Meet Luisa Lee Nicol! Luisa has a very rare disease called Central Congenital Hypoventilation Syndrome (CCHS). CCHS affects around 1,200 people worldwide, and there is currently no cure. However, it is not fatal or degenerative and with proper treatment it is a livable condition.
The most common treatment for babies with CCHS is a tracheostomy and mechanical ventilation. All CCHS patients share a lack of ability to breathe adequately, especially while sleeping, so they all require some form of mechanical ventilation. For patients with CCHS, the respiratory center of the brain cannot detect levels of CO2 in the blood, causing a poor respiratory drive which can lead to many problems if not treated. The disease is caused by one of a variety of mutations of the PHOX2B gene, and the only way to definitively diagnose it is to conduct a genetic test. The PHOX2B gene is associated with the autonomic nervous system, and can affect many involuntary functions including bowel function, vision and heart rhythm.
When Luisa was born, she immediately started showing signs of CCHS as she suffered multiple clusters of severe apnea, but the doctors could not figure out what was causing it. Because CCHS is so rare it is often the last suspected cause of persistent infant apnea. Luisa ended up being flown by the Kangaroo Crew to Texas Children’s Hospital two weeks after her birth for more tests.
At Texas Children’s Hospital, doctors performed every possible test to find out what
could be causing Luisa’s severe apnea. Every test came back normal or negative so we
were really getting no answers! Luisa spent 5 weeks in the NICU before we received a
diagnosis, and she was on mask ventilation the whole time. Once we received the
diagnosis of CCHS the medical team recommended a tracheostomy, which would mean Luisa could finally stop wearing a mask for ventilation. The tracheostomy would allow us to finally see our precious daughter’s face without a mask! It would also mean that Luisa could begin taking a bottle and doing other developmentally appropriate things for a baby. In addition, the tracheostomy would provide a much more stable airway, ensuring Luisa would receive proper ventilation.
Luisa had the tracheostomy surgery when she was about 6 weeks old. Since she had
never been able to bottle feed due to mask ventilation, Luisa also had a G-Button placed at the same time. While she was recovering over the following weeks, Luisa’s father and I learned as much as we could about tracheostomy care from our team of nurses. We were so ready to bring our baby girl home!
On October 24, 2019 Luisa and I finally traveled home from Houston to Portland in the longest ambulance ride ever! It was a bit scary for the first couple of months at home. However, with support from my parents, the help of great home health nurses and Luisa’s awesome pulmonologist we have adjusted very well, and she is doing AMAZING. She no longer has the G-Button, and she now only requires mechanical ventilation while she is sleeping. Luisa is also building up her tolerance wearing a trach cap while she is awake. We are celebrating her 1st birthday this month and she very happy and healthy.
If you would like to know more about Central Congenital Hypoventilation Syndrome you can visit our wonderful family network at www.cchsnetwork.org. The CCHS family network has provided us with so much support and it is a really fantastic organization.
