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HEALTH SENTINEL: Child's Trisomy 18 (Edwards Syndrome) Condition Spurs Mom's Invention

This early prototype of a hand-held device, developed by Trine University assistant professor Melanie Watson, counts blood cells from just a drop of blood. The device connects to a cell phone and sends results immediately to health care providers. The patent is pending, and an eighth version is being 3-D printed. (By Jennifer Boen for News-Sentinel.Com)

Melanie Watson, Ph.D. (Courtesy photo)

Claire Juliette Watson-Ray, 5 1/2, has the genetic disorder trisomy 18. When she was 14 months old, she was diagnosed with liver cancer. Frequent trips to the hospital for Claire to have blood tests spurred her biomedical engineer mother, Melanie Watson, left, a Trine University assistant professor, to develop a portable blood testing device that sends results of multiple blood tests in real time to doctors. (By Jennifer Boen for News-Sentinel.Com) This early prototype of a hand-held device, developed by Trine University assistant professor Melanie Watson, counts blood cells from just a drop of blood. The device connects to a cell phone and sends results immediately to health care providers. The patent is pending, and an eighth version is being 3-D printed. (By Jennifer Boen for News-Sentinel.Com) Melanie Watson, Ph.D. (Courtesy photo)

Biomedical engineer Melanie Watson had plenty to grapple with when prenatal tests during her second trimester revealed her daughter, the second-born of two, had a very serious genetic condition called trisomy 18. In this condition, instead of normal two chromosomes on the 18th chromosomal pair, there are three.

Half of all babies born with trisomy 18, or Edwards syndrome, die within the first week, with many others stillborn. Only 5 percent to 10 percent live beyond age 1.

"She is my miracle baby," Watson said of Claire Juliette Watson-Ray, now 5½. It's important to get the one-half in there "because every day counts," said the Trine University assistant professor of biomedical engineering, who earned her undergraduate and doctorate degrees from Louisiana Tech.

Watson has fought every day for her fragile daughter's life, not accepting the no-hope pronouncement given by doctors at the Texas hospital where Claire was born and not giving up when Claire, at age 14 months, was diagnosed with liver cancer.

SEE MORE IN THE HEALTH SENTINEL SERIES FROM WRITER JENNIFER L. BOEN

That tenacity and resolve to give Claire the highest quality of life possible is what also led Watson on a journey to seek an innovative solution to quickly and easily perform routine blood tests so Claire — and anyone with a health condition that requires frequent blood testing – can do so wherever and whenever they want, with results sent via a cell phone to the doctor.

The eighth version of the hand-held, blood-testing device prototype is now being 3-D printed, and Watson is in the process of patenting the invention. It is the culmination of more than five years of research and development, and Watson's entrepreneurial endeavors through her company Blaire Biomedical have drawn high praise from regional and state funders. She was recently named one of two first awardees of support through Indiana's Elevate Ventures' new Community Ideation Fund.

The fund, created in 2018, enables ideation-stage high-potential companies to move closer to a specific, measurable technology or product development milestones through an investment between $5,000 and $20,000. Eligible applicants include Indiana-based companies with headquarters in communities under a partnership with Elevate Ventures, and with no more than $50,000 in trailing revenue over the past 12-month period.

Elevate Ventures, a venture development organization based in Indianapolis, Ind., provides entrepreneurs with the expertise and resources needed to transform ideas into profit-making companies. The Community Ideation Fund $17,500 convertible note will help Watson move ahead with final development of the blood-testing device by hiring a part-time design engineer.

"We need to improve the optics (in the device) in order to increase the accuracy of blood tests," Watson said, noting this funding and a recent $1,000 micro-grant from the Elevate Northeast Indiana Farnsworth Fund, plus additional funding she is seeking through other regional and state sources is crucial. "It is essential for up-and-coming entrepreneurs to get into the seed round to draw venture capitalists and angel investors."

Already available is a hand-held blood glucose testing device that operates similarly through a phone app, but Watson said there is no other such device on the market that can perform multiple blood tests.

"There has to be a better way"

The adage, "necessity is the mother of invention," rings true in Watson's story of the development of the device. Claire was admitted to a hospice facility after staff at the hospital where she was born said Claire had no future. The hospice caregivers taught Watson how to tend to Claire's specialized needs. The baby stabilized and two weeks later Watson took her home.

When Watson couldn't find a local surgeon who was willing to operate on Claire, she took her to Texas Children's Hospital in Houston. Claire's heart defects were repaired, and she began thriving. Then the terrible discovery of two liver tumors was made a year later. Surgery was successful to remove the golf-ball sized tumors, and Claire began chemotherapy. It was a more than a four-hour drive from their home in Longview, Texas, to Houston for the frequent blood tests Claire needed between chemo treatments and after.

"I thought, 'There has to be a better way. I'm a biomedical engineer. I've got to figure this out,'" Watson recalled. And she did, putting more than $5,000 of her own money in research and development.

In 2015, she left Texas to take a teaching position at Trine. She enlisted the help of students, assigning work on the device as part of their senior design project.

"The students accomplished a lot," Watson said, also crediting Trine for financial support toward project supplies. "We want to empower patients with hand-held medical technology," Watson said. "This is so patient-centric."

Dr. Michael Mirro, Elevate Northeast Indiana board member and senior vice president and chief academic research officer of Parkview Mirro Center for Research and Innovation, concurs. In a press statement following Watson's Farnsworth Fund award, he said, "Her solution negates the need for patients to go to the lab and allows them to take control of the timing of testing, which is perfect for patients with chronic conditions and limited mobility."

Jennifer L. Boen is a freelance writer who writes about the health field. This column is the personal opinion of the writer and does not necessarily reflect the views or opinion of News-Sentinel.Com.

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Trisomy 18: 'To Luca Joe – Thank You For Choosing Us To Be Your Parents'

John, Liz, John Leonard and Luca Joe at Ann & Robert H Lurie Children's Hospital of Chicago, where Luca Joe lived his life of just five months

Before telling you about Luca Joe, I want to bring you back a little further to January 26th, 2022, when John Leonard walked down the stairs with his mother and handed me a pregnancy test that showed as positive.

Two years earlier, we received the gift of our first born and that was amazing, but to then receive the news that we were expecting a new addition to our family was truly a surprise. The thought of us being able to bring another healthy and happy life into the world and provide a sibling for John Leonard was all we had dreamed of.

On St Patrick's Day, 2022, with Liz now 12 weeks pregnant, we received the results of a diagnostic test that showed our baby had Trisomy 18. Neither Liz nor I had ever heard of Trisomy 18, so we frantically searched the internet which of course pulled up all the worst-case scenarios and images. After processing this difficult news and having some time to reflect together, we made a commitment to give our unborn child every opportunity to grow and develop as best he could and to allow ourselves to be taken on a journey where the destination, length and conditions of that journey were unknown.

Also known as Edwards Syndrome, Trisomy 18 is a disorder in which babies are born with three copies of chromosome 18 instead of two.

Due to its complexity, we knew the possibility was high our baby would not go full term, but we wanted to see where he would take us. And so the journey began... A journey of hope, fear, frustration, disappointment, laughter, tears and grief but, above all else, love.

On September 15th, 2022 Luca Joe arrived into the world.

Luca Joe.

His birth filled us with tremendous relief and joy, while fear and uncertainty hung in the balance as we wondered how much time he would have with us. Ann & Robert H Lurie Children's Hospital of Chicago is where Luca lived his life and where our family set up our home from home. It is where our hearts were housed and where we gathered, laughed, cried, loved and lived as a family of four for five months. It is where we got to know Luca Joe and watch him reveal his true character and personality.

Throughout Luca's life at Lurie's, we experienced and became part of the phenomenal care, love and support from the exceptional medical professionals who work there.

Luca had extensive complications, a lot of which were known to us prior to his arrival and he was immediately intubated once Liz gave birth to him. Liz got to hold him for a precious couple of minutes before he was whisked off to the NICU ward. Two days later, Luca was transferred from the women's hospital to Lurie Children's for his first of several surgeries. The weeks seemed to roll into one another with good days, following not so good days, but Luca seemed to be steadily making small incremental improvements – every little ounce of weight gain was celebrated as if it was a pound gained.

During this time, we were blessed to be able to get permission for family visits, and Luca Joe got to meet some grandparents and uncles and aunts from Michigan and Ireland.

I'm originally from Abbeyside, which is on the Waterford side of the bridge in Dungarvan, Co Waterford. There's a total of eight in the family, with me being the only one not living in Ireland.

I met Liz in November 2000 in Boston when I was living there and she was visiting for the weekend. She was on a "reconnaissance" mission with her friend to sus out the city and get a feel for whether she would like to make the move from Grand Rapids in Michigan and assume a teaching position. A good friend of mine, Seanie McCarthy, was over visiting at the time also and of course Liz and I ended up meeting each other in a nightclub that weekend.

Our relationship soon started, but then I moved back to Ireland and despite several attempts at a long-distance relationship we ended up going our separate ways with me back in Ireland and Liz moving from Boston to Chicago. We stayed in touch sporadically over the years, until eventually we got our act together at the end of 2017 and with me now being an employee of Northern Trust (an American bank which has offices in Dublin and Limerick), I was able to apply for a transfer over to the Chicago office. I made the move to Chicago at the end of March 2018, and we got married on August 17th.

Eventually, after much patience and faith, we welcomed our son John Leonard into the world on February 19th, 2020.

By the end of 2022, our family of four was looking forward to all being together on Christmas Day in the hospital. The new year, however, brought new challenges for us all, with a failed extubation attempt on December 26th meaning we now had to embrace the reality of Luca Joe having a tracheotomy (an opening surgically created through the neck to allow air to pass to the lungs). Planning meetings took place between ourselves and the medical professionals to inform and provide insight to us about what to expect when Luca Joe would move home, what changes would need to be made to our house, what kind of support we would get from an in-home nurse, what training we would need to undertake in terms of the care and upkeep of his ventilator.

As intimidating and overwhelming as all this was, the good news was Luca Joe would be coming home and we would all be together.

But, at 6am on Monday, February 12th, 2023, everything changed.

I took a call telling us we needed to get to the hospital immediately as CPR was being performed on Luca Joe. Liz's sister Julie arrived to look after John Leonard and we raced downtown to the hospital.

Luca Joe.

I will never forget the scene when we arrived at our son's room; there was a chaplain waiting to meet us. Nurses and doctors were everywhere, some were familiar, some were brand new to us. We were given a brief rundown of the morning's events, but it was made quite clear that the next 24 hours of Luca Joe's life were critical. Phone calls and text messages were sent to family in Michigan and Ireland, pleading for prayers. As the day and night went on, Luca Joe amazingly showed signs of improvement; once again, he had defied all the odds. When the director of the NICU came to meet us on the morning of Tuesday, February 14th, he smiled, laughed and shook his head in disbelief at the strength and resilience of our son.

That night, however, we were told the CO2 readings from Luca Joe were at 82 and had been steadily creeping up. My heart sank as I knew the medical professionals had already exhausted all avenues in terms of different types of ventilators to help our son breathe – C02 levels in the ascendancy was the opposite of what Luca Joe needed.

I got to the hospital just before midnight and settled in for what we hoped would be another mammoth display of courage and resilience from our son. The hours passed but the gas readings coming back were not good.

About 3.15am, after consulting with the doctors, Liz and I made the decision to allow our son to pass naturally in our arms.

All equipment and tubes were removed from Luca Joe and we got to spend some private time with him. He was intubated for the five months of his life and so to be able to hold him and kiss his beautiful lips unimpeded was a memory I will cherish for the rest of my life. A few hours later, we brought John Leonard in to meet his baby brother for one last time. It was time for Luca Joe to now be with God in heaven. John Leonard still talks about his baby brother and speaks about him regularly – often wondering when we can get on the aeroplane to heaven and visit Luca Joe. The funeral Mass took place on February 22nd in St Andrew Catholic Church in Chicago. He was surrounded by family and friends and a huge representation of nurses and doctors from Lurie Children's Hospital which in itself is testament to the impact he had on them.

Below are some of my words from the eulogy I gave at Luca Joe's funeral, there is no other way for me to describe our love for him:

John, Liz, John Leonard and Luca Joe.

"We loved his beautiful lips that we eventually got to see the week before he passed after his tracheotomy took place. We loved his little hands, his boneless thumb, his clubbed feet with his two big toes that were actually smaller than all the rest of his toes – all of these perfect imperfections made him unique and even more special to us.

We loved everything about Luca Joe, his strength, his resilience, his courage and his refusal to give in. Through all the surgeries he faced, he kept on fighting back and his medical team were amazed at how he battled back from having CPR performed on him two days before he eventually passed. Despite his diagnosis, and the pessimistic statistics associated with Trisomy 18 babies we always felt that he would fit into the 5-10 per cent category who live beyond one year. That was not to be but we take great comfort in the fact that we as parents did everything we could for him, his medical team exhausted both themselves and their machines for him, and he fought to the very end until he accepted his call from God.

To Luca Joe – thank you for choosing us to be your parents. You brought us on a journey that we will never forget. You have changed our lives forever, and you have had a profound impact on your respective families both here and in Ireland, many of whom never got to meet you in person but hold you dear in their hearts. We have forged new friendships, we have gained more knowledge, we have learned to accept things that we cannot control, you have brought our family closer and made our hearts stronger. We are immensely proud of your courage and resilience, and there will not be a minute goes by that we do not think of you. We will all be together again one day.

Codladh samh mo bhuachaill bán, is gra linn thú gach nóiméad de gach la.

Cycling around Lake Michigan

In an effort to raise awareness about Trisomy 18 and to raise funds for Lurie Children's Hospital and Soft (the support organisation for Trisomy 13, 18 and other related disorders), I will be taking on the challenge of cycling around Lake Michigan starting on Saturday morning, September 9th.

The total route is 954 miles (1,535km), equating to a daily distance of just over 136 miles (220km) over seven days. The ambition all along was that I would finish on Luca's first birthday (September 15th) and that he would be with us – unfortunately, it will not be a physical presence but there's no doubt that our Bringer of Light will be with us in spirit. To follow our journey, go to @lapthelakeforluca on Instagram or see lapthelakeforluca.Com

Trisomy 18: Referrals To A Children's Palliative Care Service

Background: Trisomy 18 is the second most common autosomal trisomy in liveborn infants, characterised by severe psychomotor and growth retardation.

The median survival is 19 days, with only 5-8% surviving their first year of life. Despite recognising that trisomy 18 is almost invariably associated with death in infancy or early childhood, there is a dearth of published data regarding the palliative care needs of these patients.

It is estimated that there are 20 -25 new cases of trisomy 18 in Ireland annually, although the lack of a national database makes it difficult to confirm incidence rates.

Aims: To assess the referral rate of trisomy 18 to a Palliative Care service, review symptom burden and outcomes in terms of life expectancy & place of death.

Methods: A retrospective chart review of all cases referred over a ten-year period (2001-2010).

Results: 20 referrals were made. All had classical physical characteristics of trisomy 18. The most common reasons for referral were feeding & breathing difficulties, irritability and assistance with discharge planning. Mean age at death was 64 days.

Discussion: This is the first study to review the specific palliative care needs of infants born with trisomy 18, to show that successful home discharge is possible & to comment on place of death.

A national database is needed to identify infants diagnosed with trisomy 18, & to ensure correct resource allocation.

Neonatal pathways for babies with trisomy 18 could provide a framework for decision making & care planning, from diagnosis to bereavement support.

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