OUR STORY
LUCY BRUNN
09/07/98
Deletion 13 q21.1 q22.3
Lucy Brunn has a De Novo interstitial deletion on the long arm of Chromosome 13q between bands 21.1 and 22.3.
Lucy is the second child of 4 children Jessica is 9 Charlotte is 4 and Mary is 7 months old
Lucy is 6 she has many life issues and her future is uncertain, she is deaf and has global developmental issues,she has chronic immune system problems ,, chronic reflux,etc.. she has had a nissens fundoplication to help with her reflux and aspiration problems .
Lucy was diagnosed at 3 months old after failure to thrive and feeding difficulties,at the time of diagnoses nothing was known of what can be expected of Lucy , and this is still the case.
Lucy has a small head, low set small ears, wide spaced eyes flat nose bridge,Lazy eye,crooked little fingers, , hypertonia, Heart murmer,chronic respritary disease,, Sensory intergration dysfuntion ,cricopharyngeal impression causing a pharygeal pouch, she also has sleeping difficulties and requires meds to sleep, (although i beg to argue wether they are working at the MOMENT!!)
Lucy uses sign Language to communicate, with a few words, however her languge base is very limited.Lucy has balance and coordination problems which affect all areas.
But all this aside , she is a lovely wee girl who fights to be understood.
Despite not knowing what the Future Holds for Lucy, as a family we believe that she is here for a reason and has paved a pathway for others to follow and opened the hearts and minds of those around her.
GRACIE BUTCHER
05/12/06
Deletion 13q (exact bands unknown)
Gracie is 11 months old and has a complete deletion in 13% of her cells and a partial deletion in 6%. (not sure which bands). She was born with an encephalocele, hydrocephalus, cleft soft palate, severe to profound mixed hearing loss, small ASD, smaller than normal kidneys, underdeveloped hips (casted for 3 months), deformities (small) in her hands and feet and low tone. She is fed through a g-tube for 95% of her nutrition and just recently had a nissen fundoplication done to help with her reflux. She cannot hold her head up, but is doing better about holding it for short spurts. She is involved with PT and OT 1-2 times per week in our home. She is such a sweet little girl although she has her moments when she just likes to be put down. If you get close to her and talk she will talk back. She smiles and loves to lay on her back under her play gym. She currently weighs 14 lbs 7 oz. but she is proportional with her length. If you looked at her and didn't' know her you would just think she was a normal 4 month old. Grace has changed my life in so many ways. I tell people Jacob (my 3 year old son) made me a mother and that was a wonderful gift, but Gracie made me a mom who is aware of what sacrifice is, unconditional love and what a mother is supposed to be.
KYLIE CARLSON
6-8-98
Deletion 13 q14.3 q22
UPDATED May, 2008
Kylie is now a charming 10 year old with quite a sense of humor. She is a fun loving little girl. She loves to dance, play on the computer, with her dolls and cars. She can now ride a big girls bike and scooter with training wheels. Although she physically looks like a 6 year old she thinks like her appropriate age. She is also swimming. She is now 45 inches tall and weighs 35 pounds. Although she was born on time with no complications slightly small with a good Apgar test (8, 8) she failed to meet her milestones which led us down a path for 2 years of doctors of therapy and to find her diagnosis. Her second birthday was a big year for us because they told us her diagnosis and she began to walk!
As of April 9, 2007 she is attending a Special Private School so that she can get all of her therapies in a full motor lab integrated into her school day rather than after school. She was in a mainstreamed class with a full time aide.
Although she has low muscle tone, her main delay right now is fine motor. She doesn’t fall as often as she used to when she runs now.
Her new after school activity is a challenger baseball...
She also received a service dog, Crystal, in July, 06. Crystal helps her by forcing her to use her big girl voice, making choices and teaching her responsiblity. Mom helps Kylie by leading Crystal and giving her the commands for Crystal.
She also is in Junior (Girl Scouts) hoping to continue her socialization skills. This helps maintain/advance her social skills with peers.
We had tried private Karate lessons for a year to help with her focus. It was effective. However, now she is on Adderol (15 mg) for ADD. Without it she simply can’t focus or concentrate. She is blending and reading beginning words. She can count to 100 (almost) and she can add (carry) double digit numbers. All and all we are progressing but it takes a village (and a lot of time)!
ETHAN COOK
04/25/03
Deletion 13q14.1-31.2
We had unexpected infertility issues. After 2.5 years of trying we finally became pregnant with the help of in-vitro fertilization (IVF). In Janaury 2001 we had boy/girl twins, Cameron and Jessica. Unfortunately, we discovered midway in the pregnancy that Jessica had a neural tube defect called an encephalocele. Basically her skull did not close completely at the back of her head, allowing her brain matter to grow outside the skull. They were born by c-section 8 weeks early. Jessica passed away 16 days later due to complications from the encephalocele. Cameron had only the typical preemie issues and has been very healthy ever since.
Two years later, in April 2003, we had another set of fraternal twins, boys this time, conceived through IVF. The pregnancy was fairly typical for twins, I had spotting for the first 20 weeks, but the babies were fine. The only anomoly to note was that Ethan had a 2 vessel umbilical cord.
Braden and Ethan were born 7 weeks early. Braden had no real issues and came home within 2 weeks. Ethan had lots of preemie problems and stayed in the hospital for 5 weeks. He came home bottle fed, but with a known reflux problem. After 3 months his reflux was so bad that we were referred to the High Risk Clinic at Cincinnati Children's Hospital. There we were told that he was aspirating, and he had poor oral motor skills. We started doing feeds with a combination of NG tube and bottle. However, at 4 months Ethan became very ill with vomitting and diarrhea and would no longer eat anything by mouth. We did some testing, including a head MRI for his opthalmologist, and learned that he has polymicrogyria. This is where there are too many folds in areas of the brain. Due to this diagnosis we had genetic testing done and discovered his deletion of 13q from bands 14.1-31.2.
Since those early days we have learned many more diagnosis for Ethan. He has a submucous cleft palate, ear tubes due to chronic ear infections, partial adenoidectomy, underdeveloped brain stem, seizures, apnea, slight tracheal malaysia, 2 failed nissem funcoplications, g-tube, Roux-n-y esophagojejunostomy, blocked esophagus, hietal hernia, inquenal hernia, pyloroplasty, low muscle tone, global delays, retinoblastoma, farsighted, and more. However, Ethan is one of the happiest, most content children I have ever met. He smiles constantly and is easily entertained. His favorite place is laying under his playgym, and he really doesn't like to be held unless it is to play. He cannot sit up unassisted, does not crawl, is non-verbal, and really is at maybe a 10-12 month level at age 2.5. He develops at his own pace, likes to be in control and is sensory sensitive to many stimuli.
Ethan loves his brothers and is very people oriented. His favorite thing to do is grab at your face or hair and try to pull you close. His favorite toy is a marracca that he shakes all day, even in his sleep. He loves to rub it against the right side of his head, and luckily he hasn't worn a bald spot into his head yet :)
My husband and I have no genetic history that would indicate why Ethan's deletion occurred. We take each day one at a time and believe that a day with no fever or pain for Ethan is a good day :) Sometimes these days can run into weeks or months. Then we start all over again with doctors and hopsital stays. However, Ethan is a trooper and seems to bounce back from it all, learning new skills as he goes along. We hope to continue to make his life as positive, healthy, and happy as possible while also trying to maintain a slightly "normal" family life for the rest of our children. Hopefully we can share stories and lessons with other parents of similar children along the way.
AVERY SPONSELLER
01/15/98
Deletion 13 q32-34
UPDATED June, 2008
Avery is now 10 years old. She was born in January 1998 and seemed typical at birth. She weighed 7 lbs 10 oz and was 20 inches long. She did have a very coneshaped head from position before birth but otherwise everything was fine. By the time she was 5 months old, her head circumference was dropping under the usual growth charts and we started to become concerned. Avery went for a few tests but nothing was discovered until we got her genetic diagnosis on her first birthday. The geneticist gave us a grim outlook and could not tell us if Avery would ever walk or talk. With the help of Physical Therapy which she started at 9 months of age, Avery did learn to walk at the age of 2 1/2. She can now walk, run, and even climb stairs! Avery has had a variety of therapies since she was 9 months old. She has had Occupational Therapy to work on fine motor skills and Speech Therapy to work on communication. Avery did start using sign language around 18 months of age. She attended Developmental Day Care when we lived in North Carolina and they used signs with many of the children. When Avery started walking at 2 1/2 she also started talking and now she has a very broad vocabulary. It is so wonderful that she is able to share her thoughts and feelings with us. She talks in small sentences and sometimes gets frustrated trying to get her point across but she is showing us that there are no hard and fast limits with this condition!!
Following the wonderful Developmental Daycare Program, Avery started preschool at the age of 3. She is now going into 5th grade in a Special Education Classroom full-time. She gets some OT and speech therapy at school and also attends OT and speech outside of school. She continues to work on learning the alphabet and numbers. She can sing the alphabet and count to about 20. She is starting to learn to identify letters/numbers so maybe she can learn to read at some point. Avery is also working on holding a pencil and writing letters but she is very shaky when doing fine motor skills. This year I have worked with the local school in getting Avery and her classmates included in art, music, library, gym, recess and read along with another 4th grade class. We have made great progress and Avery even participated in her first Spring Concert and Gym-O-Ree (a school track and field competition.)
Avery is a super-happy, fun-loving child who is full of charisma. She has a way of drawing people to her and her happiness is contagious. Avery loves to run and play with balls--her most favorite is basketball. She loves basketball so much that the color orange is now the color "basketball" in our family!! Avery is also of average height/weight for her age. She is about 51 inches tall and 62 lbs. although her head circumference is the size of an average 7 month old.
From the age of 2 1/2, right before Avery started walking and talking she also started Therapeutic Horseback Riding. She continues to attend a local therapeutic horseback riding program and really learns a lot each summer. Her favorite activity that developed in the last few years is Special Needs Gymnastics that she takes on Saturdays at our local YMCA. This program has really helped her coordination and balance and she just loves it! She even participated in the end of year show this year and received a medal and a trophy! Several years ago, we also bought a full-size trampoline with an enclosure to help Avery with her balance and her balance greatly improved.
Over the years, Avery has also had additional diagnosis' of microcephaly (small head), Cerebral Palsy (due to areas of low and high tone in her muscles), failure to thrive (due to weight loss at 1 year of age), Partial Seizures (controlled by medication), Developmental Delay and now Mental Retardation. She may get 1 or 2 new diagnosis' over the next several years but I look forward to seeing just how far she can advance! She has come so much farther now than was predicted so I have no way of predicting just where she'll be when she is 12,...16,... 21...35...! We will just have to wait and see and keep challenging her to improve her skills!!!
MAYA STAME
12/06/06
mosaic partial deletion of 13th chromosome (about q 14)
UPDATED March, 2008
Maya is quite the toddler. She lets you know exactly what she wants and can be very stubborn. I found out about her chromosome abnormality through amnio at about 23 weeks pregnant. Her genetics councelor didn't know what her future held and because of that, I kept an open mind. She was born at 5 lbs 9 oz two weeks early. She stayed in the NICU for 11 days until she proved she could gain weight. She has had reflux issues and was on Prevacid until she was 13 months old. She has been hospitalized three time. At two months she had a severe kidney/UT infections. At six months and at 13 months she had bronchiolitis and was put on oxygen for her stay. She has glasses for far sightedness and hearing aids for slight hearing loss in her right ear and almost full hearing loss in her left. She has Speech, PT, OT, and DT each once a week. At the moment she is 26 inches and 12 lbs 13 oz. She looks about the size of a six month old. She doesn't talk yet, but says AH and can perform several comands. She eats table food and drinks from a sippy cup since 12 months. Over all, she is a very happy little girl. She loves her 4 year old sister, Nova and her little sister Leah (2 months).
ISA WALTON
Deletion 13 q21.3 q22
Isa at 11 years has an unusual mix of strengths and weaknesses. She is a good dramatic reader, very creative at drawing, and enjoys fantasy pretend play with her brother and a few others. She is very impulsive and has not improved much with stimulant medication, and shows lasps in judgement and understanding of socially appropriate behavior that sometimes lead people to assume she has an autistic or asperger spectrum disorder. She will make loud noises, touch strangers, or fail to respond at all sometimes. I think in some ways she is similair to the nonverbal learning disabilites child and have found tips in books about those children helpful. She is anxious and has trouble sleeping at times but melatonin helps. She does not have much success engaging peers and although the public school felt she was making good progress, I've just this year moved her to a private school, because I'm frustrated with the emphasis on teaching to the test- even when the test seems inappropriate for her. She tends to respect and learn routines fairly well and likes to have quiet time at home.
Thomas is now 5 mos old now and we have him in PT once a week and feeding therapy as needed. He doesn't have any developmental issues that we know of, but he was born with two of the markers for Pierre-Robin sequence. The jaw distraction has worked well, and he's due for cleft palette surgery in about 9 more months.
SATU
Deletion 13q 21-32, balanced translocation 2p3p
07/28/06
UPDATED August, 2008
Satu is our first child. She just turned 2 years old and has 13q (21-32) deletion as well as a balanced translocation between 2p and 3p.
I can hardly believe that she is already 2 years old! It feels like just yesterday when she was born. She was born by emergency c-cection at 36 and a half weeks after an ultrasound that day revealed she was extremely small. She was just 2 and a half pounds when she was born. She spent 2 months in the NICU to grow bigger and get stronger with her feeding.
Satu has come so far in the past two years. She is now about 14.5 pounds. She’s still a little peanut but steadily following her own growth curve. She is delayed in her development but is making progress all the time. She is crawling and cruising like a speeding bullet and has just started to let go and stand for several seconds on her own. She is also taking a couple steps on her own but hasn’t quite got her balance yet. She is also delayed in her speech and language. She is understanding language well, both Finnish and English but she is not saying any words yet. She is babbling and is now learning to use sign language which she is picking up very quickly. She knows between 20-30 signs.
Satu is growing up to be quite the silly, happy toddler. She loves bathtime, trains, car rides, dogs and books. And lately all she wants is to be plunked into the back yard with some dirt and water and she’s in heaven!
LEAH CHARBONEAU
06/05/03
der(13)t(3;13)(q29;q34)
My daughter Leah has a deletion on 13 and an extra piece on 3. Leah is a very friendly, lovable little girl who just turned 5 in June.
Between age 3 and 4 months Leah's pediatrician noticed that her head circumferance had not increased and sent us to a neurologist. Her head size slowly increased from there and is now "on the chart", just at a very low percentile.
Leah had obvious low muscle tone and developmental delay. When she hadn’t rolled over by age 9 months, we got her enrolled in our state’s early intervention program. From age 9 months to 3 years Leah was seen by PT,OT, and then DT & ST. Leah began to crawl around 16 months and walked at 19 months.
At age 17 months we took Leah to see a Developmental Pediatrician & Geneticist. He was incredibly insightful and seem to intuitively know which tests to order based on the physical exam. Her specific anomoly is: der(13)t(3;13)(q29;q34). She has a partial trisomy on chromosome 3 and a partial monosomy on chromosome 13. Basically she has an extra piece on the number 3 chromosome and is missing a piece on the number 13 chromosome. The doctor said that this was good news. I found this really difficult to believe, but he said that this meant that Leah didn't have a degenerative cause of her developmental delay. He said that they couldn't tell us exactly what to expect, but that they knew Leah would continue to progress and that therapy would help. They just couldn't tell us how far Leah will progress.
At age 2 ½ Leah was diagnosed with Juvenille Rheumatoid Arthritis. We have no idea if it’s related to the chromosomal abnormality or not. She’s had some swelling of two joints (right knee and right wrist) on and off over the last 2 ½ years now. Sometimes she needs an anti-inflammatory to help with the pain and inflammation.
Since age 3 she’s been in developmental preschool at the local school. This has been great for her, but she continues to be delayed in speech, fine & gross motor skills and social skills. She continues to have low muscle tone. One of the biggest concerns this causes is stair-way safety. Leah is our youngest and we have now had a baby gate on our stairs for 6 years (her next oldest brother is 6). She’s had some pretty scary falls when the gate was accidentally left open. That said we are thrilled for the mobility she does have. She is almost able to run now. She can definitely walk REALLY fast.
As far as speech, Leah has been diagnosed with “Childhood Apraxia of Speech”. This means Leah has difficulty with the motor planning that is required to make sounds. It takes a huge amount of work to get her to say seemingly easy words. Sometimes she’ll put two words together, but generally the more words she says in a row, the less intelligible they are.
At age 5 we are finally having some potty training success. I have confidence that she will be entirely potty trained soon, hopefully by this fall when she is entering Developmental Kindergarten .
So we don't know what's in store for Leah, but we do know that she's an awesome, lovable, amazing girl. She is shy around no one and all who meet her are enamored with her.
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