An Unexpected Turn

I would like to take a moment to thank you all for your love, support, thoughts, and prayers. We felt them all last Thursday when we made our trip to Nemours duPont Children's Research Hospital where Liam was evaluated for his candidacy to receive assistance from their Wilmington Robotic EXoskeleton (WREX) device which would provide him with freedom of mobility in his arms so that he could easily feed himself, hold crayons and draw, and wrap his arms around our necks.

Liam was not considered a candidate for the robotic arms at this time. This turned out to be unexpectedly great news. The doctors and therapists (five in all) that evaluated him agreed that he shows so much potential in the progress he has made so far, that they are concerned that the WREX device would only hold him back. It was recommended that we continue the aggressive therapy he has been receiving since birth. They offered tips and advice which would accelerate these efforts. They asked us to keep them updated with photos and videos of his progress and perhaps sometime in the future, he will be considered again for his candidacy for the WREX device once he has reached his expected potential.

In the meantime, the doctor, who is a specialist in Arthrogryposis, and the occupational therapist on her team recommend that Liam gain as much passive motion in his elbows as possible. This means that they want him to be able to bend his elbows a little more on his own. The occupational therapist fashioned an elbow splint to be applied to Liam's left elbow while he sleeps so that it will start bending as well as his right elbow currently bends.

While we are on the subject of great news, the physical therapist examined his use of his new ankle foot orthotics (AFO) and determined that he is ready to be walking any day now. She predicts that he will be walking in them, unassisted, in two months! Before the physical therapist saw him, the doctor had just suggested that he may need a cumbersome leg brace which would reach from above his hips to his feet and help him develop walking muscles over time. Thank goodness that won't be necessary! 

The physical therapist also recommended we no longer use the supine stander which is pictured in an earlier blog post, as at this point, he needs to work on balancing on his own two feet. Furthermore, she suggested we cut holes in a pillow case, put Liam's legs through the holes and let him walk, catching his falls with the pillow case so he can learn to balance himself. Alternatively, we could use a pair of denim jeans for the stronger, sturdier fabric. My husband's stepdad suggested we use Liam's overalls! 

 You can see how ready he is to take off running! 

We certainly feel our trip was worthwhile. Liam was evaluated by doctors and therapists specializing in Arthrogryposis. They took one look at him and knew everything about him and his needs before they examined his joints and body. This is what they do and they are exceptional at it. They would like to continue seeing Liam for treatment and future surgeries to loosen the tendons in his elbows and wrists. They also asked us to consider returning for therapy services on top of his existing therapy services. They see what we see in Liam. Hope for his Arthrogryposis.

However, we do not currently have out of network coverage with our health insurance and continuing treatment with these specialists is beyond what we can currently afford. We are discussing strategies and options at this point and are open to suggestions. We ask that you continue to keep us in your thoughts and prayers. Thank you all again.

Pending Breakthroughs

I realize it has been a long time since I've posted any updates and it hasn't been for any lack of progress in Liam's developing independence. He has been busy these last few months as we set the course for his next milestone breakthroughs. In September, his therapy sessions were renewed as per a bi-annual evaluation requirement. Last month, he was measured and fitted for a new supine stander which will be customized for his unique needs. 

However, Liam has been showing a lot of determination to learn to stand on his own two feet. He really wants to take off running especially when he sees other kids close to his age taking off. I decided to put together a little riding toy to see if it would encourage him get used to the idea of using his legs. It came with rockers to attach to the wheels to start off as a rocking toy, but Liam didn't care for that function. So I took off the rockers and here is the result. 

Now, even his Physical Therapist questions whether he will even need the customized stander by the time it arrives. Even during therapy sessions when she stands him on his feet, he no longer resists and instead continues to instinctively push down into his feet increasingly bearing more of his own weight through his legs. 

Practice standing in Physical Therapy (look at his arm bending!)

To further add to the topic of Liam's independence, we are also seeing much more use in his hands and arms. He has even started to bend his right elbow independently! In response to this breakthrough, his Occupational Therapist has spent the last few weeks designing a customized splint to fit to his elbow to encourage him to use it more. She has also taken one of his feeding spoons and creatively applied a combination of weather stripping from the hardware store, a tongue depressor, and electrical tape to fatten up the grip and lengthen the handle so that Liam can attempt to feed himself. For now, we are working on getting him accustomed to the elbow splint so that he can get more range in his elbow before we tackle the self-feeding obstacle.

Bending his elbow! (He's only crying because he was cranky. He gets this range in his elbow by himself).

Customized elbow splint.

Playing with the splint on.

What's New?

You're all familiar with the saying "no news is good news," right? This certainly applies to Liam currently. Next week, we return for a routine check-up with his orthopedic doctor for the first time in 4 months! Why the exclamation? Well, it's pretty exciting that we have not needed to see this specialist for so long, considering the first 8 months of Liam's life meant weekly visits for cast changes and two separate surgical procedures to his ankles. We are all certainly blessed!

Liam isn't walking or standing on his own yet and we are still working on his mastering sitting upright unsupported. However, the stander, mentioned in the last post, has worked wonders in strengthening the muscles that will help him to stand.

Initially during therapy, Liam's physical therapist would stand him up supported against a couch or ottoman and try to help him strengthen his leg muscles in that way, but Liam would just scream and cry. After three 15-minute sessions in the stander, we tried standing him up against the ottoman again and he instinctively pressed his heels into the ground and stood (with support) tall and proud as though this was what he was born to do. The stander has also helped him to enjoy his ExerSaucer more than ever, giving him more strength in his knees and ankles to bounce around.

Also, so as not to leave anything out, Liam's arms and hands are still making good progress. He uses them more than ever to play with his toys and reach for things that catch his interest. Lately we've noticed him bending his elbows when he presses his hands against our arms. Where there's a will, there's a way!

Making Steps Toward the First Step

Our big boy turned one this month. Though I wrote a letter to him for his first birthday expressing my pride in him, I still find it difficult to sufficiently put it into words. He is a hard worker. He doesn't like doctors and therapists messing with him and making him do things with his body that feel uncomfortable to him. But I think on some level he really does understand that he is deriving benefit from everything he has gone through because he tends to maintain a tolerance that I find myself envying.

His newest challenge is in the form of a "supine stander," which will strengthen Liam's legs and teach him to become more comfortable with standing on his own. As you may recall, his legs had been in and out of casts (Ponseti method) for the first 8 months of his life. The primary objective of the casts was to straighten out his clubbed feet. They also served to initiate mobility in his ankle and knee joints which gives long-term benefit to his arthrogryposis.

As of now, we are still struggling with Liam being able to sit up completely on his own, unsupported. Also, we don't expect him to learn to crawl because his knee joints are still too stiff to bend fully. Now we are teaching him to stand, using the stander, hoping he will someday take the initiative to stand on his own; and eventually take his first step. Seeing how well he tolerates the stander, I believe we are well on our way in the right direction.

Pool Therapy

It's hard to think of anything more relaxing than going swimming on a hot summery day. That is what Liam did over the past weekend for the first time and he loved it! We have a little float for him to recline in and go with the flow. He was kicking his legs to paddle himself along and even started smacking the water with his hands to cause little splashes in the water, all while shrieking in excitement and laughter. It's safe to say I know what where Liam will be spending a lot of time this summer!

 I can't get enough of these pictures of Liam in the pool, so I have been sharing them for all to see this amazing boy enjoying the pool. Over the summer, we plan for his therapists to do their work with him in a wading pool. The water does wonders on his joints. He doesn't get upset or fussy when we work his muscles in the water. It also certainly helps him sleep good!

Work and Play

It seems we are always looking for new ways to help Liam increase mobility in his muscles and joints. Well, it turns out, that over the course of the last few weeks, Liam has shown us a thing or two in what works best for him. When his physical therapist introduced him to a toy that he can activate by sitting and pressing a button, he was thrilled and shrieked in excitement.

Overnight, he seemed to be sitting up so much better on his own. Keep in mind, that though he is 10 months old, he is still struggling even with prop sitting. This is due to the awkward positioning of many months worth of castings on both of his legs. He has not been able to work to this milestone without a major obstacle. In the meantime, we have worked on other milestones, such as rolling front to back and back to front which he has mastered.

Most recently, we have been trying to find a way for Liam to effectively play with his toy laptop computer. It has these wonderful buttons that he loves to press. However, the restrictions in his elbows, wrists and shoulders prevent him from controlling the toy. Then I remembered we have a little stool that converts to a little chair. We use it as a makeshift desk for his little computer. Now, for the first time, he is motivated to press the buttons with his individual fingers rather than the flat side of his hand.

Can't you see I'm working here, Mom?

This little guy is going to be a computer whiz like his Dad!

We are also seeing a lot of increased range and mobility in his shoulders. We can lift his arms pretty high and open them up pretty wide. But the distance he can stretch himself is a different story as he is challenged by the shortened tendons in his joints. But as he continues to explore his environment and play with his toys, the tendons stretch and loosen and create less of a challenge each day. Also, of course, aggressive therapy plays a major role in his continued success.

Playtime and Other Things

Just as the last several months, this past month has flown and now we are few days away from Liam's 10th month birthday! I have been witness to a steady increase in his alertness and perception of his surroundings. In therapy, Liam has been introduced to toys that create a "cause and effect" scenario. For example, when he presses a button or a switch, the toy will make a loud cheerful sound or release another toy such as a ball. His success in activating such toys is lately met with a delighted screech. It's so unexpected, I haven't been able to catch it on video yet.

Further to Liam's success with his toys is that he is even more motivated to learn to sit upright unsupported. This is also somewhat unexpected. After many months of castings on both of his legs, we expected Liam to be further behind schedule in this milestone. In this, he is proving to be an overachiever and in a good way!

And speaking of milestones, we have accepted that Liam will likely learn to walk without ever crawling due to the restrictions in his elbow and shoulder joints. However, he is rolling around all over the place. So we now have a large play mat for him to roll all over to his heart's content. He loves it!

As a last note regarding toys, he particularly favors any that he can easily get a grip with his hands as pictured
below. His favorite is a rubber ball with holes all around it so he can hold on to it and move with it. It provides an incredible stretch to his fingers, hands, wrists, elbows and shoulders that he does all by himself! So, to any others out there who know children with arthrogryposis in the upper extremities: this toy should be high on your list!

Adaptations

It's hard to believe that in just a few days, Liam will be 9 months old already! Time has flown by so fast and this little boy is growing even faster. He is as fun and as motivated as ever. What a joy to have around! Also, Liam's orthopedist and his Occupational Therapist have said that every one of the arthrogrypotic patients they have worked with have been exceptionally bright and quite distinctly so. We can already see that Liam is very smart too. He had started to say "mama" and "dada" at barely 8 months old! What an incredible guy!

One of my goals is to give Liam the gift of independence. It became easy for me to see now how much we take our independence for granted once I realized that Liam may not even be able to feed himself for several years to come unless we take the necessary steps to facilitate self-care. I have asked his therapists to help me brainstorm ways that we can adapt his feedings so that I can start teaching him how to hold his own bottles and eventually to bring his own spoon to his mouth. He may seem a little young for doing all of that now, but now is the time for him to start learning. 

The challenge that Liam is facing is that his elbow joints are still too tight that they do not fully bend yet. They are getting looser, thanks to the daily massages and regular aggressive therapy he has been receiving. And while we haven't thought up any major adaptations yet, we have figured out how to prop his bottle in such a way that he can hold onto it while giving his fingers, thumbs and wrists the mild stretch that they regularly need. He really enjoys it!

Play Time

One of the many challenges for an infant with any kind of restrictive muscular disease is finding motivation to explore the world around them. Fortunately, Liam has been very motivated since birth to seek and explore his environment. In the beginning, my husband and I were instructed to give Liam therapy in his hands, arms and shoulders during feedings to loosen up the tightness in his muscles and his joints. Regular therapy sessions have instructed us on different approaches to take to maximize his range of motion. 

It has been one of our goals to teach Liam how to move and play independently, therefore providing himself with therapy while having fun with it. As he gets older (he is now 8 1/2 months old), he becomes more alert and aware of everything around him and what he wants to do with it. No matter the obstacle, if he wants to do something, he will find a way to do it. An obstacle he faces right now is his special boots with the Ponseti bar. But even with this device on, he plays and moves. Currently, his favorite mode of transportation is rolling over onto his belly and continuing onto his back, repeatedly. In a blink of an eye, he is across the living room moving this way, Ponseti bar and all!

Road to Progress: Part Three - Success!

Liam is 8 months old today. And to celebrate, his casts were removed for good! I know this is a much anticipated update. Believe me, I've been anxious to reach this point too! Liam's surgery has been a great success and now I can give the update of updates the occasion warrants. First of all, let me preface by saying this has been a difficult journey and we are certainly blessed with a strong and motivated little boy.

Day of Birth

We are also blessed with the love, support, prayers and encouragement of many and for that we are eternally grateful. We thank God for all of you and for giving us this wonderful baby boy. We are greatly thankful for the expertise and care Liam has received from his orthopedists, nurses and his therapists. If not for the technology and treatment available  today, Liam would not be where he is now.

Day of Birth

Where is he now? Free of the burden of any further surgeries. That's right. His orthopedic doctor confirmed that given the progress that Liam is showing through his treatment and therapies, he does not see any need to intervene any further with surgery!

Waiting for final cast removal

Waiting for final cast removal

So here we are, 3 1/2 weeks after his last Achilles tendon lengthening procedure, patiently waiting for the last casts to come off. These heavy things (probably about 1 lb each) had been on his legs since immediately following his surgery. He is very strong!

Immediately after cast removal

Liam's doctor successfully achieved the 90 degree angle he was aimimg for with this last surgery. Going into the surgery, the doctor thought he might need to insert pins in Liam's heels to help with the lengthening. If that would have been the case, then Liam would have needed to be placed under  anesthesia again. After the rough recovery he endured from his surgery, I am thankful this step was not necessary.

Enjoying his new freedom

We may have reached a break, but the journey is ongoing. Liam will need to wear special boots with a  Ponseti bar between them to maintain the new angle in his foot. We are instructed to keep his feet in the boots for 14 hours a day, most of which should be at night while he sleeps. This is expected for at least 6 weeks at which point his doctor will determine if we should continue with the boots.

Boots with Ponseti bar

Benefits of Therapy

When he was just two days old in the NICU, Liam received his first therapy session. The therapist worked very carefully on his tiny, yet exceptionally tight, hands and arms while teaching my husband and me the importance of spending 5 minutes several times a day giving his arms and hands very gentle therapy. She instructed us that it was best to perform these little sessions during feedings so that he was distracted from any discomfort he may experience. He could not move his own arms and shoulders at all. His fingers did not open from their tight fist position. When we tried stretching his arms at the shoulder joint, they would barely lift more than 15 degrees away from his body. Because of therapy, both through our efforts and through the efforts of professional therapists, Liam has come a long way in these 6 months.

Routine therapy has taught Liam how to play independently and has taught us as his parents how to play with him so that his joints may continue to loosen. In my last post, I uploaded a short video of Liam playing with a spoon. None of my family, even my husband, had seen him do that before I posted it to this blog. That is an example of the multitude of daily victories we are rewarded through persistence. Liam is so motivated by his therapy sessions that he spends the rest of the day trying to accomplish a new obstacle he was shown. We reward him by cheering him on, showing him how thrilled we are with each new development. He is an amazing child.

A Modified Approach

Modified belly time

In addition to the serial castings that Liam receives in effort to increase mobility in the joints of his legs, he must also receive aggressive therapy not only to work the joints in his upper extremities, but also to help him reach major milestones that are expected of all infants his age. His joint restrictions make meeting certain milestones more difficult, such as the ever important belly time.

We have had to make several modifications to help him achieve such milestones and while he may not entirely achieve them in the average time window of most infants, his milestones are certainly emerging through the efforts in his therapy sessions. Because of the joint restrictions in his arms, Liam cannot raise his arms over his head or even very far out to the sides of his body (such as in a wingspan motion). But one thing I have learned on our journey so far is that if a baby wants to do something (and Liam is no exception), then that baby will do it. Even though I don't need reminding that he is a normal baby, he does seem determined to remind us that he is just as motivated to learn to function as though there are no restrictions to his movement. In short, Liam is driven to succeed, no matter the obstacle.

Below is a video demonstrating the restrictions in the joints of Liam's arms. He cannot bend his elbows as the tendons are so short, they do not bend at all.

Road to Progress: Part Two

It's needless to say that new parenthood coupled with a rare congenital disease presents lots of learning opportunities. One of the things we have learned is the value of care providers that have experience with the special needs of your child. It was difficult for us in the beginning to find doctors and therapists that even knew how to spell arthrogryposis, let alone work with an infant who was born with it.

Result of 3 months serial casting (feet and legs formerly twisted inward)

Even before Liam was born, we were blessed to be acquainted with a pediatrician who had heard of the disease and knew exactly how to approach it: with aggressive therapy. And while the orthopedist that put casts on Liam's legs from the day he was born is one of the best in his field, this was his first arthrogrypotic patient. His method of serial casting and his procedure to Liam's Achilles tendons were indeed effective, but we knew Liam needed more to achieve the breakthrough he needed to be able to bend his knees and ankles (we were advised even aggressive therapy could not achieve this alone).

First nap on his belly

In the interim of changing orthopedists, Liam was able to enjoy a couple of months of freedom without casts on his legs, during which he got to enjoy real baths as opposed to sponge baths and even learned to sleep comfortably on his tummy (which is made difficult by the awkward positioning of casts on his legs). Now that he is in the care of an orthopedist with background specialty in joint disease, he is back in casts - this time made of hard plaster. Just as the former serial casting he had gone through before, these casts are changed once a week. As of today, he will have two more cast changes and sometime during the end of this month, will have another procedure to further release and stretch his Achilles tendons. His procedure will take place at NYU Langone Hospital for Joint Diseases, where patients with joint diseases from all over the world are treated.

Most recent cast change 1-31-13

First set of casts with new orthopedist

Let's Get Technical

Arthrogryposis

So what is arthrogryposis, anyway? Well technically, it is called arthrogryposis multiplex congenita (AMC for short). It is defined as a non-progressive, congenital disease referring to multiple joint contractures and muscle weakness. The most common form of which, as in Liam's case, is amyoplasia, a lack of muscular development and growth, showing deformity and contractures at most joints. As I posted in Liam's story, in layman's terms, it means his joints are abnormally stiff and lots of therapy and possibly numerous surgeries will be required to make them not so stiff.

The exact cause for arthrogryposis is largely unknown. There are a number of theories, but the doctors involved in Liam's treatment have not been able to match his case with any of them. My pregnancy was perfect as far as my doctor could tell and there have been no genetic instances of contractures in the past except for the occasional instance of the more common clubbed foot.

There is a theory that suggests that at about the 8th or 9th day of gestation, there is a crucial development phase in which the nerves fuse with the muscles in the fetus. And during this phase, the fetus should be mobile in the womb. If the fetus, for some reason, remains immobile, then the result could be arthrogryposis. This is the theory that we have heard in Liam's case, though no one is entirely certain. Whatever the cause may be, we have been and will continue to do everything we can for Liam to be fully ambulatory without the need or support of devices.