Orla had a hearing test last week and the results revealed the best news yet..Orla’s hearing was found to be within the normal range in both ears in all the frequencies or pitches tested and her middle ear function was also normal. This is a remarkable turnaround from 5 years ago when we were told Orla was becoming profoundly deaf. Since her bone marrow transplant, Orla’s hearing has progressively improved and she also no longer suffers from numerous ear infections. She hasn’t been wearing her hearing aids for a little while now, as the aids would have blocked more sound than they let in, however she probably still struggled to hear all sounds in all environments. We are hopeful this improvement will help in our quest for her to develop speech…
After weeks, months and years of physio the results are really starting to show for Orla, as seen in the links below. I’m not sure Orla would have acquired the strength to walk independently had she not undergone her transplant. Also pivotal for Orla in achieving this milestone is her physio Belinda. Belinda has been working with Orla since prior to her diagnosis, her unwavering patience and persistence in Orla is remarkable along with the support she has provided me throughout the journey makes her more than just great at her job!
Anyone who has much to do with Orla will know of her love of TV particularly Justine Clarke, an Australian actress who also produces children’s music, and Playschool DVDs. I have been told many times by Orla’s carers and specialists that hearing these songs remind them of Orla or they find themselves singing the tunes! Orla has recently discovered a new favourite musical DVD from her heritage, “Celtic Women”. We have watched and listened to this many times over the past few months and I find myself singing these songs !! Orla’s interest in musical DVDs deepend when she was in hospital for her transplant. I realised when we saw the BMT team earlier this week, it was exactly 3 years ago that she started her chemotherapy known as the conditioning phase in preparation for her transplant at the end of the month. Life certainly feels very different to then as I proudly introduce Orla’s sister, young Nell, who is 11 weeks old today and whose presence Orla is slowly accepting!!
It’s been a number of months since I last posted and a number of things have been happening. Firstly, at the end of July, Orla celebrated her 4th birthday. Her birthday this year was marked with more excitement and celebration than previous years. Orla was unaware the day was in anyway special however for the first time in Orla’s 4 years, I felt I could genuinely celebrate her birthday without a shadow of sadness cast over me.
It was timely that the day prior to Orla’s birthday a bike that had been specially made for her was ready and collected. The bike was made by a fabulous organisation called Freedom wheels who adapt pushbikes for all people with special needs. The photo below of Orla on the bike was taken on a rare sunny day during Melbourne’s winter this year! Even though the past winter was extraordinary long and dreary, Orla has been remarkably well. Her ear clean out I described in my last blog served her extremely well throughout the winter and she fortunately didn’t have any ear infections. In fact, her hearing has continued to improve now her ears are clear and have remained free from fluid too. Orla’s hearing improvements are really pleasing however they have caused her distress at times when her aids remain amplified more than she requires. This impacts her mostly around children and babies as their voices and sounds are higher pitched and their nature can be more unpredictable. The fact Orla isn’t able to express that a noise is too loud for her other than through emotion also remains a big challenge.
In August, Orla had a MRI of her brain and spine, the results a reminder of how insidious A-Mann can be. The main reason for the MRI was to look at an area called the cerebrospinal junction which essentially connects the spine to the base of the skull. Orla had an MRI of this area prior to her BMT which showed some narrowing therefore it needed to be checked as there is risk it could be placing pressure on her spinal cord and causing some pressure build up in her brain. Following the MRI, we were referred to yet another specialist team, neurosurgery for review. The neurosurgeons informed us that the narrowing is slightly worse and hence it will need to be monitored by an MRI every couple of years or if Orla was to develop symptoms. The neurosurgeons are hopeful the narrowing will remain the same and Orla can escape the need for surgery. Unfortunately, Orla’s brain MRI also didn’t reveal what you would expect of a 4 year old either. She has atrophy or shrinkage on her cerebellum, the area important for balance, coordination and speech. Also her pre BMT scan showed some what is known as myelination of her white matter but not as much as you would expect in a child of her age at the time. There is evidence that the white matter has grown further, which is good, but the metabolic doctors say there is no way of knowing if this is due to some enzyme getting in or it would have happened anyway. Whilst these results were upsetting initially, they do provide us and Orla’s extended team with information and consequently we are exploring adding in some additional therapy to Orla’s already busy routine, which now also includes horseriding for the disabled, to help her achieve her full potential.
Orla has been making some fantastic progress with her walking in the past few weeks and months. A few weeks ago, she walked into her kinder with her walking frame and almost received a standing ovation from both the staff and other children!! Unfortunately with all the excitement and need to concentrate to assist her while feeling somewhat emotional, I forgot to capture the moment in anyway other than my memory. So instead, there is a photo below of Orla out for a walk in her pram accompanied by the class Koala Kurboroo who was staying with us for the weekend.
It was mother’s day in Australia a few weeks ago and hence I found myself reflecting on what mother’s day means to me. I thought about my grandmothers, one blessed with good health and longevity and who only passed away last year in her 93rd year. The other who had her life cut short by illness at the age of sixty-six. In the naivety of my childhood she seemed old, maturity has taught me that she had definitely not reached old age. I thought of my own precious mother and the things she has done for me especially in the last few years. I also remembered fondly, as I regularly do, my mother in law, who was also taken from us far too young. I found myself questioning my beliefs and wondering if she in anyway knows the journey of her granddaughter.
Being a mother is certainly not what I anticipated nor expected. Yes, there are definitely some aspects that I envisaged such as the unconditional love you have for your child and the joy that only your own child’s smile can bring. I never expected the worry, constant care and the challenges constantly felt when parenting a child with special needs.
This difference can be very isolating and stayed with with me quite strongly over the first few months of this year. Going back to Christmas and the New Year, like mother’s day and other important calendar days, they bring reflections of where life is and one often measures this against their personal expectations. My expectations would be for my daughter to be like her peers, bursting with excitement about Christmas and the festivities it brings. This was not the case and it brought a lot of mixed emotions. Following on from Christmas, we had summer holidays and again this brought expectations such as spending time at the beach, life relaxed and easy for a few weeks. This wasn’t the case for me, we went to the beach and we had a good time but there was sadness in the difference in our lives.
At the end of February, Orla reached the milestone of 2 years since her bone marrow transplant. This is another achievement and all her tests showed everything to be as good as possible. She was also able to receive her first live vaccinations as her immune system is now well developed. This milestone, although a massive achievement which I definitely appreciate, was in fact marked with much grief for me. I had expected Orla would be developmentally more advanced by this point. I anticipated she would be walking, feeding herself and talking, we were never told not to expect this. I didn’t expect that her life and mine would be constant therapy and hard work to achieve things that just come so innately for most. At this time, I read back over some of my entries to this blog when Orla was diagnosed, prior to her transplant and felt crushed by the hope I could feel in my writing and that hope was replaced by grief and exhaustion. I now realize that it was really only at this point, I was really starting to come to terms with Orla’s diagnosis and the real impact of it. The planning and preparation for her bone marrow transplant started almost immediately after diagnosis. There was no time to waste and I’m very grateful for this. However, there was also no time for grief and even then we didn’t know what we were grieving for other than our precious daughter was not going to be or do the things we anticipated. Even now, no one can tell us. I’m now more accepting that this in fact the very essence of what I actually need to come to terms with…the not knowing. This is not easy. Anyone who tells a special needs parent to not compare their child to other children really should think about whether they could. You learn, I feel, to deal with the comparison and accept as much as you can. Before you know it, you find something that you feared becomes your norm and reality.
Orla remains very happy and she is progressing slowly. She is practicing standing and stepping with a frame with far less protesting at physio. Her physiotherapist, Belinda and I have been researching different things in regard to Orla’s feet and ankles and have ordered her a new pair of boots that we will be excited to get in a few weeks. We really hope this will help Orla’s walking and stretching her Achilles tendons which remain tight and stop Orla from placing her feet flat on the ground when she pulls up to stand.
Orla had her ears cleaned out under sedation a few weeks ago at the children’s hospital. She had a persistent build up of wax in her ears, which her hearing tests revealed to be adding 20-30 decibels of extra loss to her underlying hearing impairment. Orla will no longer let any doctor near her ears to clean them out and she is too big and strong to be held still now. The sedation as the paedatrician stated, “just took the edge off” and the other benefit is she won’t remember. Even with the sedation, it still took 5 people to hold and distract her including the doctor actually removing the wax! Orla is now more engaged and reacting to sounds she wasn’t prior and there is a noticeable difference in her vocalisations.
Alpha Mannosidosis affects every cell in the body and hence can affect every organ too. Orla’s eyes therefore need to be monitored and were checked a few weeks ago. Like her ear and hearing checks, the eye check was also a challenge, especially inserting the drops needed to dilate her pupils. We discovered at this appointment that yet another aid is needed, for long distances – glasses! No big deal aesthetically, what was a concern was how will we keep them on! Orla still likes to eat things that aren’t for eating, and she does chew her glasses at times but they have made a noticeable difference and she is significantly more compliant wearing her new specs than her hearing aids. In fact, Orla has quite a reputation for her mishandling of her aids. In January, she managed to inadvertently swallow a battery from her aids and of course, as luck would have it, was literally half an hour before we were due to leave home to catch the overnight ferry to Tasmania for our holidays. We instead had to make a detour to the children’s hospital for an X-ray to check the whereabouts of the battery and then also check it was passed by Orla, and it was, a few days later. We missed the boat that evening, our holiday delayed 24 hours, and Orla blissfully unaware of the all the fuss!
Orla continues to enjoy kinder, the staff at the centre where she attends are wonderful and are enjoying the journey of following her development. A few weeks ago, Orla surprised them by pulling to stand at one of the tables and then promptly climbing on top. Orla has developed a great like for climbing in the past few months, secondary to her love of bouncing. Orla currently aligns herself closely with the words of Tigger from Winnie the pooh, “Life is not about how fast you run or how you climb but how well you bounce”.
Below is a photo of the growing girl taken a few weeks ago wearing her new specs!
It was exactly 2 years to the day on Sunday since Orla was diagnosed with Alpha Mannosidosis. Ed and I struggled to remember the name of the condition as we made our way home from the hospital that day, fortunately the doctors wrote it down, our shock was transparent. We no longer struggle to recall the name; we are in fact experts now. Having said that, the most profound thing we have learnt is that there is actually limited knowledge about A-Mann and therefore we essentially continue to navigate unchartered waters. People ask me and I ask myself everyday many questions about Orla – will she do this or that, did she hear that, does she get this….it is constant and there are occasions when she gives you a clue or some insight that she might get there or get it and then there are days when it is hard to stay on the road as it is ever winding.
Orla is doing well in herself, is very happy, and has been pretty healthy despite the occasional virus. We feel very fortunate that this really doesn’t affect her too much now. It is amazing, she is quite a different child to manage following her bone marrow transplant, her overall health is significantly improved. The one problem that persists when she gets a cold is fluid in her ears and generally an ear infection follows which then affects her hearing. Orla’s hearing still proves difficult to pinpoint, attached is a photo taken a few weeks ago when she attended a hearing test. This particular test is performed with her aids on. The headwear she is so elegantly wearing is used to detect Orla’s brain’s response to the sound. On this day, the test showed she was able to hear the high pitch sound measured at that of average human speech. This test was necessary as a few weeks prior when performing the usual style of testing that relies on her to look towards a puppet to confirm she can hear a sound, she responded to low and mid pitch sounds but not high!! You can probably sense my frustration! Orla is very vocal but not yet talking and until she does there is not guarantee she is hearing adequately.
In early August Orla had her grommets from both ears removed as well as her adenoids. The ENT doctor felt her grommets were chronically infected and her adenoids enlarged. She wasn’t able to tell for sure until Orla was anaesthetized in the operating theatre but we fortunately made the right decision in that the grommets looked pretty mucky and her adenoids were big. Her sleeping returned to being soft and her ears haven’t been infected as much.
In term 3, she commenced a 3-hour occasional care session at our local kindergarten. This has been a very positive experience for Orla; In fact, she is commencing a second session from this week until the end of the year. She has the assistance of what’s termed an inclusion support worker to assist her and is very comfortable with the staff and the environment.
She continues to attend many therapy sessions each week, including speech therapy, physiotherapy, occupational therapy, Feldenkrais, music therapy and her favourite, hydrotherapy. She communicates her needs, likes and dislikes in a very direct way. This makes for some flamboyant battles and some of the therapy particularly challenging especially physio and speech; the therapists and I are continually challenged to think of unique ways to engage Orla. Physio usually requires Justine Clarke playing on my iPhone! In truth, many of the health professionals Orla sees associate Justine Clarke songs with her!
We had a confronting time around June following a developmental paedatrician appointment who in the discussion around writing a supporting letter for a funding application, raised some pretty confronting indicators for Orla’s future. This included the obvious that still prevails of not yet being able to walk, talk or feed herself but most upsetting the chance that Orla may never be able to master these skills and hence the idea of mainstream schooling been unlikely. This upset us. We were going away for a week and took this news with us. Earlier that week, we had been given good reports regarding Orla’s hearing impairment and scoliosis of her spine, that each had improved, we were hoping to take this positive news away with us but were instead jolted back down to earth. It is a fine balance between remaining optimistic while realistic, we are continually learning and again it is an ever-winding road. The bone marrow transplant doctors always maintained that it would take 1.5 -2 years for the missing enzyme to reach Orla’s brain, and then we don’t know quite how much it will repair and regenerate, the brain is probably as unknown as Mannosidosis! We are starting to see small changes in Orla cognitively and we can only hope and assist this to continue. These are as I said small changes but big victories for us. Tonight she reached for her fork as it balanced on her plate with fish loaded onto it, picked it up and ate the fish. She also drank from her cup with assistance but didn’t promptly then throw the cup away but instead paused and held it before taking another mouthful of water. Another random but very positive sign is Orla’s teeth seemed to have grown significantly of late. Her teeth whilst they came through as a baby they failed to grow, another sign something wasn’t right. The chemotherapy she underwent for the bone marrow transplant can also affect ones teeth but so too can, you guessed it, A-Mann!
At her last BMT appointment, which she currently attends every 8 weeks, Orla weighed 15.6kg and had reached a metre in length. She has grown a lot and can be quite a load to carry especially as she is nearly two-thirds my height. I regularly need to attend a therapist myself so I can keep myself in shape to lift her! On a positive, her muscles tone and strength continues to improve and she is becoming more mobile all the time. She practices stepping wearing orthotics with a frame or parallel bars at physio under much duress.
2 years on and we are doing well. Although it would be our greatest wish that Orla didn’t have A-Mann, we are accepting it is what makes her Orla. Last week, while chatting with a colleague I’ve known for many years, I candidly explained that it is almost 2 years since Orla’s diagnosis and that life is really just feeling somewhat settled again. I then surprised myself only a couple of hours later by unexpectantly bursting into tears when I received a phone call from a neuropsychologist at the children’s hospital wanting to book in an assessment for Orla. It wasn’t that I hadn’t expected the call; Orla has been on the waitlist for quite some time. I think it was because I was hoping the longer it was left, the better she might perform. The reality is I don’t want Orla in the position where she has to do the assessment, for me to see the results that I essentially know.
Finally, if anyone one is still reading, after such a long post (it has been a while) here is a photo of the smiling girl enjoying the playground last week. I have also attached a link to an interesting article written by an Irish Comedian that Ed stumbled upon a few months ago. It eloquently describes the many constant thoughts and emotions unique to a parent of a child with special needs and we can relate closely.
Wow, a whole year on since Orla had her transplant. It was this evening 12 months ago at around 6pm, the bag of bone marrow arrived into the unit for Orla having travelled a long way from another part of … Continue reading
It was 12 months ago today that Orla was admitted to the Bone Marrow Transplant Unit. The day resembles some similarities as I’m packing…. However this time, packing for the flight and a few days away on the north west coast of Tasmania that we postponed last year due to Orla’s surgery before her transplant and I’m very much looking forward to it. Life is really starting to take on a sense of normality which is a great feeling and in stark contrast to the anxiety of this evening 12 months ago. We did not know what lay ahead for Orla. I did not know if I would ever bring her home as I drove her to the hospital that afternoon. In an attempt to describe the feelings of that day, the anticipation of jumping off a cliff is in my mind, not knowing where you are going to land, so many ways it could go and we fortunately feel like we are starting to make our way to safe ground.
2014 has begun well for Orla. Firstly, we saw the BMT doctor a couple of days after our return from Tasmania and received some good news. Orla’s most recent blood test show her immune system has reached a level where she can now stop the antibiotic she was having twice a week to to assist it if she were to come into contact with any nasty bugs. This was the one remaining drug and hence Orla is now drug free which is obviously very pleasing. Orla’s immune system is not completely 100% normal, we are told this will take over 12months, but she is well equipped to put up a good fight against any viruses or bugs she comes into contact with and importantly too, her immune system would now be able to remember them. The reality of this means we no longer have to isolate Orla and are readjusting back into life as we knew it until 12 months ago. We are however a little more careful than previously, a side effect of dealing with so much sickness, we would like to avoid it for a little while at least! Orla’s immune system status also means she can have more immunisations and she had the first of a multi vaccine injection a few weeks ago which now means she is immunised as well as the average 2 month year old Aussie kid!
Secondly, Orla accidentally pulled her nasogastric tube out last Thursday. This never happens at an ideal time, especially so when it was 40 plus degrees celsius and the tube is only for fluids !! I’m not sure if it was the fact we felt the time was right, we really needed to dedicate the time to getting Orla to drink, or the strong desire to avoid Orla experiencing and us witnessing another nasogastric tube insertion that drove us not to return to the RCH that day and “see how we go”. It will be one week tomorrow and she remains tube free, looks rather different and we think feels rather good without it! She is managing to drink from a cup which has piece cut out to assist the person assisting her control the rate the fluid flows into her mouth. We are also needing to thicken the fluid that she drinks and coming up with a variety of creative ways of including as much fluid in her food as we can to avoid her becoming dehydrated…I never knew a weetbix could hold so much milk!! She is doing well and getting quicker but it is slow and tedious but, I must say, less stressful than the constant concern of the nasogastric tube being inadvertently pulled out. And Orla’s obsession with putting her hands in her mouth, meant the dressing was more often than not wet and would thus lose its adhesiveness and constantly had to be redressed and reinforced. We are also hoping after 11 months of no drinking, Orla may possibly start to remember thirst which would of course be the biggest motivator of all for her to drink more.
Finally, today marks quite a milestone in Orla’s BMT journey. It was this day 12 months ago that she underwent her surgery in preparation for the BMT. This included her Hickman line insertion, which got infected and dislodged and had to be removed and another inserted, an ovary removed, we will not know for many years if the chemotherapy she endured has made her infertile, and her second set of grommets inserted which are fortunately still in place. I remember the BMT consultant and registrar gave Ed and I are a tour of the BMT unit while Orla was having her surgery, it was just the beginning!!