Eight fingers and eight toes

Debbie Jorde1,*

In 1977, I was 20 years old and pregnant with my first child, Heather Madsen. There were no reasons to think anything would be wrong with my baby. When I had doubts, I looked at all the healthy babies born every day and believed nothing would be wrong. When people asked Heather’s father, Terry, if he wanted a boy or a girl, he told them he didn’t care, as long as it had ten fingers and ten toes. After 10 long months of pregnancy, the day finally arrived for Heather’s birth. In the delivery room, she was placed on my abdomen. My eyes locked on her abnormally bent arms. Immediately, I went into denial, telling myself, ‘‘her arms aren’t bent.’’ Terry asked what was wrong with her arms, making it harder for me to deny what was happening. I asked the doctor if the rest of her body was OK. He told me she only had eight fingers and eight toes.

Heather was taken to the nursery, and I was taken to recovery. I was in shock. My automatic reaction was to think I didn’t want the baby. Terry said he felt the same way and asked me what we were going to do. The pediatrician told me Heather had a cleft palate. He also said something was wrong with her eyes. When I asked if she could see, he said he didn’t know. He told me her ears were very small and cup-shaped, and that he didn’t know if she could hear. He said her forearms were short and her wrists were abnormally bent at a ninety-degree angle, and that the fingers on each hand were permanently bent. I was numb with shock. That night I didn’t sleep much. I kept waking, thinking I was having a nightmare. Then I would remember it wasn’t a nightmare. In the morning, I called

1Salt Lake City, UT, USA *Correspondence: debbie.jorde@gmail.com https://doi.org/10.1016/j.xhgg.2023.100215.

the nurses’ station and asked them to stop all my phone calls. I couldn’t bear to hear those three words, ‘‘I’m so sorry.’’ I cried all morning.

Later that day I became curious about seeing my baby. I walked to the nursery, where I could only see one baby. I was thinking how sad it was that the poor baby was all alone because her mother didn’t want her. But I was the mother. Tears were streaming down my cheeks. A nurse asked me if I wanted to hold her, and I said yes. While rocking Heather, I was observing her. I was thinking that she was the same baby I felt moving inside me for 10 months. She was so tiny, and she had a head full of dark hair, like my own. She had downward-sloping lower eyelids, exposing the red tissue inside the lower lid, and small cup-shaped ears. Her fore arms were short, and she lacked the fifth digits of each hand and foot. I placed my thumb in her little hand. Her three bent fingers curved around my thumb. My tears fell on her arm as I cried, wondering how this little girl would be able to do anything in this world with arms and hands like this. Even though she had all these problems, I was in awe, thinking that I helped create this little human being. Suddenly, my heart opened and was filled with the most incredible love you could ever imagine.

The pediatrician appeared and offered his assessment. He said Heather’s condition might be genetic and explained about recessive and dominant conditions. I knew I didn’t want this to happen again. I reacted instinctively by telling him I would get ‘‘fixed.’’ He didn’t have any conclusive answers for me and suggested that I talk with a geneticist. Terry came to the hospital that night. While we were eating, there was a knock at the door, and a team of doctors walked into the room. A cardiologist informed us that Heather had taken a turn for the worse. He said she was aspirating and had jaundice and a heart murmur. He told us the ICU doctor called him at home and told him about Heather. He felt Heather probably wouldn’t live, but decided to do a heart catheterization to investigate the murmur. He asked us to sign release forms giving them permission to do the surgery. He also asked us to sign a form giving them permission to do an autopsy. I felt numb as I signed the necessary forms.

As Terry and I waited, we talked about the difficult life Heather would have with so many disabilities. We also dis cussed our feelings of inadequacy to parent a child like Heather. Because the doctor asked us to sign an autopsy form, we thought she probably wouldn’t live. We thought it would be easier for all of us if she didn’t, and we prepared ourselves for that outcome. The cardiologist came back and told us that if he had known her heart looked so good, he wouldn’t have done anything. He said she had a small ventricular septal defect that would probably resolve on its own. I was still in shock because of all that was happening. I had accepted that Heath er may not live, but now it appeared she would. For one split second, my automatic reaction was one of disappointment, but that changed quickly. At that point, all I wanted to do was to see Heather.

The next morning, we went to see her in the ICU. Next to her was another baby with no arms or legs. This was the first time I appreciated what I did have instead of focusing on what I didn’t have. In order to take Heather home, I

Human Genetics and Geno mics Advances 4, 100215, July 13, 2023

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had to learn to tube feed her because of her cleft palate. I was afraid at first, but I learned tube feeding and we left the hospital together. My life from that point on was filled with uncertainties, doctors, and surgeries. When Heather was 18 months old, a geneticist told us they weren’t sure which syndrome she had. He said it could be Treacher Collins syndrome or another rare syndrome called postaxial acrofacial dysostosis (POADS), later named Miller syn drome. After further studies, it was determined she had the latter. He told us there were only three reported cases in medical history at that time and went on to say that this was a new mutation so the condition would not occur again if we had more children. He even added that my chance of having a second child with POADS was less than the average person because it had already happened. I was happy to hear this news because I wanted another baby.

When Heather was 2 and 1/2 years old, I became pregnant. I wanted to be prepared for the birth, so at 7 months along, I asked to have an ultrasound. The technician said I was carrying a healthy girl.

Two months later, on April Fools’ Day, I gave birth to a son, Logan Madsen. When I first saw him, I couldn’t believe that he had the same bent arms as Heather did. I asked the doctor if he had a cleft palate, and he told me he did. Logan was having problems breathing, so he stayed in an incubator for the next 2 weeks before leaving the hospital. Terry loved us and we loved each other; however, the emotional and financial challenges we faced resulted in the loss of our home and our car. Terry filed for bankruptcy, became depressed, and eventually left us.

I loved Heather and Logan with all my heart. This love guided me to the many ways I helped them. Love guided me to doctors who have per formed more than 50 surgeries on Heather and Logan. Love guided me to government agencies who helped them gain an education and live independently. Heather earned a bachelor’s degree in psychology from the University of Utah. Logan has an associate degree in graphic art from Utah Career College. Although I did every thing I could to help make Heather and Logan’s lives better and give them reasons to keep living, there was one thing that I couldn’t do for them. For 33 years, I couldn’t tell them why they had Miller syndrome or why they had a lung disease.

In 2008, scientists asked us if we wanted to be in a study in which our exomes and genomes would be sequenced to find the gene that under lies Miller syndrome. We had been in studies before but hadn’t learned any thing, so I wasn’t optimistic. We decided to participate. We asked to be informed regularly during the course of the study if the disease-causing gene was found. We met with a genetic counselor and ethics specialists. They needed to be sure we weren’t pressured to be in the study. We found some of their questions interesting, especially when they warned us that we may lose some of our privacy. We laughed at this because we already didn’t have privacy. People stared at Heather and Logan everywhere we went.

After many months, the scientists contacted us to arrange a meeting. Although we were excited to hear any news, we didn’t expect answers. When we were told they had found the gene for Miller syndrome, my eyes filled with tears of relief. I had no idea how hard it had been to live for so many years without answers. We were ecstatic! We learned that Miller syn drome is recessive and that they also found a separate recessive condition, primary ciliary dyskinesia, that caused Heather and Logan’s lung disease. Immediately, I felt a strong sense of peace and closure because my children and I finally had answers. Heather said that because she didn’t know why she had Miller syndrome and lung disease, she felt isolated and alone in the world. After receiving answers, she finally felt like she belonged to humankind. She said she learned her problems were just ‘‘mother nature working things out.’’ Logan was comforted to know that, because Miller syndrome is very rare and the gene was identified, he could probably have a normal child if he wanted to. He was excited about ‘‘putting a permanent bookmark in history.’’

Although Heather and Logan’s treatments didn’t change, we finally knew they were getting the right care. Having answers changed so much more for us than we ever thought possible. Being part of ground-breaking genome and exome sequencing research positively changed our lives and was exciting. We feel we have contributed something important to the world and that we are helping other families receive answers. We also enjoy knowing we are the first family worldwide to have our exomes and genomes sequenced to discover a gene for a Mendelian condition. We appreciate the important work scientists do to make people’s lives better.

Declaration of interests

The author declares no competing interests.

Web resources

Debbie Jorde is a writer and speaker who focuses on how to accept and overcome life’s challenges in her memoir, Eight Fingers and Eight Toes: Accepting Life’s Challenges and on her website https://www. debbiejorde.com/

Heather Madsen was a writer and speaker

who focuses on the beauty in life. Many of Heather’s writings are published in Debbie’s memoir and website. Logan Madsen works as a self-employed

artist. His website is https://www. loganmadsenfineart.com/ He lives to paint. He is the subject of the award-winning documentary, Logan’s Syndrome, which portrays the strength of the human spirit and inspires hope. It’s available on Amazon and other online streaming sites. Together Debbie, Heather, and Logan have

spoken to thousands of medical students in their human genetics course and other groups. Videos of their talks can be seen on Debbie Jorde YouTube: https://www. youtube.com/user/debbiejorde Sadly, on July 23, 2021, Heather Madsen passed away from endometrial cancer. A video of her celebration of life can be viewed on Debbie Jorde YouTube: https://www.youtube.com/watch?v¼xU WNQCD8HyM&t¼658s

2 Human Genetics and Genomics Advances 4 , 100215, July 13, 2023