Jasmine's Journey
This is the story of Jasmine’s journey – it’s a tough road for someone so young to have traveled. It is a story about our search for some answers to her very rare genetic condition. Jasmine recently turned two and we really celebrated this birthday, as for some time we thought it might be a day she would not live to see.
During my pregnancy I had numerous ultrasounds and we were watched carefully, as Jasmine did not seem to be growing as she should be. Jasmine was born at 4 pounds 12 ounces (2170 grams) and was diagnosed with IUGR (Inter Uterine Growth Retardation). Jasmine stayed in the hospital for three weeks and had some tests due to a large fontanel and projectile vomiting. These tests included chromosomal studies, and abdominal and fontanel ultrasounds. When we were allowed to take her home the doctors weren’t overly concerned so neither were we – we thought she just needed a bit of a growth spurt and everything would be “fine”.
Jasmine at four months
However, six months later Jasmine’s height was just 57 cm and she only weighed in at 4.3 kg. Although this was showing appropriate growth along her growth curve, it was so far below her chronological age for weight and height we thought it was time to start a search for some answers. Her doctor suspected “silent reflux”, as she was still vomiting a lot but without discomfort. She had a barium swallow done as well as blood tests for Growth Hormone Deficiency and chromosomal studies. These tests all came back normal. We then saw a dietitian who suggested thickening Jasmine’s formula and adding extra calories to her meals in an attempt to help control the vomiting and put on some weight. This proved unsuccessful. The vomiting continued and there was very little weight gain.
At nine months old, Jasmine weighed 5.32 kg and was 60 cm tall. Our next step was a referral to the Sydney Children’s Hospital Genetics Department. The waiting list was long, and Jasmine finally went to see them when she was eleven months old. It was there that we hoped we would find our answers. The geneticists were confident that Jasmine had a genetic condition. But which one? This is where more tests started. Jasmine had a skeletal x-ray and a bone age study done.
Over the next few months, Jasmine was clinically diagnosed with possible Russell-Silver Syndrome (RSS) and a DNA study was done to confirm this diagnosis. While we were waiting for confirmation, naturally we researched into RSS and realized that we needed to get Jasmine to an endocrinologist and a dietitian. With help from a family friend we did that. We were introduced to possible Growth Hormone Injections and G-Tube Feeding. We contacted organizations to try and get as much information as we could. We were told this condition was quite rare. After further investigations, doctors decided that RSS didn’t seem to fit all the pieces of the puzzle and Jasmine’s DNA studies came back as negative for Russell-Silver. Back to the drawing board.
Jasmine's naming Day October 2005
Jasmine’s case was starting to attract quite a lot of attention in medical circles. Her skeletal x-rays had been forwarded to paediatric radiologists at Westmead Children’s Hospital. After quite some time, a professor at Westmead suggested another diagnosis: 3M Syndrome. The genetics teams at both hospitals seemed confident that this was the answer. We were told that basically, there was nothing we could do medically to help her. There would be no developmental problems or health issues - Jasmine was always going to be smaller than average. We just had to help her adjust to life like this.
At sixteen months old, Jasmine weighed 6.26 kg and her length was 67 cm. She was developing well, attending daycare and ruling the household! After so many months of medical tests, life for Jasmine and our family seemed to be getting back to normal. Despite everything, our little girl still had a strong will and a BIG character!
In October, 2005 Jasmine’s journey took a new and unexpected direction…
We first noticed something was wrong when her stomach became distended and she began having trouble breathing. Jasmine had an abdominal x-ray, which showed she was constipated. We knew she wasn't herself, and treatment wasn’t working. Things just weren’t right. So on October 4, we took her to the Emergency Department at Sydney Children’s Hospital in Randwick. We said to ourselves, “We are not leaving here until we get some answers”. Although we were seriously worried, we had no idea that the answer was going to be so serious.
That same day, we were told Jasmine had a tumor in her right kidney, and further tests needed to be done to determine the seriousness and extent of the tumor. We were told to arrange care for our four year old son Jaidyn, as we wouldn’t be leaving hospital for some time.
The next day, Jasmine was scheduled for a CT scan, but just before she was to have her scan we received news from the genetics department. Ironically, the tumor had helped them to finally determine Jasmine’s genetic condition: Mulibrey Nanism. The CT scan then confirmed that Jasmine had a Stage 4 Wilms Tumour in her right kidney, traveling to her heart, with secondary tumors in her liver and lung. What a day: two diagnoses, neither of which we wanted to hear. This began another path for us to follow, not just with our daughter now having a life threatening illness, but also diagnosed with a different, and unbelievably rare genetic condition.
The following day, on October 6, Jasmine went straight into surgery and had a portacath put in her chest and had her first round of chemotherapy. We were amazed that within 48 hours her wonderful team of doctors had been able to diagnose Jasmine’s illness and begin treatment. The doctors urged us to focus on Jasmine’s battle ahead, and our confidence in the doctors helped us to do this.
We were then told Jasmine would most likely not be going home for quite a while as she needed to start aggressive chemotherapy; in addition, doctors had found a large mass of tumor near her heart. For safety reasons they decided it was best for her to be in hospital, in case the tumor in her IVC and the mass at her heart broke away and went to her lungs. “We will try and get her home for Christmas” was all we had to go on. We knew the doctors would do everything they could to make that happen.
With her first round of chemotherapy, Jasmine seemed to go well and had minimum side effects. But almost a week later, just a day before her second treatment, she was happily playing and ordering everyone around when she suddenly became quite upset and lethargic. When I placed her on the bed to change her nappy, we found her nappy full of blood. Jasmine was bleeding heavily from somewhere and we really had no idea why. Within fifteen minutes, Jasmine had been examined by her doctors and surgeons, had x-rays done, and had started a blood transfusion. We had thought a lot could happen in one day – now we new how much things could change in a quarter of an hour! As frightening as this experience was, it also reinforced our confidence in Jasmine’s incredible team of doctors and nurses.
They then gave us a probable cause of the bleeding: it seemed the chemotherapy had already started to work and was breaking up the blood vessels in her kidney, which was then bleeding through her urine. So the chemotherapy was working – we didn’t realize the results would be quite so immediate, or dramatic. Jasmine was now connected to a catheter and having blood transfusions. The bleeding took about a week to stop completely.
Jasmine and mum on Bandana Day
Jasmine continued with chemotherapy treatment weekly, and did quite well for someone her size. She had her good days and her bad days. Unfortunately by week three she needed to be tube fed, as her appetite had gone and her weight was going down. She adjusted to this well. Jasmine was very much running the ward by now and was loved by so many people. It was amazing that such a little girl could have such a huge impact on everyone around her – so many people told us that seeing her happy smiling face was what helped them through the ordeal of having their children in the oncology ward. The hospital had become her home and she loved having all these new faces around her.
By November, Jasmine’s surgeon decided she was ready for surgery: the mass near her heart had gone, and the tumors in both the kidney and IVC had reduced sufficiently for them to operate. The doctors told us of the dangers of such a difficult operation, and that Jasmine may need a heart by-pass. We were told to prepare for the worst. On November 24, 2005, we said goodbye to our little girl as she went into the operating theatre. Then, we just waited and prayed. I could honestly say, this was the hardest day I have ever experienced - even after everything else we had already been dealt with. After a seven-hour operation, Jasmine’s wonderful surgical team told us she was in the Intensive Care Unit. She had done amazingly well – no heart by-pass was need, and the tumors looked to be all gone!
Jasmine was put in a medically-induced coma for about two days. Those first few hours in the ICU were the hardest as this is when it all hit me. I realized just how sick she was. She looked tiny and frail and helpless, and unable to fight. Up until now, despite the severity of her condition, she had always managed to smile and play and almost seemed to carry on “as normal” – some days it was surprising to realize she was actually really sick! We’d been told that she would probably be in the ICU for a week or more – but not our Jasmine. By day three she was back up in the ward and trying so desperately to get up and go for a walk around.
One week after surgery Jasmine was well enough to start radiation. She had six sessions over two weeks, and through the break time we even got to take our little girl home for a weekend. It was the best feeling - we could actually see an end to our three-month hospital stay! Then we were given the best Christmas present we could ever ask for… Jasmine was discharged from hospital on December 15. Our lengthy stay in hospital had finished and we were home! Jaidyn had his mummy back full-time – not just one night a week - and most importantly, he had his little sister home again to play with and protect.
Jasmine playing at home
Jasmine was still being tube-fed at home and going back to hospital every few weeks for chemotherapy. It was a lot of hard work and lots of trips back and forth to hospital, but it was definitely worth it to have Jasmine back home. It was a busy time for us, as Jaidyn was starting “big school”, and we were so thankful to be able to be there for him. Little things started to take on a whole new significance for us, and we began to realize that every day comes only once.
We were very lucky - Jasmine only had to go back for a couple of hospital visits with temperatures and a port infection. April was a good month for Jasmine – she had her last chemotherapy treatment, her feeding tube came out, and she had a CT scan and was classed as “in remission”! Then, on May 14, we celebrated her 2nd birthday!! We had a huge party for her and invited a lot of close friends and family to celebrate. It was also a chance for us to thank some of the many people who had shown Jasmine their love and support over the past months. Most importantly, we could show off our little hero! She is now having regular scans and ultrasounds and we are still praying every day that she can stay in remission and keep fighting.
Jasmine off to a clinic visit
We began researching Mulibrey Nanism. Little did we realize how hard this was really going to be! Our doctor was not even sure what to tell us about this condition because so little is known about it. They could tell us however that it was a very rare condition with Jasmine looking to be the first known case in Australia.
Jasmine presented with the following features associated with Mulibrey Nanism: short stature, enlarged liver, relatively large hands and feet, Wilms Tumor, feeding difficulties, cranio-facial features. We were lucky that she has not yet presented with any possible heart problems such as pericardial constriction.
Unfortunately, out of the 113 cases, Wilms Tumor is a rare feature of Mulibrey - Jasmine is only about the third child to develop the tumor from this genetic condition. She also has cystic malformations on her lung which are being watched, but this actually has nothing to do with her genetic condition. Just an “added bonus”, as we say.
We visited the Connective Tissue Dysplasia Clinic at Westmead Hospital, who checked her development – all fine - and gave us advice about a few things we would need to look into further when Jasmine is older, such as getting on the toilet, into bed, and so on. They also gave us a growth chart for Mulibrey Nanism, but we have not yet been able to understand it as it is in Finnish.
Where do we go from here?? We tried contacting the University in Finland where Jasmine’s DNA had been sent and we got nowhere there either. We contacted every organization we could find and to this date still have very limited information. We are not sure who we should be seeing, or when we should be seeing them. Nor do we really know how Jasmine will be affected throughout her life by this condition. How do we explain to her when she is older what she has, when we don’t really understand it ourselves? How do we give her the hope that she will be able to lead a normal life like her friends, when we don’t know? We need to find some answers for us and for Jasmine.
Recently we were lucky enough to get in contact with a family in America who has a 12 year old boy with Mulibrey Nanism. They have been gracious enough to share their story and their search for answers with us. This has helped and inspired me to write Jasmine’s story, in an attempt to get it out to as many people as possible. Hopefully this story will find its way to a medical professional who will want to help us find some answers for our little girl. Hopefully this story might also find its way to parents of a child who may have symptoms similar to Jasmine, and by being aware of this condition will lead to an earlier diagnosis.
So far, Jasmine’s journey has been a very challenging one - but hopefully it will continue to lead in the right direction. There’s something about Jasmine that just stops people in the streets. It’s amazing the effect she has on people. She radiates happiness. She has a giant spirit for such a little girl and is always smiling and full of energy. People often ask my husband and I how we coped through all of this, and we always tell them the same thing - Jasmine is the one that gets us through. If she can smile then we have no right but to smile with her. She is my hero and my princess. All we would like for her now is to get her through each day of her remission process, have her classed as cured in five years’ time, and hopefully succeed in our search for answers. After all, this isn’t just any search and rescue mission: it’s for our Jasmine’s health and well being.
Kim