by Catriona Taylor | May 11, 2023
Guinness World Record holder Rumeysa talks with the Child Growth Foundation about her work to raise awareness of overgrowth condition Weaver Syndrome
How many Guinness World Records do you currently hold, and what are they?
Currently I hold 4 Guinness World Records titles: the tallest living woman, the largest hands (female), the longest fingers (female) and the longest back (female). I’m also the former holder of the tallest living female teenager title.
Do you remember how old you were when you first understood you had Weaver Syndrome, and how you felt at the time?
I was around 5 or 6 I think. I have never felt bad or upset about it because my parents taught me that Weaver Syndrome (WS) is what makes me unique. I was amazed when I found out that I am the 27th person diagnosed in the entire world, and even I myself started researching to learn more at such a young age.
Given that Weaver Syndrome is so rare, do you feel an obligation to be a spokesperson for the condition? If so, do you see that as a burden or a benefit?
I didn’t feel that I’m obligated to, but I really wanted to do this. I always knew WS is quite rare and there are just a few people with it in the world. So I wanted to inform others and spread awareness. I’ve been voluntarily advocating for WS since I received my first ever Guinness World Records title 9 years ago and this gives me honour!
What sort of physical support and equipment do you rely on in everyday life?
I get around in a wheelchair most of the time and can walk with a walker for short distances.
You must get asked the same questions over and over again – what question are you most sick of answering?
As you know, one of the most common features of WS is a deep voice. Obviously I have that, too! However, many people can’t figure out the reason and often ask me ‘What’s wrong?’ with my voice!
In what ways did having Weaver Syndrome affect your teenage years?
In order to stop my overgrowth, I received a medical treatment from age 6 to age 9. The purpose of this treatment was to start my puberty via giving a high dose of oestrogen into my body and then end it after enough time. So I was going to be able to reach my adult height as soon as possible and it would be the minimum. So, even though it sounds a little crazy, my puberty process started when I was 6 and ended when I was 9.
So as a result of this, in my teenage years, I already had an adult woman’s body. I know this could be traumatic for a child at that age but my parents, who also have a medical background, did a great job of explaining the whole treatment and situation to me. So I never remember that I felt scared with what was happening.
What sort of impact has it had on your professional life?
I’m a web developer. I chose this profession not only because I have always been interested in computers and technology, but also as I thought that having a career in tech/programming would be the most suitable one for me since I have physical disability due to WS. I really wanted to follow a career path that I will be able to perform as a job and these type of fields have a lot of remote work opportunities, so I thought it would be a huge advantage.
Your long-haul flight to the US in 2022 required adjustments on the part of the airline to enable you to travel comfortably. Can you describe the experience of researching travel options and explaining your needs to the airline? Were they understanding?
I was born with scoliosis which is another feature of WS. Even though I was operated for that when I was 17 years old, I still have some curvature and carry 2 rods and 30 screws in my spine. That’s way I can’t sit longer than 2-3 hours at once and then I need to lie down and take a rest. So my only option to be able to travel from Turkey to California was flying on a stretcher.
Traveling on a stretcher is not a process that can be easily arranged. Usually it is used for passengers in a medical emergency situation. As far as I know this was the first time ever that this option was used for a tourist passenger.
So the entire process required a lot of research and preparations. I contacted Turkish Airlines, as it is one of the very few airlines that provide a stretcher option. In order to make this journey happen, they had to close six seats in the economy class of the plane and place a stretcher on them.
At some point in our discussion, this turned into a PR trip with Turkish Airlines. Everyone working there was super kind and helpful, and put my safety and comfort first.
How are you enjoying life in California? And what is your everyday working life like?
I’m definitely living my best life here. California, especially compared to where I live in Turkey, is way more accessible which is a huge benefit for me. I have been exploring Bay Area for the last 6 months, and recently spent a week in Los Angeles which was an experience I enjoyed a lot!
You have obviously faced a lot of obstacles and adversity in your life, how do you manage to stay positive?
I always had dreams and goals, and I knew that I can achieve them with hard work and dedication. Thanks to my family’s endless support, I have never let negative thoughts hold me back. Plus, being a 5 times Guinness World Records holder and a public figure are what keeps me motivated and going.
What advice would you give a young person coming to terms with living with Weaver Syndrome, or another overgrowth condition, such as Sotos Syndrome?
Your syndrome doesn’t define who you are as well as your talents. Always be aware of your potential, set goals for your future and do your best to achieve them.
What ambitions do you have for the future?
I have so many things planned to achieve in the future. In general I can say that I’m building a future for myself where I can live my life as independently as possible in the place I dream to live.
Is there anything else you’d like to share with members of the CGF?
Thank you for having me. It’s a privilege to share my story with you. I hope my story could inspire you and your children in one way or another. Keep fighting, being rare is precious!
Huge thanks to Rumeysa for taking part in our Q&A, and for helping to raise awareness of Weaver Syndrome.
To find out more about Weaver Syndrome and to access our support and information here on our website or contact our support line on 020 8995 0257 or at support@childgrowthfoundation.org.
You can follow Rumeysa on her Instagram @rumeysagelgi.
by Catriona Taylor | Jan 5, 2023
By Freya’s mum Krista, November 2022
Recently my husband and I had the opportunity to attend the Child Growth Foundation Convention with our 17 month old daughter Freya.
We were taking her to meet her UK family after being cooped up in Australia during our Covid lockdown.
It was absolutely amazing to meet families who have shared similar experiences to ours, and we made a bunch of new friends. My husband did find it quite confronting though, when he realised just what Freya’s future might look like; he hadn’t done as much research on RSS as I had, and hadn’t realised quite how life-changing a diagnosis it can be.
My pregnancy was going well until week 28. During a routine growth scan the doctor became very alarmed when Freya suddenly dropped from the 10th percentile to the 3rd! We had a lots of scans in the hospital that day and shared a look of horror when the consultant “reassured us” that we wouldn’t need to have the baby taken out that day…
We made it to 37 weeks before Freya was born via caesarean section at 2.2kg (4.8 lbs). Right from the start she had problems feeding, she had EBM with top up formula and was just not gaining weight.
However, after a week all alone in hospital with her during Perth’s only Covid lockdown I’d had enough and begged to be allowed home. She gained 30 grams the first day out, probably just being away from the stress 😃
She continued to have very slow growth and was extremely unsettled – after 4 months she was switched to different formula as she was CMPI. Then she started actually sleeping a bit. Hallelujah!
We visited the Child Health Nurse and Emergency room so many times when she stopped feeding and got sick, and spent a fortune on hospital parking during her inpatient stays… it was a very stressful first year!
Eventually we were seen by a lovely paediatrician at Perth Children’s Hospital, who asked if anyone had mentioned Russell Silver Syndrome to us.
When I Googled the list of symptoms we actually shed tears in the hotel cafeteria as we realised Freya had almost every single symptom!
Discovering that there was a reason she was failing to thrive, why she looked so different to other babies and why she was so late to crawl and walk was such a relief.
Although it was tinged with fears for her future, which is why it was so important to meet other RSS families at the Foundation.
Now Freya is 19 months and finally has her first few teeth. She’s almost running on her tiny feet! She is wearing age 9 months clothing and constantly surprising people with her cheeky attitude. We are still waiting to see if we get genetic confirmation of RSS and another condition called ectodermal dysplasia, but we know that while she may be small she is certainly a huge character who is going to leave her own mark on the world, no matter her size and appearance.
Our visit to the CGF Conference really opened our eyes to the world of kids living with these growth conditions. We came armed with a huge list of questions, and got answers to everything. Growth hormones, genetic test, feeding, injections – there was someone there to talk to about every aspect of Freya’s situation! We came away much better informed… and with yet another list of questions, this time for our doctors in Perth!
Thanks to the Conference we learned about a whole range of possibilities for Freya. Whilst her development may be slow and slight, her future will full of love and support – and the best options our health service can provide.
by Neil Hunter | Jun 27, 2022
For a recent IUGR Awareness Day (Intrauterine Growth Restriction) we are fortunate to have a guest post from Susanne Remic, GhostWriterMummy. For anyone who has read her blog, you will know that by talking about her pregnancy experiences and campaigning for better support, she helps countless others going through similar experiences. In recognition of this, she was a finalist at this year’s Tommy’s Awards for Mum’s Voice Award. This is her IUGR experience.
At 29 weeks gestation, we were told that our 4th baby wasn’t growing as well as had hoped. We’d had a growth scan due to previously having had two SGA babies, and the hospital had wanted to keep an eye on us as a result. We honestly thought that this growth scan would show a happy, healthy baby too, just like the others.
I remember that the air inside the doctors office felt so still as we waited for her to come through following the scan. I was perched on the end of a bed, feet dangling over the side. My husband was standing awkwardly, commenting on the lack of seats for dads. A normal day. Feeling normal. Smiling. And when the doctor swept into the room, we had no idea what was to come. There was no way we could have anticipated what she was going to tell us.
We’ll try and get you to 34 weeks.
We’ll deliver via c-section and baby will go to special care.
You’ll need to come back every two weeks to monitor growth.
I felt the room slide. The air was rushing from the room and the words weren’t making sense. But I was supposed to be having a VBAC! I wanted to go the whole hog- 42 weeks was the norm for me. Not 34! This baby was supposed to be small, but perfectly healthy. None of this was supposed to happen this way!
When we left the hospital, I started to google low birth weight babies and four little letters kept popping up over and over again. IUGR. Horror stories of tiny babies, too small to fight to be alive. Too weak. Born too early. I searched for blogs to read so that I could get a better understanding of what we were facing. I joined IUGR support groups on Facebook. I craved information but there was really very little that anyone could tell me.
At our next scan we were told that reduced blood flow was depriving baby of essential nutrients and oxygen, and this was probably the reason why she wasn’t growing. We were told to come back weekly so that they could monitor us closely.
Medically speaking, the care we were given was second to none. Emotionally, I am still paying the price today, 18 months on.
Google was not a good place to be. As my hand rested on my tummy and I willed my baby to move, Google was most definitely the very worst place to be. I read story after story of babies born too early and too small. Babies facing a lifetime of disabilities. Babies who never made it home. And as each growth scan showed us a baby that still was not growing well, the fear and anxiety we felt began to escalate. Nobody could give us any answers and while we understood the reasons why, we were still frustrated and scared.
If our baby was going to need special care, how would we know where that ward was in the hospital? What would happen in there? Would I be able to stay? Would we be transferred to a different hospital closer to home? Would there be any lifelong disabilities for our baby? Why was she IUGR? Was it something I had done wrong? The medication I took to stop the sickness? Did I eat the wrong thing? Too much? Not enough? Should I rest more? Or move more? Should I prepare for the worst? Was my baby even going to make it? Was there a genetic reason for her IUGR? Would there be something one, maybe even two years down the line?
And while our questions couldn’t be answered, we had nobody to even ask them to. Nobody to hold our hand. Nobody to tell us we’d be ok. Nobody to listen.
The IUGR support group on Facebook literally saved my sanity. Writing about my pregnancy helped so much too. Not only was it an emotional release for me, but it encouraged other women to get in touch and tell me their stories too. Some babies made it, and some didn’t.
I had to focus on MY baby. Getting through to 34 weeks, and then to 37. That first cry in the operating theatre as she was plucked from my body. That first feed. That first smile. First laugh. First steps. First word.
She is here. We are here. And we are slowly finding support too.
There is now a UK Facebook group for parents of IUGR babies and I hope that the members find it of comfort during what can be a terribly lonely and confusing time. There is also the Child Growth Foundation, a charity who reached out to me recently to provide support and advice. The support is out there if you know where to look. I hope to be able to signpost that information and support so that other families that walk this path do so with a light to guide the way. IUGR can be a terribly lonely and frustratingly scary path; I don’t want other families to walk it alone like we had to.
by Neil Hunter | Jun 27, 2022
“Little did they think that at 18 months, their daughter would be diagnosed with the onset of puberty.”
When Holly’s daughter entered early childhood, she noticed puppy fat around her daughter’s breast area. After much discussion, Holly and her partner decided to check it out. Little did they think that at 18 months, their daughter would be diagnosed with the onset of puberty. But this would not be the only diagnosis their family would receive.
Four months into our relationship me and my now husband found out we were expecting another bundle of joy. Already parents to two girls each from previous relationships, at our 20-week scan we knew that our little baby was going to be another girl. This was confirmed by the sonographer and we were elated. Due to already having four girls we knew exactly what treats were in store for us and what to expect. Well, this is what we thought…………
Our daughter was born in March 2011 and we were simply over the moon. Weighing a healthy 8lb 10oz she was a normal chubby, bouncing baby girl and nothing seemed out of the ordinary. As she grew and started to become more active, her body frame started to slim down leaving her chubbiness behind. This is when we noticed what we thought was puppy fat around her breast area. Chatting to my husband and family members with daughters, it became apparent that maybe it was worth getting her checked out by a doctor.
Initially the doctor was not concerned but, as precaution, sent us along to the endocrine consultant at our local children’s hospital. We were not told anything by the GP just that he thought it was a condition called ‘Thelarche’ which is the onset of female breast development. We didn’t really think anything of it and thought maybe it was extra oestrogen that was exchanged at the time of our daughter’s birth.
When we were greeted by the consultant she weighed our daughter and also took her height. She agreed that our daughter was over the percentage she should be when it came to both of these measurements and quickly discussed a condition called Central Precocious Puberty. It wasn’t a long discussion more a passing comment and booked our daughter in for the following week to have blood tests to check her LH and RH levels to determine if she had the onset of early puberty.
This was such a distressing thing for her to go through at the young age of 18 months; however, we are so glad that we went with our gut instinct to get her checked as 5 weeks later she was diagnosed with the onset of puberty.
“This time for us all, as a family, was heart wrenching waiting to hear the results felt like weeks not days.”
e were so devastated and of course started googling the condition and reading horror stories of how tumours pressing against the pituitary gland could be the cause. After the diagnosis, our daughter started hormone injections every 28 days and was sent for an MRI scan and a scan on her uterus.
This time for us all, as a family, was heart wrenching waiting to hear the results felt like weeks not days. The results came back and nothing showed up on the MRI; however, her uterus was the size of an eight-year- old girl. More bone scans were done on her wrist to check her bone development and yet again proved to be older than her years.
Our daughter is now 5 years old and is doing great, still visiting our local hospital for hormone injections every 28 days and has built up a great relationship with the endocrine nurses, she has almost become desensitised to the injections now and takes it in her stride. I tell her she has them because she is special and to keep her little. She does, however, still continue to have mood swings like a pre-menstrual teenager. She can lash out and has real trouble sleeping at night, which appears to be a side effect from her hormone medication.
She needs personal hygiene care during the night and can show some teenage girl traits; greasy hair, outbreaks of spots and body odour. Pubic hair has also become prevalent as time has gone on.
This condition has been hard to get a grasp of. There isn’t a lot of information online and all appear to be from American sources where they use different medications to medicate with.
Our daughter will stop treatment at the age of ten and hopefully go on to have a normal menstrual cycle, although I do worry what the future will hold.
“After a GP referral, consultant appointment and blood testing our worst fears were confirmed; my daughter had started puberty at 7 and a half years old!”
This condition has been a big part of our lives and although manageable hit us with another bombshell in winter 2013. At the age of 7 and a half years, my biological daughter from my previous relationship came home from school telling me that she had found blood in her knickers. On closer inspection it appeared to be period blood. I was completely beside myself thinking, ‘not again, what have my family done to deserve this?’ Trying to hold back my tears and console my daughter at the same time was just unbearable.
I called the endocrine team who informed me that I would have to go through the GP for a referral. I am not going to lie, I was upset at this and wondered, that with another child with a rare condition and the same symptoms, why could they not just see us straight away?
After a GP referral, consultant appointment and blood testing our worst fears were confirmed; my daughter had started puberty at 7 and a half years old! After numerous discussions the consultant gave us a choice whether to let my daughter continue to menstruate or to medicate her with hormone injections. Apparently it’s considered normal for a child of eight years old to start menstruating.
We went home that day trying to fathom how to discuss this with my daughter. She hates needles and really was against the idea of monthly injections, however, as parents we felt like she wasn’t mature enough to have a period and have to deal with that every month (it’s bad enough for us as women). We all agreed that the best thing to do was to start treatment asap and her biological father agreed with this, too.
Obviously, being that much older than my younger daughter, I had to sit down and explain why periods happen. Something that I didn’t want to do at such a young age, however, it was appropriate for us as a family. Even my six-and- a-half- year-old daughter was intrigued.
My eldest daughter continued with the injections for two years but, unfortunately in November 2015, started bleeding again, breaking through the injection. It was decided that in my daughter’s best interest, she would come off the injections as she really did struggle with them, although they were moved to one every 11 weeks they just were not having the desired effect. This was due to her weight and height. She hasn’t had a period now since January 2016 but, her mood swings are all over the place. She looks a lot older than her years and her body shape is like a curvy woman’s.
Although this condition has been a big part of our life we cannot thank our lucky stars that we pop into the hospital once a month and get to bring our daughter home after her treatment, something that other parents aren’t so lucky with.
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.
