Our RCH Adventure

Thursday night and this Quiet World Mama is curled up in bed ready for sleep and looking forward to the end of the week.

This has been another busy week for Jaime. First off the rank was a trip up to the Austin Genetics Clinic where we finally received our answer as to the cause of Jaime's deafness. Jaime has a genetic condition which causes Sensorineural Deafness as a result of a deletion within a gene called the Connexin gene- This is the most common of the genetic causes of Deafness, and for Jaime thankfully does not cause any other abnormalities. 

The Connexin gene is a recessive gene meaning both myself and my husband are carriers and will have a 1 in 4 chance of having a future child with a hearing impairment. I feel that this answer has finally lifted a weight off my shoulders, I feel like we can move forward with more clarity and confidence rather than wondering why.

Second of our big appointments this week was our long awaited adventure at the Royal Children's Hospital. After six months on the waiting list, finally the day had arrived for Jaime's MRI (Magnetic Resonance Imaging) and CT (Computer Tomography) scans. 

The day we had been impatiently awaiting had now become a day of anxious anticipation. Our first challenge was to survive a morning of fasting a little girl who loves her food! At midnight our sleepy little bub was woken for her final feed, 7am we were up and ready for our first round of cuddles and distractions (Jaime was not pleased about missing her breakfast) By 7:30 thoughts of breakfast were replaced with playtime and Thomas the Tank, and by 8:30 we were bundled into the car and on our way to the RCH (Jaime kindly treated this mamma to a peaceful drive dozing for the hour plus journey). Soon we were checked in to the MRI unit at the RCH awaiting our turn.

 

As per usual Jaime instantly began making friends with the nursing staff, captivating them with her bright smile. The nurses kept us distracted with bubbles until finally the time came to say goodbye to Jaime and leave her in the hands of the lovely RCH staff. As my beautiful girl drifted off to sleep I kissed her 'goodnight'. Watching those starry eyes close under the anaesthetists mask Jaime looked so tiny and fragile. Although a simple scan, to see your child looking so vulnerable and then having to walk away is heart-wrenching. I headed off to begin my anxious wait, eager to see my baby girl safe in recovery.

90 nervous minutes later, I was reunited with my precious bundle in recovery where Jaime was already awake and entertaining the nursing staff! She never ceases to amaze me, she truly is a little trooper taking everything on with a constant smile.

Once discharged, as I'm sure most of you would be aware, no trip to the RCH in Melbourne is complete without a visit to the cheeky Meerkats...

 

 

...and the giant Groper at the Aquarium!

(He was almost as big as Jaime!)

With our RCH adventure complete this Quiet world Mum is glad to be home, Jaime happily tucked up in bed and the weekend soon on its way!

Looking for answers

Another day, another long drive to attend another appointment... This is becoming routine for us now (in the words of my husband "it's a sh**, but there are many others out there with worse problems").
This weeks journey took us to the Austin Hospital to visit the Genetics Department. We are looking for answers. For us Jaime's deaf diagnosis came as a shock, this is not something that ever entered our minds as a possibility, so here we are, on a quest to learn why.
1 in every 500 babies born in Australia will be diagnosed with some form of deafness. The most common cause of congenital hearing loss is genetic, a small percentage is caused by maternal illness (mumps, rubella or influenza) or exposure to toxins and, for others, they can't find an answer. Although I was healthy throughout my pregnancy we are investigating both disease related and genetic causes. We do not have to find out, however, having answers will put our minds at ease- some diseases and genetic causes can be associated with additional complications, I want to know if I need to be on the look out for any other problems. Having this knowledge will also allow my husband and I to make an informed decision if we decide to give Jaime a little brother or sister, to know if we have a 1 in 4 chance of another child with hearing loss or to know to watch out for maternal illness. This may not sway our decision, but rather prepare us for the road ahead...
This weeks visit involved a meeting with the genetics specialist, she informs me that there are hundreds of genetic causes of deafness, some are syndromic (associated with other abnormalities and developmental delays) others are isolated to hearing loss only. After the physical examination, it is determined that Jaime appears to be developing normally... given this, it was decided that we would begin with a test for the more common "deaf genes", these are the Connexin genes (Cx26 & Cx30), these genes affect the structures of the small hair cells within the cochlea and are most commonly associated with severe to profound hearing loss. If Jaime tests positive for the connexin malformation we may take comfort that her hearing loss should be an isolated problem, this will also mean that being a recessive gene a second child would have a 1in4 chance of being deaf and a 1in2 chance becoming a carrier of the gene (asymptomatic).

Genetic testing requires bloods to be taken and sent off to look for genetic markers, so far in Jaime's short life we have been back and forth for multiple blood test, up until now these have all been done via heal-prick, drop-by-drop (a long drawn out process when a large volume of blood is required), today Jaime had her first venus-puncture (bloods taken from a vein in her arm), a daunting prospect, however in the end a much less painful procedure for both baby and mum!

Now we wait... Results will take approximately one month, this will coincide nicely with our infectious disease specialist appointment, I hope between the two we might get our answer.

Thursday we ventured to Taralye for the first time. I was excited to see the campus facilities and meet some other mums with deaf children. For the first time I felt as if I wasn't alone, I felt understood. It is difficult to explain what it is like to talk to other parents and not having to worry about explaining things along the way (not that I mind) however it is nice to talk to parents that have been there, done that.
I left for home feeling positive, after the results of Mondays hearing test and the confusion I felt, I now felt a little clearer, I left with renewed optimism for Jaime's future, and most importantly a real excitement about the prospect of implantation. Watching the other children who had recently been implanted, and listening to the feedback from their parents, I desperately hope Jaime will be eligible for a cochlear too!

After all of the too-ing and fro-ing of this week I look forward to next week, only the one appointment at the Implant Clinic... We can finally put our feet up for a little while...

Thankful for the times we live in

This past week has been a mixture of excitement and reflection.
Attending the Cochlear Implant Clinic was a positive experience, this gave me the feeling of progress, moving forward on our journey to get Jaime hearing and speaking.
Our appointment began with a video recording of Jaime's interactions and responses to 'play', both taking note of her response to sound as well non-auditory cues. Next we worked through a number of questionnaires to determine where Jaime is placed amongst her 'peers', does she 'tick the boxes' for the developmental milestones for her age. I left the appointment pleased that Jaime is tracking well, equal (if not ahead) of her peers in most areas of interaction... She smiles, mimics facial expressions and plays games such as peekaboo, as well as beginning to show signs of utilising gesture to indicate what she wants.
The only area that Jaime lags behind in her development is directly related to her limitations in hearing, Jaime is unable to turn towards sound and does not partake in 'turn-taking' speech/babble. These delays have not come as any surprise... I am happy to be done with surprises for now!

During the week we kept up with the positive vibe enjoying plenty of social time with friends; picnics, barbecues, meeting new arrivals (and impending ones) and plenty of time swimming (what better way to spend a heat wave).

This has, however, got me thinking... as more and more friends begin sharing their stories on their baby's first "mama's" and "dada's" I can't help but wonder when our turn will come. Although I could let this get me down I am also thankful that we will at least 'know' why, if this day is delayed.
I think about those that, in days gone by, did not have the same opportunities as we do, those that did not have access to early diagnosis.
I think about watching my child growing, developing, and then falling behind... Sure, questions would be raised, but not always answered, or at lease not necessarily answered correctly, Learning disabilities? Autism? or simply a child ignoring their parents... all the while falling behind their peers, not given the chance to keep up.

The introduction of Newborn screening has not only prevented misdiagnosis but also allowed hearing loss to be picked up well before any delays may be noticed, picked up with plenty of time to make decisions... Sign language, hearing devices, speech therapy...

...we are lucky to have the opportunity to plan ahead. We can enjoy the now with a little less worry about tomorrow.
But let's face it... I'm a mum... I will always worry about tomorrow.

Quiet Beginnings

My story begins in February of 2012, after feeling under the weather at work I returned home via the chemist to pick up a pregnancy test, mothers intuition perhaps? I was pregnant!
Now expecting our first child my husband and I were elated!

The next 9months were filled with excited planning and dreams of the little being that was rapidly growing in my belly.
"Birth-day" arrived and we welcomed a beautiful healthy baby girl into the world. My little angel was absolutely perfect in every way!

At two days old the nurses arrived to check Jaime's health and hearing, my husband was out at the time and I was not bothered in the least as everything was going to be fine, or so I thought.
I still remember watching the nurse hunched over my tiny baby laying content in her cot, "she has been there a long while" I thought to myself, and then she looked up and told me, "Jaime is not responding as I would like, it might be fluid in her ears, I will come back tomorrow". I was shocked but confident that tomorrow all would be fine, tomorrow came and went and another failed hearing test, this time I cried. Was my perfect baby not so perfect? How could this be?
Guilt, bewilderment, heartache... What went wrong?
I felt silly, how could I think this way about my child, my beautiful baby, was there truly something 'wrong' with her?
It was another month before we had a diagnosis, a month of both coming to terms with the thought that my baby might be deaf, but also a month of denial, 'surely they will turn to me and say it was all a mistake!'

I have a medical background and I am still undecided if this has helped or not, I knew that deafness can be managed, technology exists that can help my baby hear and achieve, but how will I cope, how will I look after a baby with additional needs?

At four weeks of age Jaime was diagnosed with sensorineural hearing loss, she is profoundly deaf on her left and has a sever hearing loss on her right (this means she can only hear sounds 80db and above)
At seven weeks of age Jaime was fitted with her first pair of hearing aids. This was an exciting step forward- the thought that she may, for the first time, hear her mothers voice, I had never thought about how much this could mean. Jaime's 'purple pair' were fitted and we waited, Jaime paused, deep in thought, hearing... Something...? A clap.. A blink.. Success! We returned home with hope for Jaime's future.
As we progressed through multiple appointments and fortnightly fittings for new hearing aid moulds, it became clear that her 'purple pair' might not be enough, this sent us down the path of the cochlea implant.

Before you judge my feelings of disappointment at learning that my baby is deaf, please I urge you to read "welcome to holland" I was handed this story not long after being given Jaime's diagnosis, I felt like finally someone was reading my mind...

My child is still perfect, perhaps not what I had expected or planned, but she still lights up my world, this tiny being that I first lay eyes on and with whom I fell instantly in love.
This tiny being is still exactly the same, only my knowledge has changed.