Welcome To Holland

by Emily Perl Kingsley

I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this......

When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.

After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."

"Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."

But there's been a change in the flight plan. They've landed in Holland and there you must stay.

The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.

So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.

It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts.

But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."

And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very very significant loss.

But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ... about Holland.

CS family in the Book Alphabet Kids

Alphabet Kids
chapter about Cockayne Syndrome

Tim and Haylee were only 18 when their son Ian was born on Dec. 29, 1997. Ian Walker was 6 pounds, 8 ounces, and 19 inches tall. Haylee and Tim took Ian home the next day, a snowy Tennessee Tuesday.

Ian hardly ever cried, although he had feeding problems that eventually got so bad he’d vomit every time he was fed.

At that time, the doctors said the young parents should just keep an eye on him, since he was gaining a little weight. At his four-week check-up, the doctors mentioned that Ian hadn’t gained a pound and his head hadn’t grown much, “but it should catch up,” Haylee says she was told.

Ian was started on reflux medicine, which never helped. He was also diagnosed with an underactive thyroid, and he began medicine for that.

At 4 ½ months, Ian was holding his head to the left side and couldn't turn it to the right by himself. His legs also seemed to be very tight. At 8 months, he still couldn’t keep any of his food down. He was hospitalized for observation, an NG feeding tube was placed in his nose, and a CAT scan was performed.

“The pediatrician came in and said his scan wasn’t normal and that Ian was going to be retarded,” recalls Haylee. “He put it so nicely.”

When Ian was 9 months old, he had several procedures—the placement of a gastronomy tube (g-tube—a feeding tube in his stomach) and surgery to alleviate chronic reflux. “He was cut from his breastbone to the top of his belly button and was acting like it didn’t hurt,” says Haylee.

An MRI, along with CAT scan results, showed that Ian’s brain was underdeveloped, had abnormal white matter, enlarged ventricles, and other abnormal findings.

Ian’s diagnosis was microcephaly, Dandy-Walker variant, and CP (cerebral palsy). The neurologist told the young parents that their young son “would probably be a vegetable and not live very long.”

Geneticists performed numerous tests, all coming back normal. One geneticist said Ian’s condition was “a fluke” and shouldn’t happen again.

Ian started on Botox injections, which helped his muscle tone, and began to walk for a few steps using a walker. He also sat up by himself for about three weeks.

“All our ‘little fluke’ wanted was to be held and have people to talk to him,” says Haylee.

During this time, Ian was still vomiting, often dry heaving.

At 1 year, Ian seemed well. His vomiting became just a part of their lives. “He wasn’t a vegetable!” Haylee declares.

For a year, Ian’s saw many GI doctors, but none offered help. He was often hospitalized for dehydration. Even a cold would send him to the hospital. One GI doctor even expressed anger that Haylee and Tim had brought Ian somewhere else for a second opinion.

Ian was exhibiting other strange symptoms. His penis appeared very small and one of his testicles had gone back up into his body and was stuck, so surgery was performed to redo Ian’s circumcision and lower his testicle. His muscle tone was getting worse, and Botox was no longer helping. Through all this, Ian remained happy, even enjoying the hospital stay. He was a great sleeper and never complained about anything.

When Ian was 2, his liver enzymes began to rise. He scratched constantly and made himself bleed. They tried medications and numbing lotions, but Haylee says, “He would claw himself to pieces.”

Ian’s feet were always cold and would turn bluish-purple—more symptoms doctors couldn’t explain. His growth had also slowed, so the endocrinologist started him on growth hormone. As if the caretaking for Ian wasn’t high maintenance enough, his parents now had to administer nightly injections.

Ian developed vision and hearing impairments. He had a lazy eye and wore a patch on the good eye to strengthen the weaker one. This didn’t help at all. Ian was also very sensitive to the sunlight and would hide his eyes whenever he was taken outside.

“He also had begun sleeping with his eyes open . . . creepy!” says Haylee. “They never shut on their own. “

Ian was found to have moderate to severe hearing loss, but doctors felt it was more of a processing problem than a hearing one.

His liver enzymes were still rising, so Ian was brought to Vanderbilt University Hospital, 3½ hours away. A liver biopsy was conducted: it showed nothing wrong, and the family was sent home with some medicine and told it was a virus.

During this time, Haylee became pregnant and had a miscarriage.

Ian’s third year was better than his second, with fewer hospital visits. Haylee learned that the moment he seemed sick she should stop feeding him and start Pedialyte (for diarrhea and dehydration) and medications. But he was still scratching, with scars all over his face from digging at it so much. He had to have surgery again to remove an underdeveloped testicle; they were told leaving it alone could cause cancer. His vision was getting worse and surgery couldn’t fix it. His muscle tone in his legs was getting very bad. He was still vomiting a lot. And this year was better than the previous one! But still through all this, Ian never cried and was happy.

“So we just went on with life and didn’t think much about his outcome,” Haylee remembers.

Haylee became pregnant with Gage shortly after Ian’s third birthday. It was something for Haylee and Tim to look forward to. A month before Ian’s fourth birthday, Gage was born.

Ian was becoming much thinner, with sunken eyes. He hadn’t gained weight or grown very much in length despite receiving growth hormone.

Ian’s fourth year was the roughest. He slept fourteen-to-eighteen hours a day; if awakened before he was ready, he’d throw up and fall asleep wherever he was. His scratching and muscle tone were becoming worse. They cut his feedings down to what he needed to stay hydrated, so he wouldn’t be so sick. His liver function was still haywire, and he became jaundiced. Haylee says he “looked like a lizard . . . his eyes went outwards.”

Ian’s muscle tone had become so bad that his hips pulled out of their sockets, so he needed surgery to loosen the muscles and pop his hips back into place. For the first time in four years, his thyroid medications needed to be upped. But there was still no conclusive diagnosis.

“No one ever said, ‘Your kid is in liver failure, he might die soon,’” says Haylee. “No one ever told us that he was that sick. We didn’t notice, I guess, because we were with him every day and didn’t notice how much he had changed. It is amazing what parents don’t notice.”

The family celebrated Ian’s fifth birthday with a big party, five days after his birthday. “He had one of his best days in months,” recalls Haylee. “He hardly threw up and was so happy.

“We were all at home, and we were cleaning the house,” Haylee remembers. “He was sleeping all day. I cut his feeding pump off and changed his diaper around noon and ran him some bath water. I told my husband to go ahead and give him his bath. Next thing I hear is, ‘Oh God . . . Haylee!’

“I went upstairs thinking maybe Ian had gotten out of his bed or threw up everywhere. He was gone.” Ian passed away on Jan. 3, 2002.

“It didn’t seem real,” says Haylee. “We had always kept it in the back of our minds [that] he wouldn’t live forever, but never thought it would actually happen or happen that soon. We were in shock. He looked like he was just sleeping. We called 911, and I changed Ian’s diaper and took off his PJs and wrapped him in a blanket. I’m not sure why I took off his clothes. I was going to go ahead and bathe him, but the ambulance came. I’m not sure what I thought I was doing. When the ambulance came, they made us put him back in his bed where we found him so they could pick him up. They had us follow them to the hospital so that a doctor could pronounce him dead. Then they let us stay with him until the funeral home came to get him.

“I couldn’t believe that he was really gone. He looked so peaceful, and he still had his eyes half open. We also knew that he was in such pain and he was in heaven and would never be in pain again. We felt sad that we would never get to hold him again or hear his beautiful sounds. But he was in such a better place and was perfect. We had his funeral, and I handled myself so much better than I thought I would. The owner of the funeral home let us come the day before and let me hold him one last time. That helped me so much.”

A few months after Ian passed away, Haylee found out she was pregnant. She remembers feeling that something wasn’t right during her pregnancy but didn’t dare say anything. The doctors reassured her that the baby’s measurements were normal.

Eden Elizabeth Carroll was born on Dec. 2, 2003.

At birth, she looked like Ian, with a very small head, but still considered on the “normal” side. The following day Eden was sent for a CAT scan, which came back normal.

“So we thought, of course she looks like Ian, he is her brother,” says Haylee.

Eden was a very difficult baby. She would scream, not cry, all the time. Nothing seemed to soothe her.

Eden’s regular pediatrician visits showed she was “getting fat,” but her head still hadn’t grown much. At 3 months, her MRI showed pretty much the same thing Ian’s had. And the routine started all over again—therapies and constant fruitless doctor appointments. But finally it was suggested that it was a genetic disorder.

“They still had no idea what my kids had and really didn’t seem that interested in finding out,” says Haylee. “They diagnosed Eden with a spastic paraplegic disorder that her symptoms didn’t even fit.”

Eden went through some helpful speech therapy, but at 9 months her growth slowed down. Lab tests showed elevated liver enzymes—the same problems Ian had, but starting earlier in life. A GI doctor blamed it on poor nutrition, so they put Eden on an NG feeding tube to see if she could gain weight, and she did. When she was 15 months old, doctors put a G-tube in her stomach, thinking that, if they got her overall weight up, her liver enzymes would come down. The GI doctor had Haylee quit nursing and put Eden on a formula that was easy on the liver. Eden quit eating food by mouth after she quit nursing. She began gagging on her baby food and would choke. On the upside, she did gain weight and grew taller. But her liver enzymes still failed to come down. So the GI doctor suggested that, since Eden’s liver problems were starting earlier than Ian’s, she probably wouldn’t live as long as he did. He advised Haylee to let him know when they wanted hospice. Haylee was angry.

“That was not OK with us,” she says. “We had no idea what she had, and they didn’t care to try and find out.”

Even visiting the well-regarded Johns Hopkins Medical Center didn’t help. “We went on with our everyday lives and kept up therapy, and Eden learned how to army crawl and side-sit. Then, shortly after Eden’s second birthday, her liver enzymes had gone up to over 600—normal is 30. So we were freaking out. We are very lucky to have a great pediatrician. She contacted Johns Hopkins, and they said, ‘She needs to be here right now.’ So we made the ten-hour trip once again and had her admitted to the hospital. They ran a battery of tests and asked lots of questions. The most popular question was, ‘Are you and your husband kin?’ We got asked that question a handful of times.

“They had no answers for us. They did testing on her heart, and it was normal. She had an ultrasound on her liver, and it was normal. A genetic ophthalmologist said Eden had bilateral cataracts, but she also had a pale optic nerve and retinopathy. She said she would look at her eyes again when she had her liver biopsy so she could see her while she was asleep. The eye doctor came out after seeing Eden’s eye while she was sedated and said she had Type II Cockayne syndrome, a degenerative disorder. We then asked the geneticist what she thought, and she said, ‘No, that’s not what Eden has.’ She said Cockayne had to do with skin cancer. So we went back to the hotel and looked up Cockayne syndrome on the Internet. We first saw photos of some of the kids on the Cockayne Share-and-Care Web site and one boy looked so much like Ian. We knew just from looking at the photos that this is what our kids have. We then looked at the symptoms and cancer wasn’t one of them, but every symptom Ian and Eden have/had was there. They pretty much had every symptom listed. It was so eerie looking at this Web site and seeing my kids.

“So now we have a diagnosis, and even though the outcome is that the kids live an average of five years, it is still better than the doctors telling us she may not see her third birthday. I was so excited to finally know what my kids have. Now comes the hard part of knowing exactly what happened to Ian and what is going to happen to Eden. This is an aging disorder, which explains what happened with Ian and how he changed so much. Now we look at Eden, wondering, ‘When is it going to happen?’

“So Eden is 3½ years old now and is doing better than I could ever imagine.”

However, Eden has begun scratching herself, and she doesn't like to sleep, so there are many sleepless nights.

Another mother who lost a child to Cockayne reminded Haylee to think of the sleepless nights this way: “One day you will be thankful you had those nights with Eden.”

“We try to look at it that way,” says Haylee. “Eden is such a joy to have and brightens up our day and can always make us laugh. I feel blessed to have her.”

Buy book here

Julia's Family: Julia's New Family!!!

Julia's Family: Julia's New Family!!!: "On behalf of my wife Carey and I, I would like to say hello and thank you to the hundreds of people who have followed Julia's plight on Adey..."