Isolated Congenital Asplenia

Posted by Allison Bones @team4travis, Wed, May 22 1:00pm

I'm new to Connect. Isolated Congenital Asplenia (ICA) is the disease or genetic birth defect I'd like to talk about. It's a rare disease that almost no one has heard about.
We started T.E.A.M. 4 Travis (Together Ending Asplenia Mortality) after my 4YO son Travis died suddenly & unexpectedly hours after first contracting a fever in August 2018. It was only revealed during autopsy that Travis had ICA, or he was born without a functioning spleen. Without his spleen, Travis had a compromised immune system. He was unable to fight the bacterial infection he contracted. I never knew this until it was too late.
ICA is a primary immunodeficiency. With our 501(c)(3) foundation, our goals include fundraising for medical research, providing awareness and medical education and contributing to the development of a screening and treatment plan. Please reach out to me if you've been impacted by ICA or want to learn more.

Welcome to Connect, @team4travis, I count myself among those who have not heard about Isolated Congenital Asplenia. Are there warning signs of ICA? How might it be detected?

REPLY

Hi Ethan, thanks for your inquiry. I offer a rather lengthy answer, apologies in advance if this is too much information. I often wish I didn't know as much about ICA as I do, but since Travis died, I have learned so much about it.

There are no warning signs of ICA, other than a rapid onset of a high fever. In Travis' case, 3 different medical professionals dismissed his high fever as the flu. Often times, it is too late to do anything for the child, as the bacterial infection has already invaded the lymphatic system, traveling to the bloodstream and causing septicemia. Death follows in a matter of hours.

Currently, there is no prenatal diagnostic to look for the presence or absence of a functioning spleen. A friend who is a nurse practitioner in an OB's office polled the doctors in her practice about ultrasound identification, their reply was "We just don't look for the spleen, it's barely larger than a thumbnail."

ICA could also possibly be detected through prenatal genetic screening, as it is linked to a mutation in the Nkx-2.5 gene, as discovered by Dr. Licia Selleri and Dr. Jean-Laurent Casanova (both of whom serve on T.E.A.M. 4 Travis' Scientific Advisory Board).

Dr. Selleri wrote the following for our website:
In newborns and young children, both complete lack of the spleen (spleen agenesis or asplenia) and the presence of an atrophic spleen remnant (hyposplenia) result in a high risk for life-threatening bacterial infections by encapsulated bacteria, including pneumococcus pneumoniae and haemophilus influenzae. Among asplenic conditions, Isolated Congenital Asplenia (ICA) is the only known birth defect involving a lymphoid organ without additional developmental anomalies. ICA is an under-diagnosed primary immunodeficiency, that is often discovered only at autopsy, and is estimated to affect at least 1 in 600,000 births.

It is because of this that T.E.A.M. 4 Travis is working to fundraise for ongoing research and raise awareness about ICA. It is our contention that if the spleen is such a critical component of a young child's immune, WHY isn't its existence confirmed during prenatal ultrasounds? Also, there is a possibility ICA could be detected through a Newborn Screening blood test, as without a spleen, aged & damaged red blood cells are not filtered as quickly and efficiently as they would be in a child with a functioning spleen. Other methods of detection could include an ultrasound or CT after the child is born, especially if the blood test results show concern.

If ICA could be detected in the prenatal period or shortly after birth, the condition could be managed with antibiotic prophylaxis and diligent monitoring by the child's parents (including wearing a medic-alert type device). There are also some thoughts about the use of gamma globulin injections to boost immunity.

If you'd like further info, please let me know. I hope I haven't bored you with my reply.

Best regards,
Allison

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