My name is Jessica Hucks and I live in country SA. I have three boys aged 5 months through to 5 years. My youngest and eldest sons have been diagnosed with SMA type 3. We had diagnosis over two years ago with our eldest and most recently our new baby was diagnosed before birth. I find strength in reading other peoples stories as I hope others find in mine!
This is my story.
The day our lives changed forever.
It was a overcast morning nothing too unusual about the day when i went into hospital to be induced for my first pregnancy. I was 39 weeks pregnant but my blood pressure was a little high so the decision was made for me to be induced. Tim and i packed a few things and went to the hospital. I was given my first set of gels and induced on a monday morning around 8ish. The day passed by and little happened. All our close family were making arrangements to make their way to Loxton. That night by 6ish I still had not dilated at all and was still at 2cm so the decision was made to give me my second set of gels for induction. By the following morning again there was no change so Dr Tait decided to break my waters. What an interesting experience that was. I began having contractions, only very small, throughout that day but i only dialated to 3cm and the Dr said that was being generous! So at 8pm on the Tuesday night I was put on the oxytocin machine to try and increase my contractions. Initially it was two hours but by 10pm still no increase. Let’s give it another two hours and see what happens they said. By 11pm I was over it! It was decided that we would do an emergency C- Section. They began by putting in my spinal block and that seemed to go ok. However once they began cutting I felt as though it wasn’t quite right. I could feel pain and not a sensation actual pain. I began to scream and by now I think they knew things weren’t quite right and the spinal block had failed. I was then put under a general anesthetic. Tyler was born at 1:10am on Wednesday the 5th of March 2009. Tyler’s birthweight was 3560g, measuring 53cm in length and a head circumference of 35 cm all very normal. Tyler was exclusively breast fed till 12 months when I decided that was enough. He sat up at 5months, crawled by 8 months, walked by 13 months and had his first words by 1 year of age. He began eating solids by 5 months and everything seemed to be developmentally normal up till approx 2 years when I began to notice he wasn’t quite right physically. I noticed more falls, he struggled to jump and gain any pace when running. He began to rely heavily on his hips and his legs seem to come around his body rather than up and down. He has very poor balance and when jumping off things he couldn’t land on his feet. He tended to sit in the W position a lot and stated tip toeing a lot after turning 2. He was completely toilet trained by 2 and a half. His coordination to me seemed more than age appropriate. He could catch and throw a ball, kick a footy and he could also hit a golf ball with a golf stick quite well. However when he would walk, run or jump he struggled. He didn’t look quite the same as his peers and i knew in my mind that something was not quite right. I remember thinking this around his second birthday and decided i needed to get him checked out by some professionals.
At this staged I believed his cognitive development, fine motor and speech to be completely normal if not a bit above the norm. He spoke very clearly from a very young age and by three had a very large word bank. His memory also seemed to be very good and his behaviour was always very good. He has never showed any nasty, mean or inappropriate behaviours and is quite a lovely well mannered child.
At the age of around 1 and a half I took him to see a naturopath to see if she could help with his increasing anxiety and his sleeping patterns. It’s funny at this time she told me that he had very sore legs and I thought nothing of it other than the falls increasing. She gave us some natural products to assist with his anxiety, however we didn’t use them for long because he seemed to calm right down.
By the age of 2 years 2 months I took him to see two local physiotherapists who told me he was showing no signs out of the ordinary. I took him to a podiatrist just after who also said he was walking normally. Still things didn’t sit right with me so I then got a referral to see a physio who works with children from the kids health team in Berri. This referral took 2 months. We met Lauren one afternoon at the local hospital. She assessed Tyler by looking at his development, getting off the floor, running, climbing and catching. From this she agreed something wasn’t quite right. We finally had someone taking notice that my little man wasn’t quite right. Lauren then referred us to a visiting pediatrician. This referral took 4 months. Before going I had looked at many things and diagnosed Tyler as having low muscle tone or hypotonia. None of these nasty things even came up in my searches for Tyler’s problems.
We finally got in to see Dr David Thomas on the 9th of March 2012. He examined Tyler for about 20 minutes and then wrote on a piece of paper Muscular Dystrophy. Now I had no reaction at this time because I had never heard of this before and no idea what this was. We were sent to have bloods taken. We sat in the nurses station for over an hour waiting for the IMVS lady to return from seeing a patient a their home. Finally they realised that she was going to take too long and decided to get Dr David Thomas’s registrar to take the blood. She was so bloody terrible. I remember her saying too him in quite a stern voice ‘stop that, I’m just looking at where we can get the blood out’, whilst she was bending his wrist. I felt like saying hang on a minute, this poor little boy has been sitting here for over an hour and your yelling at him, don’t think so!
So we came home from the Drs I looked it up straight away and was absolutely devastated. I could not believe what I was reading. It was telling me that in his age group he could only fall in the category of Ducheens Muscular Dystrophy, or perhaps Becker Muscular Dystrophy but it was unlikely. My understanding of this was wheelchair bound by 8-12 and fatal by 20 years of age.
Believe it or not it took longer than a week for me to hear from anybody. Nothing until I rang to get an answer and finally there were some results. Tyler’s ck level came back as 225, at this stage i had no idea what this meant, so again i went researching. It was a little higher than normal which is 70-150. This got me worried. Finally I decided to ring Dr David Thomas and get his opinion. He explained to me that in order for it to be Duchenne MD he would need a result in the 10,000’s and Becker MD in the 1000’s. What a relief this was!
But how incompetent of these Dr’s to tell a family their son has DMD and not make contact for over a week……in this time I was not sleeping a took a week off work, I cried all the time. Every time Tyler fell to the floor or tried to run my heart sank. This was truly the worst feeling I had ever experienced in my life. It took a few days before Tim broke down and we finally started to consider how our lives were about to change. All this unnecessary heartache and tears. It just makes me wonder how many other people they do this too!
We were then referred to a pediatric neurologist at women’s and children’s hospital in Adelaide. This referral didn’t take to long cause it was quite urgent that we needed to work out what was happening to Tyler. An appointment was made and we first visited for an initial consult with Dr Damian Clarke. He examined him and said it really looks like DMD. Again my heart sank. However after running further physical tests he said that it couldn’t possibly be because he showed so much strength everywhere else. He became quite puzzled as Tyler showed only a loss of strength in a selected area around his upper legs and hips. His face and arms were not affected in any way. He suggested we do a nerve conduction and EMG. So we went straight to dat surgery and did it. Tyler was under sedation whist the test was conducted although he seemed quite aware of what was happening. He screened each time the needle was inserted but it was giving the Dr really valid information. This test concluded that it was not in fact muscles that were affected but perhaps a nerve problem between the L2-L4. Dr Clark said this was possible good news or better news. I asked what does this leave us with. He suggested that it could be a tumor of the spine that is treatable or perhaps even an auto immune disease of some kind. Both these things not being genetic so of course we were thrilled for Samuels sake. We returned home for a brief period of time but were soon contacted as a spot became available for an MRI. We all returned to Adelaide and went to the hospital. Tyler’s was totally unaware of what was happening only that the big building where Dr Clarke lives will make his legs better. We went to the day surgery unit, and this place I must say was magnificent. The set up was incredible, as it would need to be. There were toys, cars, televisions, art and craft and all sorts that the children could do. It needed to run like clock work and it did. We were one of the first in so that made our wait not too long. Tyler put some strawberry flavored lip smack stuff on the gas mask and put it over his face. He got a little upset but was asleep before he could cry. He went all limp but I remember his toes curling up and going very stiff. Then we left. Tim and I went to grab some lunch but it was hard not to imagine what our little man was going through. We returned to the day unit, where Tyler would come when he woke in recovery. He was in there for over two hours, we began to worry. Then finally we got word that he was coming. They said he woke very well and was such a brave little soldier. Tim had to leave soon after to return for work the next day. I waited for Dr Damian Clarke to come and tell me the results. One and a half hours later he came to tell me that the MRI was all clear but he wanted us to stay in for the night so we could do a lumber puncture the following day. Tyler was great he was happy to have a sleep over at the hospital. He got to meet a little girl in the bed next to us and he enjoyed playing with her. He kept calling her the baby, unfortunately she was 2 years of age but so undernourished and little that she wasn’t even crawling yet. We shared a room with two other children, so we didn’t get much sleep. They also keep the place so bright that I found it very difficult to even close my eyes. Terrible actually. The next morning we were told that he would have a lumber puncture about 12ish, and a visit from a physiotherapist at the hospital. She came around 9 and had a very brief look at Tyler. Later I was told that she again thought it was DMD but also thought it could be SMA.
We decided to go for a ride in the lifts and go look around the hospital. We found a playground and Tyler had lots of fun playing with the other children. We returned to our room where a group of medical students were waiting to observe Tyler and ask me a few questions. It was interesting to hear their points of view so I didn’t mind much. Then the nurses came in to give Tyler his sedation medicine. He was so good he just took it like a pro. It began to work after about half hour so we went down to the little surgery room on our ward. This was a bit hard to stomach as they rolled him on his side and Dr Clark got up on the bed and wrapped Tyler around him to make his spine accessible for the registrar to insert the needle. Tyler was distressed and I had to get down on my knees, holding his hands and reassuring him it would soon be over. Again he proved how brave he was. We returned to our room and Tyler fell asleep. We had visits from more medical students that afternoon but they weren’t able to see Tyler move around or walk cause he was still asleep. Finally at 5pm that evening we were told that the lumber puncture results had come back and again were all clear. We were told that we could go home and i would get a phone call about what we were going to do next.
A week or so later I received a phone call from Dr Clark to say that he was still a little confused. He said Tyler has a progressive neuropathy, for which we do not have a good explanation. The options are inherited (SMA/CMT/HMN…) or inflammatory/acquired (CIDP). If the SMA testing is negative, then the chance of a hit on other testing is very low.
Whilst he does not fulfil the criteria for CIDP, nothing else is really treatable. He also said that if the testing for SMA comes back negative, then he will send some DNA to Melbourne for TRPV4 testing.
He said that diagnosis is tough for these focal neuropathies. Tyler doesn’t fit the typical pattern for charcot marie tooth disease (motor and sensory neuropathy). There are a number of distal hereditary motor neuropathies, but there are heaps of genes involved, and his pattern isn’t really consistent either. He said he was checking for a weird presentation of standard SMA and there are some rare “non-4q” versions of SMA, which usually present with an unusual pattern of weakness. For most of these, no gene has been identified yet. The exception being TRPV4, which can be associated with one of the “scapuloperoneal” forms of SMA however he didnt believe Tyler has this either.
Dr Clark suggested that we plan for immunoglobulin trial for after we get the SMA test back, even though he didnt have a lot of evidence for CIDP. I was a bit concerned about an IVig and that I wondered why we would risk doing this when we weren’t entirely sure what we were dealing with. I found this information about it. IVIg is a blood product, so carries a small risk of some blood borne disease which hasn’t been identified yet. Occasionally patients get flu like symptoms as the infusion is going, which usually settle. Occasionally they can get an aseptic meningitis- This is described, but most have never seen it. It does not require any treatment, and settles after a few days to a week. I wasn’t keen for this to occur. I asked about steroids being another possibility if it were diagnosed as CIDP. The doctor didn’t see it as being very useful and made it clear that there are many side affects including behavioural problems and weight gain.
After these conversations via phone and email it was on the 10th of May (our 4 year wedding anniversary) that I received a phone call to confirm a diagnosis. Dr Damian Clarke rang at 8:15 to say that Tyler has SMA. He had to be a type 3 because he can walk.
My initial feeling was heartache and heartbreak for Tyler, his life would now be far from normal and this made me just feel empty and at a loss to help my little man. No cure is something I did not want to hear.
Since diagnosis we have since made a contact visit with NOVITA who assist children with a physical disability and their families. This was helpful as they explained and clarified many of those questions that I had. We also went to Rehab in Adelaide at WCH. This was not as helpful as I had hoped. We sat with a registrar who checked Tyler’s calf muscles and checked his reflexes but that was all. In the last 10 minutes of our visit we finally got to see an orthopedic pediatrician. His name was Dr James Rice and he actually made me change my perception of Tyler’s condition. I, for some silly reason, had in my mind that a wheelchair meant the loss of sensation for Tyler. Soooo wrong!!! And for an educated person quite unacceptable. Tyler will always be able to feel his legs, and will have bladder control and sexual function for the term of his life, two huge positives. Also driving a car; for some utterly silly reason I thought this luxury may be taken from him but no!! He may need some adaptations but we are not sure at this time how it will effect Tyler. Things that will be slightly different from the norm will be his choice of career, he will never be a labourer! He will need to use his brains but at this stage I don’t see this as any problem as he is a bright little fellow. The next is that he may never be a superstar athlete in sports such as football, but he could however excel in swimming or golf.
Something that I am struggling with is Tyler’s ability to have children. So in my head I feel horrible that I have started this horrible cycle for my children and possibly my grandchildren 🙁 This along with a few other little things are entering my head each day and making me cry and become emotional. Being a teacher I see all these children who are physically able to do all these amazing things with their bodies and I don’t think Tyler will ever be able to do them. It does upset am and make me sad. Children are very mean to each other and being different in anyway does cause questions in the minds of other children.
It is likely that Tyler will need the assistance of a wheelchair by late high school. This could change due to his strange presentation as the Dr believes he may have some kind of segmental SMA. He has reflexes in his ankles and all his upper body. They are only absent in his knees. We have been told that most SMA children have no reflexes, so very strange. The Drs. are also amazed by his upper body strength. He should have some kind of weakness here, yet he doesn’t??? His spine is still very straight so that is also good news.
Dr Damian Clark also looked at Samuel today and found reflexes in his knees. Fantastic news right?? To follow this I asked would Tyler have had these reflexes prior to showing SMA signs, and he couldn’t answer me. So no it didn’t really prove much. We just need to keep watching Samuel and if we notice anything they will do the blood test on him. Until that time apparently it is inappropriate and we, as parents, have no right to make the choice of being tested for him, what a load of shit!!! Anyway right now I don’t think I want to know, just need to absorb what we have been told and support my little munchkin the best possible way I can. My love for Tyler and Samuel is beyond words and the pain I feel for Tyler and maybe Samuel is hurting now and will for a much longer time. Sadness comes over me and I wonder what I did so bad that someone or something would choose to punish and hurt my son like this. He has done nothing wrong is his beautiful short three years, so why? He doesn’t deserve this struggle, no one does. Please someone try and fix this, I need a miracle badly for my sweet little man.
This was all written close to two years age and since then we have had our second child with SMA. My son Jordan was born in February this year. We thought we would have three children and always thought this would complete our family. We chose to have him tested in the womb and held high hopes that all would be ok. It was a 1 in 4 chance and we already had our special 1. After 3 tiring trips to Adelaide I was finally able to have the procedure however it brought news that we didn’t want to hear. Our son would have SMA and had three copies of the SMN2 gene, which was similar to that of Tyler. Tyler was coping well, really well and we were delighted with his progress and development. We were unsure of how to proceed but there was no way we were going to terminate our little boy who at this adage was close to 20 weeks gestation. We had to consider that this child would be like Tyler, well close to Tyler.
Jordan is now 5 months old and is showing very promising signs. He is trying to sit, has rolled over a couple of times and tries hard to bring his legs up. We have also been thrown another curve ball because at Tyler’s most recent specialist appointment The doctor tested Jordan’s reflexes and his were present. Still the doctors can’t tell me what this means. Are these reflexes present before onset of disease or should they never have them???
I know we have a very long road ahead but I wouldn’t change a thing. I have three precious boys whom I love dearly and there are so many others who are touched by this horrible thing called SMA which three years ago I knew nothing about. Some people have positive journeys and others are not so good. I know that when Jordan has his first fall or begins to show signs of SMA my heart will break as it does and will continue to many, many more times. My mind is easing and I am finding my way through this. We have Tyler, Samuel and Jordan now and for a lifetime. I must treasure this. We can share so many things together and as a family we will overcome and triumph this terrible disease.