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Fri, May 31 6:33pm · Monthly Mission: Why did you become a Champion? in Mayo Clinic Champions

I'm so very sorry for your sister & brother-in-law and their son's death after only a few days of life. The accidental radiation exposure is truly a tragedy. You commented they had their son for only a few days "as well". I wanted to clarify, my son Travis was 4 years old, not 4 days old, when he died of the rare genetic birth defect ICA. Many children with ICA die before their 1st birthday, so it's something of a miracle I was able to be his mother for 4 years. Loss of a child forever changes you. Child death at any age is absolutely traumatic, it is outside of the natural order of things. Even with faith and hope, it is a challenge.

Fri, May 31 4:18pm · Monthly Mission: Why did you become a Champion? in Mayo Clinic Champions

Hi nurseheadakes, thank you for your kind words about our work at T.E.A.M. 4 Travis. We're getting involved in the rare disease community and learning more about so many trials and tribulations as people search for answers to their rare disease. Unfortunately, we had no idea Travis was born without a functioning spleen, this was only revealed after his death, during an autopsy. So, the work we do is in Travis' memory, creating his legacy by hopefully calling awareness to ICA and contributing to research and development of a diagnostic, so that other families don't have to experience death of a child from this silent killer.

Fri, May 31 4:08pm · Monthly Mission: Why did you become a Champion? in Mayo Clinic Champions

Thank you Tony, for the warm welcome! Yes, Lee was a great speaker, I'm sure he was a great manager too. I look forward to being part of this community and continuing to advocate for Isolated Congenital Asplenia, fundraising for research and treatment as well as raising awareness!

Fri, May 31 3:52pm · Isolated Congenital Asplenia in About Kids & Teens

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

Wed, May 29 6:12pm · Monthly Mission: Why did you become a Champion? in Mayo Clinic Champions

I become a Mayo Clinic Champion after hearing Mayo Clinic Social Media Network Director Lee Aase speak at a Rare Disease event. I'm not a patient, but my four-year-old son died of the undiagnosed and rare genetic birth defect Isolated Congenital Asplenia (he was born without a functioning spleen, which left him with a compromised immune system). As President of the newly formed 501(c)(3) T.E.A.M. 4 Travis (Together Ending Asplenia Mortality), I am grateful to be part of an amazing medical organization like the Mayo Clinic. Through membership in their Social Media Network, we hope to bring awareness of this rare disease to many people, seeking others who may be impacted by ICA and furthering medical research through fundraising and advocacy. I look forward to engaging with patients, providers and other non-profit leaders who use the Mayo Clinic Connect and Mayo Clinic Social Media Network.

Wed, May 22 1:00pm · Isolated Congenital Asplenia in About Kids & Teens

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.