Biographies

   Abby    Emalin & Caitlin
   Max    Debbie
   Jessica    Joanie
   Quinn    Nikki
   Jacob & Nick
Abby

Abby vanZutphen

Abigail Janet vanZutphen was born 2 weeks premature on June 22, 2004. She weighed 6lbs 5oz. and was 18 and a half inches long. Soon after her birth, she was diagnosed with respiratory distress syndrome. Other than that she was perfect...then I noticed her broad thumbs and toes. She also had so much black hair. She was transferred to the IWK Children's Hospital in Halifax, NS. A few days later the doctors told us that she had several anomalies that they were concerned about. She has coloboma on both retinas, duplicated collecting system on both kidneys, a PDA on the heart and partial absence of the corpus callous (stem of the brain). Aside from her needing oxygen and everything else, I cried uncontrollably. I went straight to my computer and typed in all of these features. I came across Rubinstein-Taybi Syndrome and in my heart of hearts I knew that this is was she has. Sure enough, the next day, the geneticist met with us and confirmed my suspicions. All I can remember is crying and thinking "how am I going to look after this baby?", but God gave me this precious baby for a reason and I firmly believe that she will make me a better mother and she will teach me things that I could only dream. Every time she smiles at me she melts my heart. Everyone who has seen her is drawn to her for some "special" reason. I feel blessed to have her and she is a true gift in my life. She has proven all the doctors wrong with her constant progress and determination. She is a fighter!!

Abby has 2 sisters Gracie(5), Emma(2), and one brother Liam who is 4. They just adore her and with all these kids around, she is sure to do everything a normal child would do. Abby lives on the beautiful island of Cape Breton in the small town of Port Hood. She is the only case of RTS in Cape Breton, so all of the doctors we have seen are quite interested in her!! She is a true joy in our lives and we can't wait to watch her grow!! She is the star in our home!!


Emalin

Emalin & Caitlin

Caitlin & Emalin were born August 15th 2003, 5 weeks premature. With 8 hours of labor and my inability to push, the girls were taken by c-section; Caitlin arriving at 2:56am, weighing 4lbs 12oz and Emalin arriving at 2:58am, weighing 4lbs 2oz. I only had the chance to see the girls for a brief second before they were whisked away. Still in the aftermath of childbirth I didn’t think much besides “those can’t be my babies! Look how much hair they have”. The girls were rushed out of the delivery room and taken to the nursery to be incubated, Chris also left with the girls.I was taken to my room shortly afterwards, where Chris was waiting.Something about him just didn’t seem right. He told me that the girls had crooked thumbs (he was already told about RTS but didn’t want to tell me). The Pediatrician came in almost immediately and announced the girls had a rare syndrome called Rubenstein-Taybi’s Syndrome.He described some of the features and said that they would never walk or talk, then left the room with no further information or support.We were left with an emptiness that is indescribable.From that moment we began the emotional roller coaster throughout the following weeks.The girls were taken to Royal Columbian Hospital and had a four week stay in the Special Care Nursery due to their prematurity and inability to stay awake long enough to feed.A battery of ultrasounds and genetic tests were done. The girls each had a hole in their heart which we were told is quite normal in babies and so far has not caused any problems and they should close over time.Emalin has a small cyst on her kidney, which also has not caused any problems. All genetic tests have come back normal.We have been lucky so far that the girls have not suffered any medical complications.

Shortly, after the doctor told us that our precious angels had RTS I was determined to learn more.I checked myself out of the hospital 7 hours after the girls arrived and rushed home to surf the Internet.I began reading and was relieved to read that the girls WOULD WALK but was mostly shocked that this was all happening to us.How could this happen to us.????? I read and read about all of the medical complication that may happen and thought, “How will we be able to handle TWO babies/children with disabilities?”We just didn’t think we could do it.So we started researching our options, mostly adoption.We then spoke to our families and told them that we were considering putting the girls up for adoption.They were very supportive and told us that they would support any decision we made; it was comforting in this time of loneliness.We just didn’t know how we could raise two children with disabilities as much as we loved these little girls and just couldn’t imagine it.We were scared of the unknown and had to think of the girl’s best interest and who would be able to give the girls the care they needed.Over the next few weeks, we spent a lot of time crying, visiting the hospital and talking with other RTS families. We made the decision, with a lot of support from our family and other RTS families that “We were the ones who could best care for these precious girls”. Without all of the love and support we received especially from the RTS support network we would have given the girls up and would not have ventured onto this wonderful journey of life with OUR GIRLS.

Of all days, September 11, 2003, the girls came home. Unfortunately, many families lost their loved ones on this day and we will continue to remember all of these families.We will also remember this day as the day our family began.Two angels came into our lives.We have not once regretted our decision and feel lucky to have TWO special little girls who have brought more joy to our lives than we could have ever imagined.When we made the decision to bring the girls home I made a promise to myself to NOT feel sorry for the girls or myself.I have on the most part kept this promise.I do have the occasional moment where I still can’t believe they have RTS but it is a wonderful part of who they are and who they will become in the years to come and we feel lucky to have them.

This experience has made us better people and I would not trade it for anything in the world.I feel that we are one of the luckiest families on the earth to have such wonderful girls.We are looking forward to our life together!

Please feel free to contact us @ this address
Brenda, Chris, Caitlin & Emalin


Max

Maxwell Estes

Mighty Max was born on February 24, 1997. He lives with his parents, Janet & Jeff, and siblings, Devin & Zoë, on Vancouver Island in British Columbia, Canada. At the time of this writing (March '99), he has just celebrated his second birthday. What growth and changes two years have brought!

Like many children with RTS, Max has undergone several surgeries (bowel, g-tube, testes, thumbs), procedures and tests at a very young age. Fortunately, for now he's through all the necessary interventions without any others anticipated (except possibly dental issues down the road).

In terms of Max's developmental milestones, his progress has been very gradual, though steady. At 24-1/2 months we're thrilled that he has finally started to creep and crawl! Though still preverbal, Max understands much of what we say to him (through speaking and sign language) and he certainly doesn't have any problems communicating his needs to us!

Max is generally very healthy with no major illnesses to report since his last aspiration pneumonia when he was four months old. However, Max does still struggle with constipation. After exploring many dietary approaches with little success, we have resorted to supplementing him with a stool softener. Max's pediatrician is confident that Max's constipation issues are related to his low muscle tone and that as his tone improves his internal motility will naturally improve also.

Max was hospitalized for many weeks after his birth, but since he came home at three months of age he has been involved with several caring and devoted therapists through our local Infant Development Program. His team is always there for him and they are a valued source of information, guidance and support along our journey with Max.

Max's favourite "therapists" though, are still his older siblings - Devin (born 12/85) and Zoë (born 02/88). Zoë "mommys" him all the time and Max is particularly fond of her staging plays with all her puppets and stuffed animals or singing & dancing for him to a variety of music. Devin often gets rambunctious with Max and they both love to rustle and tustle with one another. Max learns so much from his big brother and sister and they all make each other laugh, a lot!

Max has an enviable knack of bringing out the best in everyone. He is truly an extraordinary being and very generous about showering his special gifts and charms everywhere he goes! We often shake our heads wondering just how we got to be so lucky to have been blessed with Magical Max in our family!


Debbie

Debbie

I would like to introduce my oldest daughter Debbie. She was born in Halifax, Nova Scotia on Feb. 21/82. When she was born, there was no mention of any problems, but I noticed that her big toes were a little different looking. At six months of age, I asked the doctor if her development seemed to be delayed (wondered if it might just be first-time-mom nerves).

He told me at the time that she was "just lazy like her mother". That stung a bit!

By the time she was a year old and still not able to even crawl - just nicely able to sit up unassisted - I began to get increasingly concerned. I asked the doctor to get me an appointment with a paediatrician in Halifax.

After this doctor had seen her (about 3 months later) he decided to admit her to the IWK hospital for tests. He said it would take about 2 -3 days. We were there for 11 traumatic days. One of the residents insisted she had Fetal Alcohol Syndrome, and came really close to harassment in her questioning as to my consumption of alcohol during the pregnancy. She did not believe me when I repeatedly told her that from the moment I learned I was expecting, I did not drink one drop of alcohol. We left with no diagnosis at all.

I arranged for my mother to make an appointment with Dr. Singh in Sarnia, Ontario for our next visit home. Finally at age 19 mos. we got a diagnosis - RTS. The literature that he gave me described Debbie in detail.

Debbie finally started to crawl in the summer of 1984, and she started walking on May 12/85 - Mother's Day! Deb has had few medical problems and only one surgery, to correct strabismus in her right eye at age 14 months. Our greatest concern is the frequency and severity of her epileptic seizures, but recently there has been some improvement in that area.

Debbie is usually a very happy, friendly outgoing teen, who loves school and any outing that you could think of. Deb communicates using sign, some vocalization and just plain dragging you to what she wants. She gives the best hugs in the world! And she has taught us many things.


Jessica

Jessica Ashley Harvey

Jessica Ashley Harvey was born on December 10, 1993. She had an extra big toe on each foot and wide angulated thumbs.We were sent to Sick Children’s Hospital to see a pediatrician and plastic surgeon. At five weeks of age, Dr. Clarke, the plastic surgeon, told us that Jessica was developmentally delayed.I was shocked.I didn’t want to believe that they could diagnose it at five weeks of age.As it turned out, Dr. Clarke was correct. This was the beginning of many, many trips to the Hospital.

As Jessica began to get older, her doctors were concerned that she was growing very slowly. She was in the low percentile for her weight and height. Just before Jessica turned 5, we were contacted by the developmental assessment clinic at Sick Kids to come in for an assessment made by numerous doctor’s who worked with her as well as observed her through a one way mirror in order to determine what level she was functioning at. Up until this time, there were two syndromes that had been considered… one was Fifer Syndrome and the other was Rubinstein-Taybi Syndrome (RTS). She had blood removed to test for both syndromes. The hospital tested for Fifer’s syndrome, and after receiving the Provincial Government’s approval, a sample was sent to a lab in Texas to test for RTS.

As it turns out, only 25% of people who have have a small deletion in one of their chromosome. Jessica did not have this deletion nor did she have Fifer’s syndrome. Jessica was diagnosed by her similar characteristics to other children with RTS. I discovered this when the hospital sent me a developmental report a few months later.

Jessica is continuing to make progress in her development. She is currently in a multiple learning disability class in a public school and has 6 other lovable children that she adores. She has overcome her disabilities and continues to amaze everyone at how easily she adapts and although she sometimes gets frustrated when we can’t understand what she’s saying, her speech has come a long way. We are very proud of her development. We were so excited when she started stringing words together in a sentence.

Jessica also has a younger sister, Melanie, who is such a big help. Melanie spends lots of time trying to teach Jessica things. Many times you can hear them singing the ABC’s together in the bedroom or “You are my sunshine” in the shower. Melanie is 26 months younger than Jessica but has surpassed her in size.

When Jessica smiles, her eyes sparkle and look like half moons. She is a happy child who loves to build things with blocks, especially “birthday cakes” which she sometimes puts in the fridge.Frequently she comes out of her bedroom with her cake and sings “Happy Birthday”.She is very friendly and loves to call her friend William, who is in her class at school, on her play cell phone. She enjoys playing with her babies and stuffed animals as well as listening to music. Jessica loves to imitate us while we are vacuuming. She gets out her toy vacuum and walks around behind you. Jessica is always saying “Help you” and “You are the best”.

Jessica continues to be a joy and inspiration in our lives and we look forward to helping her develop and grow.She continues to overcome her disabilities and amazes everyone at how easily she adapts. Sometimes, I think there are some lessons we could learn from her. Jessica is “my sunshine” and along with her sister, continues to bring happiness into our lives.


Joanie

Joanie Lavigne

Hello! My name is Joanie Lavigne. I was born on 1 June 1988 in Portage la Prairie, MB. Since then I have lived in Chilliwack, BC, North Bay, ON and now Gatineau, QC where I reside with my mother Chantal. My father Jean lives in Ottawa, ON, some twenty minutes away. My parents were both members of Canada's Armed Forces, hence the reason for my having moved around so much. I attend school full time in a special program which has us concentrating on life skills such as social interaction, independence by learning how to dress, basic household chores, and learning letters, numbers, shapes, and colours. Outside of school, I am a VCR fanatic, watching the Olsen Twins and the like.I also enjoy camping, swimming, and swinging.

I was diagnosed with RTS at approximately 5 months of age. As an infant, I spent five weeks in Winnipeg NICU because of severe reoccurring apnoea. It suddenly stopped and the cause was never determined. At four months of age, I had facial-cranial reconstruction to correct fused parietal bones and the absence of a fontanel (Winnipeg). At seven months, I had an extra toe and finger removed (Winnipeg). At four years old, I had corrective surgery for my angulated and broad thumbs (Toronto). This surgery was marginally successful. I started wearing glasses when I was about three. All was well until spring of 97 when I started having partial-complex epileptic seizures which we now have under control. My major developmental milestones have been: walking at 4, potty trained in daytime at 7 and at nighttime at 8. I continue to suffer through extended bouts of constipation. My greatest challenges continue to be communication, although I understand both French and English, and excess weight. My speech consists of a few minor sounds. Therefore, I communicate my needs through some very limited sign language and a picture board. As for my weight, it is likely a result of lack of physical activity, some over-eating, and something which seems typical of RTS.

My father is one of the driving forces behind RTS Canada and he spends many hours at his computer trying to move this worthwhile endeavour forward. I fully support him because this leaves me in charge of the VCR. Even though my mother and father are not together, (they separated when I was 3), they have never lost sight of my needs and have continued to ensure that I am loved, cared for, and always receiving the best of care. I love them both very much and I reward them often with my captivating smile, and my hugs and kisses.

Love to all,
Joanie

Ottawa, ON, and Gatineau, QC, Canada
Dad's e-mail address is jean.lavigne@rogers.com


Quinne

Quinn McRorie

Meet Quinn Douglas McRorie. Quinn was born December 28, 1995 and diagnosed with RTS at nine months of age. He lives in Winnipeg, Manitoba, Canada where he is an active 7-year-old attending grade one in a fully integrated classroom. Quinn is a friendly little guy - quite the social butterfly. He keeps his mom pretty busy, as he never sits still.

Quinn's diagnosis left his family feeling very shocked and alone. They, of course, had never heard of RTS and had very little information as to what the diagnosis would mean for their son. After months of feeling this way, services began to fall into place for Quinn and his family and Quinn began to receive regular OT, PT and ST services. He also was assigned a Child Development Counselor who worked with him on a bi-weekly basis. Now that Quinn is in school, he receives therapy through the school system and is assigned a teacher's aid to help him in class.

Developmentally, Quinn has been doing very well. He was sitting unassisted at 6 months of age, crawling at 10 months and began to walk at 21 months of age. Quinn has always been a very vocal little guy and so his family was a bit skeptical about believing he would not talk. Nevertheless, Quinn's mom began teaching him sign language when he was about a year old. It was a great day in the McRorie household when Quinn said (or rather signed) his first word "milk". Quinn learned quite a few signs but never uses them anymore since beginning verbal speech around the age of two. He has come a long way since then and now speaks age appropriately. Quinn has a large vocabulary and loves to "collect" big words.

Healthwise, Quinn is doing very well. He had surgery for undescended testicles just before he turned two. Quinn's biggest health issues have been constipation, ear infections and poor weight gain. These problems seem to have been alleviated now that he is older, although he still drinks plenty of white grape juice to prevent constipation.

Quinn is a determined little guy capable of doing anything. He has brought so much joy and happiness to his family. It's impossible to imagine life without him - just the way he is....perfect!.

If you would like to get in touch with Quinn's mom, Lisa, send a message to qmcrorie@mts.net


Mathilde and Nadège

Nikki

I would like you to meet my daughter Nikki. She was born on December 24 1998 at 8:33am. Nikki had a very rough start in life, she was born about 7 weeks premature. Nikki was ventilated for 17 hours after birth. She spent the first 4 weeks of her life in hospital. She weighed 3 pounds 10 ounces and was 16 inches long. When she left the hospital she weighed 4 pounds.

At 1 day of age her pediatrician noticed the classic features of RTS.The FISH study was done on her by 1 week of age, 6 weeks later the test came back as everything being normal. Nikki recieved all the standard test. All are normal!!!!! yah

The only real difficulties I have had with her are: She has an over sensitive toungue and palate and is unable to suck on a bottle, therefore she has an NG-tube which she has had since the day she was born. It is not believed that she has reflux but she has also never been tested for it. Her doctor says that IF she does have it its mild.

Nikki is now almost 7 months old and is very heathy. She currently weighs over 12 pounds. And is 24 inches long.

Milestones:
Nikki is at about the right age for her due date when it comes to her achivements.

e-mail- mum2nikki@home.com


Jacob and Nick

Jacob and Nick

On November 12, 1999 the Woelfle family was blessed with the addition of two precious angels, Jacob Dylan and Nicholas Baird. Our identical twin boys were born 3 months early and made a dramatic entry into the world. They were born at 2 lbs., 11 ounces (1220 grams) and 2 lbs., 12 ounces (1250 grams) respectively. Since they were still so tiny, and not fully developed they were placed in the NICU at the Foothills Hospital in Calgary Alberta Canada, where they were born. Over the course of the next couple of days we began to notice a few "abnormalties" but quickly put them aside as the issues of prematurity were more prevalent. On their third day of life, the neonatologist brought the genetics team in to take a look at our boys and the rollercoaster ride began.

The broad thumbs, hairy little backs and angulated toes were not something to be so easily dismissed and there was more; small chins, low/rotated ears, flat fingers and a couple of fetal pads, low hairlines, and high, narrow palettes. A week later, several other opinions and the clinical diagnosis of RTS was confirmed with 95% certainty. Had it not been for the support of our family, we probably would have spiraled into total despair at this time. The grief of having one child diagnosed with RTS is powerful, but the reality of having two is phenomenal. With the help of the internet and most importantly our new RTS extended family, we started to put one foot back in front of the other and gather our strenth for the road ahead. At 19 days of age both boys underwent surgery for patent ductus on their hearts. Jake recovered well, but a week later Nick was clinging to life with a severely collapsed lung. The Christmas Angel paid us a visit and Nick recovered. By the week of Christmas our boys were moved out of the NICU to a special care nursery at a hospital closer to our home (Rockyview General Hospital). They were placed into the same crib together for the first time since they were born, and they began to flourish! They began to bottle feed regularly, they were growing at a great speed, and their oxygen requirements were diminishing. 77 days after they were born we packed them into their car seats (oxygen tanks in tow) and brought them home. We have begun the wonderful journey of life with our little guys. There are still moments of sadness and disbelief, but all it takes it sto look at them, and it all washes away. As their older sister Alexandra says.... "Dose are so cute!!!"

The Woelfle's can be reached at bunibrown@aol.com