Liz Woodfield

Hi there. My name is Liz. I am a nurse who works for a Biotech company. My husband Bill and I have two lovely children – Christopher and Charlotte. Christopher was born in 2008 – early, breech, 5 lbs 10oz, and spent 11 days in the NICU. He was very ill when he was born. Charlotte, on the other hand, was born in June 2011 at 42 weeks 2 days, vaginal delivery, 6 lbs 9 ounces, no issues, no NICU. Charlotte has Tetrasomy 18p.

We did not do chromosome testing in utero for either child – my son is typical – 46 chromosomes. We did do some early genetic testing – looking for markers for Trisomy 18 and 21 and did the 12 week ultra sound. Christopher’s markers looked worse than Charlottes. On the ultrasound no gross abnormalities were seen and thus we decided we would go with whatever we got. Getting pregnant had been hard for us so we did not take these pregnancies lightly.

When Charlotte was born the pinna of her ears were folded over at the top and her ankles flexed laterally and she could intertwine her toes – unusual but did not spark too much concern. She also had the cutest little button nose, i.e. low bridge. She has developed epicanthal folds on the insides of her eyes and on occasion can go a little cross eyed when she is tired. Charlotte was perfect for the first two months of her life. She breast fed, gained weight, and grew normally. Then she was hospitalized with a summer cold for 6 days. Bronchiolitis – and asthma – that runs in my family – then she was good again till 5 months – starting on solid foods and then WHAM – another hospitalization and this one she almost died from breathing difficulties. For the next year and a half there would be numerous trips to the ER, many hospitalizations, and pneumonia associated with asthma multiple times. She and Christopher were going to a normal daycare and the germs were winning. We had seen all the specialists and although Charlotte was still on pureed food and didn’t always drink as much as we wanted, we were able to keep her off a feeding tube. She was diagnosed with Tetrasomy 18p at 14 months.

I still remember the phone call. I was in the vegetable garden weeding and the Neurologist called himself to tell me the news. I was just stunned. I had no idea what it was and so began the education, and the doctor visits. We checked out each system, got orthotics for pronated feet, and we had 5 therapy sessions a week from Early Intervention. We eventually pulled the children from daycare and hired a nanny for a year so that Charlotte could have a break from being sick. It worked. She finally began eating solid foods, without gagging and throwing up, at a month before her third birthday. She is still a picky eater – no sweets – giver her bacon!!! She doesn’t chew very well, if at all sometimes, but she does swallow efficiently. She still drinks from a bottle with the nipple cut wide open – lose some battles to win the war – when she wants to drink from a cup it will be there. She does have a tendency towards constipation – she would have very big hard poops when she was a baby – but now she gets a teaspoon of olive oil in each bottle she drinks and all seems OK.

Charlotte is globally delayed but she does have words. She is considered Apraxic. Her enunciation is very poor – a narrow palate and low tone probably don’t help. She understands everything that is said to her and can follow directions – if she wants to. She can sign and we are starting on potty training now and hope to have some success by the end of the summer. She will be 4 then. She stood at a year and a half, un- assisted, and walked before two, but she does have coordination issues and has some spectacular wipeouts. Luckily she has learned to hold her head up when she falls so the road rash is generally on the body and not the face. She works very hard at doing whatever it is that she wants to do. She can climb like a monkey and goes up and down the stairs by herself – still scares us but she is so hard to stop at this point. She does not know herself to be disabled – and I’m not going to tell her she can’t do something. (Which has led to some issues with No being a rather unfamiliar word to her and her running amuck the last year – she is starting to have a very sound understanding of NO – but she generally laughs and carries on!)

As anyone reading this knows, everything changes when you have a child with disabilities. But I also feels blessed to have such a wonderful daughter and son and a fabulous partner in life in Bill. This is our lot in life – it’s time to make the most of it – for Charlotte and for the rest of us. We joined the Registry in the spring of 2014. I wasn’t ready to talk with others about their children. I take this all to heart and if I heard the stories of others while Charlotte was still so sick I thought I might be truly overwhelmed. Everyone handles this differently. Once Charlotte’s health stabilized a bit after being put into the bubble for 9 months I was finally able to look up and begin to meet others who were going through similar situations. I am so excited to be a part of the Registry now and I am thrilled that they care so much about what our daughter Charlotte is affected by. I have become a pathologically positive person – I have my down moments – but I can truly find the bright side of almost any situation! It’s got to be a coping mechanism. So I am very excited about the incredibly promising research being done for our children with the Chromosome 18 specific.