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(Ally Donnelly, NECN: Boston, MA) - A Boston hospital has received a grant to establish the world's first-ever center to study orphan diseases. An orphan disease is any disease or disorder affecting less than 200,000 people in the United States.
Because the disorders affect so few, researchers have a difficult time getting government or private funding. But as one Massachusetts family knows -- research can make the difference...between life and death
Andy Trevino just wants to play air hockey. Being dragged back to this hospital playroom and having a camera stuck in his face is not making things easier.
It's understandable that he's a little shy. The 8-year-old Sudbury, Massachusetts boy has had all the extra attention he needs in his young, tumultuous life.
Paulina, Mother: Two days after he was born, he got a fever and I thought, well, give him some Tylenol or something and that's it.
Unfortunately that would not be it. Andy -- born in Mexico City -- had a blood infection and would stay in the hospital's ICU for more than two weeks. When his parents finally brought their son home, they were not out of the woods.
Andres, Father: First it was a stomach infection then a central nervous system infection also known as meningitis, then he had pneumonia...
His infections were life threatening. Mexican doctors ran every test they could think of... But again and again they came up empty.
Paulina: It hurts a lot to see nurses and people poking at him all the time and watching him crying...
Andres: They were telling us that he had bad luck and we didn't take that for an answer.
The Trevino's had spent 375 days in the hospital in Mexico. Their money was dwindling, but not their hope. They had heard that Boston was the best -- so they came here, to Children's Hospital -- desperate for a medical miracle.
The moment we stepped into the ER, it felt safe.
The Trevino's met with a team of doctors and researchers at the renowned teaching hospital, which immediately went to work. The team soon discovered that Andy had a rare congenital disease. A glitch on one of his genes -- known as Nemo -- wasn't allowing his immune system to battle infection.
Alan Beggs, Children's Hospital: Because they had seen a large number of patients with an immune deficiency, they were able to predict what his defect might be and identify it for his family.
The family had few options. They could make Andy comfortable with medication, knowing his disease was terminal. They could get a transplant to replace his immune system or they could try and replace Andy's faulty cells with healthy cells from a new donor.
Unfortunately, they couldn't find a match trough the public donor registry for an immune system transplant and to replace Andy's unhealthy cells, they'd need a perfect donor -- like a sibling -- and Andy was an only child.
Andres: She was born March 14, 2004.
Though they knew some people would question their ethics, the Trevino's --- who had always planned on more children -- had Andy's sister -- and savior --- Sofia.
Andres: The first sound I heard when she cried were just the most incredible sound I've ever heard.
Children's doctors were able to take Sofia's bone marrow cells and infuse them into Andy's. Her healthy cells replaced his bad cells and his immune system rebuilt itself.
Andres: To see that he's cured, it's just...incredible.
Andy had what is known as an orphan disease -- a disease that affects less than 200-thousand people in the United States.
Beggs: In fact there may be only a few hundred patients or only a few 10s of patients with any particular disease, so it takes a center that sees a number of these things to bring these cases together.
Alan Beggs runs the new Manton center for orphan disease research. Established with a recent 25 million dollar gift to the hospital, it creates a dream team of researchers to work collaboratively.
The hope is that findings in the lab can translate into treatments in the field. Treatments not only for orphan diseases -- which are historically under funded, but a wide spectrum of conditions from cancer to Parkinson's. Take for example the stem cell researcher who has made significant advances in his own field.
He can create cells that could regenerate muscle for some of my patients or maybe regenerate nerves for some of the neurology patients and so on.
When the Trevino's came to children's in 2001, there was no Manton center, but they say their support will never waiver.
Andres: once they learn about it, they take it to the clinic and once they take it to the clinic they help more children and at the end of the day they save more lives.
More lives....like Andy's. He is now a thriving third grader who loves nothing more than playing with his best friend....his sister.
Please continue to pray for Justin. That he will not find GVHD, and no more pain.
Justin Cilia is an 8 year old boy. Who underwent transplant on June 22nd. He has been sick since he was six weeks old. He has had a few very serious infections. He has been in and out of the hospital on numerous occasions. He was diagnosed in 2002 with an immune deficiency. He started gammaglobulin infusions a.k.a. IVIG in October of 2002. He has received IVIG monthly at CPMC. It was not until about two years ago that Justin's condition continued to get worse. He was diagnosed with auto-immune hemolytic anemia. He was given Rituxan to treat the disease. This was after much reseach with other Dr. The next year he developed a micro-bacteria infection that but him in the hospital for a few months. He had treatment of antibiotics for over 6 months. That is when we decided to contact Dr. Bleesing at Childrens' Hospital. After we met with Dr. Bleesing in June 2006. He did a lot of additional testing on Justin. He also contacted the NIH in Baltimore. That is when Justin was Diagnosed with NEMO. The only cure for NEMO is a Bone Marrow transplant.Taken rom Rhys Dad Blog.
I knew Ward 23 Newcastle was the 'last chance saloon' as it is for all those kids. And was not a dignified death, however where there is life there is hope, and I believed in the Prof and Mario,, but most of all I believed in Rhys.
So we proceeded, I would like to say that we went in nice, quiet and dignified, but all those that know me, know that is not my way... This was WAR and I treated it as such..sand bags out and digging in! I watched and questioned everyone, and nobody that did not get my respect was allowed in the room, only the best was good enough. I was tough on them, tough on me, tough on my loving wife.
It was horrible watching your own son disitergrate in front of your very eyes... The chemo wipes out your immune system. Your immune system is also your throat lining, stomach lining, intestinal lining, all this was ripped apart in order for us to get to day ZERO... Zero immune system, no protection, but allowing his new bone marrow to be introduced.
More here.
Bubble wrapped boy returns home
Jul 13, 2008 by Nathan Bevan, Wales On Sunday
HE looks like any other seven-year-old with a happy-go-lucky gap-toothed grin.
But Rhys Harris, from Newbridge, has a special reason for such a big smile.
He's back home in Wales safe and well after almost a year away battling a rare killer disease. Doctors had given him only 18 months to live.
"Honestly, it's like he's never been away," said proud dad Kevin, a former car salesman who uprooted the entire family to Newcastle last October to be near one of only two hospitals in the UK where his son could get the specialist care he needed.
"Rhys couldn't wait to get back and had been counting down the days on a little calendar, just like he always does just before Christmas."
In December 2006, Wales On Sunday broke the news the Hollybush Primary School pupil had been diagnosed as having Nemo, a terminal condition that affects only 35 people in the world, attacking the body's immune system. We revealed how, after he contracted TB, his parents Kevin and Dawn were given the agonising choice of watching their son slowly die or risk him having a bone marrow transplant and the chemotherapy killing him instead.
"The doctors told us that if Rhys continued with his regime of drugs then he only had six months to a year left to live and, as parents, we just couldn't accept that," said Kevin, 44.
In September, Rhys' family were told a bone marrow match had been found in the US. Agonisingly, this meant Rhys would have to live in a special isolation "bubble" to stave off risk of infection, Kevin and his wife Dawn being unable to so much as give him a kiss.
But he recovered so quickly from the life-threatening surgery he was discharged after two months. Since then, Rhys has defied the odds and been declared free of Nemo.
"It's amazing," said an emotional Kevin last night. "To think, the day before his transplant I'd considered not signing the consent form because I'd rather he came home to die with dignity and have his family around him.
"But deep down I knew we could never give up hope," he added.
"Now, clinically speaking, we're more or less out of the woods. But because Nemo is so rare and not enough is known about it, the doctors are hedging their bets and keeping him on a course of drugs."
So what's next then for little Rhys?
"A family holiday and then it's back to school in September - he's excited about seeing his class mates again," said Kevin, who added that he was forever indebted for the tireless support he and his family had received throughout their gruelling ordeal.
"We had everything, from people in the Valleys sending £5 cheques in the post to the Benevolent Fund of the RAF, in which I served for a number of years, paying our mortgage for a year, as well as our rent on the Newcastle flat.
"When things like that happen it really restores your faith in humanity, knowing that so many people care.
"Now Rhys is better I want to get involved in charity work myself, and maybe do some good for other families who weren't as lucky as us."
Boy in the bubble can play in the park again
Jun 12 2008 by Abbie Wightwick, South Wales Echo
He couldn't even have a hug from his mum for fear of infection, but after a lifesaving bone marrow transplant at Newcastle General Hospital little Rhys Harris is on the mend. Abbie Wightwick finds the family is now making plans to return to Wales...
RHYS Harris spent two months in an airtight bubble in an attempt to save his life but now he's back playing rugby and tucking into his favourite meal of roast chicken after fighting a rare genetic disease.
The seven-year-old from Newbridge, Caerphilly, who could not even have a hug from his mum for fear of infection, has been cared for by doctors in Newcastle since last October.
Dad Kevin, 44, mum Dawn, 39, and brother Morgan, five, all moved north to be with him for a lifesaving bone marrow transplant.
Now doctors at Newcastle General Hospital say Rhys is on the mend at last and the family plans to return to Wales in the next couple of months.
Consultant Dr Mario Abinum said he would not know whether Rhys had been cured until further tests in the autumn, although it was "looking very positive".
"It's great news," Dr Abinum said.
"Rhys is great. He's doing OK and putting on weight. We can't say he's cured because it's only seven months since the transplant.
"We need to do more at 12 months. But so far everything is excellent."
This time last year Rhys was dying from the genetic disease Nemo, which attacked his immune system leaving him unable to fight infection.
Doctors at the University Hospital of Wales in Cardiff got in touch with Professor Andrew Kent in Newcastle who advised a bone marrow transplant.
A desperate hunt against the clock then began for a match. But even when a match was found in the USA, Kevin and Dawn were unable to celebrate.
Kevin wanted to pull out on the day the transplant was scheduled, fearing the risks which could also kill his son.
"You should be elated but as a parent you then have to ask whether you will put your child through it all," Kevin said. "We had to make the decision to sign a bit of paper that could have been Rhys' death warrant.
"Until the day of the transplant I was still going to pull out. Do you let your child die with dignity or let him go through chemotherapy? Chemotherapy is a horrible thing and so is isolation.
"We had a terrible week and then Professor Kent just told me there was no option. He sat me down and changed my mind.
"He is the only person who could change my mind. He is a wonderful man.
"Now we are out the other end. We have a life with Rhys now that was not with us last year.
"We have a future now that we were told we would never have this time last year. We can plan ahead.
"I can get home and get a job and Rhys can go to school."
In the meantime, Rhys, a pupil at Hollybush Primary in Cwmbran, is enjoying finding his feet in the world again, playing in the park and meeting other children.
During his two months in isolation, Rhys could not even be comforted with a cuddle from his mum because his immune system had been killed off by chemotherapy.
Before the bone marrow transplant pumped a new immune system into his body, any bug could have killed him.
His parents are still wary when people cough nearby, but they can take Rhys to kick his treasured rugby ball in the park again.
"He's able to interact with other children now. But until the tests in October, which will be a year since the transplant, we will be on edge a bit," Kevin said.
"We can't really say the 'c' word for cure yet but it's positive news and Rhys is home with us.
"Rhys plays rugby but is not able to go back to school yet. A tutor comes to the house twice a week. He's a normal seven-year-old boy and he needs challenges. We try to keep contact with his friends in Wales. He misses them.
"I try to go home every couple of months. It's very odd.
"We've made a life for ourselves here now. Morgan goes to school here and the other parents have been so supportive.
"We're looking forward to going back; it will also be hard. When you go through an experience like we have, the place you're in becomes very poignant. It's beautiful up here and the people are lovely."
Rhys was left profoundly deaf by meningitis when he was small, and Kevin was training to be an audiologist and studying for a degree when he fell ill with Nemo.
Now Kevin wants to take his life off hold.
He has been studying sign language and Spanish and wants to work for a charity.
"You have to do something else. I like nothing more than going for a run or out on my bike. I had to do something with my time when I stopped working.
"Rhys needed us to help pull through. The whole of Wales has helped pull him through too. The Cardiff Blues, Ospreys, the Dragons, the WRU and the whole Welsh rugby team spoiled him and made a fuss of him.
"They helped to make a little child happy and I think that helped him to keep strong.
"If it was not for people being like that I honestly don't think he would be here today. A smile is as good as medicine."
Kevin now wants to increase awareness about the bone marrow register and get more people to sign up as potential donors.
"At any one time 7,500 people in the UK need a bone marrow transplant. It's a transfusion not a transplant. We would get thousands more people immediately if they called it a transfusion. People get put off by the word transplant.
"The whole of Pontypridd Rugby Club are all on the register now.
"If someone went past a river and saw a child in there 99% would go in and help."
That is one reason why Kevin and Dawn have always kept good relations with the media. They hope the exposure may highlight the need for more donors.
Last week they were besieged by the world's media after someone wrongly reported Rhys had been "cured".
Dawn and Kevin admitted it all got a bit much.
"Dawn and I are very private people but we made a conscious decision to talk to the media to help find a bone marrow donor that matched," said Kevin.
"It's not easy to talk about what we've been through, especially for my wife.
"But we decided we had to do it. It was part of our mission to find a donor."
Dawn, like any mother, now wants what seemed an impossible dream a year ago.
"Hopefully, Rhys will have a long and happy life," she said.
04 June 2008
Finding NEMO's Happy Ending
A young boy has reputedly become the first child in the UK to be cured of a rare genetic illness.
Rhys Harris, 7, from Newbridge, south Wales, has survived treatment, which has given him a new immune system.
Rhys had to endure living in a 'plastic bubble' - which ensured he was kept in sterile isolation - for two months, meaning his parents couldn't touch him.
Rhys was diagnosed with an incurable genetic disease called NEMO which affects the immune system and other organs of the body, when he was three.
The disease, of which there have only been 40 reported cases since 2001, rendered his immune system deficient.
Experts at Newcastle General Hospital gave young Rhys only a one in three chance of survival.
However, when a bone marrow was found in the United States, Rhys underwent a life saving transplant - before which his own bone marrow was killed by chemotherapy.
Mario Abinun, Consultant Paediatric Immunologist at Newcastle General Hospital said that Rhys "has already gotten over a few hurdles and all the indicators and laboratory reports show he is doing fine".
Mr Abinun added that Rhys will not be given a clean bill of health until at least the autumn.
Rhys' father, Kevin, 44 said he knew it was a "slim chance" the treatment might work but he and his wife, Dawn, had to take it.
"The flipside of the coin just wasn't worth thinking about," he said.
(DS)
Source
From his Dad blog:
Saturday 6:30: Giovanni is coming strong: The vent is off tomorrow. He's still sedated but further taking command of his respiratory system, his vent numbers ranging from high 5's and over 10, and that's enough to remove the vent. His femoral line is being pulled, his cultures are negatve ruling out any infections including pneumonia, and his white cell count is going down. He's opening his eyes for the 1st time in a week and holding our hands, but he keeps breaking through the sedation so they have to keep increasing the morphine, which means extra days in the hospital to reduce the meds and minimize withdrawals. We are very happy parents and if Giovanni keeps making these gains he'll be home next week. That which does not kill us only makes us stronger." Nietzsche
More here
From Giovanni's Dad blog:
Giovanni is once again in a struggle for life, yesterday was yet another battle he has fought in his war for life and I can only hope that the master of his destiny is friend and not foe. Giovanni is currently stable but he is in serious condition and could die. A prospect that destroys me yet one I must acknowledge for that is our reality. As I sit here contemplating the events of yesterday, realizing how close my boy neared death, I'm completely exhausted yet I cannot sleep. Instead, I think about the days he's blessed my life. the smiles shined on my day, and the happiness he's showered upon my life. I've faced death, many times, and known no fear like that of watching one's child descend the road towards death versus life.More here
After a few days away we remain anxious and exhausted. Simons symptoms seemed to have gotton worse. I wonder if taking him off of any meds was a good idea. That is the problem with all of this everyone is guessing and noone can tell us the right thing to do to help him.More here.
