SMA Awareness: Is there a cure for SMA?

NO. Currently there is no cure for SMA, BUT there are care options, and they can allow these babies and children to have wonderful lives!

I will never forget being told by a nurse that was taking care of Leo while we were in the hospital, “Don’t trach your baby. Then he will just be there. He won’t be able to do anything, and he will not have a good life.” I cannot express the anger I felt when hearing that. This was our baby, and we were going to do everything we possibly could to give Leo joy, happiness and an amazing life. (All of our other nurses were great and loved Leo)

Part of SMA awareness and sharing Leo’s story is to share our message to Love Every One. Part of this is understanding that we are making the decisions that we think are best for Leo. There are other care options, and we believe every parent is doing what is best for their child. They are all horrible decisions, and there is no right or wrong. We just hope and pray that parents will be educated about the specific care options. All too often we hear stories of little ones in critical condition being told they don’t have options all while receiving improper care that is completely against protocols that were established years ago for SMA. Below are the very basic care options.

1. Non-invasive Care- this includes chest physiotherapy, cough assist and BiPAP, feeding tube
2. Invasive Care- this includes a tracheostomy with ventilator support.
3. Palliative Care-this is when the parent would choose that the above options are not right for their child. It is often termed a “comfort care” approach in which alternative treatments such as oxygen and medication are used to keep the baby comfortable. The majority will not live past 1 year.

This does not mean that there aren’t gray areas and overlap, and it certainly doesn’t mean once one path is chosen you no longer have choices or options for another. We have had many difficult decisions to make. We are currently doing a non-invasive approach with Leo, but again, we believe that there are no wrong decisions. We pray that God will continue to guide us along his path he has chosen for us and Leo. We are doing everything in our power to give Leo the very best life. He is not just there, he is living and he loves his life!!

SMA Awareness: Respiratory

One common question we often get is if Leo uses oxygen, or if his BiPAP is giving him oxygen. Although we do carry an oxygen tank in case of an emergency, Leo does not get oxygen. SMA does not cause a problem with gas exchange in the lungs. Therefore, the blood is getting oxygenated as needed. What happens with SMA is the actual muscles that are used to take a breath are weakened to the point where breathing becomes very difficult. The muscles in between the ribs, the intercostal muscles, are weakened to the point that Leo uses his diaphragm to breathe.

A drop in oxygen levels can occur but it is typically due to 1) airway blockage by mucous or a plug which must be cleared using cough assist or suction 2) Leo becomes so fatigued to the point he can not physically take a breath (this can happen when he gets very upset) or 3) improper BiPAP settings or mask/interface. Unfortunately

we see all too often when these babies are being treated under physicians care that are not familiar with SMA, they are quick to put them on oxygen which only masks the underlying problem and can actually be very dangerous.

Most babies with type 1 SMA would benefit from breathing support at night starting at a very young age. When sleeping, the muscles used to breathe are more relaxed. When these muscles are already weakened, the breaths become very shallow. This can result in a drop in oxygen levels and an increase in carbon dioxide (hypoventilation). Non-invasive support using a BiPAP machine (or ventilator) can be extremely effective in helping provide support. This machine uses a mask that covers the nose, and provides additional respiratory support by forcing air into the lungs. This allows the baby/child to receive a higher volume of air, and also helps keep the lungs more expanded during exhalation. The vent has a set rate of breaths it gives in a minute and can also sense when Leo is taking a breath. So it gives breaths when Leo is having trouble taking them (or asleep), and helps give the breaths he does take on his own more support. A BiPAP can also be lifesaving during times of illness. We call it a BiPAP often but technically this is a ventilator (vent) used non-invasively as a BiPAP not a true BiPAP machine. We also sometimes call this “his mask” when referring to the vent.

When Leo is on his vent, he gets to rest. For the most part he only needs this while sleeping at night and during naps however, there are often times when he had to be put on his vent when awake for different reasons. He is usually on his vent when I am driving any further than our local park or on the interstate. If it is past naptime or if Leo is staying up late one night, we will also put him on it so he can rest. Leo is pretty laid back, but like any toddler he can get upset and have a tantrum. For Leo, this can spiral into serious situations if not handled quickly. He will clamp down and his heart rate and oxygen can drop rapidly, and he will need his vent to give him those breaths to recover. It is also helps him while sitting up or standing. Leo has always been a little fighter, and he will still fight being put on the vent when he does not want it or think he needs. For the most part though, it has become very comforting to him, and he enjoys being able to rest and breathe easy.

SMA Awareness: Types of SMA

We raised $3630 with the booster shirt fundraiser! You all continue to amaze us! We had no idea we would come anywhere close to selling 238 shirts and raising this much money! Thank you so much to everyone that purchased a shirt and made donations in honor of Leo. Please wear your shirt to continue to spread SMA awareness. The funds raised will be combined with funds from Go Leo Go.

As we are now going through the process of establishing Leo’s Pride as a foundation, we decided it was important to have a website with information about SMA, Leo and Leo’s Pride. Please visit leospride.org !

SMA Awareness: Did you know there are different types of SMA?

Type 1: Non sitters, never able to sit. Onset before 6 months, most commonly before 3 months. Children have hypotonia and decreased movement of arms and legs, swallowing and feeding difficulties, and impaired breathing. Prognosis is poor with 80% dying by age 1 with the majority of the rest by age 2 (without intervention). Sometimes the most severe cases of type 1 are termed type 0. These babies are born extremely weak and often only survive a few weeks after birth even with intensive respiratory support. 60% of individuals with SMA are type 1.

Type 2: Sitters, unable to walk or stand independently. Onset between 7-18 months. Legs tend to be weaker than arms. May have swallowing difficulties and difficulty with weight gain, weak intercostal muscles (for breathing). May have difficulty coughing and clearing tracheal secretions. 27% of individuals with SMA are type 2.

Type 3: Stand and walk. Onset >18 months and variable. They achieve independent ambulation. Some may lose this ability and childhood while others may maintain until adolescence or adulthood. Swallowing, cough and hypoventilation are less common but may occur.

Type 4: Walk. Onset is usually in the second or third decade of life with mild motor impairment

Types 3 and 4 combined make up ~12% of SMA cases. In general, walkers have relatively preserved pulmonary function until late into their disease course.

Leo stood up this morning!!

SMA Awareness: Pet Therapy, acceptance and love through the eyes of a dog.

It is hard to go back to the day we were given Leo’s diagnosis of SMA. Emotionally and mentally, it seems so long ago (21.5 months!). Terminal diagnosis, life saving equipment that we would need to become experts at using every day, medical ramp on the front steps of the house, accessible van, ever changing diets…..it was a never ending list of new things. Intimidated by the amount of supplies and equipment would not describe it. How are we going to do this? How are we going to give Leo everything he deserves if we are having a hard time seeing past what comes with SMA? Faith in God. Realizing the special opportunity we have been given to love and care for Leo. To raise a child. And not unlike any other parent, make mistakes but give it our absolute best…together. Faith and Together are the key words here, and the unlikely leadership that came from our dog Wyatt.

You read that correctly, leadership from Wyatt. As new parents we saw a beautiful baby boy, entrusted to us. We felt the unconditional love and bond with our son. And we saw a mountain of SMA hurdles in front of us. But Wyatt only saw Leo. Curious at first, then interested and now inseperable. Wyatt reacts the same to Leo whether he is in his wagon, on his medical stroller or laying down watching cartoons. Leo could be on his bi-pap surrounded by his equipment and if invited Wyatt would clear a path and settle right in next to him. In his mind the medical ramp on the front steps is equally for him as it is for Leo. An accessible van gives him more room to be close to Leo on trips to the park. SMA has not impacted any decision Wyatt has made when he is with Leo. Wyatt was never intimidated by all the equipment, he didn’t waste time on the diagnosis and has not proven responsible enough yet to make changes to Leo’s diet. Dogs are not programmed to react to whether or not somebody is in a wheelchair or walking on their own . They respond to love. Wyatt reinforced our decision on how we were going to live our lives. No sense in trying to be in control of what is out of our control. We will put that energy in to our faith, and let the resulting love guide our decisions. It is all in how you see things, and sometimes that is better through the eyes of a dog.

https://www.youtube.com/watch?v=aSd8cNDfGSw

The LEO grant

A little long, but exciting news!

Those of you that follow Leo know that he (and we) like to stay on the go! This was not always so easy. Leo has to have what is best described as a mobile PICU with him at all times. He has a suction machine, feeding pump, pulse ox (to monitor heart rate and oxygen levels) his ventilator, cough assist machine, oxygen and ambu bag. Then there are the supplies that the equipment requires, and backup items. This is a lot of stuff to transport in and out of a car! We had to load these items piece by piece, along with Leo’s medical stroller. Leo had to travel in a car bed (which looks like a large cooler) so he could remain flat. We could also not travel alone with him for safety reasons. It was not always easy, and we tried not to let this slow us down, but having an accessible van has changed our lives.

With a portion of the funds raised from the 2014 Go Leo Go, Leo was able to get an accessible van which has given Leo so many new opportunities! Leo is able to travel safely, comfortably and with ease. We can have his medical stroller loaded with his equipment, and just wheel everything out of the house right into the van! Leo remains in his stroller which is locked into place, and he wears a special seat belt. Simple trips like taking Leo to the grocery store are now possible, and something we do often! Prior to the van making two stops in one trip was out of the question! He has been from Wisconsin to Florida, and many places in between. He has strolled through Nashville, been to one of the highest peaks on the Blue Ridge Mountains, cruised SC beaches and toured the Low Country. He has even met Mickey Mouse himself at an amazing vacation in Disney World! We are so grateful from the generous support of Leo's Pride that has made this possible, and has given Leo the opportunity to experience so many different places. We could never express how much your generosity has impacted in our lives.

This has been the inspiration for the new grant, the Love Every One (LEO) grant of which we will be awarding to two different families! We are so grateful for our van, and we want others to be able to experience the joy and freedom that comes with obtaining an accessible van. Our goal is to have $10,000 from Go Leo Go funds to be divided between two families. One grant will go towards a family that has a child (or children) with SMA. The other grant will go towards a local family that has a child (or children) that also have a need for an accessible van for medical reasons. We are so excited that Leo's Pride is touching people's lives in so many ways! The grant application will be available after Go Leo Go when funds have been raised. Check back at the end of the year for details. There is no additional information at this time!

SMA Awareness: A cold can be fatal

A minor cough or head cold for one baby can be fatal for a baby or child with SMA. Those with SMA are at high risk for infection and pneumonia. This is not because they have a weakened immune system. In fact, most have an immune system as a healthy child the same age would. Because children with SMA (type 1) do not have a cough strong enough to clear their lungs, secretions from a cold or other infections can become lodged in the lungs and lead to pneumonia. Viral respiratory infections such as RSV can often be life threatening. RSV is highly contagious and like colds, is more common in late fall and winter months. In a healthy baby this is equivalent to a very bad cold. For a baby with SMA, this can cause severe breathing problems and lead to hospitalization and death.

We always have to be very careful with what we expose Leo to. If anyone has had a cold, been around someone with any signs of a cold, or even has a tickle in their throat then we can not have Leo exposed to them. It is just not worth the risk. If we are going to be in a group of people we always make sure no one is or has been sick. We keep hand sanitizer right beside Leo in his stroller for people to use that may come in contact with him or want to hold his hand ect. We LOVE Leo getting to meet as many of his prayer warriors as he can! We just ask that everyone is always mindful of the consequences of Leo getting a cold.

We are always so very happy when someone tells us they have been around someone sick, or feel like they might be getting sick or just aren't sure prior to being around us or Leo. We also love summer and outdoor adventures. We are not looking forward to cold/flu season. It can be difficult not be able to do things because we have to be so cautious. But this is the best thing for Leo. We always want Leo to have every experience possible. We pray we can continue to find a balance in letting him be social and have new experiences while staying healthy.

This was Leo helping in the kitchen yesterday! He loves to help. He also loves numbers, and he wants to count everything we are doing or touching!

SMA Awareness: Communication!

Like Leo's other muscles, the muscle he uses to speak are also weakened. It requires a great deal of coordination to be able to speak, and his strength is not great enough to be able to vocalize as clearly as most. Leo uses various methods of communication. He has a Tobii Eye Gaze computer. This is a computer with games, communication software and internet access that Leo can control all by using his eyes! He has been able to operate this computer since he was 10 months old! His progress and ability to navigate using this computer has amazed all of us! Like other children, he is growing and learning so fast and we are so very thankful that we live in an age where he has access to such amazing technology. He enjoys talking about his best buddy Wyatt, playing music and other games. He has been able to tell me about the animals at the zoo, when he needs a diaper change and say "I love you." He also likes to say wagon ride, and outside (his favorite things). He also loves to talk about his friends, family and therapists that are pictured on his tobii.

He very much understands that this is his voice. He will say things and then look to us for our response after saying them. He will say "I love you" and then grin, cut his eyes at us and give a sweet giggle.

We were originally told Leo would not be able to get this device until he was two years old !! We decided that was just not acceptable! We knew Leo could benefit from this device much younger than that. We took him to the South Carolina Assistive Technology Center, where the director agreed to let Leo try the device. Well he blew us all away! She immediately said "When can you come back?" and "This is amazing, he needs to be getting this device, he is doing it!" The director at SCATP has gone above and beyond to see Leo reach his potential. She does not know the word can't, and will instead find a way. (visit http://www.sc.edu/scatp/index.htm, this program is NOT limited by eligibility criteria and has a mission to help! "SCAPT helps people find Assistive Technology for all areas of life, with particular emphasis on education, employment, information technology (IT) and telecommunication, and community living." I would encourage you to share if you know someone that could benefit from these services. I am so very thankful we have this resource. Leo's SLP has been wonderful as well and works 2x a week with Leo ! (when he is not out for zoo therapy) She shares the same attitude of nothing is going to hold Leo back, and we are so very appreciative of that. Leo loves having speech therapy, and he works very hard the whole time.

Leo also communicates by saying "uh huh" and blinks once for yes. He also makes choices by looking at a particular item. We have learned to read his eyes and other expressions. His eyes tell us so much!

Candle Lighting

We had an amazing day today with friends and family. Leo has become quite the lake lover, and he had a great time going on a boat ride and hanging out on the dock!

This evening we lit our candle in honor of SMA angels and warriors. There are many times we push aside the reality of what a diagnosis of SMA can mean. We choose not to think about this, and celebrate and live in the moment. Tonight we celebrate our warrior Leo, but also celebrate the lives of all the many other warriors and angels. Our hearts ache for the families that are going through such incredibly tough times after the loss of their child, tough times that we can only imagine do not end. We send our love to all of you.

We are so very blessed to have Leo. SMA is horrible, but Leo is as put today "an angel on earth". Leo and so many of these children have touched so many lives, and are changing the world. We are also reminded once again, how very blessed we are to be surrounded by love and support for us and Leo. Friends and family have reached out in so many ways along our journey. You all will never know what this means to us. Thank you so much.

A day in the life of an SMA warrior

A day with SMA is very different than a day in a life without SMA. BUT it is also very similar!

Leo and I start our morning whenever he decides it is time to get up. This is usually around 7. Adam or I set up his iPad with Mickey Mouse and then begin his breathing treatment. This consists of manual CPT (chest physiotherapy) where we pat over all lobes of his lungs with a special mask. This helps break up any “junk” that might have accumulated overnight. We put him on an incline so gravity can assist with the drainage of the “junk” and run a nebulizer with saline to help thin things out. After about 25 minutes of CPT, we cough him. This involves uses a special machine that simulates a cough. Leo’s muscles are not strong enough to perform a productive cough. Thankfully, we have this machine that is able to force air in and out of his lungs and airway to pull the junk up. It is a process of cough, suction, cough, suction…rotate repeat basically until everything is up. We then do very typical toddler things! I wash his face, brush his hair and get cleaned up and changed for the day. I also change his linens, give meds, do eye care and oral care and apply daily oils.

We then migrate downstairs where Leo hangs out and watches a little Disney while I change his feeding bags and get a new feed set ready for the day. I then massage his legs and arms followed with stretching. This all takes at least an hour and a half. We then typically load up for an adventure, usually the park or zoo or another fun activity, or he has therapy and then we go out. It is usually close to or past naptime when we get home and I will take him upstairs for nap. He usually rests very well. He at least has two hours of being on his bipap whether he is sleeping or just resting. We usually spend afternoons at home walking down the driveway, watching the chickens or playing and working (on sitting up ect ) inside.

Bedtime routine is also about an hour and half or more and consists of another breathing treatment, bath, bedtime stories and prayers.

Adam and I are usually a good team and alternate morning and evening treatments around what the other person needs to get done.

On Fridays, Leo has therapy mid-morning and usually a busy weekend ahead, and we often spend the mornings at home. Today we walked the driveway, hung out with the chickens and played on the porch. Leo then worked very hard during physical therapy and also had a visit from his HME to check his respiratory equipment. I snuggled with him on the couch for a little bit before taking him up for his nap. Once Adam got home we all went to the grocery store and hung out the porch before going to bed.

We do have to spend a lot of extra time doing things that aren’t “fun”. Just going up and down the stairs, moving equipment transferring and getting set up takes a good bit of time. But we try our very hardest to make everything fun for Leo and to get everything we can out of every moment. Typical or atypical, it is our life, and it is so very normal to us. We are so very thankful for our typical days, because we never know what is around the corner.

Oil'n for Energy !

I have been wanting to share a little more info for those of you that have expressed interest on how we use oils. Since using these oils and products, I have discovered new energy levels that make my days that much more fulfilling. As I am sure many of you can relate, sleep is not always the priority. And even when it is, that doesn't mean you will get the sleep you need!


A good night for me is 3 consecutive hours of sleeps. Thankfully, "typically" Leo will go back to sleep fairly well on his own after repositioning, suctioning, or doing whatever he needs. I am so grateful that I usually fall back asleep as well! (another post on oils and sleep will have to come!) Eating well, and exercise are a must for energy. For me, a nap typically makes me more tired. I gain much more emotionally and physically from using that time doing something active, but sometimes that is not an option, and I was still feeling fatigued. Enter essential oils and supplements!

I started drinking a metabolic blend of essential oils that includes grapefruit, cinnamon, lemon, ginger and peppermint. I drink this first thing in the morning. I also started drinking more water and adding a drop or two of lemon with every glass. Doing this alone I began to notice a difference. I had much more consistent energy.

I love to add a few drops of peppermint and wild orange in the shower in the mornings. I just let it get a little steamy and then pour the drops on the floor. It is so refreshing and uplifting! I also love to diffuse oils. I use the time while Leo is napping to try to get a few things done around the house, making phone calls regarding Leo, and I also inevitably end up on the computer working on something.  The computer drains me. Phone calls with the insurance company are also draining and can push making one to go into hysterics, but they are necessary. Things like this could really negatively impact my day if I let it. So I began to diffuse different oils while I am trying to get things done. It is amazing the difference this makes. It makes me feel productive, not drained! I love citrus oils, orange, lemon and citrus bliss are a few of my favorites. I also love to add a little peppermint sometimes.

I love to keep peppermint on me at all times now. I will place a few drops under my tongue, add a little topically or inhale the aroma. It is a great instant energy booster. A drop or two of peppermint and orange can go a long ways!

The next thing I added was taking supplements every day. I have never been great at taking supplements (besides the time I was pregnant with Leo). I would try to "commit" to taking something and would never really became a part of my daily routine. The oil kit I purchased included their supplement pack which happens to be their best seller. Among many things they contain some of natures most powerful antioxidants and 9 different essential oils, Frankincense, thyme, cumin, orange, peppermint, German chamomile and clove.


I was really excited about trying the supplements and it quickly became a part of my routine. Now I was really seeing a difference. I used to drink 2-3 cups of coffee a day. Two in the morning and 1 in the afternoon. I was never "trying" to cut back on coffee, but one day realized I am only drinking one cup in the morning (which I will never give up). I am not saying drinking coffee is bad, it is just nice to not even have the thought "I need some coffee". I also still have may days when I want my coffee, but in general, caffeine in the afternoon is not a must or even a thought.

I am forever the skeptic, and a huge believer in the power of the placebo effect, so I am constantly running my own little "trials" with new products. I ran out of my supplements, and decided I would wait a week before I decided if I would make them a part of my next order. Well oh my goodness, I should not have done that. I could tell immediately. This is actually what inspired this post. I could not believe the impact these supplements had made on my days! I really just felt like I needed to share this because I know so many of us could us a little more energy.

Another very important part of knowing and balancing my energy levels I have learned from Leo. He works so very hard every single day. At times, he doesn't have the strength and energy to catch his breath, and has to be put on his vent. Energy for him is limited. This has taught me to view my energy the same way. It helps me not waste my energy on things that really don't matter. There is just
no point it doing that! No one benefits.

Now, if we can only have more hours in the day! They are filled with joy, and they
go by way too fast.

Train with Leo !

Leo has been getting very excited for GO LEO GO and his party! We hope everyone enjoys watching Leo do some of his training for Oct 31!

https://youtu.be/H2cFp2cDUP4