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.
As far as I am aware, the first time the condition showed was in my father, Ramsay. He was born in Birmingham in 1924, the younger of two brothers. His parents and brother (my grandparents and uncle) were of normal size, whereas my father grew to around 4’ 10”. I am not aware that he had any growth treatment as a child or even if anything was available, and unfortunately he is no longer around to ask. The family always said that he had a very bad bout of measles as a child and they thought that this may have been the reason for his growth problems. But as we now know, it is due to a genetic abnormality, or more specifically a gene deletion, which led to the pituitary gland producing insufficient growth hormone. Growing up in the inter-war years would have been difficult for him as ‘he was the first’ with a growth problem, so to speak, so he or his parents would not have known what height he would reach. Also his brother, who was four years older, set various school athletics records at the local grammar school, something that my father could never hope to match when he subsequently went to the same school.
I know his parents took him to the hospital, but at that time the medical advances had not been made so there was nothing that could have been done for him.
A blessing in disguise, if you could call it that, was that he was considered too small to join the army during WWII, although knowing him as I did, I would think that was a cause of severe embarrassment for him as he wanted to serve his country when he was old enough, as his brother was doing.
I don’t believe that he had many girlfriends, but threw himself into music and became a proficient cornet player with the Boys Brigade, which in later years led to the clarinet and saxophone. I’m sure I recall my mother saying once that he hoped to attract a girl through his musical ability, although I think his sense of humour helped as well as him being well read. Incidentally my mother is 5’ 4”.
Pan forward a few years to when I arrived on the scene in 1957. I am the eldest of 3, having 2 sisters born 1959 and 1963. I was told that I was a good weight when I was born and that I grew normally for the first 12 months, but that things started to go wrong soon after that.
That started trips to Birmingham Children’s Hospital; every three months for the next 20 years. It is only now, when writing this, that I realise how much my parents did for me to get me extra height and, from that, what it must have been like for my father as a child, given the determination that I would not have to go through what he did.
By the time I was four my elder sister at two was taller than me. She ended up at 5’ 8” and thin, my younger sister 5’ 7” and thin, me nearly 5’2” and not thin… there’s no justice!
Anyway, back to the story…
Before I started school, I did not know that there was anything wrong, as in those days there were no nurseries to go to for me to compare. I only had three cousins, two of whom were younger, so again no clue of anything wrong.
To be honest I can’t really remember much about my early school days. My mother tells me that with me being small and blonde, all the older girls used to come and pick me up because I was like a doll. Apparently I used to hate it and squirm around to be put down. With the benefit of hindsight, “Girls I forgive you, and I promise I won’t squirm now!”
Other early memories include:
- Being useless at anything to do with sport, something that has plagued me throughout my life.
- Regular trips to hospital where I was poked & prodded, X-rayed, weighed & measured.
- Taking tablets to help me grow (I found out much later that it was an anabolic steroid which was subsequently banned).
- Never being able to get clothes to fit properly, particularly trousers, where my mother always had to turn them up (my wife performs that duty now).
- Seldom being able to reach anything without steps.
- My two younger sisters being a lot taller than me.
My secondary school was an all-boys school, and it was there that I really started to notice the difference in height, as the other lads began to shoot up and of course I didn’t. It was fine with most of the boys in my year but as I got older, the boys from the years below used to make my life a misery, at least when my friends weren’t around. A couple of things that I still remember vividly were:
- In Biology we were differentiating the class into various categories and I was the first one to be separated out as being below a certain height.
- A new teacher arrived one year and when he came into our classroom for the first time he singled me out as not standing up when he came into the room. Of course I was – which was the cause of much embarrassment on both sides.
Meanwhile, the Children’s Hospital was trying hard to get me a relatively new and rare treatment called Human Growth Hormone. They had run the various tests to see if it would benefit me, which it would, but their request had been turned down a couple of times. Meanwhile I was not getting any younger (I was nearly 14 now). In desperation the doctor in charge of my case gave me the name of a Harley Street doctor who was on the GMC and my parents paid for a private consultation with him.
To cut a long story short, I ended up getting the treatment on the NHS from the age of 14 until I was 21. It was not pleasant having the injections during my latter teenage years especially when I was out with my mates knowing that when I got home I had to have my injection, but I am pleased that I persisted. I would estimate that overall the treatment gave me around 5 inches in height which does not seem much but there is a big difference between 4’ 9” and the 5’ 2” that I am now. Certainly nobody was happier than my father when I eventually overtook him in height (although I never got to be as tall as my mother, and certainly nowhere near my sisters).
Leap forward a number of years, now married and thinking about starting a family. I had already become aware of the CGF due to the problems identified with growth hormone treatment prior to 1985* and was interested in developments within the growth hormone area for the future, in case we decided to have children.
When we decided that the time was right we went to see a genetic specialist to investigate the possibility of passing the condition on to a 3rd generation.
The specialist decided that there was a 50:50 chance, and that it could just as easily happen if the child was a girl, but that my sisters, having not been affected, would not pass the condition on should they have children. Because our case was so rare the specialist took great interest in the family and did blood tests on both my father and I, where it was identified that there was a genetic abnormality causing the pituitary gland to malfunction.
When my wife (Jackie) became pregnant the specialist contacted the hospital where Robert would be born and told them what to look for such as hypoglycaemia. Meanwhile we had attended the CGF national convention and struck up a conversation with a paediatrician sitting next to us at the evening meal who, by complete coincidence, happened to work at the hospital local to where we lived and would subsequently look after Robert.
When he was born it was obvious to the doctors straight away as he was shaking due to hypoglycaemia. He was taken to intensive care and put on a drip to stabilise him. We therefore knew from Day 1 that he had inherited GHD.
The Birmingham Children’s Hospital was brilliant and kept an eye on him. When he was one he had the GH tests, or rather didn’t as the doctor couldn’t get any blood out of him. Despite that the doctor said he had all the hallmarks of GHD and prescribed it anyway.
Robert is now 17 and is in the 6th form at school. He passed 10 GCSEs and achieved the English Baccalaureate. He has just sat AS levels in Maths, Physics, Geography, Business Studies and General Studies.
He is 5’ 7” around 9 ½ stone in weight and is still extremely fit. He no longer runs competitively because of injuries and also because training nights for athletics and rugby coincided. He had to make a choice, so he chose rugby. He played for the 1st XV at school whilst in the lower 6th and will be in the 1st team again for the coming season. He won the award for the most improved player last year, to go with the one from the previous season for the most improved 2nd XV player. In a school 7’s tournament he was the only player in his team to play in every game, because he was the only one fit enough to last out.
He was also drafted in to the senior house hockey team to make up the numbers, (he last played when he was at Junior School) which ended up with the school hockey master asking the rugby master whether he could play hockey for the school team next year…the request was met with a resounding NO!
Outside school he played for Moseley U17 Colts last season as well as Greater Birmingham and will be in the full Colts (U19) squad next season.
In addition to sport, through Scouting he has achieved his Gold & Platinum Chief Scout Awards and his Bronze and Silver Duke of Edinburgh Awards. He is currently in the Lake District for the week doing the Expedition challenge towards the D of E Gold Award which then counts toward his Queen’s Scout.
Other than that, he is learning to drive at the moment and has a girlfriend from the girl’s school next door to his so we will see how that transpires.
*Iatrogenic CJD resulted from the contamination of the very early growth hormone products used before 1985. This contamination of growth hormone is no longer possible due to the completely different method of production.