SMA Awareness: not just muscle weakness

A diagnosis of SMA means so much more than just “muscle weakness and wasting”. Aside from the feeding, swallowing and respiratory issues, there are many other issues that develop because of SMA. Many have orthopedic problems, GI dysfunction, and new research is being conducted regarding autonomic dysfunction in early onset SMA.

Orthopedic problems can also become a major issue for individuals with SMA. Issues vary with type of SMA. Individuals with type 1 can have limited range of motion and can develop contractures due to the inability to move joints within their normal range. They also have poor postural control and alignment because of their profound weakness. They often have progressive scoliosis and this can lead to the necessity for surgical correction. They are also at risk for hip dislocation, increased risk for pain, osteopenia and fractures. Proper postural support, orthotics/braces to prevent contractures, assistive and adaptive equipment and ongoing reassessment are very important.

Research is also currently being conducted to examine autonomic dysfunction in early onset SMA. Autonomic dysfunction is a broad term that refers to the autonomic control of basic bodily functions including heart rate, body temperature, breathing rate, digestion and other systems. It basically refers to the things that happen that you don’t have to think about. According to Dr. Bach, “about 20% of children with SMA type 1 and 2 have slowing of heart rate below 60 beats per minute. At times the slowing is to below 40 beats per minute and results in loss of consciousness.” He also explains that there have been several cases in which children have died suddenly because their heart rate drops to zero.

Most individuals with type 1 SMA are on special diets. While all children are different, and there is some variation, in general most do best on an amino acid diet. Unfortunately, because the research has not been conducted yet, many physicians and dietitians are reluctant and might refuse to right for this diet. It can often be yet another battle we as parents have to fight. And it is so important to do so!! This diet consists of an elemental formula that is easier to digest and has very little fat. Most parents using this particular diet have found their children to have slower/less progression of disease, fewer secretions, less constipation, improved respiratory health and overall improved. Too much fat can result in the baby working so hard to digest their food that they end up burning too many calories and actually struggle with weight gain. Many have found decreasing fat to less than “typically” recommended levels can result in healthy weight gain. Children do still need some fat in their diet. Breast milk is a well tolerated fat that provides calories and fat needed without added complications and side effects. Leo has been receiving donor mild for sometime. We are so thankful to have had friends, friends of friends and strangers reach out to provide Leo with this priceless gift. We have been running very low on milk, so I decided to post to a group on Facebook to see if their were any donors willing to donate to Leo. Once again we were blown away by the outpour of love and support shown to us and Leo. This has taken a stressor out of our lives. The thread is really something to read. So many moms coming together to help give Leo a gift than I can not. It brought tears to my eyes. We are so thankful.

Leo had a great weekend! We went to Charlotte to visit family. Leo loved the Whitewater center! He loved watching all the action and of course being outside! We also had a great trip to Freedom Park. Leo loved getting to play with his cousins and spend time with his family!

Leo's Interview!

Here is the link to the interview!We are so very proud of Leo! He did so great!

Thank you Jasmine Styles and wltx for helping share Leo's story! He had so much fun watching himself on TV!

http://www.wltx.com/…/technology-allows-boy-rare-…/32444529/

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

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!