Malik Allen
04/02/07
Deletion 46 XY Del(13) (q33.2)
New October, 2012
I had a textbook pregnancy with Malik. The only worry we had was that an ultrasound scan showed an echogenic focus which I was told always meant nothing on its own. This time it did mean something...
Malik was born ten days overdue and was 7.44 lbs which is quite light in weight for our pacific island family especially since I put on 37kgs with him LOL. Malik was born 'floppy' and required CPR as he was not breathing for his first six minutes of life. Malik had small genetalia and his testes had not descended. We stayed in the Neonatal Ward for a week as he required oxygen and had blood tests to rule out any deseases that he may have that were linked to undescended testes. The blood tests taken were bad quality and did not show any deletion.
Over the months, I noticed that Malik was not meeting the 'normal' baby milestones and I also noticed that his head was much smaller than the average baby. His head circumference dropped off the chart for the New Zealand boy's head growth. So I asked his endocrinologist if he could do some tests. We had some blood tests done and it was only diagnosed that Malik had a 13q Deletion when he was about 9 months old. His father and I then got tested to see if one of us had a balanced translocation but we were 'normal'. Malik's disorder was sporadic.
Malik has always slept well, he breastfed well and eats well. He loves fruit!! He does get a bit of reflux though, especially when he eats leafy vegetables like cabbage or things like fruit in yoghurt.
Malik suffers from constipation now and then which we control by ensuring that he drinks plenty of water and sometimes we offer him a movichol sachet or some lactulose to assist when its bad.
Malik had very bad eczema and got quite weezy when he was a baby and was hospitalised three times. His eczema isnt too bad now as we apply lotions and creams to keep his skin under control.
Just before Malik turned five in April 12, the results of a test indicated that Malik's intellectual abilites were within the 12-18 month level. His motor skills were around the 18-24 month level. The doctors said that there was a chance that Malik was autistic but that they couldnt diagnose until he was at least seven years old. It doesnt really make a difference to us what he has and what he doesnt have, we are just going with the flow with our little boy and taking each day as it comes.
Malik has a seven year old half sister and he has a two year old brother Ala who are both 'normal'. We moved from New Zealand to Brisbane, Australia two months ago in August and Malik goes to a special primary school which caters for children who have all types of intellectual and physical disabilities from the age of five to eleven. He is in a class of five and there is two teachers with two teacher aids looking after them. In New Zealand he required a dedicated fulltime teacher aid at a 'middle school' which is a special needs unit of a mainstream primary school.
Malik looks like a normal five year old kid. He is above average and weight for his age. Communication is difficult as he can not speak many words yet but we understand what he needs as he points to things and grabs your hand and takes you to things. He can only sound out the first syllabal of a word and can say Ma (Mum) Da (Dad) Ba (Barney - the purple dinosaur) & Ala (his little brother). Malik is learning off his two year old brother who can speak both Samoan and English very well.
Malik doesnt have many physical disabilites. He walks well most of the time but is a bit clumsy when he is not paying attention and falls down often. Malik's balance is improving but he has a bit of a gait in his walk. The physio says that he has low muscle tone in his legs which prevents him from standing up straight. He only started jumping when he was about four. He crawled when he was almost two and then a couple of months after, he started walking. Malik had an orchidopexy laproscopic surgery to bring his testes down when he was about two. The testes are small but they are there:)
Malik is still in nappies but does enjoy trying the toilet out when we put him on there each day. He doesnt really go there on his own. He does his business but only tells us afterwards by pointing top his nappy. He only tells us when he does number twos but not number ones.
Malik is a happy boy who is very affectionate and sensitive to things like people who are upset. If he sees someone crying, he too cries and tries to see what is going on. Malik does not like very busy places and loud things or flashing lights. Malik has no concept of persoanl space, he is very friendly and will go right up to you which can make strangers uncomfortable at times.
Malik can be very rough with his little brother so we need to keep an eye on him 24/7. Malik can be quite aggressive when he is frustrated with new environments and 'out of routine' situations. He has pulled hair since he was a baby and is very strong and getting stronger so I can not take both him and his younger brother out on my own.
He loves watching Barney the Dinosaur and has a Barney soft toy who he likes to dress up in a hat, scarf and socks with our assistance. He likes to rip little pieces of plastic which he twirls and holds in his hand for hours.
We wouldnt change our little man for anything, he is a caring, happy and funny little boy who brings joy to our lives everyday:)
LUCY BRUNN
09/07/98
Deletion 13 q21.1 q22.3
Lucy Brunn is now almost 10 I cannot believe how the time has flown. This year Lucy has become totally toilet trained. Lucy is learning sign language and still speaks in 1 to 3 word sentences.
Lucy is very active all day she can do great cartwheels and loves to dance. One of her favourite activities is also watching movies, she now has a TV in her room with her own Play station DVD player that she can fully control on her own, she doesn’t use it all the time, but it is great we she needs to be calmed.
Everything else for Lucy is the same she is still very active and can be very aggressive; she is very strong willed and can pack a good punch.
She is working on recognising emotions and explaining feelings at the moment.
Lucy really enjoys going to School and is in a mainstream class fully supported by a teacher aid.
She has made some academic progress but it is clear our learning angle needs to be in the context of everyday life.
Lucy is a 2nd of 4 daughters and h8olds a very treasured place in our family we think she is amazing.
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 q21.1 - 31.1 (Changed deletion diagnosed with Microarray)
UPDATED February, 2014
Our little peanut Kylie Carlson, born June 8, 1998, is now almost 16. Born 2 weeks early because the doctor was concerned she wasn't thriving. Her Apgar tests were normal. However, we found out she hadn't stopped growing it was just that she was growing slowly because of her disorder. When Kylie wasn't hitting her milestones we sought help at the age of 9 months. After seeing every doctor possible, Genetics was our last specialist. Although we were told by the doctor that she didn't anticipate finding anything, they proceeded with a Genetics test. 2 weeks later I was called by the doctor to tell me that remarkably Kylie had Chromosome Deletion 13 and was missing the band of the arm of the chromosome of q14.3 - q22. The internet was just beginning to be a powerhouse tool at that time. However, finding information on this order was almost impossible. 2 years later I stated a website for chromosome deletion 13 so that others could find us. There is strength in numbers!
For the next few years it was all about therapy. Kylie didn't ever crawl and walked at the age of 2 ½. . Not crawling ended up being a real delay for other important skills in life. Kylie didn't understand gravity and couldn't do basic skills like skipping, jumping jacks or crossing the body midline. With her low muscle tone we were trying everything from PT, private gym classes and Karate (as she got older) for focus. A challenging part of Chromosome Deletion 13, is that for most of the children, they grow very slowly. Even now - Kylie is 14 and just hitting 59 pounds and 53 inches and just barely eligible to get out of car seat.
When she was a toddler there were always unexplained things she would do I never understood. She would line up cars in a straight row while playing. She would grind her teeth. She would "collect" rocks and sticks on the school yard. She would cringe at the sound of loud noises. After an evaluation with a specialist we found out she had OCD and sensory issues. Most likely her nervous system was compromised by her loss in the band of chromosome 13 - which now was just reevaluated and found out she is actually missing q21.1 - 31.1. The science of determining millions of DNA is a very difficult thing to diagnose we have found out.
We are currently trying medication in combination with therapy to help with this but it is a struggle. Because of her OCD, she hoards everything, paper, food, toothbrushes - it is unlimited. Also because of her nervous system being sensitive she is anxious. She used to rub holes in her clothing becaus her nervous system was taxed. We think she has outgrown that now. She also has trouble reading because she can't track letters and words. Academics don't come easy for her because of all of her challenges. She now has a hearing aide in one ear.
Her speech has a nasal sound to it - almost like a toddler. We have been to dozens of specialists but we are still perplexed why. She has speech therapy in school for this.
We are very thankful that she hasn't shown any signs of seizures or many other medical issues. She has an amazing sense of humor and has a passion for animals and helping them medically.
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 :)
AVERY SPONSELLER
01/15/98
Deletion 13 q32-34
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)
I found out during my 20 week ultrasound that something wasn't quite right with my baby. She had a single umbilical artery, extra nucal fluid, and a missing right kidney. The high risk doctor was out of town so I went a few weeks later to see him. An amniocentisis was done. A few weeks later the doctor called me at work to tell me she had some missing chromosome and the rest had formed a ring. Atleast thats what I heard. The genetics councelor and the high risk dictor had never seen this type of deletion before and really couldnt tell me what to expect.
She ended up having IUGR so I was induced at 38 weeks. Maya was born on December 6, 2006. She was 5lbs 9oz and 17 3/4 inches long. Since I knew about her deletion, she went to the NICU after a few minutes. During her 11 day stay, they doctors checked her out. Her deletion is mosaic ring 13(p13q12). They tested 200 cells and 23 came back with the deletion. She could maintain her temp, breath on her own, and keep her heart rate steady. She had both kidneys and her brain was normal. She had bilateral hypoplastic thumbs. She did feed slow and was slow to gain weight.
When at home she ended up having bad reflux but that was resolved when she started table foods at a year. Feeding wise, she ate solids on time and drank from a sippy cup at ten months. She can now feed herself with utencils and use an open cup.
She has spent a few days in the hospital for a UTI infection at 2 months and then bronchiolitis at 5 and 13 months. She had eye muscle surgury at 14 months and then a two part hand surgery at 2 years to fix her thumb.
She has glasses and a hearing aid. She is nearsighted and also gets regular checks for retinablastoma at her opthomologist. She is deaf in her left ear and has a mild loss in her right. She is also short stature but has been taking growth hormones since she was 2 years old. She now is the size of a small 4 year old.
She sat up at 8 months. Rolled over from belly to back at 6 months and back to belly at 18 months. She crawled an army crawl at 18 months then on hands and knees at 2 years. She started cruising and pulling up at 2 1/2 years and walked at 3 1/2 years. She was potty trained right before her 5th birthday. She babbles and said a few words. She uses gestures to get her point across.
She is in full day kindergarden with an aid in the morning and participating in a deaf/hard of hearing class in the afternoon. She is the second of four children and loves her brother and sister. She is very sassy and stubborn which has gotten her far. I always push her to do her best.
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.
SATU KUISMA
Deletion 13q 21-32, balanced translocation 2p3p
07/28/06
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!
ALESSIA DIAMANTE
12/02/05
13q21.33-q22.2
She was borned after 38 weeks (Cesarean delivery), her weight about 5 1/2 lb (2,7 kilos). The Amnio didn't detect the anomaly. Alessia had hard time keeping the head up. The brest feeding also was very difficult.
Alessia was resting longer then usual. She was able to sit upright after 15 months.
Alessia was walking just about after 30 months without any help. The discovery of the "problem" aftery 12 months was followed by the immediate therapy recommended by the doctors.
Alessia is now (twice a week) following specific exercises in the pool to improve the her shoulders. She has a big appetite and does not gain excess weight.
She always very happy smyling and socializing with immediate family members and other children. Her sister Serena is very healty and very intelligent. We would like to know and share our life and the progress
of our child with you.
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.
ADAM JAMES FOX
11-10-05
13 q33qter which is 13q33-34
CHRISTOPHER WITT
12-26-02
13q21.1
New October, 2012
Chris was a BIG baby..9lbs 13oz. The nurse had to push on my stomach to get him out...broke his collar bone in the process. Chris was non-responsive after birth. He would not cry or eat or anything. They put him on oxygen shortly after birth. 2 days later they transferred him to a nearby hospital to the NICU. He spent 7 days there. The doctors did all sorts of lab tests but did not find anything wrong. Chris finally started responding some when they stuck the needle in his back to check his spinal fluid. At that time the doctors said it was all due to the meds they had given me to lower my blood pressure.
After Chris came home from the hospital he still didn't repond much for several weeks. Doctors said it was from his broke collar bone, that he "just didn't want to do anything because of the pain". Chris also had severe reflux and he would frequently choke and I would have to suction out his mouth and throat.
As Chris grew most of his development was just slightly behind in most areas. He did not babble as a baby at all. Started speaking words when he was almost 3. He had severe articulation problems. By age 4 family members could still not understand him. He had almost 3 years of formal speech therapy. He made more progress at home with me. At 9yrs, we can finally understand him "most" of the time.
Chris has severe dyslexia. He still is not reading. We are working on phonics this year. He is finally able to understand and say the sounds.
Chris has some problems with agression, but overall he is a sweet, loving boy. He loves to play with his siblings (we have 7 kids...6 still at home).
We just sought out help this year. Just learned of his deletion a couple of weeks ago actually. So this is all new to us. Our 1st appointment with Genetics is Dec. 9.
