Aisha Chaudhary was born with SCID, Severe Combined Immune Deficiency. She currently also suffers from pulmonary fibrosis. We can all learn to appreciate life a little more after hearing the inspiring words of this amazing young lady.
Like Voltaire, she believes a shipwreck gives us an opportunity to sing in the life boats. Little Aisha Chaudhary teaches us a big lesson even as she is battling a life-threatening medical condition. All of 15, Aisha has taught herself to paint, take pictures, run with her dog and dance at her cousin’s wedding, not just once but twice. Aisha learned art at the American Embassy School. “You live every moment twice, once in your mind and once when you actually live it,” she said to a standing ovation.
Recorded at INK2011, Jaipur, India click link to view.
By Lisa Mayorga
Saturday, Sep. 17, 2011 | 12:00 AM Modified Fri, Sep 16, 2011 03:15 PM
My granddaughter, Annalou Bojorquez, was born at Clovis Community Hospital on Oct. 9, 2010, with an often fatal immune deficiency called Severe Combined Immunodeficiency or SCID.
At birth, Annalou weighed 7 pounds, 1 ounce, and appeared to be a healthy baby. Prior to leaving the hospital, she underwent all newborn screening tests that were made available to her.
In early November, my daughter, Elena, received a phone call from Annalou’s pediatrician, Dr. Harish Saigal, informing her that Annalou’s test resulted in an abnormal reading. He requested a second test be performed to rule out any abnormalities.
On Nov. 11, Dr. Saigal informed us that the second test resulted in a diagnosis of an immune deficiency called SCID. Annalou was the very first child in California to be diagnosed with an immune deficiency based on the newborn screening pilot program for SCID initiated in August 2010.
Dr. Saigal said she would require a bone marrow transplant and would be treated at the University of California at San Francisco. Her condition was life-threatening and it was imperative that she be isolated, free from contact of common infections that could be fatal for her.
At UCSF, we met Dr. Jennifer Puck who, along with the bone marrow transplant team, would treat Annalou’s condition. With Elena as the donor, Annalou received her BMT on Dec. 9, and IvIG treatments to help build antibodies in developing her own immune system.
In February, Annalou was discharged from UCSF. However, she was to remain isolated at home and received her treatments every three weeks at UCSF. Eventually, she was released from isolation, but we continued her care very cautiously.
In June, Elena received a call from UCSF informing her that Annalou’s treatment had been successful. Her “B” cells were fully functioning and no longer needed treatment. Annalou was totally “SCID free” at age 6 months.
Overwhelmed with joy, we cried, laughed and celebrated in thanksgiving for an answered prayer.
Sacramento Assembly member and pediatrician Dr. Richard Pan has written Assembly Bill 395 to make the SCID screening pilot program that saved Annalou a permanent part of California’s newborn screening process. We hope Gov. Jerry Brown signs AB 395 into law so that all California babies are protected from SCID.
Our experience with Annalou’s diagnosis has been informative yet gratifying to know that we owe her early diagnosis to the newborn screening. Had we not been informed so early in her life, it could have been fatal. We learned that children with SCID generally do not live past 1 year.
In addition, I am proud of the brave young mother Elena has become, by giving so unselfishly to her daughter. She is a great mom and they will share a close bond that will forever embrace them.
We are so very thankful to everyone who contributed to the wonderful care Annalou received at UCSF including Dr. Puck, Dr. Mortan Cowan, Dr. Christopher Dvorak, Dr. Biijana Horn, our social workers (Xin-Huan Chen, Amanda Kice, Anu Sood) and the awesome nursing staffs of the PCRC and BMT units.
Thanks also to the San Francisco Ronald McDonald and Family House of San Francisco for providing us with housing, moral support and friendship, to the March of Dimes for providing us with knowledge and a voice to tell our story, and most of all to our family and friends who have provided us with the love, support and many prayers that helped us get through the difficult time.
This cooperation has helped protect my family and I am hopeful the governor will sign AB 395 into law so that expanded newborn screening can help give more California newborns a healthier start to life.
by Wendy Rigby / KENS 5
Posted on September 12, 2011 at 11:23 AM
SAN ANTONIO — Her parents call her their “miracle child.” A South Texas baby has a second chance at life thanks to a successful cord blood transplant in San Antonio.
At 10 months old, Valentina DeLeon’s parents knew there was a problem. She weighed only 13 pounds. She was a sickly child with a frightening diagnosis: severe combined immunodeficiency (SCID). It’s a rare disorder made famous by the so-called “Bubble Boy” in the 1970s.
“She was super skinny,” recalled Valentina’s mother, Karina Chapa. “She was sick all the time. She was vomiting. She was throwing up all the time. She wasn’t eating.”
The child’s Rio Grande Valley doctors sent her to Methodist Children’s Hospital in San Antonio.
Dr. Ka Wah Chan ordered high-dose chemotherapy for Valentina and then a cord blood transplant.
Donated cord blood from a stranger turned out to be a match for this baby in need. The cells helped create a new, stronger, normal immune system for a girl who faced a grim diagnosis without it.
“The cord blood is thrown away anyway,” Chan explained. “Nobody saves cord blood. But it can be used. And it can particularly be used in this type of situation when you can do a transplant and save a life.”
Today, five months after transplant, Valentina weighs more than 9 kilograms. That’s 21 pounds. Her doctors are cautiously optimistic about her long-term prognosis.
Valentina’s parents are finally able to take her home to the Valley. They’re grateful to the woman who donated a by-product of birth that used to be considered medical waste.
“It’s changed her life and it was a miracle,” Chapa said. “She’s alive and she’s healthy and I’m just thankful. Very thankful.”
Until recent years, this immune disorder was almost always fatal. Valentina’s mother said every day her daughter is alive is a celebration.
Having a child is one of life’s greatest gifts. But, imagine having that gift taken away after only nine months.
That’s what happened to one College Station family.
Their seemingly healthy baby boy died in March from a disease rarely diagnosed, but treatable.
Now his mother is on a mission to raise awareness and save babies lives.
“He was just a really sweet, sweet little baby,” mother Jennifer Garcia said.
For the first seven months of life her son Cameron was perfectly healthy, but then he got a cold that didn’t go away.
“They noticed he sounded a little wheezy and of course immediately you think the head cold has just settled in his chest,” Garcia said.
Doctors diagnosed him with pneumonia and when it didn’t get better he was taken to Houston. After three weeks of tests doctors determined he had Severe Combined Immunodeficiency or SCID also known as the Bubble Boy Disease.
Cameron couldn’t develop a normal immune system and two weeks later he was gone.
“We had to literally make the decision what do we do from here,” Garcia said. “We had to hold him and take him off the ventilator and it was a very hard decision that no parent should ever have to make.”
SCID can occur in about one in 40,000 newborns. Although rare, if identified early, babies like Cameron can be treated with a bone marrow transplant.
“These kids can get cured, they can live a normal life,” Dr. Susan Pacheco with the University of Texas-Houston Medical School said.
Pacheco is the Houston immunologist who diagnosed Cameron.
“This is a fatal disease if it goes untreated and the outcome for after a transplant is much higher the early that you diagnose and the sooner that you treat,” Pacheco said.
A simple blood test at birth, costing between $5 and $7 dollars, determines if a newborn has SCID.
But the problem is, the test is not part of the Texas newborn screening panel. Cameron wasn’t tested at birth.
Jennifer is fighting to change that.
“I feel like I left the hospital running out the door saying how could this happen and I don’t want this to happen to another baby in Texas,” Garcia said.
Jennifer is one of many working on getting SCID added to the list of screening tests all Texas newborns are recommended to get. Five states currently test for the disease.
Florida’s governor like others in the past recently vetoed a bill, citing economic reasons.
“When you want to talk about money. Cameron’s medical bills came to almost one million dollars. How many babies could you have screened for a million dollars,” Garcia said.
Jennifer says she won’t give up until all babies are given a chance at survival. A chance Cameron did not get.
An opt-in pilot program is being conducted in Texas and the College Station Medical Center is on board. Starting in the fall or winter, the College Station hospital will start testing babies for SCID.
The Texas Department of State Health Services is conducting the pilot program. Results will help determine the best way to test for SCID when funding is available to add it to the Texas newborn screening panel.
Jennifer is also working with local lawmakers, hoping one will carry legislation into the next legislative session.
Click here to learn more about Texas pilot program
If you have any questions for Jennifer Garcia, you can reach her at firstname.lastname@example.org.
WITH a cheeky smile and bucket-loads of energy, little Toby Booth seems like any other child as he plays at home.
But the 7-year-old has more reason than most to be cheerful following life-changing surgery for a condition that affects only a handful of children in the world.
Toby suffers from Severe Combined Immunodeficiency (SCID), which puts him at risk of life-threatening complications, including organ damage.
His condition is so complex that he has to be monitored by a team of specialist medics at The Children’s Hospital in Sheffield on a weekly basis.
And after his illness caused problems with his gallbladder, doctors carried out surgery to remove it.
Mum Helen Booth, 46, of Saxilby, says the pioneering keyhole surgery, coupled with drug infusions to help him fight infections, have given her son a “new lease of life”.
“With Toby’s condition, it has literally been like the film, Boy In The Bubble,” said Mrs Booth, a full-time mum and carer for Toby.
“Now, he goes to school and lives the life of a normal little boy. We went down to Poole and he went on to the beach and swimming – things that he had never been able to do before.
“This is what we’ve been fighting for, for Toby to have a normal life. You can’t have him go through all of this and then tell him that he can’t live a regular life.
“He’s the most cheerful and happy little boy and he never feels sorry for himself.”
Toby was diagnosed with the genetic condition aged two and has already overcome a series of life-threatening complications.
When he was just 3 years old, he had his spleen removed and a bone marrow transplant.
The recent operation at The Children’s Hospital by consultant paediatric surgeon Sean Marven, is hoped to help prevent further complications.
“Toby made a remarkably fast recovery after his surgery. He was up and about the next morning,” said Mrs Booth.
“We’ve been with the hospital for many years and have always been impressed with the care Toby has received from the whole team.
“He’s a very resilient character and we’re very proud of the way he copes with his condition.”
Mr Marven said: “The advantage of keyhole surgery is that the patient has just a couple of small incisions in their abdomen so they recover far more quickly than if they’d had traditional surgery.
“The next morning, Toby was out of bed and running around. We’ve only done a couple of gallbladder operations like this so far and they’ve all been highly successful.
“We like to be able to offer our patients the fastest and most reliable operations which get them back on their feet fast and have fewer risks.”