Select Page
Robert’s Story

Robert’s Story

by | Jun 27, 2022

Robert

;

Robert’s Story

Robert is an undiagnosed child. Multiple Pituitary Hormone Deficiency has been identified as a part of his condition and treatment is able to be given for this. Here his Mum tells us about Robert’s first year.

I had a problem free pregnancy and at 35 weeks I was stood talking to a colleague when I realised my waters had broken (like something from a comedy film) and I should possibly go and be checked out at the local hospital.

That night our beautiful boy was born and despite arriving safely he stopped breathing and had to be whisked off to the Special Care Baby Unit.

Once I was sorted out and on the postnatal ward I sat there for hours with a little instant picture of Robert, on my drip, being brought cups of tea and toast. I kept asking to go and see him. I kept being told that a doctor wanted to come and speak to us. I was totally naive at this point,oblivious to the fact this could mean something bad. I also remember being elated to get my own room, but with hindsight this was probably also not a good sign.

Hypopituitarism story

A Neonatal Consultant and the nurse looking after Robert that day came to speak to us, as soon as they arrived I realised the game had changed. We were told Robert had deteriorated and was needing a lot more support from the ventilator. He was also floppy, they suspected a brain injury and were cooling him to prevent it getting worse. He looked a bit unusual and they thought he probably had some sort of syndrome. The future for him was uncertain, he might have profound disabilities or he might be relatively “normal”. Nobody could say and it would be a long road before we got any answers.

The consultant delivered the news so clearly and so well but I think my heart broke into a million pieces during that conversation. The fact that Robert was going to face a lot of challenges did not really sink in, I just wanted to know if he was going to live. There was no worries about that.

I wiped my tears and realised I needed to see Robert. A kind healthcare assistant got me sorted and wheeled me down whilst my husband called our families to update them.

I saw Robert lying in his little babytherm cot so small and helpless and cold and I loved him more than anything in the world.

In the next few days instead of the predicted improvement everything got worse and I was scared at one point as the doctors seemed to really be scratching their heads. The plan of getting him off the ventilator was not working, he needed to be switched to the oscillator as he was struggling so much. His blood pressure was very low, and it would only remain stable with cortisol. Robert was tested for various conditions, some horrifying, none with a great outlook, and these tests had all come back negative. A blood test showed his T3 (thyroid levels) were rock bottom which is when a pituitary issue was first suggested. I didn’t know anything about pituitary glands apart from it was something to do with puberty from year nine science. We had a lot to learn.

A doctor who is now Robert’s Endocrine consultant came into the Intensive Care area one day. I stood there baffled as she said she thought Robert had an issue with his pituitary gland, and if medications were given he would be able to breathe without the ventilator. I must say I was a bit dubious but a few days later he was back on a normal ventilator, instead of the oscillating one, and then one day when I went in I was told he had pulled out the ventilator tube whilst the doctors were trying to get blood. When he was nine days old I was finally able to hold him for the first time.

In the next few weeks the massive improvement we had been expecting didn’t come. He was still working hard to breathe and tube feeding was a nightmare. At this point his endocrine issues were stable apart from the fact he kept becoming hypoglycaemic so it was decided he should start on Human Growth Hormone and this seemed to do the trick with stopping his hypoglycaemic episodes. It was hard to inject such a tiny, skinny baby but it has quickly become part of our routine.

After 8 weeks in SCBU Robert was transferred to the respiratory ward in the Great North Children’s Hospital. This was excellent preparation for coming home and we started to feel like he was truly our baby as we were fully responsible for him.

He got home just before Christmas 2014 after 81 days in hospital but that wasn’t to be our happy ending. At this point he had a nasal pharyngeal airway (a tube we had been taught to put down his nose), as it had been discovered his upper airway was floppy. This was a nightmare to look after at home and to be honest he was still quite poorly. He was readmitted in the January and it became apparent a tracheostomy was the best option for him. We were horrified at the prospect but it has been the best thing for him being able to breathe well he was finally so happy.

Undiagnosed and hypopituitarism

He has been through another op, a Nissen’s fundoplication to stop him vomiting all the time and had a mickey button (a feeding tube into his stomach), which again whilst very worrying has helped him enormously. Not constantly being sick means he has gained weight and his development has come on in leaps and bounds.

Robert finally was able to have an MRI scan of his head, which showed his pituitary was not formed correctly. Thankfully the rest of his brain looked OK. This confirmed he did have MPHD as the normal chemical tests were not possible due to him presenting so dramatically when he was born.

Happy Robert

We have been told to wait and see how Robert will develop, as he is overall an undiagnosed child, with MPHD as part of a wider suspected syndrome. We see him making excellent progress all the time and cannot wait to watch him grow and make more memories together as a family. We are sure as he grows his MPHD will present more issues, and we are thankful to have the CGF support group to consult for reassurance and advice. We are fortunate to receive excellent care for him at the Royal Victoria Infirmary in Newcastle.

As well as the CGF the following groups have been very helpful to me and I would recommend them if your child faces similar issues to Robert.

Truks
http://tracheostomysupport.org

This is an excellent support group on Facebook for parents with a child with a tracheostomy.

Swan (Syndromes without a name)
http://undiagnosed.org.uk

This group is for families with undiagnosed children. There are also local groups on Facebook who have meet-ups and events.

Wilf

Wilf

by | Apr 14, 2022

Wilf

;

Finding my voice: from mouse to Mama Bear

By Martha

“Just treat him like any other baby once you get home. He’ll be fine,” said the paediatrician, cheerfully.

“Really?” I thought as I looked down at our newborn son, all saggy skin and strange, long fingers. “Don’t cause a fuss. The doctor knows best,” I told myself. I smiled and nodded, happy to be leaving hospital after a difficult pregnancy, numerous growth scans (which were all ‘fine’?!), and a three-day stay in the neonatal unit to stabilise our baby’s blood sugars after birth. And so began our journey towards understanding the subtle – but profound – effect that SGA has had on our boisterous, infuriating, inspiring, wonderful son, Wilf.

I don’t think I’ll be giving anything away by revealing at this point that the paediatrician’s advice was decidedly unhelpful, dangerous even. But it was a piece of advice that I would hear again and again over the next few years as Health Visitors, GPs, doctors, and teachers failed to listen when I tried to explain that I thought there was something a bit amiss with Wilf.

 “It isn’t reflux unless it flies across the room!” I was told by one Health Visitor as I held screaming Wilf who had just been sick for the umpteenth time that day. And so, I went home and tried my best to breastfeed a hungry, sicky baby.

Newborn SGA
SGA - Small Gestational Age

“He’s nearly one. He shouldn’t need a night-feed any more. Perhaps try letting him cry-it-out,” advised another Health Visitor. And so, I went home with my sleep-adverse toddler and withheld what I now realise were much-needed night-time calories.

 “Hypoglycaemia is rare in children. Come back if it’s still a problem when he’s seven,” said our GP when I took four-year-old Wilf to see him because I was concerned about his eating and growth. (He’s seven and it’s still a problem).

“No, he can’t have any extra snacks because then all the other children will want some,” explained a Reception teacher after I tentatively suggested that his hyperactive and disruptive behaviour in the classroom was worse when he was hungry. And so, I went home and hoped that he would ‘just grow out of it’ like everyone promised, ignoring the little voice inside of me that was whispering, “something’s wrong.”

It was late one winter’s night in 2018, after yet another difficult day when I had been called into school to discuss Wilf’s behaviour, that I stumbled across the Child Growth Foundation’s website. I was feeling pretty low and desperate, but I saw that there was a helpline and resolved to call it the next day. This turned out to be a life-changing decision for our family. A friendly voice answered and I explained my sorry tale while trying not to ramble or cry too much. After listening patiently, the voice said words that I’ll never forget: “SGA is a condition and you need to start thinking of it like that.” Ping! Light-bulb moment! Looking back, it seems ridiculous that, until this point, nobody had explained to me that my son had been born SGA and that this could have life-long consequences.

I spent the next fortnight furiously Googling ‘SGA’ and ‘low birth weight’, getting much of my information from the CGF and MAGIC Foundation websites. I complied a list of the characteristics of SGA children and it was like reading Wilf on a page. Born below the 3rd percentile. Tick. Frequent spitting up. Tick. Inadequate catch-up growth. Tick.  Hypoglycaemia. Tick. Motor skills delay. Tick. Tick, tick, tick… And there, at the bottom of my list: increased risk of ADHD. Tick?

And so, that’s where we think the next stage of our SGA journey will take us. Wilf is currently on the waiting list for an ADHD assessment which we hope will take place at some point in the next few months. I’m sure many parents would be devastated to learn that their child might have a neurological disorder, but I’ve sensed since before he was even born that Wilf would be a bit different to other kids. He dances to the beat of his own drum, and that’s just fine by us.

I’m unrecognisable from that first-time mum who smiled and nodded at the hospital paediatrician, not causing a fuss. I might not have a medical degree, but over the past few years I have become an expert in my son and I’m sure I could give most doctors a run for their money when its comes to understanding how SGA can affect a child and their family. The CGF has been key to all of this. Just knowing that there is a group of people out there who ‘get it’ and will have have your back when you need them has given me the confidence to be the mum I want to be. I’m now most definitely a mum who will cause a fuss. I am a Mama Bear. I am Wilf’s mum: hear me roar! (please. If you don’t mind).

Small Gestational Age
Skye

Skye

by | Sep 18, 2019

Skye

;

Skye’s Story

When Skye was born she was this perfect little bundle we had waited so long for, (six years to be exact). She was perfectly proportioned but petite at 6lb 71/2oz. As the weeks and months went on, we noticed that she was still perfectly petite, she had gained 5lb in six months.

In the first two months Skye had severe reflux diagnosed and we started weaning to try to help with how much she was bringing back. The following six months she only gained two pounds and we were now seeing a general paediatrician and dietitian. Skye was put onto a very high calorie diet and we started to be referred to other consultants to try to find out why she was failing to thrive.

At one Skye had gained a total of seven pounds and was still in 0-3 month baby clothes, she didn’t look ill, she didn’t seem ill. To be honest we were not too concerned at this point because she was just this amazing little person who was happy and meeting all her milestones. People would stop in the street and stare at her because she was so small and looked very young but she was walking and talking.
We saw no end of specialists that her general paediatrician sent us to find out what was going on but we found no answers as to why she seemed unable to gain more than a few pounds.

At two years old Skye weighed 17lbs, she was still meeting her milestones and seemed happy and healthy. Our paediatrician referred us to our current endocrinologist, we walked in and she said ‘I know what’s wrong with her’ it was such a relief. Although she was happy and seemingly healthy, she had endured no end of testing from so many doctors to try to find out what was wrong, the relief was monumental.
We were referred to Great Ormond Street to have her stimulation test. We went in February 2009, Skye was two and a half, we were admitted overnight and within a few hours of starting we were told that she produces next to zero growth hormone. They told us we needed an MRI to check her pituitary gland before starting growth hormone. We had the MRI done and were told that Skye’s pituitary gland is back to front and deformed. At this point we were told her other hormones seemed fine but to be prepared that they may fail over time.

 It was a scary thing, although we had an answer, we also had this lingering dread that at any time she could lose one or all of her hormone production. We didn’t know what the future would hold and that was tough.

On Skye’s third birthday we started her growth hormone injections. It was so traumatic. Skye is needle phobic, as am I. It took both myself and my husband to pin her down to give her injections. We even tried strapping her into car seat in desperation. The first year was like a horror story. We felt like we were abusing her because she was so strong, and she was adamant she didn’t want them. She screamed, kicked, bit, scratched anything to get away. I cannot put into words how hard it was to do that to her.

After the first year we started using Emla cream, it was a game changer. Although she didn’t want them. she could now tolerate them.

At five Skye started saying she would do anything to stop the growth hormone treatment, I told her she had to talk to her doctor. We went to Great Ormond Street Hospital and she told them she wanted to stop, they responded by offering her any device she wanted. She was given all the DVDs to watch and asked to decide which one she wanted. Over the next week we watched them all and decided to go with the Easypod. We called them and they organised the delivery and training for it.
It has made a huge difference to her treatment; 100% she would still stop tomorrow if she could, and asks at every clinic appointment when she can stop but it was what she needed; she needed to take control as much as anything.

At about six Skye started to get headaches regularly and was tired all the time. We had some bloods and confirmed her cortisol was low. Initially we were going to be given a two-week course of hydrocortisone and then wean off it, but during the two weeks she became a totally different child. We hadn’t realised how quiet and still she had gotten in the few months leading up to the trial. We agreed that Skye would stay on hydrocortisone permanently and that’s when she became steroid dependant.

The following five years were pretty uneventful, she had a couple of adrenal crises but generally, she was well.

In 2019 she began to collapse and go into adrenal crisis with no warning. This changed everything, she couldn’t go anywhere alone, she needed someone to be responsible for her injection wherever she went.

Thankfully, after she collapsed at a St. John Ambulance cadets’ summer camp, the doctors started to take it more seriously, previously they had suggested that she was having panic attacks. At camp the staff are all paramedics, nurses and other health professionals, so we knew that there was something more to it. After she was discharged from the hospital, they allowed her to go back to camp. I thought they were mad, but I trusted them and their ability to look after her.

They started to track her blood sugars and it showed that she was having hypoglycaemia. Even with this information it was hard to get anyone to take it seriously, after all her medications are supposed to help regulate blood sugars. Over the next six months we continued to monitor her sugars at home when she wasn’t feeling well or looked pale. In November her hypoglycaemia had gotten out of hand, she had collapsed without warning six times in total. Her sugars were in the ‘2s’ all the time. She was so lethargic and miserable. Her vision was also deteriorating. She was admitted and within 24 hours we were told that she has now also lost her thyroid function. We started treatment for that and discussed the hypoglycaemia with her team. We agreed that she would have a Libra monitor fitted to continually monitor her sugars for two weeks. It showed her low blood sugars so we decided that we would try to increase her growth hormone and maintenance hydrocortisone to see if that would help. Thankfully it has made a huge difference.

She is now dancing around the house, making a massive amount of noise, being generally annoying.

Now to the stuff that is going to make her cringe……….
She has very early signs of puberty but at 13 1/3 I’m worried it’s stalled. It may be just that because other hormones were wonky it interrupted a bit but only time will tell.

Jacob

Jacob

by | Sep 18, 2019

Jacob

;

Jacob’s Story

During pregnancy Jacob was not growing as he should from around 25 weeks. I was scanned fortnightly and offered the amniocentesis as measurements of Jacob’s limbs and my severe polyhydramnios indicated he may have Down syndrome. I refused this as it could have had risky side effects so we continued with the pregnancy. I was signed off work from week 29 and told to rest as I was high risk to go into labour early and Jacob’s cord could have prolapsed.

I was induced at 40+5 even after all the fears of an early labour. Jacob was perfect. He sat on the 50th percentile for weight (7lb 8oz), length (50cm), and head circumference. The doctors checked him over and confirmed he did not have Down syndrome. We were allowed home the next day to start our life as a family. He latched on and seemed to feed well initially. However Jacob didn’t seem hungry. He never cried for food and never found ‘his lungs’ like new born babies do. I decided with the support of the health visiting team to feed Jacob a combination of breast milk and formula to try and top him up. After around 3 weeks Jacob went completely on to formula. This didn’t make a difference and Jacob’s weight fell percentile lines very quickly. When Jacob was 3 months old we saw a paediatrician. They recommend dream feeds (Jacob slept through from 8 weeks old) and changing his formula. We had some blood tests and were knocked back and forth between local paediatricians. Some mentioned possible dwarfism and some had no answers at all. Jacob was tested for various allergies, basic genetics, organ function and cystic fibrosis just before his 1st birthday. When this came back negative I was at my wits end. Jacob was still tiny and didn’t seem to grow at all. He was now completely off the growth charts for length and weight. I knew in my heart something was not right with my son. I spoke firmly to a few people and we were eventually referred to the Endocrinologist team at another hospital a little further from us. We saw the lovely Endo doctor there who took some bloods and listened to me about everything. She thoroughly checked Jacob over and seemed to finally take on board the concerns we had. She decided a referral to Great Ormand Street Hospital needed to happen sooner rather than later.

Around 6 months later, lots of phone calls in between, Jacob had his STIM test. He was 19 months old and handled it so well. He was around 70cm at this point. I was convinced this would give us the answer, Jacob would be GHD and the worst that could happen is we would need to inject him with hormone every day. We were admitted and the nurse took a blood sugar reading. Well before we even started Jacob’s bloods were dangerously low. The nurse asked if we had noticed any issues with blood sugars and we both discussed times Jacob ‘zones out’ at home. She said this could be a hypoglycaemic attack. Anyway the STIM was done and despite a few more low readings of blood sugars we went home.

Well Jacob passed this test with a peak of 11! When the Endo Dr called, after I had been on the phone every day hassling her for results, she said she was surprised too. But she then went on to say that this indicated Jacob’s body couldn’t use the growth hormone it produced and it maybe more complicated than we first thought.

A few months later we finally saw the Professor at Great Ormand Street who was absolutely amazing. He too confirmed that Jacob’s body appeared to be rejecting the growth hormone. This is where we discussed the possibility of Insulin like Growth Factor Deficiency. I had come across this on my many google searches as to why my son wouldn’t grow. This is the hormone produced by the liver in response to the growth hormone it receives. Jacob’s was undetectable. Nothing. Our first step was the IGF1 Generation Test which involved giving Jacob varying doses of growth hormone to kick start his liver into producing IGF1. Its done in 3 stages and usually the 3rd stage isn’t needed as by this point the liver has responded. Jacob needed all 3 stages and still by this point his IGF1 was undetectable. It hadn’t worked. We were devastated as I had again convinced myself we finally had the answer. By this time Jacob was almost 2.5 years old and had been at Great Ormand Street every fortnight for blood tests since his second birthday.

Jacob also had a full skeletal survey which wasn’t easy as we needed 12 photos of his body and we literally had to pin him down. This confirmed Jacob had delayed bone age but no sign of dysplasia.

At our next appointment the professor confirmed Jacob had Severe Primary Insulin like Growth Factor Deficiency. This was very rare and he would need to start increlex treatment. He met all the criteria needed for NHS England to fund it. Increlex replaces the IGF1 that Jacob’s body doesn’t produce. Again we went home and I googled. Wow, the side effects were terrifying and I had no idea what this meant for Jacob’s future. He was only 78cm by this point which meant since birth he hadn’t even grown the length of a ruler. Jacob was also under the feeding clinic as he hadn’t developed the muscles in his face to help him chew his food.

We were admitted into Great Ormand Street in July 2018 to start increlex treatment. We were having a 4 night stay to ensure Jacob was closely monitored. The first day was full of tests. They give the child a full MOT before increlex can start and this is done yearly to ensure side effects can be closely monitored. His organs were scanned, eyes tests, hearing tested, throat looked at and weight and height taken. We felt like we saw every department in the hospital. Our amazing nurse came to see us to confirm Jacob is child number 15 in the UK with this diagnosis. We couldn’t quite believe how rare he is, I still can’t get my head around that! We are now also on the 100,000 genomes project with hopes of figuring out what has caused the condition for Jacob. So far we have no idea why or how. It makes it very difficult to accept for us as a family.

 Since treatment started Jacob has responded well. We still have issues with blood sugars which we handle well at home. He lacks energy and is often very tired especially after a day at nursery. Jacob is on the waiting list for an autism diagnosis but again, we don’t know if this is linked to his PIGFD or just how Jacob was always going to be. He has an injection in the morning within a 20 minute window of food and if his blood sugars are high enough. It’s the same in the evening and if he appears symptomatic during the day, his blood sugars are checked regularly. Jacob had his dose increased from 0.04 to 0.06 in January but since then we have noticed his difficulties with breathing, especially in his sleep and he has started vomiting if he cries or laughs too hard as he can’t catch his breath. We went to GOSH for an urgent sleep study which had shown Jaco’s tonsils are growing very quickly and will probably need removing along with his adenoids.

Our days are revolved around injections, food, blood sugars and intermittent vomiting. But, Jacob continues to be amazing. He now shows me where he wants the injection done and helps to take his blood sugar readings. He still hasn’t been able to tell us when he is having a hypo but we usually spot it quite quickly.

He showed good signs of growth in the first 4 months and we are yet to have him officially measured again until June. We hope for the same growth.

No one can tell us what is expected as it’s so rare, Jacob is part of a trial and will help to shape the future of SPIGFD.

Rhys

Rhys

by | Sep 18, 2019

Rhys

;

Rhys’s Timetable

My son, Rhys, is 5 years old with Sotos Syndrome. Anxiety and repetitive questioning is a big part of him and our lives right now which is very draining. It is something I really wish I could help him with as it impacts every part of his life, but nothing I say or do seems to help. He has just started a SEN school who are really understanding and say that his timetable helps at school to a certain extent, so we now also use one at home.

I have tried to write a poem from Rhys’ perspective to try and illustrate what life is like for him every day (although he actually says ‘What on my timetable’ but I didn’t think that flowed as well). I hope I have done a good enough job and that many of you will relate:

What does my timetable say?
I get up very early and I worry what’s going on today,
I can’t see why every day just isn’t the same
Will it be school? or will daddy be home?
What does my timetable say?

It’s school today, but I didn’t want that
I’m worried about leaving my mum so I’m going to scream, shout and lash out
I can’t get dressed, it makes me panic
What does my timetable say?

Who will be at school I wonder; which classroom am I in today?
Is it going to rain or shine
What does my timetable say?

What’s that noise? What’s that flashing? Now I’m really on edge.
I can’t focus or understand anything you say.
I still can’t get dressed for school right now
What does my timetable say?

You’re asking me questions but I don’t understand
I’ll ignore you and hope that it stops
Please leave everything where it belongs
What does my timetable say?

It’s the weekend now and daddy is home. Phew no school today
But wait, what will we do then, where will I eat and play?
I don’t want to go out, I don’t want to stay in
What does my timetable say?

What does my timetable say?
It doesn’t matter anyway!
What does my timetable say?