All for one
by Matthew Cyr and Andres Treviño
Andy Treviño was born on May 15, 1999, the first child of Andres and Paulina Treviño. Only 48 hours into little Andy's life, he got a fever that proved to be the first shot fired by Andy's immune system in a potentially deadly battle that has gone on for six years.
In that time, the Treviños moved to Boston from their native Mexico and had a second child who gave part of herself so Andy could have a chance at survival.
Early on, Andres started a Web log, or blog, so he could let family and friends know how Andy was doing. It is written in his native Spanish and his second language, English, and has since become a place for the Treviños to vent, worry, hope and celebrate.
Below are excerpts from the blog (all of which are in black) that show the lengths families are willing to go to help their children get well and the things they learn along the way.
Paulina and I decided to leave family, friends and everything else behind when Andy was not doing well, and all the medical research and treatment in Mexico had reached their limits. Since the first moment we walked into Children's Hospital Boston, I knew Andy was going to make it.
He has a history of life-threatening infections, but the worst damage has been to his digestive system. His main problem is ulcerative colitis, which is an inflammatory bowel disease. Thanks to [Children's gastroenterologist] Dr. Samuel Nurko, we've moved from parenteral nutrition (nutrients through a central line direct to the bloodstream) to enteral nutrition (nutrition through a tube to the stomach) and nutrition by mouth.
Today Andy is a very happy boy. He has a great tendency to laugh at everything he encounters. He wakes up every morning shouting "Mom, Dad I'm awake!! Sun is UP!! I want to play with my toys!"
Andy's condition has given us the opportunity to do our best; we are always by his side if he needs to be in the hospital. We've learned to cherish health. We've also learned, in those hard hospital days, to love God. And now we're ready to help others; hopefully Andy will do this and better when he grows up.
Andy, you were attacked by a virus and some bacteria since you were little. This provoked a lot of hospital stays, too many hospital nights.
This attack damaged your defenses. Your immune system is in charge of defending you against infections. Your main enemy has been cytomegalovirus (CMV) [1], which attacked your stomach. We have given you antibiotics and antivirals. These medicines have helped
a lot, but they're not good in excess because they can cause other problems.
As you know, we have prayed a lot, and we're doing whatever needed to help you adjust your defenses. After you win this battle, there will be no unbeaten barrier in your life.
We have learned a lot together. You will make it. We love you.
Mom and Dad.
Children's Hospital Boston researchers Raif Geha, MD, Jordan Orange, MD, Francisco Bonilla, MD, PhD, Steven Gellis, MD, and Lynda Schneider, MD, discovered that Andy had a mutation on the Nuclear Factor Kappa B Essential Modifier (NEMO) gene. This mutation led to a life-threatening condition known as Primary Immune Deficiency (PID), [2] which caused Andy's immune system to fail.
Knowing the exact genetic mutation gave the
Treviño's several options to treat Andy:
1) Maintain: Use antibiotics and antivirals for life to protect him from infections and give regular IV infusions of gamma globulin (antibodies obtained from blood donors).
2) Enhance: Boost Andy's immune response with medications, proteins and regular IV infusions of gamma globulin.
3) Replace: A stem cell transplant [3] (also called
a bone marrow transplant) to give Andy a new immune system.
Why are you still in the hospital?
Andy, after innumerable tests we've found that your cells are not producing a protein needed to activate your defenses against bacteria and viruses.
The first step we took was to give you this protein through injections. With this you were able to keep your defenses high against viruses that attacked you.
The second step will be to keep you strong to impede new infections because this is what has kept us in the hospital. But infections in your digestive system are not letting you have enough nutrients. We have more steps to go.
This road has taken us to places that medicine has never seen before.
Doctors told the Treviños that the success rate for a stem cell transplant with a non-matched, non-related donor was around 30 percent, and that the success rate with a matched related donor (a brother or sister) was around 90 percent. They recommended the stem cell transplant only if they found a full match, so the Treviños looked into three options: 1) Hope that a member of their family had the right genetic makeup—and no NEMO mutation—so Andy could get stem cells from a matched, related donor; 2) Find a fully compatible donor somewhere in the world through a bone marrow donor registry; or 3) Have a second child through in vitro fertilization (IVF) and use the stem-cell-rich blood from the umbilical cord to rebuild Andy's immune system.
Neither of the first two options panned out, so Andres and Paulina made the difficult choice of going through IVF to try and have another child who would be a genetic match to Andy and wouldn't have NEMO.
Meanwhile, they were consulting experts from around the country to learn more about Andy's illness and the risks of stem cell transplantation.
National Institutes of Health Visit Report
The NIH knows about 14 patients with NEMO mutations, but Andy is the only case they know about with a mutation on the fourth part of the NEMO gene. There is no case they know where a NEMO-mutated person lived for more than 20 years.
A stem cell transplant substitutes the NEMO gene, but it may also be a "problem exchange," meaning that the immune deficiency may be fixed by transplantation, but the chemo [4] used in the procedure may damage other organs.
The Treviños quickly decided that if they were going to go through IVF, they wanted to be as certain as possible that their new child would be a genetic match to Andy and wouldn't have NEMO. The NEMO gene is passed on by the mother, but only males can get the resulting PID. And since there's a 50 percent chance that any male born to a mother with the NEMO gene will get the disease, the Treviños decided that their best option was to have a girl.
To do so, they went to a fertility clinic for Preimplantation Genetic Diagnosis (PGD), a process that involves the removal of a single cell from a fertilized embryo to test it for genetic diseases.
But there are many opinions on whether PGD should be done. Here, Andres excerpts and reacts to a story in USA Today.
"To critics...the quest for a stem cell donor may be only the first step toward tissue donor mills and designer babies whose IQ and eye color are predetermined."
I would like to meet one of those critics. First of all I would tell them to remember the worst infection they've had. How did that feel? Now imagine that your body is unable to create an adequate defense. Imagine having to be in the hospital due to life-threatening infections and not even the strongest antibiotics help cure the infection.
My son Andy needs to boost his immune system to live. We've tried all sorts of medications, but they only go so far. We're constantly seeking more treatments and research. One option is to substitute his immune system, but for that we need a donor. And if we don't use a suitable donor, transplantation may be a higher risk than doing nothing.
What would be wrong is to not use PGD to help a child who has been through so much.
And I would also tell those critics that IVF and PGD are not easy. I can't imagine someone willing to go through all the stress and procedures involved just to find blue eyes.
Bienvenida Sofia [Welcome Sofia]
Hoy 14 de Marzo a las 6:13 pm EST, nació SOFIA en el Brighamand Women's Hospital en Boston, Massachusetts. [Today, March 14, at 6:13 pm, Sofia was born in the Brigham and Women's Hospital in Boston, Massachusetts.]
Sofia's arrival and health meant the Treviños could move ahead with Andy's stem cell transplant. They turned to Dr. Sung-Yun Pai, a stem cell transplant specialist with Dana-Farber/Children's Hospital Cancer Care, to do the procedure.
First dose of chemo starts @ 6 am today
Andy will receive Sofia's cells on October 29, on his 542nd day in the hospital.
Sofia is doing well. She's not allowed to enter the Stem Cell Transplant Unit. This means that Sofia and Andy may not be able to see each other for about a month and a half.
Andy had to have some screening blood tests prior to the transplant, so they called George Rapoza from the CAT/CR. He made our day! On his first try he got the samples needed. I've asked him how he does it and his only response has been, "I let gravity do the job." George deserves a statue! I told him that, and he said he'd rather have a house on an island. I don't know if George R. knows what his ability means to us and especially to Sofia and Andy.
The nurses on the Stem Cell Transplant Unit also take extraordinarily good care of Andy. This is undoubtedly the best place in the world where he could be.
The most valuable gift in all the world
Sofia, tomorrow you will share the most valuable gift in the entire world—a chance for life itself.
You are made of the "right stuff." We can only hope and pray to God that Andy is able to make good use of these cells and win the battle against NEMO immunodeficiency.
Remember your big brother is even bigger than his body, only God knows the outcome of this battle. I believe from the bottom of my heart and even from my bone marrow that Andy will win. He will keep on sharing with us that wonderful smile and in a few months he will be able to say to you THANK YOU!
Transplant Day - Happy Birthday Andy
Andy now has two birthdays:
May 15, 1999, October 29, 2004
Dear Stem Cells,
You come from a perfect place.
Your trip started last Friday, October 29; you left Sofia's bone marrow at around 11:30 am. You arrived in Andy's body and the first thing you saw was his heart. This heart welcomes you with courage, endurance, and hope, and reminds you that this is your new home and that it's perfectly compatible with your previous home.
You arrive to a deserted battleground, to a place where intense battles have been fought. Please find your way to Andy's bone marrow, you're needed there. On your way heal the wounds left from other battles. Feel at home, you are welcome.
This morning I noticed that Andy's pillow was full of hair. I told him "Look Andy, your pillow is full of hair," [5] he sat down on his bed, looked down on his pillow and started laughing...he thinks it's cool. We decided to trim his hair, but I had to go first. He has the advantage that his hair will grow back, mine won't.
The "pain button": This is the first time in more than 550 days of medical care that Andy decides for himself regarding his medical treatments. In this case he's the one that pushes the button when he feels pain. There needs to be a direct communication between the nurses and Andy. And he does great! Especially with Kelli Cole, [6] his primary nurse, certainly one of the strongest, most upbeat and gracious nurses we have ever met.
NEMO REPLACED
Andy's officially engrafted!![7] We feel extremely fortunate. New life for Andy! His cells should now be able to send defense
signals to his body.
In the future, he will be able to kiss all his girlfriends on the mouth!!.. and not worry about ending up in the hospital on IV antibiotics!
Our apartment is almost ready for Andy. When he gets home his immune system will still be very young. In the last few days we've been moving furniture to create more space and make it easier to clean. We have three air purifiers now. There are Purell wall dispensers in the kitchen, bathroom, bedroom and living room, and lots of Clorox wipes. We are and will be bacteria-, virus- and fungus-paranoid until Andy's bone marrow is strong.
This is a very exciting moment. We're going home tomorrow! We thank from the bottom of our hearts and from our bone marrow the team on 6 West.
Andy will still have to be isolated for at least six months. This means he can only be at home, at the clinic or at a park. No visitors, no restaurants, no shopping malls, no supermarket, no friend's house, no school. We will be in the clinic on a daily basis. He will need to wear a mask until we're assigned a room at the clinic.
At home there should be no more than three adults at a time with him, and they need to have had a chickenpox vaccination or been exposed to the virus in the distant past.
Andy is used to the hospital call button. When his pump was beeping he would push the nurse call button. Now at home Andy shouts, "Mama!!, Papa!!," Sofia wakes up and the four of us end up awake in the same room.
We had to figure out something. We present the Parent Call Button. With a Radio Shack 'Wireless Remote Switch' and a 'Dancing Santa'. Every time Andy needs something at night Paulina and I hear 'Dancing Santa' with something that goes like this: "Rocking around the Christmas tree, have a happy holiday...."
Last night we had three 'Dancing Santas.'
Andy is at home and extremely happy with Sofia. He enjoys her every move. It's like the best show he's ever seen, he laughs hard at whatever Sofia does. Andy can't believe Sofia's tendency to put everything she finds in her mouth. That's something he's never done.
Andy's back in the hospital - We're still hoping!
The diarrhea got worse, he had nausea.
We arrived at the ER at about 11:30 pm.
We decided to stay.
We still believe!! We believe that it will take time to take away the strong medications Andy's on due to the transplant procedure.
This will not be the first Christmas in the hospital. Santa knows how to find Andy.
New Year's in the hospital is not fun. But doctors, fellows, nurses, residents, clinical assistants, secretaries and cleaning people are still here, at least some of them; this place runs 24 x 7. I sort of hope that they could close for some days and that children would not need to be here.
No words
He was hiding and fighting his nausea in the morning, he knew it was not a good sign, and today was the day he was supposed to go home. He said "Dad, if I see Sofia I won't have nausea," he also said, "Dad, you give me nausea."
Nurses explaining things to parents, trying to understand parents' concerns.
Residents making sure he will have all the medications he needs at home.
Parents in need of a clear explanation about the nausea, vomit and diarrhea and want to take him home but don't think he's doing well.
And a positive CMV culture...
Andy crying because he wants to go home and play with his sister.
Andy at home, lots of laughs with Sofia. First time since Sept. 20 we haven't seen any doctor in more than 24 hours.
Major news: He's off steroids. His cheeks will deflate to a normal size and his temper is changing. Now when we tell him it's time for a bath, he only says "NO!" once...
Andy goes to school!
Andy's school has set up a special room for Andy. He will be the only student in that room, and the place will be kept clean.
We're going down on the medications and Andy is doing great (knock on wood). His stomach is stable, he looks stronger than a month ago when he left the hospital. He still has a central line but no IV meds since 15 days ago.
One of Andy's favorite phrases is "Sofia is my favorite sister." He enjoys watching her and laughs a lot while doing so. I think he enjoys watching her because he didn't have a chance to do all the things that she does at home. Andy was taking care of his central line since he was 4 months old.
So life goes on for the Treviños. After so many years here they have decided to move permanently to Massachusetts. Andy's immune system, which is actually Sofia's immune system, is still very vulnerable to infection. He can't be in crowded places without a mask on, and the family is constantly fending off infection. But they were encouraged recently when Andy's body fought off a virus on its own, something it couldn't have done a year ago. And as these final words from Andres show, he and Paulina have learned as much from their children as they've taught them.
Dear Sofia,
From you we have learned to love more. You have an amazing gift—your smile. It gives your brother Andy strength. Because of you, we have learned God's great effect over things and how important it is to help one another. Your mother, you and I have given everything we could to
help Andy win his battle, and I'm sure that Andy will do the same for us and others.
Dear Andy,
The more than six hundred days of hospitalization, injections, antibiotics, blood tests, x-rays, CAT scans, ultrasounds and OR visits have not scared us because they don't compare to the great love and admiration we have for you. We recognize how important good health is and how lucky we are to have it. We have learned from you to identify the things that are important; to make our best effort, always seeking what is true; and to live well and laugh stronger.
