Why should I test my child for Severe Combined Immune
Deficiency Syndrome (SCIDS)?
SCIDS is a genetic mutation that(not needed) where the T-cells and/or B-cells (What are
these) do not work properly. It doesn’t show up immediately, and there aren’t any symptoms. It
can affect males and females in varying affects depending on what type you have, for example
my family has X-Linked Recessive SCIDS and just to note I will only be focusing on this version of
SCIDS.
When my brother was born, he was a normal baby boy, or so what everyone thought.
My parents had him circumcised, my mom breast fed him until around 10 months, had his
vaccinations and he had contracted illnesses but gotten over(recovered from) each of them.
Around 13 months he contracted another illness but for some reason wasn’t (progressing?)
getting over it. My parents took him to the doctor’s office and they told my parents he was fine;
it was just a (common) cold and gave him some medication to help his body fight the infection.
My parents took(brought) him home,(however) the next day they rushed (him)to the
pediatrician because he wasn’t showing any signs of(making headway, progressing) getting
better. The pediatrician sent(directed or instructed) him and my parents to Primary Children’s
Hospital to get tests done and have a more thorough check done. After about an hour the
doctors had suspicions that it was SCIDS but they didn’t know until the tests came in a couple of
days later. There are 9 different types of SCIDS, one being X-Linked Recessive, which my brother
had. It is passes(passed) from mother to child; a mother who has this version has a 50/50
chance of giving it to her offspring and a ¼ chance of giving it to a child who will be affected
directly by this genetic mutation. About(on average) 40 to 100 babies each year in the United
States are born with a variation of SCIDS (Associated Press).
When the doctors found out(discovered) they
(immediately)began searching the Bone Marrow Donors List
for a match, but for the best chances of finding a match they
tested my sisters. A bone marrow transplant is where they
take the blood from the pelvic bone, purify it, and then inject
it into the recipient. My older sister who also has SCIDS was a
match for my brother. My family was then transported to
UCLA hospital to begin the bone marrow transplant. Once the bone marrow transplant was
complete they transported my dad and sister back to Utah while my mom and brother stayed at
UCLA. But both hospitals forgot about a key part of the treatment, which was chemo therapy to
eradicate what immune system he had. During this time he had a small graft vs. host reaction
which was controlled by medications. A graft vs. host is when the graft realizes that it(what is
it?) isn’t in its body, so the donor’s body, and it begins to attack the host, or the recipient’s body.
When he was capable(of being) to be transported back to Primary Children's Hospital at the end
of September- early October, we had to stay at the hospital because the doctors needed to
observe him.
We brought him home after two weeks. While home he developed upper respiratory
complications which put him back into the hospital. Then he came back home on October 31,
1989, he received an overdose of Acyclovir (by IV). November 1st to the 4th, he received an
overdose of Cyclosporine (by mouth). Then on November 5th he was readmitted to the
hospital, because he was lethargic and developing seizures. The doctor told us after 14 days he
should start to respond to us, which he never did. As days passed the seizures progressively
worsened and his bone marrow transplant began to fail. At the end of December beginning of
January he developed blisters that encompassed his whole body. At this point they began
giving him an investigational drug to boost his immune system. Towards the end of January the
doctors found out he had RSV (explain RSV a bit), which is extremely deadly(Why is it so
deadly?) for any child. In March, his skin was healing. The doctor was puzzled and wanted to do
more blood tests, but she wasn't revealing the reason why she wanted these blood tests. A
couple of months later, my mom refused blood tests until the doctor gave us the reasons why
they were needed. The doctor became extremely angry and revealed my brother was making
his own immune system not the donors immune system(What does this mean for him?). As
months passed... As each seizure happened it took something from him until he was left in a
vegetative state. All that he was left with was his intense stare that let you know he was still
there. Then in the early morning on January 16, 1994 he passed away, surpassing the doctor’s
expected expirations several times. Treatment for SCIDS was possible back in the 80’s but with
late detection coupled with the mistakes during treatment led to my brother’s demise.
Earlier this year, my sister, the same one who gave her bone marrow to my brother was
expecting a baby. Our family was extremely happy and because of my brother, my family
already knew about SCIDS. My sister had regular visits with her doctor and during one of her
ultrasounds they found out the baby was a boy. At that point she set up an amniocentesis test,
this is where they take a long needle and insert it into the mother’s stomach to pull out some
amniotic fluid. After a couple of weeks she had the amniocentesis test performed. Then a couple
of more weeks passed and they found out he might have SCIDS, the test wasn’t conclusive
because there was a small chance that it had some of the mother’s blood inside of it. But at this
point it was too late to perform another test because it(delete the word “it”) there was a
possibility they could induce her into giving birth. So we (were forced) waited a couple of
months until he was born.
After he was born they confirmed he had SCIDS through a blood test, he was then
transferred from the University of Utah Hospital to Primary Children’s Hospital. Once in Primary
he was put into the Bone Marrow Transplant unit or BMT unit. This area was specialized for
people who had compromised immune systems either from Cancer to SCIDS. Each individual
patient had their own room, which the air was pressurized and filtered so that no bacteria
and/or viruses would be floating around in the air. In fact the air inside each room circulates ten
times every minute and you can’t have more than four people in a room for long periods of time
because it lowers the efficiency of the air purifier.
My nephew had to grow(get a bit older) a little bit more before he could begin
treatment but during this time his doctors had to search the databases for matches. Now (a
days)they have two ways of curing SCIDS, one way is the bone marrow transplant and the other
way is cord blood transplant. A bone marrow transplant is what my brother had, where they
took blood from my sister’s pelvic bone and injected it into my brother. Cord blood transplant is
where they take the blood from the afterbirth from another matching baby, filter it and freeze it
waiting for people who don’t have the option of a bone marrow transplant. A bone marrow
transplant has cells that vary in age, where a cord blood transplant has only immature cells. To
connect information, when a mother breast feeds her child, she gives some of her immune
system until the child. This is why my brother was able to live so long without treatment. The
doctors found out that there wasn’t any option for a bone marrow transplant, which would
have caused him a worse graft vs. host because of the varying ages
in the cells, so they began to search for cord blood. At this point
they were ready for my nephew to get his central line in. A central
line is a tube basically that goes into your chest and taps into one of
the major arteries allowing the possibility of giving chemo therapy.
A week or two passed and they began getting everything
planned out for the rest of his treatment. The doctors strolled in a
week before they were going to begin treatment. They had planned every hour(for) what was
going to happen(;) what medication, the amount of time, and how it was going to be given. His
chemo therapy was going to last for six days and on the seventh he was going to have a rest
day where he could recuperate a little. Then on day 0 or BMT birthday he was going to be
getting his cord blood transplant. The doctors said that his count of white blood cells will
gradually rise and once it is consistently above 500 he will be released to go home.
On the first week after the cord blood transplant he didn’t want to eat anymore because
of the sores that developed inside the esophagus because(due to) of the chemo therapy. We
had to wait about another week for the sores to clear, during this time his mom had to learn
how to sink an N.G. tube. An N.G. tube is a tube that goes inside a nostril down to the stomach
to provide nutrients and possibly medications. A couple of days later his sores seemed to be
over(healed) with and his white blood cell count were climbing slowly. By the end of August his
counts were consecutively above 500. Then on October 11 th he was released to go home. Now
every week we have to go back to Primary Children’s Hospital for a checkup.
My brother and nephew are perfect examples of why this genetic mutation needs to be
added to the tests when a baby is first born. If it was added my brother would have had a better
chance of surviving SCIDS and possibly be here today. The test is inexpensive, costing about $50
depending on which state you live in (Duke Medicine News and Communications). Infants at
the age of 3.5 months have 97% chance of survival where after 3.5 months it drops to 69%
chance of survival (Duke Medicine News and Communications). We have the technology today
to cure SCIDS and we should try(be sure) to use it.
To show the difference between my brother and nephew I have created graphics that show the
major events of what happened.
My brother’s major events:
Late
Detection
Overdose
2
MAJOR
graft vs
host
search for
match
Overdose
1
seizures
leading to
vegitative
state
Bone
marrow
transplant
minor
graft vs.
host
Death
My nephew’s major events:
Early
detection
Sores
develop in
esophagus
N.G. Tube
Starilized
room
Cord Blood
Transplant
He Comes
home
Central
Line
Chemo
Therapy
He is still
alive
Bibliography
Associated Press. Gene Therapy May Cure Buble Boy Disease. 28 January 2009. 17 October 2011
<http://www.msnbc.msn.com/id/28896936/>.
Duke Medicine News and Communications. Newborn Testing for Immune Disorders Could Save Lives. 3
November 2004. 7 December 2011
<http://www.dukehealth.org/health_library/news/7547?search_highlight=newborn%2520testin
g>.
Mayo Clinic. Bone Marrow Biopsy. 2 August 2011. 7 December 2011
<http://www.mayoclinic.com/health/medical/IM01819>.
Mitosis and Meiosis. n.d. 12 September 2011 <http://yhs-raines.wikispaces.com/Mitosis+and+meiosis>.