by Neil Hunter | Jun 27, 2022
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.
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.
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.
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.
by Neil Hunter | Sep 18, 2019
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.
by Jenny Child | Feb 7, 2018
Ell was born by Caesarean section at 39 weeks . Ell weighed a normal healthy 3.500kg.
At 2 weeks old Ell was admitted to hospital. She had scalded skin syndrome. Ell was pumped with antibiotics and stayed in hospital for 5 days. She made a full recovery.
At 6 weeks old Ell was weighed by the health visitor, she only weighed 3.540kg. Ell had drop from the 50th centile to the 2nd centile. Ell was referred to a paediatrician at 14 weeks old. Ell now weighed 3.950kg and was not on the chart (She has never got back on the chart!!)
Ell was then admitted to hospital Full bloods and urine sample. (Looking back, it was very funny trying to get a 14 weeks old to wee in a pot. But she did first time, ever the pro.) Mid December her bloods test came back with low B12 and MMA (Methyl malonic Acid) in her urine. At 17 weeks old Ell started weekly B12 injections.
Great we have found the problem; she will now grow and put on weight!
6 weeks had gone by. Ell was now 6 months old and weighed 4.575kg. Different milk was the answer (I was still expressing milk, a 1litre a day. The freezer was full of my milk!) The new milk made her very ill. It did not stay in her that long! Luckily I did not stop expressing, so Ell went back on my milk.
March 2012, Ell only weighed 4.750kg. Her B12 levels were back to normal. No more weekly injection. Why had the B12 not worked? What is wrong with Ell? Countless Bloods was taken, ECG, MRI and a sweat test (Ironically, Ell couldn’t make enough sweat in the test. But at home, she was sweating all the time, dripping!) All came back clear.
10 months old and weighing in at 5.240kg. She was referred to the Genetics. For the first time Russell Silver Syndrome was mentioned, along with Growth Hormone deficiency.
Ells first Growth Stimulation test didn’t go to plan. Her blood sugars crashed and because of her age and size the test was stopped.
In the first year of Ell’s life she had managed to put on 2kg. Holiday time, Ell celebrates her first birthday in the south of France. For the first time in a year we as a family could just stop and have family time. The last year had hit my eldest son very hard. In the past year Ell had been admitted to hospital 9 times. We have now found ways to keep ourselves entertained. Cardboard sick bowls make very cool hats. Rubbers gloves are fabulous balloons.
September, a new school year. Will we finally get some answers?
Ells referral to genetic came through an 8 week wait! We also got Ells Growth Hormone Stimulation test results back. It flagged up border line Growth Hormone (GH) undetectable Insulin Like Growth Factor. (IGF1) Okay we are now getting some answers, or at least some clues to the puzzle. A referral to an Endocrinologist was made; it was a 3 month wait.
October, I found the Child Growth Foundation. I started to read up on GHD, IGF1 and Russell Silver Syndrome. Jointing the CGF Facebook page was my life line. I was not alone. More importantly Ell was not the only one!!!
Before I know it, Ells Genetic appointment was here. I was a bit clued up, as Ells Genetic nurse had phoned some time ago. At this point Ell was 15 months old weight 5.9kg. Walking into the appointment I had so many questions. Would I get all the answers? Would they just look at Summer and say yes Russell Silver. At the appointment Russell Silver was not ruled out. She fitted the syndrome. But her birth weight was normal (3.5kg) Photos of Ell were taken. A bone age X-ray was booked. As Ell already had Blood stored, the decision was made to test for Russell Silver Syndrome. We left with more question and less answers (That is always the way with Ell.)
While waiting for the RSS test results to come back, we had Ells first Endocrine appointment. 10th January Ells first endocrine appointment (Weight 6.6kg, but she was fully clothed.) They took a history of Ell. Talked about the results of the first Growth Stimulation test. Discussed the pros and cons of repeating the growth stimulation test. We would wait for the genetic results and wait till Ell was over 2 years.
Early February Ells results for the RSS test came back. Negative. We were then offered to carry out an array-CGH.
Array- CGH is an ultra-high resolution way of objectively and quantitatively detecting whether a patients DNA has losses (deletions) or gains (duplications) which are pathogenic and therefore explain their clinical problems.
It was now a waiting game. By September Ell was 2 years 1 month 72cm and 6.9Kg. 23rd September Ell was booked in for her Growth Stimulation test. (Round Two.) Ell was admitted over night to monitor her fasting blood sugars. The next day. (D Day) The test started at 10am. (Running late.) Ell had been fasting for 10hours; the test ran till 5pm. Ells blood sugars crashed to 2.1. She was given glucose, they rocketed to 17.5. She was stabilised and discharged that evening. Ell bounced back after a couple of days.
Early October and Ells array-CGH results was back. Nothing was found, So Ell was invited on the DDD Study.
The DDD study is for families who have a child with a developmental disorder whose cause is not known. Families taking part in the study have the opportunity to access the latest technologies to try and reach a diagnosis for their child.
We read through all the information on the study. We understood that getting answers for Ell would not be easy. We decided to go ahead and place Ell on the DDD study, we had nothing to lose.
Ells Results for her Growth Stimulation test came back. Normal GH, but her IGF1 was low less than 25. We had to wait till January for her next Endocrine appointment.
New Year, new beginnings, and answers?
The DDD pack came in the post. They collected DNA from your saliva. Mummy and Daddy had a spit off. Daddy won. Ell was not so easy. She had a lolly pop stick, with a sponge on it. She had to suck on the sponge. “No Mummy, NO, NO.” Light bulb moment. Ell had a Gruffalo onesie. We put the onesie on her, and she Gruffalo spat her way to getting a salvia sample. It was very funny. Off in the post they went. (We are still waiting on results.)
At Ells next endocrine appointment, (Ell was 2years 5 months 73cm 7.1kg) we talked about her low IGF1 and discussed a potential trail of GH for a year. We wanted to take some time to think about it. In this time I did lots a research into IGF1, to try and get a better understanding.
Four months on, Ell was now 2 years 9 months 74cm and 7.5kg. Ells growth velocity was 2.5cm a year. She was falling further away from the chart. 9cm of the bottom line. We decided to proceed with a trail of GH hoping it will increase her IGF1 levels and stimulate growth.
From the endocrine appointment in May to Ell starting GH, was exactly one month. Friday 13th was the day Ell started her GH ( Lucky or unlucky, you can decided.) A lovely Endocrine nurse came to our house. Pinchie pen training 1 on 1. Lucky to say we passed; and Daddy gave Ell her first pinchie pen. (Fingers were all crossed for it to work.) We had planned a weekend away months ago. So we decided Carpe diem. With one day of GH injections under our belts, we set of on our weekend break. ( Ice pack, check. Pinchies, check. Pen, check . Sharp box, check. ) It was the best idea we had. From that weekend, Ell understood pinchie pen was going to be all the time.
Weeks passed Ell learned that pinchie pen had GH in it, and that help her to grow. Ell learned to load up the pen, dial her dose. (0.4) counting 4 clicks as she turns the dial.
Now that Ell was on GH we felt ready to go to the CGF convention. It would be great for the boys to understand there are children like Ell. I guess we didn’t want to go before, as Ell was (Still is.) undiagnosed. Sounds silly I know.
The CFG convention was the best time, in a long time. I was still worried we would not fit in because Ell was undiagnosed. I now know I was being silly. We made some great friends. Found out lots of information.
Just before the CFG conference we had an appointment with Ells endocrinologist. Ell was getting very tired. (She slept through most of the talks at the convention.) Sleeping 2 hours in the day and 14 hours at night. Turns out Ell had low iron. Iron syrup sorted out the problem. This was also the week Ell started preschool. It’s not been easy for Ell. She hated going, but she got a lot better. (Less tears.)
We saw the Endocrinologist again in November, for the big weigh in. Has GH worked? Ell at 3 years 3 months was 78.9cm and 8kg!!!! That was 4.9cm and 500g in 6 months, fabulous. (It also had made her hair grow.) Happy dance all the way to the Coffee shop, Ell loves cake!!!
Early 2015, Ell was having dizzy spells. More bloods were taken. Ell ever the pro at this. Just puts out her hand all ready. (We only now have Ells paediatrician do her bloods. She has been messed about with so much, in her 6 years of life.) Low thyroxine (T4) levels came back. Her bloods were redone to make sure. She also had a 24hour ECG. Just to see what her heart was doing, when she had a dizzy spell. ECG was all clear. The second bloods came back again with low thyroxine levels. Ell has been on Levothyroxine for 3 years. It has helped so much.
Ell started School September 2015. We had all the meeting with the school SENCO coordinator. It’s was just a case of school uniform to make, buy and shrink!
Ell starts school at 87cm and 9.8kg. (Things were looking up!)
Ell started school part time, but Christmas she was managing full days. She is one very popular little girl. Especially in her custom design uniform.
One thing can honestly said about Ell, she never lets anything get in her way. Proud Mummy moment Ell is learning to Horse ride. It does not matter what size you are, nothing can stop you. 
