“I’m so glad you’re writing this article,” says Tracey Jarvis, whose son Spencer was born with a cranial-facial disorder. “When you're pregnant, you don't really think that your baby could be anything less than perfect. But it happens. And people should know that.”
“I also want people to know that if their baby isn't perfect, it isn’t the end of the world. You’ll have some very low times, you'll have to be tougher than you thought you could be, but there will be many, many wonderful, happy, rewarding times as well.”
A healthy baby. Most expectant parents will say it’s all they really care about — and most babies, of course, are born healthy. But what if yours is one of the babies born with special challenges?
After an intense, less-than-three-hour labour, Mark and Mirabel Wray were delighted to welcome their second daughter, Sarah. “She looked fine — perfectly normal,” Mark recalls. But, when Mirabel tried to nurse her daughter immediately after the birth, Sarah made some unusual clicking noises and had trouble latching on. The nurse reassured them that babies often don’t nurse well at first, and encouraged them to keep trying.
Feedings continued to be a struggle, but the Wrays weren’t worried until later that night. Mark had gone home, so Mirabel was alone when the nurse broke the news: Sarah had a cleft palate. The nurse handed Mirabel a brochure, and left. By the time Mark returned the next morning, Mirabel had spent a sleepless night, crying as she read the sections in the brochure about repeated surgeries, ear infections and speech problems.
Mark says: “It was such a shock. You take your vitamins, go to all your prenatal classes, get your ultrasounds and amnio, and you just expect everything will be all right. Then you find out something’s wrong.”
The Difficulties of Diagnosis
The cleft palate Sarah Wray was born with is one of the more common problems, affecting one in 700 babies. “The specialists were able to give us lots of information,” says Mark. “She’ll need to have surgery when she's about a year old, but we feel pretty comfortable about it because the doctors have a lot of experience with this kind of operation.” The Wrays hope that the surgery — which will close the opening in Sarah’s palate (the roof of her mouth) — will allow her to speak normally as she grows.
Other conditions are less familiar, and less easy to identify. Marcia and Paul Cudmore’s daughter, Claire, has Williams Syndrome, and that’s rare enough — one in 20,000 births — that their family doctor hadn’t even heard of it. That delayed the diagnosis for several months.
As Marcia recalls: “When Claire was born, she looked different than our other two children had. As soon as I saw her, I said ‘Paul, something is wrong.’ I asked to have her checked for Down syndrome, but when the doctor looked her over he reassured me that she didn’t have the typical signs.”
Over the following months, though, other little problems began to nag at Marcia. Though Claire was breastfeeding well and gaining weight, she seemed to spit up very frequently. Lots of babies spit up, so Marcia didn’t think much about it. But Claire also experienced repeated respiratory infections, and at six weeks, she was discovered to have a narrowing of some of the blood vessels to her heart.
Marcia was most concerned, though, about Claire’s development. At six months, she wasn’t smiling or making any attempts to sit up. Finally, the doctor suggested that Claire’s health problems and delayed development might have a single explanation — some kind of genetic condition that was causing all these symptoms. Even then, it took several rounds of genetic testing to put a name to the syndrome.
The Cudmores found the answer before they had the final results. “While all this was going on, we were searching on the Internet,” explains Marcia. “One day I found a picture of a baby with Williams Syndrome who looked just like Claire. And the symptoms matched. So we weren’t surprised when we got the diagnosis.” Williams Syndrome is caused by a gap on chromosome #7, and the usual symptoms include feeding problems as infants, narrow blood vessels in the heart and lungs, respiratory illnesses and developmental delays. These children also have a distinctive facial appearance — often described as elfin because of the small, upturned nose and wide mouth.
Marcia remembers that “when we found out, when it was certain, it was like a dark cloud settled over our house. Until that point I think we kept hoping it was really nothing. Paul and I spent most of a weekend crying. I guess we had to mourn the child we thought we had, and come to accept that there are some things she may never be able to do.”
Marcia adds: “At first, of course, you tend to focus on the negatives. But there are so many positive aspects to this syndrome. Claire is very warm, very loving — she’s the happiest kid around. She’s very sociable and sensitive to other people’s feelings.”
While the Cudmores waited many months to have a name for Claire’s condition, Tracey Jarvis and her husband, Doug, had an early initial diagnosis that turned out to be wrong. When Spencer was first born, Tracey recalls the nurse saying “Oh, I’ve never seen toes like that before.” And when she held her new baby and saw his unusually-shaped nose and facial structure, broad thumbs and broad toes, Tracey knew there was a problem.
The paediatrician who examined Spencer promptly referred them to a geneticist. Tracey recalls how that visit sent her into emotional turmoil: “I was just four days postpartum, and this doctor told me that, without a doubt, Spencer had Rubinstein-Taybi syndrome, and that he’d have eating problems, would probably never talk, would have trouble walking, would be very delayed in development. Most of it went right over my head, I just couldn’t take it all in. To me, he was just my baby.”
Rubinstein-Taybi Syndrome is very rare — there are only 600 confirmed cases in the world. That means there isn’t a lot of information available. “We were left with so many unknowns,” Tracey says.
The puzzle became more complicated as Spencer grew. At four months, he was doing all the normal four-month-old things — pushing himself up, smiling at his parents, exploring his world. The feeding problems that had been predicted didn’t materialize — he was breastfeeding well. The Jarvises returned to the geneticist who again stressed that Spencer had Rubinstein-Taybi syndrome and would be very delayed developmentally.
More months went by, and Spencer crawled, stood up and walked right on schedule. Tracey grew increasingly convinced that he wasn’t fitting the expected pattern for Rubinstein-Taybi at all. Then one day she saw a newspaper article about surgical correction of cranial-facial defects. The baby in the picture looked just like Spencer.
“We immediately made an appointment with the doctor in the article who told us, ‘He’s normal.’ Well, normal, except that he needs some surgery,” explains Tracey. Spencer, now two, has been through one operation to reduce pressure on his optic nerve and will need more in the future. He’s still developing normally, although his facial structure makes it difficult for him to speak clearly. And his doctors no longer believe he has Rubinstein-Taybi syndrome.
A Circle of Support
The days following the birth of a baby are always emotional for new parents, but when you are greeted with the news that your baby has special needs or a medical condition, it can be almost too much to cope with. Eileen Shea, a nurse and lactation consultant from Hamilton, Ontario, points out that in these situations, “New parents need a lot of support because their baby is different. It’s a shock. They love their baby, but this wasn’t what they had expected, and they may be overwhelmed with emotions.”
Support is sometimes hard to find. Tracey comments that when Spencer was a couple of weeks old, Doug called the hospital social worker, saying that they were having a tough time dealing with the situation and could she help them get some support. The social worker promised to call back. “We’re still waiting,” Tracey says.
Most social workers, of course, do call back. But the kind of support available to you will depend on several factors — where you live, whether your child’s condition is an unusual or common one, and your willingness to keep asking for help.
Jean Creagh is the mother of a son with Down Syndrome and a member of a parent support group in Calgary called Ups and Downs. She says: “Parents in the group are available seven days a week to visit new parents and provide face-to-face information about Down syndrome.” The Canadian Down Syndrome Society also has a video for loan or purchase, something Creagh finds extremely helpful for new parents.
Some health professionals go the extra mile to find the help special-needs babies and their families require. Barb Tilander, whose son Sam was born with brain damage, found a paediatrician she describes as “a pit bull type. He just got on the bandwagon and starting calling people to provide support for us. Sam had physiotherapy and speech therapy, and we had someone who came to work with him six hours a week one-on-one.”
While the Wrays were able to meet other parents whose babies had cleft palates through a program at the hospital, finding information and peer support can be more difficult when children have rarer conditions. The Internet has proved to be a lifeline for many families in this situation, as discussion groups can share information, research and support from around the world.
As parents come to terms with their own feelings, they turn their attention to providing the best help they can for their baby. Sue Fletcher remembers that when her son was born with Down syndrome, “I first had to come to grips with it myself, and to accept that Mark has a disability that is not going to go away. Then I could begin to take the next step.”
Shea feels that breastfeeding can be very positive for a mother when her baby has a special challenge. “Especially if the baby is getting a lot of medical treatment, breastfeeding or providing expressed breast milk is one thing a mother can do for her baby.”
While breastfeeding a baby with special needs is not always possible, in many cases a lactation consultant can help you overcome the challenges. And Shea reminds mothers that “it doesn’t have to be an either/or situation.” Even a few weeks of breastfeeding, or a partial diet of breastmilk, will help your baby. “Most mothers are very glad they at least tried,” Shea adds.
The parent of a special-needs child must also learn to be advocates for the child, and to be actively involved in making decisions about medical care, therapy and other treatments. “You know your child better than anyone else,” Tracey Jarvis says.
Marcia Cudmore seconds that. “I’d say read, read, read. Learn all you can about the particular challenges your child is dealing with. And then add in your own understanding of your child’s unique self.”
While professional services may be required and appreciated, they can’t replace the acceptance and support of family and friends. For the Cudmores, “Our extended family has been the main source of support for us.” Marcia’s mother put together a binder of information about Williams syndrome to share with others who wanted to know more, and the entire family has offered practical help when the Cudmores were spending a considerable amount of time taking Claire to doctor’s appointments. Now that Claire is an active toddler, “They include her in everything just like they do our other children. I think it’s wonderful that Claire has all these people who really care about her,” says Marcia.
Creagh suggests: “The best advice for family and friends is to handle the situation as you would the birth of any child. Congratulate the parents, hold the baby, bring gifts, offer to help around the house.”
Marcia also finds her older children, Daniel and Bethany, have helped give Claire “a normal environment. Life goes on, despite Claire's challenges — she’s just one of our three kids and that means she comes along to Daniel’s hockey games and Bethany’s music lessons and is part of all we do.” Claire’s also attending an integrated daycare program, and has speech therapy and physical therapy.
Tracey stresses that a baby with special needs is, first and foremost, a baby. “Just as with any baby, there will be times when you are frustrated or worried, and times when your child brings you great joy.”
Marcia shakes her head in amazement when she muses about what Claire has meant to her family: “You know, we almost stopped at two kids. But I am so glad we have Claire. She has brought so much joy to our lives. She reminds us to appreciate the little things, to slow down and value the moment. When she learned to sit up, and to smile, we were so thrilled. Every time she learns a new word, we all go crazy!
“Claire’s teaching us by her example that life is here to enjoy, and that the love we have for each other is the most important thing.”
Sometimes, as the parents interviewed for this story found, it can take some persistence to find local resources. You may have to ask more than once. Ask your caregiver for a list of support organizations. Call the public health unit. Inquire from your nurse about lactation consultants, home care, doula support, hospital social workers or counsellors who will be able to help you make good decisions and take care of yourselves and your baby.
There may be an organization devoted specifically to your child’s condition. For rarer disorders here are some good organizations to start with:
Canadian Organization for Rare Disorders (CORD) will provide information on the symptoms, treatment, prognosis and other medical aspects of more than 5,000 rare genetic disorders and syndromes. CORD also links parents and families for peer support. Phone 1-877-302-7273; web site: raredisorders.ca
Parent to Parent Link is an Ontario-wide organization that provides information about physical disabilities by phone, mail, or in person through trained volunteers. Write c/o The Easter Seal Society, 250 Ferrand Dr., Suite 200, Don Mills, Ont. M3C 3P2. Phone (416) 421-8377 or toll-free 1 (800) 668-6252 outside Toronto; website: easterseals.org
Provincial IODE Genetics Resource Centre, at the Children’s Hospital of Western Ontario, provides research and information about genetic disorders. They will also connect parents with support groups in local communities. Phone (519) 685-8453; toll-free (Ontario only) 1-800-243-8416; email: Janice Little at Janice.Little@lhsc.on.ca
Mothers United for Moral Support (MUMS) is an international networking organization that links families of children with any disability, disorder, chromosomal abnormality or health condition. They list 2300 disorders, and are in contact with over 11,000 families in 36 countries. Website: netnet.net/mums
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