Fixing a Broken System
In the build up to the Festival of Genomics San Diego, Festival Director, Laura Rae, caught up with Nicole Russell.
Nicole is a wife and mother of 3 children impacted by rare inherited/life threatening disorders. Nicole shares her family’s journey and the unfortunate complications in the state newborn screening programs, the impact it has taken on her family, and how her family has stood up to ensure changes are implemented in order to protect other children.
FLG: What made you devote yourself to patient advocacy?
NR: I am a mum of 3 small children (all with life-threatening illnesses). Our lives changed in 2011 when we almost lost our son Melbourne to a rare disorder- Propionic Acidemia (PA) which is one of the 44 diseases newborns are tested for in the state of WI.
The initial shock of an illness was quickly surmounted when I learned that his illness should have been identified through a state mandated program called Newborn Screening, but it wasn’t and he was missed which led to a metabolic stroke at 18 months old and damage to his brain.
Our first born child Melbourne was born in 2010 a seemingly healthy baby. Initial Newborn Screen indicated a “possible abnormal result”. We were assured that these things happen all the time and eventually the retest results were reported to us as “normal”. Melbourne met all early milestones, he was in the 90th percentile for weight and his paediatrician expected him to be an “early walker”. Around 9 months old I decided to stop breastfeeding and that is when the trouble began.
Over the course of next 9 months, Melbourne changed. He became uninterested in food, he would go almost a week without a bowel movement, and he would projectile vomit (sometimes multiple times a day). His body weight went from the 90th percentile down to the 5th. He lost interest in things he used to like and was no longer our happy baby. We thought we were doing everything we could to help him. We called his doctor over 20 times, various clinic visits, multiple GI specialist visits, labs, x-rays, ER visits. But none of these things was helping him, the diagnosis was constipation and/or a potential virus.
At 18 months old Melbourne woke one morning without movement on the right side of his body – later determined he experienced a metabolic stroke.
Newborn screening helped save his life, but only through his sister Elise which was born days before his metabolic stroke. Elise is our angel sent to us to save her brother. Her “abnormal” results helped the genetic doctors at Children’s Hospital of Wisconsin finally put the puzzle pieces together for Melbourne. We now know that early detection, hospital due diligence, and parent awareness would have changed the outcomes for Melbourne.
FLG: At the Festival of Genomics, you’re talking about how the current system of screening is failing. You’ve gone through state newborn screening three times now, and it clearly failed you with your son. While human error is inevitably going to cause some of these failings, sometimes it’s the screening policy itself that fails families. As a parent who has gone through this process several times, what improvements to the process and feedback of results would you like to see?
NR: Newborn screening is set up to protect the tiniest most precious people, babies do not have a voice, and they cannot tell us when something is wrong. Screens are meant to only screen patients, not diagnose. However, when and if there are concerns diagnostic testing should be considered, especially given the need to act quickly.
I envision a partnership between medical providers, laboratories, and parents. Each of us have a common interest in protecting babies and each of us have a critical and distinct role:
• Medical Providers – Medical Providers are educated on best practices and given their highly skilled training are aware of potential and harmful issues.
• Laboratories – Laboratories use qualified metadata to quantify results in order to catch potential and harmful issues.
• Parents – Parents are tricky. Aside from light prenatal reading, many first time parents have little to no exposure or knowledge of infants. They follow the recommendations of their medical providers, and typically leverage family for basic guidance.
I think of this example as a set of gears working together, if one of the gears is not operating properly by sharing information with the other key components the systems will fail, as with my son Melbourne. The fact that each state controls their own cut-off values, tools to measure, reporting processes are broken and unreliable leaving confusion and room for error.
Melbourne would have been caught, diagnosed, and treated early in some states, but unfortunately living in the state of WI he was not.
Although improvements are in progress there is still room more:
• The system is broken – States are silo’ d and independently manage reporting of results, tracking, and there is no single source of truth in metadata results & missed cases.
• The tools used to measure are inconsistent and unreliable – In the state of Wisconsin Melbourne missed the cut off for a “definite abnormal” by two ten-thousandths of a point 0.1998380. The reason is that the state measured 6 markers and if this marker of 0.1998380 was rounded to 0.20 then all 6 of his markers would have been “abnormal “ not “normal”. The values would have triggered an alarm and he would have been caught.
• The measurement cut-offs are not standardised – Every state sets their own values. There is a fine line between false negatives and false positives. Doctors may say that there is unnecessary worry behind false positives, but I say what about my son Melbourne and his false negative result. A child like Melbourne would have been picked up and eventually diagnosed much earlier.
• Poor communication between Medical Providers & Parents – When babies are born most parents are aware that there are various tests in the hospital and required tests before children are released. In our situation, newborn screening tests take place on or around the 2nd day of life. I was only a couple days as a new mother preparing to leave the hospital with my first baby, without a user manual, and pumped full of painkillers from my surgery. What I can recall from all 3 of my experiences were discussion based explanations and no offered supporting literature on newborn screening for the 44 disorders that babies test for via heel pricks & dabs of blood on a sample card. The nurse simply explained the test was mandatory (unless for religious reasons you may decline) for all babies and the doctor will inform you of the results in a few days.
As you know, our story ended badly but where the lack of communication led the gears to break was in the reporting of the test results. Melbourne’s second repeat test from the WI State Laboratory indicated a “normal” result because of a series of repeat tests and an average. There was a note on the paper which indicated that his levels of C3/C2 were still elevated (nearly doubled) and it shows normal ranges to compare. It also explained that there were expert genetics medical professionals available to speak with if there were and questions.
I received a call on April 16th (Melbourne was exactly 2 weeks old) from the paediatrician telling us not to worry his results were “normal”. The Parent and Medical Provider communication gears broke that evening when Melbourne’s newborn screening paperwork went into his file and was not reviewed in detail, followed up on, consulted with genetics professionals to explain continued elevated ratios, or even discussed with the people that make decisions for their child – his parents.
Parents are the decision makers, it is their God given right to protect their children and to always be aware. I have heard over the years that Medical Professionals are afraid to inadvertently scare parents. How awful would that be to frighten a parent for a few hours, a few days, maybe a week? How much more frightening it is for a child to go undiagnosed for 9 months become brain damaged and almost lose their life.
When Melbourne was diagnosed we asked our doctor what had happened and why it took so long to protect him. The response from our doctor was “there was a failure in the system”. I remember him sharing those words with me that day and I will always remember the way he said it. I did not ask any additional questions because I knew it would be complicated.
In an effort to obtain answers I reached out to the Wisconsin State Laboratory and after many attempts to reach the Director of Hygiene I was finally invited to come to the lab, meet the professionals, view the equipment, and discuss the process. In addition, the fantastic efforts of the WI Newborn Screening Committee brought forth actions to update and lower the states cut off ratios, implement new technology, and revised processes to prevent another borderline child from being missed by screening.
These new measures would have detected Melbourne sooner and would have prompted an early treatment program as his sister Elise. Melbourne likely would have ended up like his sister – living a life without brain damage, reading books, singing, dancing, and functioning without a full-time aide.
FLG: Families living with a rare inherited disorder often cite a worrying lack of support and resources at the start of their journey. What were your experiences in your own case, and what would you like to see made available to families as standard?
NR: Unfortunately, there continues to be a lack of support. When our children were first diagnosed we were told not to turn to the internet for information because it was too frightening. And of course, the first thing we did was turn to Google.
With a rare disease like Propionic Acidemia there are 1:100,000 reported in the US many of which are not survivors today and the average life span is <7 years old. Parents do not know who to speak with, where to turn and the more questions asked of medical providers it becomes more grim and frightening.
Hope is very powerful – I have taken an approach to finding out as much as I can and constantly challenging our medical providers for their guidance. I recently attending a conference on Propionic Acidemia and had the pleasure of having lunch with one of the speakers – a well-known Geneticist specialising in PA and he shared with me how dangerous it is for parents to discuss their children online. Although I agree in some sense that without proper due diligence this can be a dangerous practice. However, I do not think that anyone would disagree that education is important, especially with a very rare disorder where no one has answers, studies are few and far between, treatments are archaic and being challenged, cures are unknown, and the mortality rate is extremely high.
Parents like me are no longer wear just a “mom hat”. We have suddenly fallen into a stretch role consisting of: medical care, diet, research, therapy, medical bill auditors, master scheduling/planning, and advocating for our children which includes questioning everything. We speak to other parent advocates to stay connected with others that are experiencing similar situations. Selfishly this is a bit therapeutic and it allows the parent to feel like they are contributing to potential missing pieces of the puzzle. With rare disorders there are so many unknowns and given the current state and lack of real research this is the next best thing.
If parents educate themselves through various channels and with proper communication and guidance from their medical providers the gears still work.
FLG: What are you hoping to get out of the Festival of Genomics? (What does having the opportunity to talk to, and engage with researchers, clinicians, and drug developers mean to you? Is there anything that this kind of platform will enable you to do in particular?)
NR: There are two main goals to bring awareness:
1. Fix a Broken System: Newborn Screening is broken, it is inconsistent and unreliable. We need standardization & firm processes that support education & oversight.
2. Focus on Rare Disorders: As you may know, often times the rare disorders are overlooked by this audience – Either they are too complicated, there is not enough data to support efforts, there is not enough funding, whatever the reason it is troublesome and rare patients are set aside. Parents like myself fight everyday demons and thoughts that our children will not out live us. Please help us focus on rare.
Nicole will take part in the discussion session ‘How much power should patients hold?’, and speak about her own experiences in her presentation ‘Failure in the system – how state newborn screening impact families’ on June 27th, at the Festival of Genomics San Diego.