Our Family

Our Family

Saturday, 25 May 2013

9 Days and counting.

So, not a short stay then. We have been on and off oxygen for the last nine days. We have Broncilitis once again. With TWO different bugs this time. Adenovirus, and rhinovirus.

Robyn and the Gruffalo
She's doing well considering. And in relatively good spirits. Just a typical stay. The nurses have been doing the usual panic whenever she vomits, doesn't seem to matter how many times I say stuff is 'normal for Robyn'

Been a bit of pressure this time round to get a PEG tube (feeding tube surgically placed into her stomach)  fitted. They sent someone down to talk us through the tubes. However all it did was solidify for us that we are NOT having it done the way they want.

The PEG is a long tube similar to the one in her nose. We had been told that it would stay in for six weeks while the operation site healed and would then be changed for a 'button' which does the same job but sits flush against the outside of her stomach with no external tubing. We want to skip the tubing stage and go straight to having a button. It stops us swapping one tube for another and also reduces the number of times She needs to be under anaesthetic. But  Ninewells wont fit a Button in the primary site, it can only be done at a childrens hospital so it looks like IF we go ahead with fitting a G-tube then we will be combining it with  her ENT surgery at Yorkhill. Might not be a bad thing though really.

Thursday, 16 May 2013

...And The Bad News

So I got up today and after not being admitted yesterday looked at Robyn puking up just her medicines before she even had anything to eat today and knew we had to take her to hospital to be checked over. When we got there it was a bunch of familiar faces nurse wise but a new doctor. He said she seems ok alert and not needing oxygen while awake i would only keep her if she needs oxygen while asleep. The nurses who were familiar with her have seen this before though. She fell asleep (which she never does for more than ten minutes during the day unless shes sick) and straight away the monitor started alarming on went the oxygen and  the senior consultant admitted her.

The new doctor looked a bit put out but meh. Teach him to listen when i tell him something is wrong then something IS wrong.

So we are back in hospital with bronciolitis once again :-(

Hoping for a short stay this time, but of course by short I mean anything less than ten days.

The Good news...

Yorkhill review went pretty well. Cardio did an ECG and echo and after much discussion have officially labelled the leak on her tricuspid valve 'mild to moderate'. So thats good news. No further surgeries for the moment and her heart isnt casuing her any issues.

They also did a chest X-ray while we were there as she was sounding a bit sicker than usual but there is nothing unusual on there. Her heart is now an average size all over.

We spoke to ENT and he feels that the slight issue of not being able to pass an NG tube easily on one side probably relates to granulation tissue (healthy scar tissue) that formed around her atresia repair. He says there is a very short op he can do to stretch the tissue to help her breathe a little easier but that she shouldnt need any more stents. Yay!

A further yay is that ENT are also keen to reduce the number of procedures under anaesthetic that Robyn has and so is happy to combine his procedure with having a G-tube fitted (if we decide to go ahead with that). This would mean A) we could skip the queues in Dundee as there is quite a long waiting list for it here and B) they shouldn't have issues with going straight to the Mickey button rather than fitting a PEG tube first which we think we might have an issue with if we are having it done at Ninewells.

So overall pretty good trip to Yorkhill. Despite the very poor colour of Robyn yesterday and the excessive vomiting (4 outfits in total yesterday). At one point I was convinced they were going to keep us in up there but they didnt. So home we came. However we woke up this morning and that then led to The Bad News...

Sunday, 12 May 2013

Yorkhill Round Three.

Robyn has a follow up review at yorkhill coming up this week. The cardiologist comes to review her locally most of the time but the last check up showed a leak in her tricuspid valve. She said on its own it's not something that would worry her normally but with the previous issues she is concerned it might be an issue for Robyn's heart to cope with it all.

She wants to do a more indepth scan with the better facilities that Yorkhill have and also she wants to be able to get the surgeon who operated on Robyn previously to have a look and get his opinion also.

Really hoping that a check up is all it is and that there isnt more surgery in Robyn's future. The appointment is outpatients but last time we were only going for a weekend so we will be packing an overnight bag just in case she gets readmitted.

While we are there her ENT Surgeon is also going to give her the once over to ensure the choanal atresia repair is doing fine. We are pretty sure it is but again when you know they are going to check something the niggling doubt starts to creep back in.

Fingers crossed for Robyn this week please.

Will hopefully be able to update in a few days with good news all round

Friday, 10 May 2013

Holland and Italy

Some parents of Children with additional needs have told me they found the Holland/Italy story patronising. However the first time I read it was the exact right time for me to see the other side and appreciate what it is trying to say. I think because I came across it myself and didnt have any well-meaning people who don't really 'get it' trying to tell me that this was how I should feel about my situation.

I see the beauty in the story as I am lucky enough to have been able to visit both Holland and Italy.


When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo, David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.

After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."

"Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."

But there's been a change in the flight plan. They've landed in Holland and there you must stay.

The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.

So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.

It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts.

But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."

And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very very significant loss.

But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ... about Holland


Thursday, 9 May 2013

CHARGE Syndrome - A different perspective

This was taken from a post on the CHARGE group on facebook. I copied it a while ago but forgot to take note of who actually composed it. I do remember him saying it was ok to use it as he wrote it for an educational statement for someone.

I would love to credit him so if anyone knows his name feel free to comment so I can update the info.

CHARGE syndrome can fool you. Because children with CHARGE often exceed all expectations for what they "should" be able to accomplish, the extent of their disabilities can be overlooked. Persons with CHARGE are multisensory impaired. The debilitating effects of this are staggering and hard to even imagine. We take our senses for granted. It is possible to understand that being deaf or being visually impaired would be difficult, but when the combination occurs alongside vestibular, proprioceptive and olfactory deficits, often accompanied by tactile defensiveness, it is hard to imagine how they make sense out of the world. Then throw in things like heart defects, swallowing and breathing difficulties, chronic ear and sinus infections, gastrointestinal pain, and on and on, and suddenly what children with CHARGE accomplish becomes heroic. But far too often these achievements are taken for granted, and people are suddenly shocked when the child is unable to accomplish something, particularly an emotional or behavioral challenge. Even with the wide variability in ability and disability in children with CHARGE it is important to understand that they are dealing with staggering obstacles, and deserve to be given as much allowance and understanding as possible.

CHARGE Syndrome / Association - Diagnosis

The Doctor who gave us our diagnosis was very careful not to freak us out. She told us that the letters of the word CHARGE stood for each type of symptom, but never elaborated on WHAT they actually stood for. She told us a bit about colobomas, hearing loss etc etc. Honestly I was glad it had a name finally.

So we headed home and straight for Google - as you do.

Straight away it clicked why she was so cagey, no one wants to say the word 'retardation' these days. Even if it is in relation to growth and not mental ability. But the definition was written in 1979 or something when the condition was labelled and its just never been updated. Its not really used in diagnosis anymore but it still stands just cause it always has I guess. The definition is below with the slightly more PC 'R word' in place.

C- Coloboma of the eye / Central nervous system anomalies

H- Heart Defects

A- Atresia of the Choanae

R- Restriction of growth and development

G- Genital or urinary defects

E- Ear anomalies and/or deafness

These are the major features of the Syndrome (which is technically an association and not a syndrome but thats the most commonly used term). There are also a lot of minor features too. It used to be a clinical diagnosis could be given if a certain mix of the symptoms were present. However recently there was a gene mutation associated with the condition. The gene CHD7 which is linked to develpoment in the very early weeks of pregnancy is mutated in around 50% of cases of CHARGE.

Robyn does have the gene mutation so her CHARGE developments were already in place before we knew she existed. In my very first post I listed several things that were  noted during my pregnancy ie enlarged ventricles, polyhdyroamnios, the heart defects, and when Robyn was first born I commented on her ears being a bit different. These four things combined with the Choanal atresia (which caused my polyhydroamnios) should have been enough to make a diagnosis of CHARGE at birth if the doctors had been aware of what to look for. Recently I was asked if i felt CHARGE should be on the list of Syndromes being routinely checked for and honestly I am unsure. It is so rare with cases of only 1 in every 10,000 that based on the numbers I would say no, but if even one doctor had listened to me we could have had a much earlier diagnosis.

Currently Robyn's particular case of CHARGE presents with:

  • mutated gene CHD7
  • Heart defects (coarctation of aorta and AVSD)
  • Bilateral choanal atresia
  • Very soft outer ears
  • Mixed Hearing Loss to an as yet unkown degree requiring hearing aids
  • A coloboma on her left eye. Not visible and as yet unkown effect on her vision
  • Growth issues mostly relating to feeding issues and time spent in hospital
  • She is tube feeding - currently NG tube but possibly moving to a G-tube soon
  • Hypotonia in her upper body
  • Develpomental delays due to time in hospital
Every case is different and there is such a wide spectrum it is near impossible to judge what Robyns potential currently is. Currently she looks and smiles, babbles and kicks, reaches and grabs. She can almost roll over.

Robyn is 8 months old but developmentally is more like a six month old. I am hopeful that given enough time out of hospital she will catch up to her peers.

I think this covers the most part of the last 8 months of Robyn's life and the last 14 months of mine. My little girl is a madam and kept me on my toes since the day we found out about her, but we love her none the less.

Robyn at 8 months old

Bug Season and trying to go home

Robyn  was finally discharged from hospital for the very first time on the 20th of November at 11 weeks old. We were so happy. We took our baby home and she spent time with us and her brother, fianlly met some of the family who couldnt visit her in hospital. We took hundreds of pictures and just were generally glad that was all over.

Going home for the first time

Tyler and Robyn together at home for the first time.

It lasted three days.

Robyn it seems will always be prone to having a very hard time with upper respiratory bugs. From the end of november to the beginning of february she was admitted to hospital no less than 6 times. She had bronciolitis, a common cold,  paraflu, RSV+ bronciolitis, breathing difficulties which resulted in an ambulabce trip to A+E, and a mystery bug they never identified. The shortest stay as you can imagine was for the common cold. But this cold, that on my son was merely a runny nose resulted in a ten day hospital stay for Robyn which required oxygen treatment and nebulisers. Our times at home varied in length, 3 days, then 5 days, slowly building up to her current record and stint at home which is currently 7 1/2 weeks.

Over the course of the winter they have decided checking Robyn's immunity might not be a bad idea. The first test showed a lack of response to her immunisations, the second test is showing low counts of CD4 and CD8 cells, which i'm told means that in a situation where a normal baby may not be given antibiotics Robyn would be given them.

It was during the course of these many stays that we were given Robyn's diagnosis of CHARGE Syndrome. Yorkhill as I have said got the test results back on the 14/11/12. However they chose not to fax the results to our local hospital until the 13/12/12. I was told of the diagnosis on the 18/12/12. More than a full month after the results came back. Normally I sing Yorkhill's praises but on this occassion, Major Fail on their part.

Post-Op and PICU

PICU is not an easy place to be. Sometimes I feel Robyn had it easier than most as due to the ventilator she was kept mostly sedated during her time in PICU. There were some very poor souls in that PICU. Hearing them cry was heartbreaking. We were in the process of making friends with another mummy who was also staying in Ronald McDonald House when her little boy sadly took a turn for the worse and passed away. He was also just a baby, it was devastating. Its a horrible mix of guilt and relief. I have never felt as sick as I did one day when the ward was closed to parents due to an 'incident with one of the kids' I went for a walk and came back to find the ward was open again and as i buzzed to get in was taken aside by a nurse. I was so convinced they were about to tell me the incident was my baby had died. (she hadnt but i ended up going crazy at the nurse for the whole way she took me aside when i found out it was for something stupid)

Robyn the day after her heart surgery.

Robyn three days post surgery.

Robyn was weaned off sedation enough to check she hadnt sustasined any injuries during the op and seemed to be recovering well. 9 days after her heart operation her ENT surgeon went ahead and began repairing her Choanal atresia. That op was quick and successful and she had Stents fitted into her nose which were to remain in place for six weeks. She was weaned off the ventilator onto C-pap and then eventually onto air. I was allowed to hold her for short times and was finally allowed to dress her in some clothes for the first time. We spent a total of 18 days in PICU before being discharged to the ward.

Robyn after her stents were fitted but still on the vent.
Robyn with stents but weaned onto air.

At this point Robyn weighed only 5lbs 11ozs a whole pound less than her birth weight, so feeding became a priority. She had difficulty co-ordinating feeding with the stents in though so progress was slow and she was still using an NG tube regularly to ensure she was getting enough volume.

Robyn at her lowest weight

After a total of 6 weeks we were discharged back to our local hospital with stents still insitu. We spent two weeks there working on feeding until the six weeks had run out and the stents were removed. So far there has been no indication that the atresia have closed over so hopefully no further surgeries will be required for this.

Being closer to home at least meant more visitors

We were finally discharged back to our local hospital for good on 5/11/12 when Robyn was 9 weeks old. This is a total of 4 theatre trips under general anasthetic already. We were unaware at the time but Geneticists at Yorkhill had taken samples of Robyns blood to try and find an underlying cause for all of her issues. They already had suspicions of CHARGE Syndrome but we were not told about this until much later, even though Yorkhill received official notice of the diagnosis on 14/11/12.

The first picture of Robyn with no tubes in.

The worst conversation...

4 Days post partum, baby has been in an incubator all that time, I have held her once, but was so out of it on Gas and Air I cant remember it. She was taken from me put in a helicpoter ambulance and flown to another city. The hospital then refused to discharge me for FOUR hours as my blood pressure was raised. (Cant think why) and so we finally said good bye to Tyler and got to Yorkhill after tea time. Having been up for more than 12 hours of a very stressful day they then sit me down with a cardiologist and an ENT surgeon to discuss Robyn's care.

They were very careful to ask me what i already knew first. they then handed me a box of tissues and said 'Mum's always cry during this conversation'

It IS very hard to sit and be told that your baby needs heart surgery ASAP, she shouldve been on medication since she was born to slow her hearts development to give us more time but she hasnt had that. Particularly when the other hospital told us it could wait. The cardiologist laid it out bare and was the first person to be truly honest with me. His simple summary was, your baby needs surgery on her heart, she MIGHT die as a result of the surgery. The alternative is no surgery and she WILL die without the surgery. So not an option then really.

He also told us our intial weekend in Yorkhill was actually looking more like months worth of a stay instead of even weeks.

The 'simple' diagram the cardiologist drew to explain her condition.

It was decided her heart should take priority over her choanal atresia as a vent could help her breathe in the meantime. The big decision was wether to do one surgery or two to fix both problems. Seperalty the surgeries are less serious but still has the risk of being two surgeries close together. Doing one surgery makes that one much riskier.

We had three days of waiting in limbo while the doctors talked out all the possibilites amongst themselves. Eventually it was decided to do one procedure. However as the coarctation of the aorta and the AVSD were in opposite areas of Robyn's heart it would have to be an open heart procedure.

The date was set for the 12th of Sept 2012. When my baby would be just 8 days old.

We brought Tyler through to join us to see her off for her operation (It's horrible that i was thinking if she didnt make it at least he had a chance to say goodbye). And we settled in for the longest day of our lives.

Our first family picture the morning of Robyn's surgery

The operation ran over of course. 2 Hours after the expected end time we finally received news. She was alive and doing as well as could be. She was in PICU and we could visit with her soon. The surgery hadnt gone totally to plan and they had had to stop blood flow to her brain to complete the coarct repair which they had hoped to avoid so there was a possibilty of damage but that as she came round from the morphine that would be assessed. But I was just thrilled she was still alive.

The First 'Operation'

Robyns labour was much more traumatic for me than my son Tyler's had been. All I remember as she was born was waiting to hear her cry and as soon as she did thinking ok can relax now. Then its all a bit of a blur.Hubby cut the cord as he did with Tyler. Doctors told me they wanted to examine her as her colour wasnt good, we had been expecting that, I insisted Hubby went with them. They were gone for a few minutes while I was stitched back together. The doctors then told me Robyn needed to go to SCBU. Again this was expected but the midwife insisted I at least get to hold her first. Then she took a few pics of me and hubby with the baby. I dont remember them being taken but I have seen them so know it happened. Then she was gone.

First pics with Robyn

It was three hours before I was allowed to go and see her. She seemed happy enough and sleeping so after a while we left her to sleep and I went to get some rest. Not being used to the environment it didnt occur to me to ask why they were using an oragastric tube (feeding tube in her throat) instead of a Nasagastric tube (feeding tube in her nose). I was blissfully unaware of any new problems at this point.

Robyn in her incubator.

The next day we were told about the tubes and that the Oral tube was unusual, that NG's were the preferred option. They then went on to explain that they hadnt been able to pass a tube into her nose. They did some tests (I cant remember what exactly possibly an x-ray, possibly an MRI) to see if the blockage was bone. They confirmed that Robyns nose was blocked by bone and membrane almost to the point she couldn't breathe through her nose at all on both sides. This condition is called Bilateral Choanal Atresia. I was told it could be repaired under General Anasthetic and that this wouldnt be an issue with her heart conditions, which were not serious enough to be operated on straight away. We consented to the procedure to have stents (small tubes) placed into Robyns nose. A few hours later we were told the procedure was too delicate and that while in theatre it had been decided to transfer us to Yorkhill Children's Hospital where more specialised surgeons could carry out the procedure. We were told we would be in Glasgow for a weekend then transferred back to Dundee, so we planned for our son to spend the weekend with his cousins and while Robyn was transferred in a helicopter ambulance to Yorkhill we drove to meet her

A Positive place for newly diagnosed parents of any special needs.

My First pregnancy was unremarkable. Aside from the fact it took us 18 months to conceive and as we were trying found out at around three weeks into the pregnancy that i was expecting. I had the usual sickness, strains and pains associated with pregnancy. My labour was uncomplicated and my Son was born healthy and happy. A fact I dont think I fully appreciated at the time. I love my son, he is a wonderful easy going little boy who loves his Daddy and I do feel slightly guilty for turning his world on its head so very quickly.

Tylers first picture

8 months after he was born we discovered pregnancy number 2 already into its 11th week. Amidst all the 'wow what a small age gap, was it planned?' rudeness we marvelled at how lucky we were to have skipped the early weeks. That this pregnancy would fly in quickly as we were already a third of the way through. A week later we had our first scan. This included a nuchal fold measurement and a blood test to assess our risk for Downs Syndrome. (We had only had the blood test with my son just a year previous and were low risk so were expecting the same again). We were shocked to then be told our risk was high for Downs at a ratio of 1:144. The measurement itself was the very top of the 'normal' range at 3mm, and this combined with other factors like my age etc gave us our final result. And so our journey began.

I declined amnio testing at this time as we knew no matter what we would continue with the pregnancy and did not want to risk a miscarriage as the odds of miscarrying were higher than the chance of Downs. At our next scan at 20 weeks our technician was very thourough in checking every aspect of our baby due to the already high risk. For this I will always be grateful. The technician after confirming with another doctor told us that our childs heart was not developing normally. It was showing potentially a Coarctation of the Aorta as well as a significant difference in size between each side of the heart. I say potentially as at this time babys heart is only around the size of your thumbnail so it is very difficult to be exact. We were told often this condition is missed prenatally or misdiagnosed. We were given another apoointment with a Cardiologist to confirm their suspicions a week later and as they were so desperate to give us some good news we allowed them to tell us the sex even though we hadnt wanted to know but had said we were hoping for a girl. Both agreed Baby was a girl and so this gave us some light to cling to during all the worry.

A week later our cardiologist confirmed the potential diagnosis. We were asked again to consider an amnio and again refused for the same reasons as before. We were told baby may need surgery at birth and would be monitored during the rest of the pregnancy with extra scans as if her condition was serious enough we may be transferred to Glasgow for delivery so she could be treated at Yorkhill straight after birth.

At our next scan they discovered Baby had enlarged ventricles in her head (98%ile so the very top end of 'normal')  as well as excess fluid (polyhydroamnios) surrounding her. Two more soft markers for Downs Syndrome. At this point with so many soft markers My husband and I had begun to accept our daughter was going to have Downs and so at 32 weeks we finally opted to have the amnio so we could know and prepare for certain.

The results came back clear. Our baby DID NOT have Downs or any of the other commonly tested for conditions. It appeared that her heart condition was actually our only major issue.

A month later I was diagnosed with Gestational diabetes. I was told I would be induced at 39 weeks as this can cause very large babies upwards of 10lbs. They had decided at this point that the coarctation while still present was not severe enough to mean I had to deliver in Glasgow (phew).

At 38 1/2 weeks, on the morning of 4/9/12 I got up to go to my final scan and noticed a familiar nagging pain in my back. I had my scan at which they diagnosed an AtrioVenticular Septal Defect (AVSD) or hole in the heart as well as the coarctation which had continued to be present. I had to wait a long time in the hospital midwife clinic as it was very busy that day. During the long wait I knew i was in labour. So whilst trying to not freak out the other pregnant ladies i quietly laboured in the waiting room and got my son to nap so i could get the midwife to examine me properly. They confirmed I was in labour but not far enough along to stay in yet which i knew. So we went home, hoping it would ease off as the sitter for my son was all booked up for the induction a few days later.

As soon as we were home, around 2pm I got a phonecall from the hospital asking me to come back. Labour suite was empty and all the professionals who wanted to be present for Baby's birth due to her issues were all available right then. They wanted to break my waters due to the polyhydroamnios. So it was a mad dash sorting out a sitter for My son then back to hospital. Baby Robyn was born at 7.31pm weighing 6lbs 11ozs. (where was the rest of my mega big baby?)

The five highlighted issues were to prove of great significance several months later when Robyns diagnosis was fianlly made.