The journey to diagnosis – Birth to 16 months

Since birth, Orla has been found to have a hearing impairment (both nerve and conductive), torticollis, plagiocephaly, scoliosis, kyphosis, enlarged liver and spleen, macrocephaly, low muscle tone and mild development delay. The discovery of the hearing impairment found us under the regular care of a paedatrician, which is unusual in Australia unless there is a health issue, so when other concerns arose we were referred on for more specific testing. Below is a detailed account of our journey.

Following a textbook pregnancy, Orla was born on July 31st 2011 (a few days late but her mother is always late so it seemed fitting. If she were a boy, she would have been on time like her Dad!). A drawn out labour preceded a fairly traumatic delivery, the outcome being our precious girl, named Orla, meaning golden princess in Irish. Mother and daughter were both a bit physically battered and bruised by the birth and Dad psychologically. Nonetheless, we were very impressed with the care and skill by everyone involved and we started to get our heads around caring for this tiny person with all the apprehension and elation experienced by every new parent.

A couple of days after Orla’s birth – amongst all the impromptu lessons in parenting by the midwives – a woman came in to the room to do the newborn hearing screening test. I was out of the room at the time, when I returned, Ed informed me that Orla had failed the test and whilst I was a little surprised, we were reassured by the various doctors and nurses caring for us that this happens to approximately 1 in 10 newborns, hence the practice of 2 attempts at the test. We were advised that the best strategy, as Orla was quite “snuffly”, was not to worry and to return in a few weeks to the outpatients department for the repeat test. Ed proceeded to do his own hearing tests, clapping over Orla in her crib to see if she would flinch or startle and she did. I wasn’t terribly worried; of all the thoughts I had of something “being wrong”, hearing had never crossed my mind.

Two weeks later, we returned to outpatients only for Orla to pass in one ear and fail in the other. This meant a referral for further testing, involving an Auditory Brainstem Response test (ABR).  The first ABR reassured us that Orla could hear and on that day we were told that the worst-case scenario would be that she might need to sit up the front of a classroom – no big deal as far as we were concerned.  The final part of the test, on that day, was to test if fluid was the issue causing the impairment. Only one ear was tested, showing no fluid. Orla was quite upset by this point so the other ear wasn’t tested. We went home feeling pretty reassured but with an appointment to return a few weeks later to repeat and hopefully complete the test. The next test was not successful; there was an issue with the computer and Orla wouldn’t settle, so we aborted with another date to return for a third attempt. This is apparently very unusual.

At this time, the audiologist suggested that Orla might have a sensoneural (nerve hearing loss). He mentioned that there was something about the look of the waves on the previous test making him think this and said you would almost need to be an audiologist to pick up these subtleties. I was a little stressed by this comment, especially as I attended the appointment by myself as we felt so reassured at the completion of the initial appointment. An appointment was thus made for a third ABR in a further couple of week’s time.

This third and final test revealed fluid in both ears. Plus, a test using an instrument called a bone conductor which bypasses any hearing loss caused by fluid found Orla did in fact have a sensoneural hearing impairment. The level measured was the same as that measured by her first ABR; thus Orla probably wouldn’t need hearing aids but we would need to be referred to Australian Hearing who mange children with hearing impairment up to the age of 26.

The following week I had a call from Aus. Hearing wanting to book an appointment and when I enquired what the appointment was for, I was told it was to fit hearing aids. My response was “I don’t even know if she needs them”. And so we decided to seek an opinion from an ear, nose and throat (ENT) specialist.

The ENT suggested by our paedatrician only worked at the Royal Children’s Hospital (RCH) and of course they wanted Orla to have yet another ABR. So the day Queen Elizabeth II opened the new RCH hospital, we attended for a fourth ABR. Yes, there was fluid present, causing what is referred to as a conductive hearing loss, however the bone conduction studies on this occasion measuring the sensoneural loss seemed to be worse and we were informed by the audiologist that Orla was probably becoming profoundly deaf and that it was probably most likely due to virus I had had when pregnant.

Until this point, although worried, we had tried to keep things in perspective and enjoy Orla but we felt very upset at this time. I spoke to the original audiologist about this result, he was really quite baffled and commented that for a hearing impairment to be getting worse like Orla’s appeared to be was very unusual and likened it to chance of winning the lotto backwards….I have thought about that comment many times since!

We saw the ENT consultant at RCH a few weeks later who reassured us that she felt Orla’s hearing loss was mild. She however suggested that although hearing aids wouldn’t necessarily be compulsory for normal speech and language development, she recommended it to be safe, so we went with this approach. Our paediatrician also organized for some hearing genetic testing and a check of Orla’s Guthrie card (the card used for the heel prick sample collected a few days after birth) to check for a virus known as Cytomegalovirus (CMV). CMV was the virus the audiologist at RCH was referring to.  It can cause a progressive hearing loss if contracted in utero. The Guthrie card was negative for CMV and the most common genetic hearing loss known as Connexins also declared a negative result.

Orla was now 3 months old and there had been other issues too. She had failed to gain weight breastfeeding alone.  I persevered and struggled with it, expressing after feeds to “top her up” as much as I could with breast milk and when I couldn’t, substituting with formula. One lactation consultant had suggested Orla had a sub mucosal cleft palate due to the noise she made when feeding. A visit to the pediatrician ruled it out.

At 3 weeks of age, we also noticed a lump the size of a pea on the left side of her neck, another trip to the paedatrician, diagnosed as Torticollis, which is reasonably common and more than likely a muscular birth injury. There was no treatment suggested and Orla’s didn’t resolve possibly as quickly as most. More than likely because of the torticollis, she disliked being placed on to her tummy, and favored her head turning to the right when she slept. This caused her head to become quite misshapen, technically known as Plagiocephaly and commonly associated with Torticollis.

There were a few other subtle things such as the fact that she didn’t seem to smile until around 10-12 weeks.

We continued along and Orla was fitted with some hearing aids in the beginning of December, at age 4 months. This was an eventful day for us. In between all this, we decided to seek a second opinion from another ENT surgeon re Orla’s hearing as we just felt things weren’t quite adding up. The second ENT surgeon felt fluid was potentially Orla’s underlying hearing problem, clouding the ABR results and encouraged us not to stress too much.  His advice was if the fluid still remained in a few months time, especially as it was summer, it’s unlikely to dissipate on its own and Orla would require insertion of grommets. I also spoke with a friend’s father who is an ENT surgeon and he agreed.

The fluid persisted and at 7 months of age she was to have grommets inserted. This was postponed by the anaethetist because Orla was unwell and rebooked for a month later. The next attempt was also postponed; the surgeon was unwell this time. Luck really wasn’t on our side. We were anxious by this stage; we still didn’t know what level of hearing Orla had and her aids were possibly not providing her with adequate sound input for normal speech and language development. The whole point of the newborn hearing screening being early intervention was failing us.

At 9 months, the surgery for grommets finally went ahead and a 5th ABR was performed under anaesthetic revealing Orla’s hearing to be worse and was now defined as moderate. The audiologists were scratching their heads, normally an ABR reveals a definite audiogram and this provides a prescription for hearing aids if required. Orla’s tests gave differing results and her hearing appeared to be getting worse – apparently very unusual.

In the midst of this, Orla’s head began to grow quite rapidly and while she was on the 90-95 percentile for height, weight and head circumference early on, her head was now well over 100th percentile. At 6 months, we were told to just “watch and wait” but her head continued to grow at the same rate. So at 8 months off to the paedatrician again and Orla needed to have an ultrasound to check she didn’t have hydrocephalus. The paedatrician was starting to become concerned at this stage. At Orla’s 6 month appointment, the paed had raised concerns about Orla’s muscle strength and suggested taking her to a physio if she wasn’t sitting up by 8 months. Orla was able to sit at around 8 and half months but I did take her to physio who felt her muscle tone was on the lower end of the normal spectrum.

At 8 months, as I said, she required an ultrasound to check for hydrocephalus which was negative. However, when the paedatrician examined Orla she was concerned about the size of her head – known as Macrocephaly. But what was more alarming was that she found Orla’s liver and spleen to be enlarged and she was refusing to take weight in her legs. At this point, a blood test was ordered to check what’s known as karyotype testing to essentially see if there are any major genetic issues. A blood test was also performed to check Orla’s liver and thyroid function and also a test for a glycogen storage disease known as Pompe’s.

All of these tests were normal and so we were reassured. Plus Orla was making progress with the physio and her head growth had stopped. In contrast to us, the paedatrician was not reassured by these results and when we returned for Orla’s 10 month appointment, she made us very aware that she had concerns in regard to Orla’s developmental potential, essentially saying that an old person has many things wrong, a baby doesn’t. She chose to refer us to a neurologist at RCH.

She then phoned me the next day wanting to do another test called urinary GAGs, which tests for Glycogen storage diseases but commented that children with these diseases tend to have stiff fingers, which Orla didn’t, and proceeded to say, in an effort to try and reassure me I think, “We will do all these tests and she will probably have nothing wrong”.

Needless to say, at this point our stress levels heightened significantly and we decided to seek a second opinion. By this stage, I was very worried, friends and family were reassuring us, but the bottom line was that the gap in what Orla was doing in comparison to others her age was starting to widen and we were scared.

Another major problem for Orla was eating. Initially it was breastfeeding but then the introduction of solids was extremely difficult. Despite being told numerous times that ‘all kids are fussy, you just need to be patient’, I felt there was something more going on and this was beyond the normal challenges.

In August, when Orla had just turned 12 months, we went to see a second general paedatrician. She too wasn’t able to reassure us regarding Orla’s future from a physical or cognitive perspective. She also suggested the test for urinary GAGs. The first sample requested by our first paedatrician was an insufficient amount and we chose not to repeat it until we saw our new paed. She also referred us to the genetics and metabolics team at RCH. It took a while to get these appointments.

In the meantime, the urinary GAG test result came back normal so we were relieved although the paedatrician did say…. “sometimes you can get a false normal”. We went with the “what are the chances of that” attitude and did feel a little reassured that we could rule out a group of serious diseases. During this time, I admit I spent a lot of time on the internet trying to work it out… I am glad now that I didn’t bury my head in the sand and faced our fears as putting it off wouldn’t have made it go away.

Time was, however, ticking on. At 12 months of age, Orla was still not moving or making sounds. She had never regressed and was developing, but slower than her peers. She had also caught a cold in the winter that plagued her for months. This resulted in both her grommets blocking and at separate times, ear infections and bleeding around the grommets.

It was around this time that Orla also started regurgitating milk through her nose. The ENT, at this point (we had another one by this stage who we are very happy with) wanted to double check with a plastic surgeon it wasn’t a sub mucosal cleft, so another specialist appointment was arranged.

We had also seen an orthopaedic surgeon who specializes in scoliosis. Our original paedatrician felt the scoliosis Orla was displaying (which we noticed very early on) was postural and would resolve, but our parental instinct had us worried.  It turns out this was actually a very important clue.  The X-rays taken suggested a storage disease as they cause skeletal changes but at our initial appointment the surgeon had no definite evidence but he did suggest genetics might be a good place to go! Another consultant paedatrician was suggesting something was going on – likely a storage disorder.

At the end of October, we attended the genetics appointment at RCH. The geneticist seemed pretty adamant that Orla had a genetic condition and that a hearing impairing was a component of it, not the main issue. The history noted to date was pointing in the direction of a condition known as Hurlers which is a type of glycogen storage disorder also known as Mucopolysaccharisodis 1 or MPS1. We wanted to convince him this wasn’t the case.

Blood tests were taken that day, testing for all the glycogen storage diseases including a group called Oligosaccharidoses which wasn’t tested in Orla’s original urinary GAG test hence that test was normal! The geneticist has since told us he felt Orla didn’t have Hurlers after meeting her that day but did some reading after we left and came up with Alpha Mannosidosis. He was a very good detective. Some families go through years of testing looking for a diagnosis.

A couple of weeks later – what seemed like an eternity, by this stage Ed and I were very anxious – we were to see the metabolic team. The day of the appointment they phoned to say that all the results the geneticist ordered were not yet through so did we want to postpone our appointment? We opted not too as we were simply too worked up and wanted some sense of what they were feeling. They told us that the test for Hurlers was negative, but that they too felt Orla did have a storage disease. We were relieved she didn’t have Hurlers. We had been reading about the other remaining diseases, some of which were very confronting and very rare. But we were still unconvinced especially as some of them were so so rare and in many the children die in early infancy and whilst Orla appeared developmentally delayed, she seemed reasonably healthy.

We were to go back on the Friday if the results for all the storage diseases were through and if these were all negative they would start looking for other types of diseases and disorders. Our hopes of proving there was nothing major going on with our precious daughter were fading.

On Friday 23rd November 2012, Ed and I faced our greatest fear. We sat together at the RCH awaiting the news that Orla’s mystery had been solved and were told that Orla has a condition called Alpha Mannosidosis (A-Mann) that causes progressive physical and mental retardation. Beyond that there really isn’t much known. The metabolic team had never diagnosed it before in a child as young as Orla. They told us what they could but were respectful of our despair that day, made an appointment for us the following week and left us to the digest the news.

They did however send us away with the name of man from NZ who has twins with A-Mann, and encouraged us to make contact with him. They also gave us an appointment to see a haematologist early the following week to discuss the possibility of a Bone Marrow Transplant (BMT).  We spoke to the father of the NZ twins on the Sunday evening and he very much encouraged us to look at the option of BMT. We set about finding out as much as we could and decided we needed, for Orla’s sake, to take the chance. Life for Alpha Mann sufferers after a successful BMT is thought to be better than without, but the risks of BMT are high.

One needs to take a fatalistic view of the world when something like this happens. It is terribly hard to take and feels very unfair. Orla is however 1 in a million in the true sense of the saying and I thus feel she was delivered to us for some reason. I am only proud to be the mother of such an amazing, charismatic and buoyant young girl. Through all the appointments and endless worry, I can honestly say we continued to laugh and smile in every hour of every day.


One thought on “The journey to diagnosis – Birth to 16 months

  1. Flick, you are the most amazing writer. You are doing such a wonderful thing by writing this, it must help so many other people in the future. We so admire and love you all. Nancy & Niall xxx

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