Madeleine was born on September 5th, 2004. Everything appeared normal until some unusual symptoms at 6 months old. Her diagnosis from Great Ormond Street was quick, she had a Hypothalamic Hamartoma (HH), a rare type of brain tumor.
We were constantly watching for seizures, common with this diagnosis, but thankfully they never appeared. On the outside, you wouldn’t know there were any issues. As Madeleine grew it was very clear that she wanted to eat constantly and was gaining weight at an unprecedented rate. In the final years, this weight gain was 8 kgs every 6 months and this was on a healthy diet (Mum is a nutritionist). She was also headed squarely for Diabetes and all the complications that brings. Her mood was often, antagonistic. She did well at school but found it hard to keep her concentration on the page, she described ‘fighting’ to keep her focus. She struggled with friendships, often being intolerant of her peers but happy in the company of adults. The want to eat overshadowed most of Madeleine’s daily life. Aside from all of this she was also amazing, incredibly chatty, and engaging but battling, unseen, constantly with her issues.
As a young baby, when the diagnosis came in, we were constantly researching to find solutions. We knew that conventional surgery was too risky but had been hopeful that a surgery we had been reading about, Focused Ultrasound, may, eventually offer her hope.
In the final year before her procedure, to ease the burden of her condition, we did 2 things, we bought a beautiful dog called Dylan who helped Madeleine in so many ways and Madeleine totally stopped eating during the day on school days and only ate in the evening, this slowed her weight gain to 4 kgs in the final year before her operation. It also allowed her a certain amount of freedom from the constant need to eat as we realized that the need to eat began when she started eating in the morning, she literally could not stop, but if she did not start to eat, she could go all day without food and without the constant feeling of needing to eat. This was a short-term solution and we knew we needed something more permanent and manageable. There is no drug or surgical cure for hyperphagia and hypothalamic obesity.
In Early 2018 we contacted Abel Ortega, the clinical nurse leading the trial and who guided Madeleine and I throughout all of our hospital visits.
Fast forward to October 16, 2019, after one trip out to Nicklaus Children’s Hospital in Miami, Florida and not fitting the criteria for surgery in 2018, we were again in Miami for an operation to ablate part of her tumor using MRI guided Focused Ultrasound under the care of Dr. John Ragheb (click to hear Dr. Ragheb’s summary from the 2019 HH Internation Symposium) and Dr. Ian Miller. So many people, with so much expertise, were in the MRI suite that day, it was humbling. We had cut Madeleine’s hair off the night before and then Dr. Ragheb did the final shave. We kissed her goodbye and consoled her sister Jessy, who was in pieces.
I felt an overwhelming sense of calm whilst she was in the MRI suite that is hard to describe. Madeleine was taken down at 7.30 and was in recovery by 13.30. The first conversation with her in recovery was emotional as we realized she was OK.
The surgery is incision-less and consists of the patient wearing a cap that enables multiple beams of ultrasound to be aimed at a specific location and to burn that location very precisely. The patient’s skull is cooled constantly during the op to prevent heat damage and the head is held in place with a clamp. Dr. Ragheb targeted the stalk of the tumor and put a hole in it.
Madeleine’s tumor was ideal to target as it dangled down from the base of her hypothalamus. It was classified as pedunculated. The parahypothalamic (or pedunculated) HH is more often associated with precocious puberty and not usually associated with epilepsy or neuro-developmental problems.
There were no guarantees for us in terms of her outcome as it’s hard to take an in-depth look into the tumor (and the hypothalamus), essentially you do not really know what function you will take away. We just hoped all the abnormal cells were in the tumor and that we would be lucky and above all remove the constant need to eat. Often, after brain surgery involving HH, there are some significant side effects.
Dr. Ragheb had said the surgery could not have gone better. Madeleine would have been released from the hospital the next day if she hadn’t reacted to some medication. Being released so early after central brain surgery is incredible. She left 48 hours after her operation.
All of Madeleine’s symptoms stopped instantly.
It has been absolutely magical and has finally given her freedom. Initially she would still order lots of food but could only eat a normal amount. We are now 6 months post op and she is 13 kgs lighter as her body finds its natural balance.
Insightec is the company behind this cutting-edge incision-less surgery and the Focused Ultrasound Foundation raises funds for research. Madeleine’s surgery was performed as part of a clinical trial in which they need 10 participants, she was participant number 5 and to date, there have been 6 patients go through the procedure. Information regarding this trial can be found here: https://clinicaltrials.gov/ct2/show/NCT03028246 .
As far as we know this is a world first in curing hypothalamic obesity and hyperphagia.
Between the care at Great Ormond Street Hospital under Professor Dattani and the team in Miami under the care of Dr. Ragheb, Madeleine is now able to live a normal life which just would not have happened without the incredible efforts of so many talented and dedicated people.
We will forever be grateful to everyone involved in her care.
Amanda (Madeleine’s mum)
Share Your Story and Give Others HOPE
If you are a young adult or caregiver and would like to share your story – please reach out to us. Please complete this form and our volunteers will help. You don’t have to be a professional writer, we are happy to help you write your story!