Who this will help

Hello, My name is Jeremiah Brensinger, and I am trying to help raise money for treatment and care for my niece, Willow. All the proceeds from this will go to pay for expenses that my brother John and his wife Arielle have already and are yet to incur. They have set up an account to help Willow, in her journey to finding a cure for her rare genetic disorder (PHOX2B). I hope that we all can pull together to help them offset some expenses that this road has and undoubtedly will bring.

Why I'm fundraising

Willow is my 2-year-old niece who was recently diagnosed with PHOX2B. It is a rare genetic mutation that causes Congenital Central Hypoventilation Syndrome (CCHS) which affects the autonomic nervous system. In simple terms: it causes her to become severely hypoxic (low oxygen levels) which then triggers seizures. Willow now requires oxygen at night while she is sleeping and oxygen saturation monitoring due to her risk for respiratory failure during sleep which can be fatal. This will be a lifelong journey for her. Due to this specific gene disorder her predisposition to cancer increases to 40-50%. She will require regular screenings every 3 months for cancer, specifically neuroblastomas along the neural crest.

In October 2022, while at a friend’s house Willow became upset and began to cry like all children do, only unlike most children, when her crying stopped she began to turn blue and she stopped breathing. 911 was called and her parents began to perform CPR on their motionless baby. Unsure of what was happening, she was transported to Children’s ER in Milwaukee, WI. They said it was a simple breath holding spell and were told that she would grow out of them. Knowing in their gut that something else was wrong, they were not comfortable writing this off as a simple breath holding spell and continued to seek more information to try and understand what else it could have been.

Ultimately, Arielle had to stop working to care for her as the episodes continued to happen, becoming more severe in both length of time and physical movements. The episodes would last up to 8 minutes. They would watch her day and night hoping to catch her having an episode so they could record it, in order to try and find out what was truly wrong. The episodes would start with her becoming upset or getting hurt like any normal toddler. Willow would then become different shades of blue, she would jerk, her mouth would clench, her body would stiffen, and she might flail, each time was a little different but they followed the same pattern. She would have minimal breaths and it would look like she was holding her breath until she would finally gasp for air. They were terrified for her each time, feeling helpless that they couldn't find out what was causing this. Many of the episodes 911 was dispatched because they didn’t know what else to do. Typically children recover from breath holding spells within a few minutes. It would take Willow almost two-hours to recover. The EMT's helped them as much as they could, and acknowledged and validated their concern.

As they continued to record each event, Willow's primary doctor pushed for her to be seen by different clinics and specialists. They ruled out heart problems quickly after she had a 30-day Holter monitor, which caught one of her episodes. They were then instructed to continue with neurology, and she was given Keppra to hopefully control the seizure-like episodes as they continued with different tests to verify seizures. After the MRI, long-term, and short-term EEGs all came back negative, they were still worried the episodes would continue to happen. All they could do for her was to continue to increase her dose of Keppra to hopefully manage them. Willow then went to pulmonology and a sleep study was ordered. During the sleep study a breakthrough was made! During her sleep she would become apneic and her oxygen levels would drop. Because of this finding, the doctor ordered a rare gene test for PHOX2B. When the gene test came back positive it was shocking as they were not prepared for a positive result due to the rarity of this genetic mutation. They then realized that the seizure-like episodes were a form of cyanotic seizures resulting from hypoxia, a lack of oxygen. They recently received her diagnosis of CCHS as of 11/17/2023. In all; her diagnosis required at least a dozen different specialists, blood tests, body imaging, brain imaging, hospital stays, and many 911 calls. It was a stressful road but they are relieved that they never stopped searching for answers. Even if the answer is as scary as CCHS. John and Ari don’t exactly know what is next for Willow besides monitoring and regular cancer screenings. They are just prepared to do whatever needs to be done for her to live a long and healthy life.

The impact of your support

From John and Ari:

This GoFundMe is for Willow to help cover her medical care expenses; past, present, and future. All funds donated will be used for her care, oxygen needs, and medical support. Specifically, we are looking into purchasing oxygen equipment, so we will always be able to provide her oxygen and monitor her oxygen levels. Due to this being a rare disease we are also prepared to travel and see other specialists in other states and potentially other countries. We don’t know yet how this will affect her life in the future, both short and long term. We want to be able to give her all the support and care we possibly can. If you know me this has been very hard on her and on our family. Thank you in advance, any help is greatly appreciated in this difficult time.