Shop untill you drop

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fund raising

Being a  small support network it can be hard work to raise the funds needed to carry on with the work we do.  so why not help and support us by shopping till you drop.

SO WHY Not SHOP ONLINE AND RAISE MONEY FOR COSTELLOKIDS,

Use our webshop to help us raise money

We’re delighted to announce our fundraising webshop. When shopping online, you can access over 100 leading retailers using our webshop. Every time you use our webshop when shopping online, you’ll automatically earn money for us! You don’t pay anything extra by using our webshop, so please try to use it whenever you can.

Find our webshop at buy.at/CostelloKids (please bookmark this link for future use).

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London conference 2010 – update

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London conference 2010

With the start of march the panning for our conference is progressing well.  In fact we have had far more people express an interest in the event then we could have hoped for when we started to plan this event.

In the next few day I will be posting a letter to everybody who filled in the form on this website, this will include the costs of the rooms, and the conference, and meals. There is still time to express interest if you have not already done so.

The launch of the Rasopothy group at the House of Lords is now over subscribed. We only had room for 120+ people, we have far more people signed up then we have space for. So we will be allocating tickets on a first come first served.

We have a fantastic line up of presenters for the conference day, and are very excited about the event.   We will also be having breakout sessions during the day.

If you have any questions please post them as comments below. I will post more info as the plans develop.

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Marketing speak and health care

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feelings, random ramblings

One of the things in life that at some time everybody will need is good health care. Like birth and death sometime we all get sick. I believe that good health care is a fundamental human right. Medical professionals should treat people with respect and understanding. Sadly that is not always the case. Often marketing and health and safety messages come before health care provision, and understanding the needs of sick people.

This is what the sign says

Our Shared Values
Everyone at the Royal Children’s Hospital Health Service District Strives to work by these values:

We believe young people deserve the best we are able to give them.

We take ownership for our actions.

We except change and use this as momentum to achieve excellence.

We work towards positive and creative solutions and in learning we make mistakes.

We understand that everything we do in this organisation impacts on others and our actions contribute to our strengths as a whole.

Constructive behaviour that supports our mission and vision is encouraged and destructive  behaviour is unacceptable.

The question is what does this mean, and how does it apply to the health care that the hospital provides.

Since founding the Costello syndrome support group almost 15 years ago, at a time when there was only a small amount of information, and the idea of a care plan based on evidence of the condition was  impossible.  Over the years through better understanding and research,  this should no longer be the case. With several publications written about caring for a person with Costello syndrome in the medical literature, it should be expected that the medical professionals  provide the very best care based on knowledge and understanding.

Sadly this is not the case, parents can be treated with disrespect, contempt, and some would say the care provided was both bullying and insulting.

This is just one story, how many others have been let down?

…..last year we had ongoing issues with our paediatrician  not listening to us at all.  Several times I told her that my daughter was  was refusing feeds. This is a normal situation in Costello syndrome, CS babies do not like to feed, it is a well known part of the syndrome, yet our doctor  kept fobbing me off and telling me to just persevere.  The literature  says

Disease characteristics.
Costello syndrome is characterized by failure to thrive in infancy as a result of severe postnatal feeding difficulties

Ref: Gene Review

This is the first line of  the description for the syndrome, so being told to persevere would not help or improve my daughter’s feeding issues. One day  I ran into the registrar at the hospital who realised  my daughter had lost a huge amount of weight and could barely stay awake. She was admitted immediately.  I could see that my daughter was having cyanotic episodes both awake and asleep, I informed the doctors, but sadly they would not listen, until she  until she was declared SIDS near miss and stopped breathing 7 times in 5 hours.

“We believe young people deserve the best we are able to give them.”

After our Paediatrician went on maternity leave I hoped that  her replacement would be better at understanding CS.

The new Paediatrician it seems had been educated by the initial Paediatrician. Our first meeting with her was in the midst of our first major complaint against the hospital and she sat there and said all the right things to acknowledge our concerns and our anger at the lack of quality care . (invasive testing done against our wishes, wrong medications given, medicationss not given, feeds not given… at one point she was starved for 18 hours because they ‘forgot’ to feed her!)

“We believe young people deserve the best we are able to give them”

As soon as we left, she sat down and wrote a letter to every other team involved in my daughter’s care AND MY GP telling them that we were hostile parents and that our hostility possessed no valid concern and that it was simply nothing more than grief over the CS diagnosis incorrectly misdirected at the hospital and medical staff.

“We work towards positive and creative solutions and in learning we make mistakes.”

We needed to know more so we went to the 6th CS conference in the USA. The knowledge we gained was amazing, and we had several recommendations, including a recommended testing strategy written by the world experts in CS, the testing included, ultrasounds of the abdomen to screen for cancer,  Cardiac evaluation and echo cardiagram and MRI for ruling out Chiari malformation.

We had been asking for  an MRI since May and the new paed refused, saying that it was totally not necessary and that we had no medical background and we couldn’t do a diagnosis on something that we read on the internet or from a few words from an overseas stranger (who just happened to be an expert neurosurgeon specialising in CS).

“We except change and use this as momentum to achieve excellence.”
“We believe young people deserve the best we are able to give them.”

Finally a surgeon organised the MRI piggybacked onto her surgery and lo and behold it showed that she had a severe Chiari malformation with severe hydrocephalus (which is what we had been questioning all along!).

“We work towards positive and creative solutions and in learning we make mistakes.”

When the surgery was done in January 2010 the Neurosurgeons said that her Chiari was so severe that her cerebral tonsils had impacted into her skull for so long that they had become necrotic and he had to remove a section of her cerebral tonsils.

A lack of care, an inability to listen or lean had lead to what could have been a potentially disastrous outcome.

Back in September when we first got the Chiari diagnosis, I made another complaint then and demanded a new paediatrician  who would actually listen to us and work with us to care for our daughter.

We were given a new paediatrician . When we had our first meeting with him and everything seemed to be great. We go home and the first time we need him we find out that he’s only in the hospital 8 hours a week… and he doesn’t have his own registrar or resident, so we just have to deal with whoever is taking his calls that day. There was no continuity of care. He completely ignored issues that were raised in September and only finally addressed them in January when I told him that my daughters surgery was going to be cancelled. So he started her on some medication but did nothing about investigating the problems at all.

“We understand that everything we do in this organisation impacts on others and our actions contribute to our strengths as a whole.”

She goes in, she has her surgery and the hyponatremia that he had started the medications for becomes severe post neuro surgery. She gets rushed to ICU. Everyone is jumping up and down for the hundredth time about the fact that her electrolytes are so out of whack… but the doctor  just shrugs it off and says it’s fine.

“We believe young people deserve the best we are able to give them.”

Finally, 3 days before she’s discharged, I ask to have him paged to talk to him and get told that he is no longer our paediatrician. He has removed himself from our daughters  care.

Furthermore, there is not a single doctor in the hospital that we can find that is willing to take any ownership for my daughters medical needs. I get upset and angry, they they will sort it out and we won’t have this problem again, except we are stuck in the same never ending cycle of lack of care and support.

“We believe young people deserve the best we are able to give them.”

Now  5 weeks later we are still stuck, helpless and controlled by a broken system, that is not providing the car they profess to be so good at providing.

I have spent un countable hours phoning social work only to find that the  social worker is never available. I have been as high as the medical directors office only to be told that there is no one in that role this week and basically told to just suck it up and it will be resolved when it’s resolved.

“We believe young people deserve the best we are able to give them.”

The problem I have is that we still have no paediatrician.  I am chasing every other team on my own trying to find someone to help me sort these issues with my daughters health out and get us the referrals we need.

No one will help us.

Everyone just keeps saying it’s up to the paediatrician.

Yet they don’t acknowledge or recognise the fact that we do not have a paediatrician

We are moving in 5 weeks and I have no one to give a referral to the new hospital to start arranging her care.  We are trapped by the lack of current care, unless We have the referrals  from our current doctors the new hospital can not do anything for us.
All this from a hospital that proudly displays the notice above. A notice so full of good words and aspirations, yet words that mean so little, words that are not heard or thought about by the doctors who should be providing the care.  It is a sign full of worthless words.


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Helaina’s Story

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about, feelings, random ramblings

Thank you dear reader for visiting this small place on the internet.

I was asked a question today about the significance of the dance video I posted yesterday.   It is hard to express in words why this simple act of dancing in a competition was such a significant event.  So I finally decided to make this short video public. The video was made for the medical symposium held along side the 2009 conference.  I will leave the video to express the feeling and emotions as to why the dance competition was so important.

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So Proud

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feelings

For many years my daughter has attended dance classes.  When she first started to learn to dance, not only was she tiny, she was wore Ankle Foot Orthosis. (AFO’s), and had problems walking let alone dancing.  A few people said we were bad parents putting her in a dance class where she would not be able to do what the other children were able to do.

Caring for a child with special needs is hard enough, dealing with the words of others is almost impossible.  So several years later, with dance exams passed, and medals won,  I am proud to present this short video of my daughter competing in her first dance competition. Just think if we had listened to all the people who said we were bad parents all those years ago, this moment would never have come. As for the future, if you are in Blackpool over the Easter weekend,  you may even see her dance in the competition final at the Winter gardens.

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London Costello Syndrome / CFC Syndrome conference 2010

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London conference 2010

With the success of the 2009 conference which was our 6th conference held in the USA, the International Costello Syndrome Support group in the UK is pleased to announce our first UK conference.

The event will be held in London at a venue yet to be announced.  Helaina stone with her mom and dad

The proposed timetable

September 8th 2010  afternoon / evening.
Meet at the hotel, chat and drinks.

September 9th 2010
UK conference Day.


Helaina stone with mom and dad picture 2 September 10th 2010
Families will be joining with there cousin syndromes on the  same genetic pathway at the House of Lords.

We aim to bring together CFC syndrome, Noonan Syndrome, Neurofibromatosis type 1. The aim of the event is to raise awareness of this group of developmental syndromes, collectively known as the ‘RASopathies’. The Event will also see the launch of the UK RAS-Pathway network.

September 11th 2010
The aim of the final day is to have a group family day out, enjoying the sights and sounds of London.

The event is open to any CS / CFC family who wish to attend.

Pricing and hotel information will be announced shortly.


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Happy Christmas and a merry new year

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merry christmas

IMG_0006

As 2009 draws to an end, and we enter 2010 I would like to wish all our visitors a merry Christmas and a happy new year.

We have had a lot of visitors, we ended 2008 with over 1 million page views, which considering the nature of the website I thought was pretty amazing.

As we leave 2009 our page views are close to 1.9 million which is incredible.

Thank you to all our visitors for helping to make this site as popular as it is.

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Random Ramblings…

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feelings, random ramblings

Random Ramblings

Going to the conference in the US was a god send for us, in so many ways.  It gave us access to vital information that, now that we are back home and again lost in the depths of a thoroughly useless medical system, has proved to be a very very useful weapon to help get quality care for Nicola.

Unfortunately, the issues we deal with on a daily basis seem to be beyond the scope of anything our doctors have seen or dealt with…  and because of this, we are often finding ourselves stuck in the ‘too hard to handle’ category and sent on our way, with a vague affirmation to return should the symptoms persist or should she deteriorate any further.

Today was yet another classic example of this.

For the past couple of weeks Nicola has slowly deteriorated into a pattern of excessive sleepiness.  To the point that now, she will happily sleep for anything up to 20 hours a day.  If she is forced to be awake, she will cry without consolation until finally she is back in her bed asleep again.

We spoke to our surgical consultant today who assured me that the problem is most definitely not a post surgical complication and in his expert opinion, it is another problem caused by the Chiari 1 Malformation that we know she has.  He also advised that he felt it was best that we present to the local emergency department immediately for consultation with our paediatric team.

Before you read this next part, you need to understand how our medical system here works.  We are at the state’s major children’s hospital, which is a teaching hospital.  So the Consultant is the senior doctor.  He is the one that all other paediatric doctors in the team defer to.  Below him is the fellow.  She is the one that has done all of her rotations and has an understanding of most of the workings of every department and has rotated back into general paediatrics to complete her specialty.  Then below the Fellow is the Registrar.  They are a semi qualified doctor able to make some basic day to day decisions, but still well and truly under qualified for anything even remotely unusual or different (and really, what part of ANY Costello Child is usual or mainstream?)…  and then we have the Resident, fresh out of medical school, teaming with that whole megalomaniac ‘I am a doctor so I am elite’ sociopathy.

So dutifully I phone up our paediatricians.  Our paediatric consultant is only in the hospital for 9 hours a week.  Yes, that’s correct, it’s not a typo.  9.  Nine.  One more than eight, but one less than ten.  Nine.

I end up with the Fellow who is rushing out the door on her way to an all important gathering (the Melbourne Cup is on today!) and so she just tells us to present to the emergency department for immediate assessment.

So we bundle the children into the car and traipse into the emergency department, and have to sit there and tell Nicola’s life story to the triage nurse.  We finally get to see a doctor, and again, I have to tell Nicola’s entire life story, only to be told that they can’t find her medical records.  They have somehow been lost between the outpatients clinic yesterday and the medical records department across the hall.  But, never mind, they will just call our regular paediatric team in to assess her, after all, they know her best, right?

HAH!!

They bring in the registrar, who we have never met before today…  So for the third time in as many hours, I find myself getting increasingly frustrated as I once again tell Nicola’s entire life story…  only to be met with a blank stare…  and then finally the resident, who looks like she is all of ten years old, pipes up and says “So what exactly are your concerns?  Is it just that she’s sleeping and a bit cranky?  Isn’t that what babies do?”

Seriously, this is about the point where one starts fantasizing about jumping up and just going completely postal.  Visions of scenes from the movie John Q start flashing before one’s eyes…

So once again, I explain my concerns about her extreme irritability and excessive sleepiness…  I explain to them that it is very much out of character for Nicola, and I am concerned about it.  I have spoken to the senior surgical consultant and he has advised me that he believes that it’s neurological, stemming from her Chiari, and we need her to be assessed by the neurosurgeons that have been assigned to her.

Well, anyone would have thought I had asked them to go tap dancing on the moon given their reactions!  The registrar tells me that that’s not how things are done and decides that she will have to do a complete assessment on Nicola.

So the first thing she does is get Nicola to lay down on the bed so she can have a look at her…  then she turns to me and says “Are you sure she has Costello Syndrome?”

I explain that we’ve had the gene test and that it was confirmed and it was a conclusive test.

And she says “Are you sure?  Only, she doesn’t have all the classic facial features?”

I felt like saying “No, I just feel like saying it, day after day, week after week, month after freakin month!”

She gets on with the assessment and asks a hundred questions and gets two hundred answers…  and then she stands back and says “well, I think that’s it…”

“And the verdict is?”

“Oh, I don’t know, I’ll have to get the neurosurgeons to come and assess her…  it’s most likely neurological.”

Well, you don’t’ say!!!

Long story short…  7 hours later, we finally leave DEM…  we still haven’t seen the Neurosurgeons, and we’re still no closer to an answer.  We have a vague assurance that some point in the future they will contact us to schedule another MRI to be done at some other point in the future, which will be reviewed by the neurosurgeons at…  you guessed it…  yet another point in the future!

Oh what I wouldn’t give for a crystal ball right about now so I could predict the future!

But all along, she kept questioning whether or not Nicola actually really has her diagnosis correct… after all, she doesn’t seem to fit neatly into the little box that someone somewhere has created just for people with Costello Syndrome.

Nicola doesn’t have an oral aversion.  She loves foods, she loves tastes, she loves having things in her mouth and like most babies, everything that makes it into her hand goes straight into her mouth.  Now that she has teeth she is getting very good at biting and chewing and can make a right mess of pieces of meat and biscuits and rusks etc, and she can devour a piece of chocolate like a monster in a frenzy…  but she cannot swallow!  She has the same issue when she tries to bottle feed.  We know she has a weak and somewhat uncoordinated suck, but with a haberman feeder she used to do very very well and was on full oral feeds.

Apparently that is not normal for a Costello Child.

Nicola has Chiari 1 Malformation, which is allegedly supposed to be an asymptomatic adult condition…  not a condition found in a baby of 14 months, and apparently she is ‘symptomatic’ of Chiari 2 instead…  which, of course, as we all know, is totally impossible, because Chiari 1 never has the same symptoms as Chiari 2, especially not in the world of medical, tick the box and make it all fit, perfection.  And of course, it’s entirely possible that Nicola doesn’t really have Chiari at all because Costello children “often” have enlarged ventricles and droopy brains just because!  After all, how do they know that a “normal” Costello brain looks like?

So now, instead of having a medical team who ignore us and our needs…  we have a consultant who is never available, and a registrar who thinks she knows everything because she’s read a few pages on the internet this morning.

But of course, none of this is really relevant anyway, because after all, it’s all in my head.  We have an ideal medical system that never has any issues dealing with people, so I’m just a whinging, complaining, psychotic, neurotic mother.

Oh, and I’m also a bitch…  but that’s a whole other story!

:D

In love and madness!!!

Jodi

Mum to Nicola – 13 Months – Absolutely, Positively, Most Assuredly HRAS+ with a G12S Mutation!

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The Sweetest Sound…

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Uncategorized

Today my precious little girl is 13 months old and we are now 4 weeks into this hospital admission with no end in sight.

Any parent who has been in the position we find ourselves in every day knows the pain and frustration of having a child in hospital. The pain and frustration of being in such an alien environment… and I think that being a mother makes the frustration about a hundred fold worse.

From conception, as her mother, it is my job to care for her… to nurture and nourish her… to care for her and to love her… and when that role is taken away from you, there is such a sense of loss. All of a sudden, a role that is as natural to us as it is primal and instinctive becomes ambiguous.

Things that were once so natural, are now a charted and documented process and gone is the freedom of being able to make decisions that you feel best meet her needs… and the care of someone so innocent and precious is being entrusted into the hands of a stranger, who changes every 12th hour.

This admission has been even more of a rollercoaster for us than most. There have been so many things that have gone wrong in the past 4 weeks, with straight forward surgery going horribly wrong. In the past 4 weeks, she has been into theatre 6 times, had two collapsed lungs, spent 16 days ventilated, 1 day on BiPAP, 3 days on CPAP, 8 days on supplemental oxygen, 2 blood transfusions, staph, strep, entracoccus, and pneumonia.

With everything that Nicola has been through in her short little life, I have never in my life been more afraid that I was going to lose her as I have been through the early weeks of this admission. Seeing her wheeled back from theatre with her little body painted in orange and her eyes taped closed, ventilated and bagged, with so many machines connected is a sight that will haunt me for many years to come.

Even now, I still wake in the middle of the night with the alarm of the ventilator sounding with an apnoea alert or a frequency alarm and the sight of the x-rays showing her lungs collapsed and her little chest full of infectious gunk is still something that I can clearly visualise, and probably always will.

But, as with everything else, she has pulled through.

Every step of the way she has proved again and again that she is stronger than they realise. Every time I fight for her to be given a chance, she proves to the doctors that she is capable of miracles. She has smiled through immeasurable pain, and tolerated indignities that no little baby should ever have to endure. She has been suctioned and sutured and swabbed… poked and prodded and pricked… and generally just tormented to tears on a daily basis.

But today… today she has proved yet again just how truly amazing she really is.

This afternoon she suffered through the indignity of a sponge bath on her bed, when all she really wanted was a shower. I dressed her in her little jammies, when all she really wanted was to stay nuddie. I rubbed moisturiser into her arms and legs and gave her a bit of a massage, which, come to think of it, she really didn’t complain about much at all… then, after all of that, I leaned in and smothered her with kisses…

And that’s when it happened…

I heard it…

The sweetest sound ever to be heard by anyone anywhere…

Despite all her pain and suffering…

In the face of so much adversity and against all the odds…

My precious little girl laughed, for the very first time.

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Confronting The Truth

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about

Written by Jodi,  from Australia

T’Was a Tuesday When The World Ended…

Have you ever experienced that one moment where the whole world just stops? If you have, you know what I’m talking about… the moment where everything in the background kind of blurs away. You feel like your heart has stopped beating, but you know it is because it’s beating so loudly it’s drowning out the rest of the noise in the vicinity. You can feel sweat pricking on your body, but your insides have just turned cold. You have no strength, no will, no desire, no ability to focus, think or comprehend more than just one or two words…

For me, those words were ‘Costello Syndrome’.

This is the name of the great big evil horrible thing that is affecting me beautiful precious baby girl.

It still seems so hard to comprehend. I fell like I’m in an emotional train wreck.

Really, how does a person come to terms with the fact that their child, their precious, sweet, innocent baby, has this horrible syndrome, that is not only life threatening, it is also incredibly rare, so no one really knows anything about it!

When you have a child, your heart gets filled with all these hopes and dreams… you hope that your child grows up and does well in life… that they get a good education and a good job and meet a good person and have a good relationship and God willing, they start the cycle again so they get blessed with their own precious children, and they get to experience all the joy that they have brought to your life.

With those few little worlds, it felt like all my dreams for Nicola had been snatched away. Instead of dreaming that my child grows up to have a happy and prosperous life, I found myself dreaming that she will just grow up… that she will be one of the lucky ones who doesn’t have to deal with the neuroblastoma or rhabdomyosarcoma or any of the other cancers that plague these poor children in childhood and adolescence, that she won’t live a life of pain and suffering, that she won’t suffer in some horrible way.

All of a sudden, I’m playing a new and different game… the problem is, no one has told me the rules.

Most days I truly feel like Alice after she went through the looking glass. I look back on the life that I used to have, and I can’t help but think about how much easier that life was… how much less stressful…

But then I look at Nicola, and she gives me that beautiful little smile of hers… and I know in my heart that I wouldn’t change anything. She is here, she is ours and we will do everything that is humanly possible and then some to give her the best possible life we can… the life that she deserves to be living!

After all, the rules don’t matter. Rules are made to be broken.

___________________________

That was the (slightly modified) entry I made in my blog a few days after we received the diagnosis of Costello Syndrome for Nicola.

My wounds were raw… something that Colin could probably attest to. He called me the night we found out and there were a great many times I had to just stop talking because I was on the verge of breaking down again.

I felt like everything I had ever known about my daughter had been snatched away from me and smashed into pieces, and in her place was this tiny creature that really I knew nothing about.

I can’t recall how many hours I spent just sitting on the end of my bed, watching her sleeping in her cot, asking myself what I had done wrong…

Was it that one slice of pepperoni pizza I had the night the girls Godfather bought them Pizza? Was it the soft serve I ate in the city in a moment of weakness?

Did I not take the prenatal vitamins early enough? Did I miss something else?

What did I do that could do this to my precious child?

I still lapse into those thoughts from time to time… I find myself wondering…

But oddly enough, now, only 6 weeks later, I can’t imagine my life without her being just the way she is. She is a whole new level of perfection, and already she has taught me so much, and I don’t mean just the medical skills.

Nicola has taught me patience and tolerance. She has taught me a whole new level of acceptance and understanding.

Nicola has taught me how to love in a way that is more fierce than anything I ever thought was possible… and she has taught me how to fight, not just for her, but for everyone else that is just like her… and already we have achieved miraculous things that we never thought would be possible.

Recently I received an email from someone who shared with me the story of their own precious Costello Angel who has grown their wings… a story that reduced me to tears and kept me there for the rest of the day.

It was with that story that I realised that the confrontation for this condition hasn’t ended.

There are so many beginnings and so many endings… there are so many chapters in this story…

Some days I dare not turn the page for fear of what the new chapter may bring.

The reason I’m sharing all of this now is because today has been one of ‘those’ days…

One of those days where everything is just all too hard. I don’t want to deal with the truth, I don’t want to deal with the doctors, I don’t want to deal with the medical stuff… I just want one moment of normalcy in my life…

Tonight when I was doing Nicola’s speech therapy and giving her a bottle I discovered that she has cut her first tooth.

And that was it…

In the midst of all of the frustration and the confrontation…

As if she knew that tonight I needed it the most… my beautiful little girl had given me the one moment of normalcy I wanted.

Now, my wounds are still raw… I will still go to bed tonight questioning how I will get through tomorrow, or next week, or next month (especially travelling internationally with a high needs infant!)…

My heart will still break when she cries in pain… and I will still question the fairness of life when I see my older children taping nasogastric tubes to the faces of their cabbage patch dolls and listening to their tummies with stethescopes…

I will still battle with the medical system tomorrow for her care, and I will still seek out new ways to make her life better… I will still fight for her, and for every other person out there like her…

But now I can look forward to being surprised by silly little normal things as well.

Kindest Regards,

Jodi

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