Time to tell

Part of my job at work is working in our Neuromuscular clinic, there we see many young boys who have been diagnosed with Muscular Dystrophy. This dreadful disease causes a progressive deterioration of their muscles leading them to an early death. We often discuss with the families how and when to tell their child about their diagnosis; some parents handle this awful task bravely and some avoid it at all lengths leaving these smart boys to find out on their own. Sitting in on these discussions I thought about the talk I haven't had with Elizabeth.

It took a couple of weeks to initiate it and each time I thought about doing it I felt sick to my stomach and then I would remind myself that other families have to give such tragic news to their children.

One day while putting on her AFO's she asked why she and her fiance (yep still engaged to her little friend who also has CP) needed to wear them. So impromptly the discussion began; I explained how she was so tiny and fragile when she was born and how hard she fought to stay strong and come home. Then I explained just like the scars she has on her body she has one in her brain that we can't see but that scar causes her muscles to be weak and her balance to be off. I explained this is called brain damage, it won't get worse but will always cause her to have difficulties with her walking. This whole discussion I am trying not to let her see me cry as it kills me that we even have to talk about this.

Elizabeth is satisfied with what we talked about and even during breakfast blamed her brain damage for some spill she caused. She often now will ask about her other friends with CP and if they were baby birds too. For now I just reply that yes they have a scar in their brain too.

On the Bench

As Elizabeth is doing better at gymnastics and has a young fearless coach I now get to sit on the bench with the other parents and watch (at the edge of my seat). Usually I had joined her and helped her as needed. As I sit on the bench I get to watch other kids and listen to their parents.
I am sure other parents of children with disabilities agree that they often feel very conscious of what others think about their children. I am very aware of when others stare at her or make comments about her. I see how some parents roll their eyes when she takes longer and causes the other kids to wait their turn. I am aware of the complaints to the staff regarding Elizabeth being in their child's class but fortunately for us their 'fair play' rules allow Elizabeth to participate with her peers. I see the kids rush to get in front of her so they don't have to wait and I have even seen a child step over her when she has fallen down just so she could ahead of her.
What I was not prepared for at her last class was to sit by a Grandfather who did not know Elizabeth was my daughter and listen how he was describing to his son a little girl with 'determination, spunk and perseverance' he remarked over and over again how much she improved over the past couple of weeks. He noticed me giving her a thumbs up and asked if I was her mother. Trying to fight tears I told him she was my daughter and thank you for seeing her how we do; determined, spunky and a girl who tries hard in everything she does.
Check out the clip below, she wowed us with walking along the wide balance beam and stepping over obstacles while in her Superwoman suit.

I was approached by a colleague at work who had just finished a course from Cascades. As part of the course my colleague would receive a free pair of AFO's and she thought Elizabeth would be great to try them. I have been looking at these AFO's for awhile but did not want to invest money buying something that we have not tried.
Elizabeth was fitted for the Cascade Jump Start Bunny orthotics, these ones help to minimize knee hyperextension and keep her foot in proper alignment. We really want to work on Elizabeth's strength and increase her muscle mass to her lower legs and her old AFO's do not allow her to do this.
The bunny's have been great and she really likes them. They do limit her knee extension when she stands and they allow her to sit more comfortable on the floor which is great for school. The bunny's also help keep her feet from dropping when she rides her bike. She still needs the support of her regular AFO's for playing outside and walking distances as she will complain of knee pain at night if she wears them when she is active. We are hoping with her new phsyiotherapy block she will get some increased strength and be able to wear her bunny's when she is active too.

We will take option 'No'

What I despise the most in the summer is going for all Elizabeth's medical appointments. I absolutely hate spending a summer day sitting in dirty hospital waiting rooms trying to keep her occupied (as above we were playing playdough that I had stashed in my purse) and fighting hours of traffic to get in and out of Toronto. Elizabeth continues to puzzle and baffle every Doctor we meet with her varying symptoms. This summer we have seen some of her regular Doctors and also some new ones each one mystified by this 'very interesting and bright child'. As her Movement Disorder Specialist is away we met with the Doctor who trained her. I thought Dr. L in in his endless years of working may give us a glimpse as to what her diagnosis is. Dr. L. was interested in how she moves and specifically how she gets up to standing (think beginning walker on both feet and then pushing up with her hands). He feels she has both Dystonia and Ataxia but is not sure why, he does not feel this is related to prematurity. He was honest in stating that there was nothing than can be done for Ataxia presently and at least he was not too favorable of deep brain stimulation. The only options left for diagnosing were muscle biopsy and cerebral spinal fluid testing, we opted 'no thanks'. We also have seen the Geneticist who once again found Elizabeth's symptoms puzzling and does not feel her balance issues relate to prematurity. Her options; more blood for DNA testing and repeat Friedrich's Ataxia testing (this will be her 3rd time being tested) to rule out a rarer form. She also questioned whether Elizabeth has Perrault syndrome but this cannot be tested presently so we would need to wait until she hits (or doesn't due to the syndrome) puberty. We once again opted for 'no thanks'. Both Dr's think that her hearing impairment (Auditory Neuropathy) may be a key to her diagnosis as it is recently being linked with many disorders.
We feel all this invasive testing at the present is not fair to Elizabeth. A diagnosis of a rare syndrome will not change who she is or what we are doing for her and the search to find out why she is the way she is would just add extra stress on her and us. Her Neurologist was not too happy with our decision and said it could impact her children but Elizabeth has lots of time to decide what she wants done with her body until then we will stick up for her.
We of course tomorrow need to get up at the crack of dawn to see her Audiologist and the ENT, I hope it is rainy so we won't be cooped up on one our few summer days we have left.

Dance Recital

Elizabeth had her end of year dance recital in her adaptive dance class. The class worked so hard practicing all the steps and Elizabeth remembered the movements quite well. Elizabeth really enjoyed her dance class, her favourite thing about her dance class is the attention she gets from her helpers. Elizabeth has 2 helpers that hold each hand so she can complete the steps with their support. Her helpers are the sweetest girls who adore Elizabeth and are teaching her so much. On the night of the dress rehearsal her helpers were waiting at the door for her and presented her with a card wishing her luck and coached her though all the steps and how to present herself on stage.
I did not get to see Elizabeth perform as I was backstage to help her and supervise the class but from what I heard she did great. Hearing the thunderous clapping from the audience was proof that the whole class was inspiring.

Biting Fast

That is how Elizabeth described the pain in her knee the other night. That night was one of the worst; she was crying, gagging and screaming out 'momma they are biting fast'. It was one of the nights where the only way I can get her to settle is to rub her knee until she falls asleep (after motrin, heating pad and rubbing cream).
We did see the Orthopedic surgeon and he had ruled out a knee injury and growing pains as it is localized. The surgeon's input was 'it must be behavioral, she should not be getting that much Motrin' needless to say I was very upset after seeing him if he knew us at all he would realize that this is not behavioural and that I have gone to great lengths to ensure that this does not turn in to a behavior issue.
The reality is Elizabeth has pain that no one can really figure out and no one can really give us options to prevent this pain. Elizabeth is right now out with the neighbourhood kids and her Dad and has been out for a couple of hours which means that tonight she will be in agony. Do I bring her in to avoid her pain getting worse or do I hope that in time she will get stronger and this will get better? I can't see how this can get better as each time she grows it starts up again as she becomes more unstable and hyperextends more. It really is a vicious cycle we want her to be active but at the same time we want her comfortable. Until then we might buy shares of Motrin.

A White Lie

I did it again, a little white lie to appease one of Elizabeth's Doctors. In December we met with one of her Neurologist's and I had mentioned that Elizabeth had been having the nightly pain in her knees and that she was becoming tight in her hamstrings and rotators. We are definitely concerned with Elizabeth's new found tightness as she is more of a low tone kid and her higher tone is causing difficulty with her sitting. Because of our concerns her Dr. wanted to start a trial of Baclofen. Baclofen is most often used for children with very high tone as it is a muscle relaxant. Baclofen can have side effects of drowsiness, dizziness, vomiting and weakness. Baclofen will reduce Elizabeth's tone and would make her difficultly with walking worse and her hyperextension worse. Despite me trying explain that I did not feel this was the best option for Elizabeth she hurried us out with a script for Baclofen and I was to call in 1 month to let her know how it was working.

After having a chat with one of Elizabeth's other Dr's it was agreed Baclofen was probably not the best option for Elizabeth. So to avoid getting kicked out of the specialized clinic (we have been kicked out of a clinic before because I sought a second opinion) I told a bit of a white lie I called and said that we did try the Baclofen and it made Elizabeth worse with her balance and mood and we stopped giving it to her. I felt really bad in doing it but it is also important that we stay in the specialized clinic.

These times really make me wonder if I did not have the educational background as a Nurse for children with Developmental Disabilities where would Elizabeth be? I just think of the many families I meet who english is not their first language or the parents who do not question their children's Doctor what happens to these children? Sometimes Doctor's are on their own agenda and no matter how you try to explain your child they are not listening because of this I have to sometimes tell a white lie.

Knees

Elizabeth's poor knees they are causing her so much pain and discomfort. This has been going on for the past year and it comes in spurts but this week has been horrible for her. The pain we think is related to her hyperextending her knees with the most strain on her Rt. knee, when she walks or stands she pops back her knee for stability (as you can see in the picture of her Rt. knee). Certain activities such as bike riding, swimming, walking without AFO's, sitting in the car too long and extended walking really aggravate her pain, we try to be be careful but at the same time she needs to keep active to keep her strength. We have tried so many things to prevent her knee pain; rigid AFO's, AFO's up to her knees, a Benix knee brace, kinesiotaping, heat, Motrin (we are going through a bottle a month), massage and creams. Elizabeth during the day does not complain regularly of the pain but lately she is chewing her fingers and when asked she says her knees hurt, Elizabeth describes her pain as 'a hundred owies biting my knee'. Nighttime is the worst time for Elizabeth, she is up for hours and up frequently in the night writhing and crying. Her sleep lately is so disturbed that she is wetting the bed and during the day she is miserable. During the night we use heat, her Voltaren cream and Motrin and that lasts a couple hours and she is up again. I try not to get in the habit of sleeping with her but on some nights the only way to soothe her is by rubbing her knees. Lately we all have been miserable as we are all very sleep deprived. I talked with her Developmental Pediatrician and she was able to get us an earlier appointment with the new Orthopedic Surgeon as she is very concerned. We will see her Pediatrician for a check up this week as I just want to make sure there is nothing else I have missed and it is not a referred pain. She will also go and see the Orthotist to review her AFO's and see if there is anything else we can do to her AFO's to make her comfortable. We are also starting another block with her PT to work on strengthening to hopefully help her not put as much pressure on her knees. I so worry what it will be like for her when gets older, I see what her dystonia/ataxia/hypotonia (still waiting for a diagnosis) does to her little body now and I cringe to see what it will do to her as she ages. My last thing to try is for her to see a Chiropractor I just need to find some extra time in her busy schedule.

Gymnastics

We have come to a point with Elizabeth where physiotherapy sessions were not benefiting her as a child as a whole. Elizabeth does well at physio she does what is expected and works hard but it must be stressful for her to have to comply while being watched and coaxed by therapists. She was not being socialized with other children only to adults in her weekly phsyio. We enrolled her into gymnastics and for the past year and a half she has been thriving in gym class. In gymnastics Elizabeth is being challenged physically and she is also being socialized with other kids, she is waiting her turn, talking to other kids and getting out in the community.

Elizabeth loves gymnastics and her long time teacher loves having her in the class. I stay with Elizabeth and help her as she needs help for most things, Elizabeth is not physically able to do what the other children can do but she is mastering things on her own pace. Two of the biggest things she can now do is jump on the trampoline (she can actually lift her feet up and can jump for up to 5 consecutive jumps) this is HUGE for her. The other thing she can now do is when holding onto the uneven bars she can lift her feet to the bar, when we started she could not even bring her legs up an inch.

What I love about her current gym class is there are only 3 kids in her class and they have the gym to themselves. Distraction is still a big issue for Elizabeth and the limited kids keeps her engaged. We just have get her teacher to pay as much attention to the other kids as she does for Elizabeth as you can probably see the poor little guy in her class is bored to tears, I spend a bit of my time in the class praising the other kids as they feel a bit left out. Elizabeth still goes to biweekly physiotherapy as it is important that a trained professional keeps an eye on her and helps her progress but being in the community is just as beneficial.

Confused

These past 2 months have been extremely busy with appointments for Elizabeth and I can pretty much say not one of them has helped us at all, it has only left me more confused. We met with her Movement Disorder Specialist, a Metabolic Dr., saw her Developmental Pediatrician and her Neurologist. Most Dr's have their own opinion regarding Elizabeth and why things are so difficult for her. Her Movement Disorder Specialist stands firm that it is Dsytonia related to her Prematurity (which I would assume is Dystonic CP), the Metabolic Dr. was leaning towards a Cerebellar Disorder, her Developmental Pediatrician did notice some dsytonia on assessment and and her Neurologist feels strongly Elizabeth has a genetic Cerebellar Ataxia (not at related to her prematurity). We did go over MRI number 3 with her Neurologist and he agrees this is not a degenerative disease (we can cross off one thing) but that the atrophy of her cerebellum, basal ganglia and superior vermis is not related to prematurity. He wants us to go back to Genetics and ask her to be tested for genetic Cerebellar Ataxia's.
After meeting with her Developmental Pediatrician we agreed to Dystonia and I have accepted it as much as I can but now after meeting her Neurologist I am so confused and fed-up. We are getting near the date of when Elizabeth needs to be enrolled in school and a diagnosis is needed to get her services and support at school. I am so tired of dragging Elizabeth from hospital to hospital to see Specialists and I cannot forgive myself if I have to pin her down one more time while somebody pokes her. Elizabeth needs to be at home playing with her friends, playing with her toys, getting fresh air, eating at the table (we have so many meals in the car) and working on the areas where she has difficulty. Elizabeth should not be sitting in rush hour traffic watching her DVD's and be exposed to so many nasty hospital germs. I don't know what to do now, I will talk with her Developmental Pediatrician to see what she suggests, for now I am hiding from Genetics who have called again wanting to book us in. I will leave you with some pictures Elizabeth had taken while I was talking to her Dr., this was an especially fun day as we waited 3 hours to see this Doctor.

Done!!!

We have officially finished our Toronto block with Ramon and I think we are all relieved that it is done. Elizabeth once again was so good, she works so hard and never complains. While she is great during her therapy we can see the stress it causes on her as her anxious behaviors have crept up again; our 2 markers are hands in her mouth and her toilet paper fetish which both have have reappeared. We have lots of pictures and videos (which I need Daddy to post) but as we need pictures of the block configurations there are few of Elizabeth at work. Now we must sit down print the pictures and add them to her home program binder. Ivan and I have noticed some changes in her walking with seeing Ramon, she picks her knees up a bit more and can walk up the step at her school on her own. Once again it really is an honour to have Elizabeth work with Ramon, he truly is a remarkable and dedicated man.
Elizabeth for all her hard work enjoyed a lunch a Rainforest Cafe and a couple of new toys, I think she could have got a new car out of if she tried as were so proud of her hard work. We even this week celebrated a full day at home which is a milestone as I don't think we have had a full day at home for months lately. We tributed our day with Elizabeth's favorites; making Popsicles, playing in her sandbox, playing in the water and having a backyard picnic.

Elizabeth's Day of Colour

We are having our first fundraising day for Elizabeth. My cousin who is an extremely talented Designer has volunteered her time for Elizabeth. We have secured a venue where she will meet interested parties to answer design/colour scheme questions for your home. Wish us luck for this weekend we are hoping to get enough appointments to make use of my cousins time.

All the funds raised will go towards CME therapy sessions for Elizabeth.

An Update

I will warn you now this will be a long post but we have been pretty busy lately.
I think the best place to start is her therapeutic riding; she is doing very well and now rides a pony which is better for size. She does not fatigue as much now and can ride for longer periods holding her arms up, she still needs trunk support from 2 side walkers but she is doing well enough that she will soon learn to trot. As the weather is getting better she will be riding outside which is a nice change. Her favorite part of the morning at the barn is chasing the cats.
She is growing like a weed, she now weighs 33lbs and is 95cm. Growth is great but it is hard on her physically, she seems to grow overnight and it takes her 2-3 weeks to adjust to her height and she regresses with walking, for awhile she would not walk independently and cried if I let her hand go. Today was a good day she was more independent and she even stepped up a small step independently. Growth means new AFO's so she was casted today for a new pair, she requested ladybugs this time.
Her Developmental Paediatrician was happy with her and as Elizabeth looked at her and engaged with her the thoughts of Aspergers are now put aside (YEAH). As there is still no clear diagnosis she is referring us to see a Metabolic Doctor at Sick Kids, she is still concerned with Elizabeth's regression with growth and illness and wants a full work-up to rule out any other condition.
We saw a Genetics Doctor who was really nice and genuinely concerned. Ivan and I had a laugh as before we met her Ivan said if she asks if we are related I will pop her in the nose and of course the first question we got was 'Are you 2 related in any capacity?'. I know we both have big eyes but yuck, this question comes up with every new specialist. She has some thoughts and does not think CP. She wants to talk with her other specialists before she begins testing which was nice as she wants to avoid additional bloodwork.
Levo-Dopa medication was not for Elizabeth, she cried inconsolably even in her sleep , she was even more unbalanced, she was gaggy and began her night twitching again. We finally weaned her off it and she is much happier and less wobbly.
She had another 12 lead ECG and a 24 holter monitor and now she will be seeing a Cardiologist to review the results. I should know by now not to look at the monitor when they are doing this but I did and I got freaked out when I read the results (short PR, short QT, arrhythmia and anterior ischemia). This can mean that her heart is still irregular and getting worse or it could be that it is how it reads a child's ECG and she is fine and I panicked for no reason.
Elizabeth is becoming quite the Mommy's helper she wants to help me do everything (laundry, setting the table, cooking, cleaning) and has earned many stickers on her chore chart which she trades in for a toy. She is quite the riot and comes up with the funniest things; 'Momma where is Ivan is he coming home tonight?', 'Momma you smell like rotten eggs' (morning breath) and we are still are working on her not telling everyone with a bigger belly that they have a baby in it.
She is doing great with her CME exercises with Ivan, she happily puts her shoes on and off they go. We will be seeing Ramon at the end of the month and we will be working a new home program. It is going to be pretty crazy when Ramon is here as is he is at least an hour away but we have some weekend appointments and we have planned our work schedules around her sessions.
By mid June we will be ready for a vacation.

A New Path (It better be the right one)

We finally met with the Movement Disorder Specialist and she has sent us on another path in terms of a diagnosis for Elizabeth; dystonia. She feels Elizabeth is not Ataxic and that her movements and difficulty walking are due to dystonia. I am on the fence about the diagnosis, I do see some dystonic movements with certain activities and she seems to still have her startle reflex (when she is in a busy crowd walking is hard as she gets startled and falls), she can stiffen up when she is trying to do a difficult task and she frequently cries with leg cramps but I still see her as Ataxic. The Dr. suggests a trial of Levodopa/Carbidopa to see if her dystonia improves as there is a type of dystonia (dopa-responsive dsytonia) that is completely cured with this drug. The new medication will increase the dopamine levels in her brain and hopefully help with her movements, this medication is commonly used to treat Parkinson's. We are hopeful that this medication will at least help with her startling and making her walking more controlled if there is improvement it should be noticeable in the next week or two.

Here is a video of Elizabeth pre Levo-Dopa with Lisa one her favourite physoitherapsits. I would love to hear what other people think of her walking as I have never seen a child with Dystonia walk independanlty.

Puddles Here We Come

Elizabeth is totally excited, she can now stomp in the puddles. Every year we try to find something for Elizabeth to wear on her feet to play in the puddles and nothing fits over her AFO's. We have tried boots without her AFO's but her feet come out and she ends up socking feet in the puddles (which she enjoys even more). Elizabeth and Daddy on a Walmart expedition found her ducky boots which fit over her AFO's. Now Elizabeth can muck in the puddles as much as she likes, we just need some rain.

'That Mom'

I should be used to this by now but it still perturbs me. Everything for Elizabeth requires a fight, nothing falls easily into place, it is like we are the first ones to travel this road. Accessing services and support in the 21st century should be without major obstacles. It seems like every developmental step requires a fight to get to the next level, enrolling Elizabeth in a pre-school was beyond difficult. I hate having to be 'that Mom' but I need to be to ensure Elizabeth is receiving what she requires in terms of therapy and medical care. What is worse is I am 'that Mom' to my colleagues as well, as they are Elizabeth's therapists. I love all Elizabeth's therapists they are all great to Elizabeth but in order to ensure she receives therapy I have to call managers, leave firm voice mails and be the mom that everyone avoids. What upsets me is after I resort to these methods appointments magically appear and we are scheduled again. There is no seamless care and in our declining economic state services will continue to dwindle. Invisible borders constantly come up impeding what she needs. Our arguments have only just began with the school board regarding her 2011 start date for kindergarten and us wanting to hold her back. I hate that they already know us and we are not there yet. I do apologize to her therapists, Dr.'s, teachers and now the principle of her new school that we are causing them extra work but really this should be seamless it is 2009. It makes me tired and deprives me of sleep, a lot of sleep.

Thoughts

Lately I am always wondering what do parents of 'normal' children do. It is a question that I am always wanting to know. I try to imagine what I would do differently if Elizabeth was not given all the challenges she faces. It is pretty accurate to say that the majority of Elizabeth's waking hours are spent on reaching her developmental goals. We do not spend all day drilling her and making her work but we do try to add all her goals into her daily life and through play. During the day there is no TV we do crafts, baking, obstacle courses, her Medek exercises, her AVT goals, play games, play with her toys, sensory activities and read. Along with this she is at physio, OT, gymnastics, riding, swimming and of course her endless Dr.'s appointments.
I watch the mothers at her gymnastics go upstairs together to watch their children as I stay with her class to help Elizabeth. I wonder what do they do at home with their children and what they talk about as a group? I don't begrudge the time we spend with Elizabeth as she is so much fun to be with and everything we do will help with her independence. I just can't help wondering how things would be different. Would I lay back and read a book while she was playing? Would Ivan and I have a different social circle and allow time for ourselves? Would we leave her with a babysitter? Would I still be full time at work? Would Elizabeth be in daycare full time? Would a cold be mere inconvenience, would I even worry about it? Would she have siblings?
What I do know is that with Elizabeth we never take a moment or milestone for granted, the simplicities of sitting in a chair, using a fork, chewing, climbing on the couch and her telling me I 'am the best momma womma there is' will never be missed they are cherished even more.