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What is SCID and who is the “Boy in the Bubble”?

The story of David Vetter begins in 1971 at a time where there was little known about the nature of Severe Combined Immunodeficiency Disease (SCID). There are many types of primary immunodeficiency diseases, however, SCID is the most serious type.

April is National Primary Immunodeficiency Awareness Month and April 22-29 is World Primary Immunodeficiency Week.

The story of David Vetter begins in 1971 at a time where there was little known about the nature of Severe Combined Immunodeficiency Disease (SCID). There are many types of primary immunodeficiency diseases, however, SCID is the most serious type. Oftentimes referred to as the “boy in the bubble”, David’s life, from the onset,  had him confined to live in a sterile bubble crafted by NASA because his compromised immune system was unable to protect him from illnesses.  At that time, the only treatment for SCID was a bone marrow transplant from a matching donor and unfortunately there was no match in David’s family. By 1984, doctors tried a radical treatment for the time–a bone marrow transplant from a non-matching donor (David’s sister). Unfortunately, lurking within the bone marrow transplant from his sister was a dormant Epstein-Barr virus which caused David to develop an aggressive form of lymphoma and pass away 4 months after the transplant. The story of David Vetter is an important one for many reasons. It brought so much awareness to SCID and has had lasting impacts on the scientific breakthroughs associated with SCID. Furthermore, his reaction to the Epstein-Barr virus in the transplanted bone marrow led the scientific community to garner a better understanding of cancer as well.

BubbleBoy2.jpg
Image from: https://www.everydayhealth.com/columns/my-health-story/mother-of-the-boy-in-the-bubble-gives-his-short-life-a-long-legacy/

 

I stumbled across the story of David Vetter after clicking on a NY Times YouTube video entitled: “The Boy in the Bubble.” Having heard references to this “boy in the bubble” in many mainstream media sources, including a movie, I wanted to know more about the person who had to live their entire life confined in a bubble. Utterly captivated by how brave such a young boy had to have been to endure a life with SCID, I wanted to share the story again to The Student Scientist audience. It’s very common these days for conditions and ideas to garner large amounts of traction in the mainstream. For instance, the ALS Ice Bucket challenge was able to create a lasting impact on ALS research. However, I know that at least personally I didn’t know much about SCID at all but attaching a name, a story and a person to this debilitating illness really led me to want to share more about this today. The Boy that was in the Bubble and the boy that catalyzed a plethora of progression into our scientific knowledge of Severe Combined Immunodeficiency Disease is named David Vetter.

What is SCID?:

It is an immunodeficiency where T-lymphocytes and B-lymphocytes do not play their roles in the regular human immune response. Lymphocytes are the type of white blood cells responsible for enacting the immune response and so their absence is detrimental to the effects. There are 200 types of primary immunodeficiency diseases, however, SCID is the most

SCID is commonly x-linked and is linked to a recessive pattern of inheritance. Males have a XY chromosome and females have a XX chromosome therefore because this is X linked, males need only one copy of the gene to have the disorder. Females can inherit one defective chromosome and still have a healthy pair- not develop the disorder.

SCID_small.jpg
Image from: https://www.newbornscreening.info/Parents/otherdisorders/SCID.html

Types of SCID:

There are different molecular defects that may all lead to SCID. Of these it is most frequently (~3/4 of cases are one of these three):

*Gamma Chain Deficiency (45.5%)

*ADA Deficiency (16.5%) (ADA meaning Adenosine Deaminase)

*IL-7 R-alpha Deficiency (10%)

 

Current Treatment Options (ADA-SCID as an example)

  1. HLA Identical Bone Marrow Therapy (bone marrow of an identical match). Transplants with non-identical matches still have a high morbidity and mortality rate.
  2. Enzyme Replacement Therapy- weekly intramuscular injections of PEG-ADA. This doesn’t cure the illness it is just a “temporary fix” (hence the frequency)
  3. Retroviral Stem Cell Gene Therapy (retroviral insertions into a genome commonly result in high mutation rates increasing risk for other illnesses)
chart-Comparison-of-ADA-SCID.jpg
Image from: http://www.adagen.com/approaches_to_treatments.html

Though the story of David Vetter is now many decades old, on December 10,2018, a mere few months ago, Louisiana finally became the 50th state to officially begin screening newborns for SCID- approximately 47 years since David’s birth. The first state to screen newborns for SCID also did so relatively recently: Wisconsin in 2008 (about a decade ago). It is imperative to screen infants for SCID in order to maximize the chance of success for treatments such as bone marrow transplants. It is especially important to ensure that the infant has not yet acquired an infection– if it has then the chances of successful treatment are markedly reduced. Slowly but surely we have come to realize that SCID is a more prevalent illness than once thought. Initial estimates placed the prevalence at 1 in 100,000 newborns but it is now believed to be closer to 1 in 40,000 newborns. Primary Immunodeficiencies as a whole are more common than one may think and if you or a loved one know someone with a primary immunodeficiency please visit: https://primaryimmune.org . Carol Ann Demaret, David’s mom, is a true hero–continuously raising awareness and aiding in the care of primary immunodeficiency. Today, the legacy lives on as the Texas Children’s Hospital announced the building of the David Clinic in 2014. David Elementary School also holds a David’s Dream Run where proceeds go to the David Center and its research.

 


References

(1) The Boy in the Bubble | Retro Report | The New York Times
(2) https://primaryimmune.org/living-pi-explaining-pi-others/story-david
(3) https://www.cdc.gov/mmwr/preview/mmwrhtml/mm5922a3.htm
(4) https://primaryimmune.org/news/all-50-states-now-screening-newborns-severe-combined-immunodeficiency-scid
(5) https://www.texaschildrens.org/about-us/news/releases/texas-childrens-hospital-announces-development-david-clinic-pediatric
(6) http://scidvesta.weebly.com/scid-overview.html

 

 

 

 

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