by Neil Hunter | Sep 18, 2019
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.
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.