning they are already broken down for baby so it's less work their body has to do to absorb the nutrients. Constipation, gut motility, and bowel regulation can become big problems in SMA. Around age one, you can start baby on the SMA Amino Acid Diet.
7) SURGERY: At some point you will need to decide if you choose to place a GTube into the belly for feeding and a Trach into the airway for ventilation. Both my boys are trached, but we did try very hard for Carter to be successful with BiPap (Trach= invasive ventilation, BiPap= non-invasive) Many SMA families choose non-invasive and BiPap their child. Some can even still breathe on their own during the day and only BiPap at night while asleep or maybe also for a daytime nap. Please remember, EVERY CHILD IS DIFFERENT! This is yet another very important choice you can make. Good thing is, BiPap is a facial mask, so if at some point you decide you no longer want something always on your childs face, you can talk to your Pulmonologist or ENT and discuss trach surgery options. Again, many families are very successful with Bipap, Carter just wasn't. He collapsed his right lung several times a week causing life threatening emergencies, leaving us to decide to trach him, and we are more than happy we did. We no longer have to "deep suction" up his nose (as his nose and throat started to get irritated and bleed when he was sick and needed lots of suctioning). We also now can cough him by hooking the cough circuit to his trach instead of a mask sucking on his face. He tolerates the cough machine much better now and we are able to pull out more secretions, faster. Again, all of this is nothing more than OPTIONS for your family to think about! Every childs response and every parents wishes are much different. There is no right or wrong.
When/If you choose to place a GTube in the belly for feeding, it's wise to also have the surgeon do a "Nissen Fundolplication" whereas they simply tie the top of the stomach to help reduce the risk of reflux.
8) EQUIPMENT: Our kiddos use lots of adapted devices and equipment to aid in daily living. There is so much to choose from so discussing your childs needs to sit, stand, communicate, be mobile, etc are something great to discuss with your therapists and/or other experienced families. You can also visit our equipment page for some helpful advice.
Palliative care is a route of less intervention. A route of avoiding extraordinary measures to prolong your child's life. Information can be found HERE.
Intervention is the route our family chose and where I will mainly focus in this section. There are tons of resources and other families who will always be there for help and support! Once your family has decided you will intervene to prolong your child's life, you can use this section to help guide you on the right path to assist your child as needed, and to prepare your family for the future. Keep your head up, learn what you can and enjoy every second with your baby! NO ONE can tell you how long your child, or any of us for that matter, will be here, so don't let a doctor, etc get you down with negativity, no hope, doom and gloom! SMA is a crappy disease without a doubt, but I enjoy every second I have with Carter, and as long as he shows me he's happy within himself...I'll always be right by his side to keep him as healthy as possible.
When you notice something's Not Right
A typical SMA child is born to what we think is a perfectly healthy child, though, some research says the baby may start to lose movement while still in the womb. Most cases, the child is born with normal movement and loses it at some point after. The time in which the child starts to show signs (usually loses leg movement first) is used to also configure what TYPE of SMA the child has. There are other factors also that determine what type, such as milestones that are not met, and results of the blood test confirming the SMN1 gene is missing and how many repeated copies of SMN2 are present. There are typically 3-4 types of SMA, Type 1 being most severe. Usually Type 1's show signs before the age of 6-10 months. Carter stopped moving his legs at 2 months old, and it was a very sudden loss leaving us questioning, "How did we miss this?"
Usually you will notice there is a loss in leg movement or maybe total loss. The legs will "froggy" out when lying. You may start to see loss of head control and they may become floppy, same for the arms, though, arm movement tends to be lost later on. Weakness is present but many type 1's have some arm movement. Some also can move the ankles and feet, especially when lifted in a way to free them of gravity or the surface they are lying on. Some children will also have tongue "fasciculations" where the tongue seems to "quiver."
When any of these things are noticed please get your child to the Pediatrician, whom in turn will most likely send you to a Neurologist. After the child is examined by the Neurologist, it may be suspected the child may have Spinal Muscular Atrophy and a blood test will be done to confirm the diagnosis. Typically this test takes about 3 weeks to return results. Your Neurologist will likely call you back in to give you these results. If confirmed, you should be given all the information you need: diagnosis explanation, choices, resources, and support. This is not always the case, nor are you always given the correct information, and its not always the most optimistic information either. Its okay though, there are so many resources and families to guide you! That's why I created this website, in hopes it aids with information, resources and support if you choose to move forward with the given diagnosis! In my opinion..their life is more than worth it :-)
What you need to do to prepare your child & family for disease progression:
Your first intervention needs to be preparation and education about this disease on YOUR END! Make sure you contact families, read, and learn, learn, learn!
1) THERAPY: Have your doctor write a script for Physical therapy (PT), Occupational therapy (OT), and Speech therapy (ST). Your child will need therapy. It will play a vital role in preventing painful stiffness, contractures, and the progression of the loss of movement at a possibly faster rate. Be sure when you settle on a therapy company, that you and your therapists are on the same page with the goals you want for your child. Your therapist needs to have a positive attitude and be optimistic with the goals for your family. I don't believe that a therapist should make the call that they cannot help you get the equipment your child needs because they possibly might have a short life and the money will have been wasted (yes families have been told these awful things!)
Remember.....There is no one who can make that call...but the man upstairs!
2) FEEDING: If your child is still eating by mouth with no problems, your doctor might say it's okay to continue feeding that way until problems start. It might be worth it to ask your Pediatrician for a "swallow study" to make sure your child's not silently aspirating but not showing you signs. This is possible, and you won't know until your child develops something such as pneumonia from the food having been aspirated into the lungs. A "swallow study" is a simple, non-painful test that you do under a live x-ray. Your child will sit in a special chair and you will feed them whether by spoon or bottle. The technician or therapist (usually a Speech Therapist) will actually add "Barium" to the food. Barium is like a white chalky substance that will show up on the live x-ray. Your child will eat/drink as its quickly recorded (usually only about 4 minutes worth of recorded video.) The therapist will be watching to see how effective the swallow is and if its actually going down to the stomach or down to the lungs. If he/she passes then feed until the moment you see signs. If he/she fails then you should discuss with your doctor if you want to either place a feeding tube into your child's nose that will go down into the stomach so you can feed that way, or if you choose to have surgery and place a GTube into the child's belly. The surgery is not that bad, and is a reversible surgery. It is usually done by a General Pediatric Surgeon or a Gastric Surgeon and is not a long surgery. It will be a tiny hole into the belly area that a tube is inserted into the child's stomach. (Some look like the part of a floatie that you blow in to inflate a floatie.)
3) AFO's: Have your occupational or physical therapist look at your childs feet. They will start to curl down and inward and will need to be molded for AFO's (Ankle-Foot Orthotics) They are just boots specially molded to your child's feet to help keep the ankle bend (Shoe position) and so on. You usually can pick a color and design from their pattern options to make them fun. They will wear socks with the boots as they are made of a hard material. Some AFO's fit into regular shoes. I'm told to just buy a size larger so the AFO's will fit. Some kids sleep in theirs, others wear them off and on. The Orthotist that molds them will usually give a recommendation.
4) BREATHING: Usually the childs respiratory status will start to change after you have already seen loss of movement, possibly feeding, etc. Many SMA kids will need respiratory support starting when they sleep. Later on it seems to progress to maybe an awake and asleep need. Perhaps you should be PREPARED for this progression by having already talked with a Pulmonologist and maybe having a ventilator and bipap masks ready so you can place your child on respiratory support to aid their breathing difficulties. You might have to do this in the hospital so that the ventilator settings may be perfected and have the respiratory therapists find a mask that fits your child's face with minimal leaks. These are all very important factors in successfully ventilating your child. Settings may be an issue depending on your location and the willingness and knowledge of SMA on the hospital staffs end. It has been an issue of under-ventilation for many families. Typically an SMA patient does NOT have stiff lungs and usually requires a bit of higher ventilation. If on BiPap, there's typically a span of 10 between what is set as the IPAP and EPAP. The PEEP is typically about 5. (PEEP is the amount of air that is left in the lungs when exhaling so as not to exhale all of the air out of the lungs). Tidal volume in SMA is usually around 8-10cmH2O per Kilogram of weight. (ex. If Carter weighs about 20 lbs...you divide 20 by 2.2 to convert it to kilograms. This will give you about 9, so his weight is about 9 kilos. Since, in SMA, you typically ventilate at about 10 per kilo, Carter's Tidal Volume should at least be 90. Tidal volume is the amount of air going into the lungs. Many doctors do not like to do 10 per kilo, saying you can cause a pneumothorax (blow a hole in the lung by over-ventilating) whereas this is not totally true, therefore causing many physicians to under-ventilate an SMA patient! All of this information is referenced by Dr. Mary Schroth (a leading SMA Pulmonologist) on my other pages. Yes, it is possible to blow a hole in a lung if over-ventilated but unlikely and even harder to do while using Bipap via face mask instead of a tracheostomy (trach). Rate is another very important ventilation factor. If your rate (breaths per minute) usually set on the ventilator....is set too low you can retain carbon dioxide(CO2) and this will also cause the SMA patient to work much harder to breathe than necessary. It's said that a good rate especially if the child is sick, would be to watch how many breaths they are taking on their own and pretty much match it. So if they are taking about 30 breaths then set the vent Rate at 30 so that you allow them to rest and use their minimal energy and muscles to heal. The CO2 levels should be monitored, typically with a "blood gas" which is a simple blood draw, or finger/toe prick. Normal CO2 levels should stay somewhere between 35-45, that would be ideal. (Textbook would say 7.4 and 40) These are two different numbers; a CO2 monitor will read you the 40 number, whereas blood work will give you both numbers.
5) OXYGEN: SMA patients should not need constant oxygen (O2)!!!!! This CANNOT be stressed enough! The biggest mistake made in SMA is to get diagnosed and a doctor send you home with oxygen and a nasal cannula and you keep your child on oxygen all day because if you remove it their Sats (oxygen levels) drop. This means your child NEEDS VENTILATION.... NOT OXYGEN! You can keep oxygen around at all times as a "pick me up" or assist when very sick, desatting from cough machine and suctioning, etc but then TAKE IT OFF! Your child should be able to maintain Sats 95 or greater on room air (21% oxygen). That's what we breathe. If their heart rate is higher, respiratory rate is higher (respiratory rate= how many breaths a minute they are taking) all of these are signs they are working hard to breathe. DO NOT put them on a nasal cannula with oxygen. That's like "putting a bandaid on Cancer" as Dr. Bach would say. You are only masking the fact that they need ventilatory support. If they start to drop their oxygen saturation, they most likely need to be placed on BiPap or the vent via trach, maybe they need suctioned, or coughed to clear secretions from the airway. Usually this alone, will raise their Sats. REMEMBER: If oxygen is needed constantly, there's something else wrong. Something in the airway needed clearing, or just a need for more ventilation.
6) DIET: SMA patients should not be over the 10th percentile in body weight. If they are heavier it makes it harder for them to move causing them to not move and lose their abilities to do so. Since babies need more fat in their diets for brain development you can choose a formula such as "Neocate Infant" or "Elecare" that are on the lower end of fat, yet give baby everything they need for brain development. (Breast milk is best, even for SMA babies) These formulas are also "Amino Acid Based" formulas, meaning they are already broken down for baby so it's less work their body has to do to absorb the nutrients. Constipation, gut motility, and bowel regulation can become big problems in SMA. Around age one, you can start baby on the SMA Amino Acid Diet.
7) SURGERY: At some point you will need to decide if you choose to place a GTube into the belly for feeding and a Trach into the airway for ventilation. Both my boys are trached, but we did try very hard for Carter to be successful with BiPap (Trach= invasive ventilation, BiPap= non-invasive) Many SMA families choose non-invasive and BiPap their child. Some can even still breathe on their own during the day and only BiPap at night while asleep or maybe also for a daytime nap. Please remember, EVERY CHILD IS DIFFERENT! This is yet another very important choice you can make. Good thing is, BiPap is a facial mask, so if at some point you decide you no longer want something always on your childs face, you can talk to your Pulmonologist or ENT and discuss trach surgery options. Again, many families are very successful with Bipap, Carter just wasn't. He collapsed his right lung several times a week causing life threatening emergencies, leaving us to decide to trach him, and we are more than happy we did. We no longer have to "deep suction" up his nose (as his nose and throat started to get irritated and bleed when he was sick and needed lots of suctioning). We also now can cough him by hooking the cough circuit to his trach instead of a mask sucking on his face. He tolerates the cough machine much better now and we are able to pull out more secretions, faster. Again, all of this is nothing more than OPTIONS for your family to think about! Every childs response and every parents wishes are much different. There is no right or wrong.
When/If you choose to place a GTube in the belly for feeding, it's wise to also have the surgeon do a "Nissen Fundolplication" whereas they simply tie the top of the stomach to help reduce the risk of reflux.
8) EQUIPMENT: Our kiddos use lots of adapted devices and equipment to aid in daily living. There is so much to choose from so discussing your childs needs to sit, stand, communicate, be mobile, etc are something great to discuss with your therapists and/or other experienced families. You can also visit our equipment page for some helpful advice.