Bennett

Age: 2yrs 7mos 
Duplication: 46, XY,der(7)t(4;7)(p15.1;p22.3) de novo 
Lives in: California (Northern), USA 

Bennett came into this world on a hot August day in Dubai, UAE. It was a planned cesarian and nothing out of the ordinary rang alarm bells. We had a precious little boy with a ‘quirky’ newborn cry. Over the course of the five days in the hospital things seemed to be going as well as could be expected for second-time parents bumbling over a baby trying to remember/figure out the whole newborn stage...again. 

In retrospect, our initial observations should have alerted us, and the numerous pediatricians that cycled through on scheduled rounds, that Bennett was an unique individual. First, B was smaller than either my husband or I had expected. My OB kept insisting that B was measuring up to be a big baby, so Eric and I were quite surprised and a little concerned when B came out at only 6 pounds 3 ounces. Second was the cry. I know each baby has its own sound, but Bennett’s cry just sounded a little off, for lack of a better term, and panicked. Next was Bennett’s eyes. They were going in opposite directions. Then there was the sacral dimple. The feet were normal except for the big left toe, it sort of curled over the toe next to it. Finally was the breath holding. B was breath holding and turning blue when too upset, which infants should not be doing. 

 On the other hand, so many aspects seemed to be going right. Bennett was a little jaundiced, but he only needed the absolute minimum UV therapy to overcome. He was latching and feeding well. Dozens of nurses and several pediatricians, including my older son’s two pediatricians, inspected, observed, took stats and all agreed he was a thriving newborn with just a couple of quirks. 

We moved back to the states when Bennett was just 8 weeks old. My older son’s first pediatrician in Colorado, whom I absolutely loved and trusted implicitly, saw Bennett and agreed with the assessment of the other docs back in Dubai; Bennett had some quirks, but they weren’t a big deal. The eyes would eventually come together. The toe could be fixed if he didn’t grow out of it and the sacral dimple was small and unconcerning. The one aspect that the doctor did home in on immediately was Bennett’s sensory issues. She felt that he seemed uncomfortable as well as tense and that he would benefit from either Craniosacral Therapy (CS) or Occupational Therapy. I went to see the CS therapist that I had taken my older son to and saw an immediate improvement in Bennett. He seemed more relaxed and happy. He was also still hitting the necessary milestones. The only issue he was having at this point was ear infections. Bennett developed his first infection at 2 weeks and kept getting them despite the fact that I was breast feeding. The frequent ear infections resulted in repeated failed hearing tests. 

We finally moved and permanently settled in Northern California when Bennett was four months old. The new pediatrician I found for the boys again confirmed that Bennett was thriving. She did refer me to a ophthalmologist to see about the eyes only because I pressed the issue. It is at this time when the proverbial can of worms opened. 

From the time Bennett was six months thru ten months, we saw a slew of specialists: two ophthalmologists, two orthopedists, an endocrinologist, an ENT, we started PT and OT, saw an urologist, hearing specialists and two neurologists. Most of the specialists were referred to me because I pressed for them,while others were referred by another doc. Most of the doctors saw no reason to be concerned as subsequent tests and examinations didn’t show anything obvious...he just had some unique physical traits. The developmental delays I was starting to see weren’t technically delays at this point so the docs weren’t particularly concerned. Finally, the second orthopedist and second neurologist, banded together and ordered tests that they felt were overkill, but considering the fact that B was getting further behind developmentally and that we had seen so many specialists up to this point, they finally agreed to extensive blood work and a head and spine MRI. 

It was exactly two weeks before Bennett turned one that our - mine, Eric’s, Lincoln’s and Bennett’s - world would be turned topsy turvy. The MRI came back great. The blood work, on the other hand, showed that Bennett had Trisomy 4P. What did that mean? The neurologist tried to be as helpful as possible, but all she could provide were statistics indicating that it was such a rare chromosomal syndrome fewer than 100 known cases existed. Any other information was virtually nonexistent.

  
The lack of information provided to us at the time was a blessing and a curse. We were free to help Bennett chart unknown territory without having the burden of really knowing the potential negative side effects. We could focus solely on the positive: with hard work and early intervention and Bennett’s determined personality, he could over come obstacles and conquer his world. 

Today Bennett is thriving. The tubes in the ears stopped the chronic infections and he finally passed a hearing test. The eyes mostly corrected themselves, but his left is apt to stray outward when he is tired or unfocused. We operated on the toe, which turned out to be a deformed toe joint, and he immediately seemed more at ease putting pressure on his feet. We regularly see our neurologist, orthopedist, ophthalmologist and geneticist. We may need to revisit the endocrinologist in the future, but for now there is no need. 

Our week is comprised of physical, speech, oral motor/feeding, cognitive and occupational therapies. Often times he is wearing his TheraTogs suit, which helps with his sensory processing disorder. He is still severely delayed in speech and gross motor skills, but he is able to eat more and more on his own and he is on the cusp of walking. Signing, fortunately and unfortunately, is his main way of communicating. He is now able to motor plan so well that he picks up signs quite fast, but I personally believe that it is hindering his desire to communicate verbally. His ability to listen and follow directions is about as good as any two year old. The skills he has acquired and is still trying to master don't come easily and it is always a huge accomplishment with a big celebration when he hits a milestone. 

Bennett loves going to his daycare/preschool two days a week. I believe being in a regular environment with other children has helped him tremendously in achieving his milestones. The therapists help cultivate the motor planning, but being surrounded other kids provides him with the opportunity to observe and copy in a more natural manner. Cars, trains, trucks and dogs are his absolute delight. Big brother Lincoln is by far B’s favorite person, with mom and dad closely following. Bennett’s laughter lights up the room and his smile is infectious. 

I don’t know what the future holds for Bennett, but I know that with his drive and absolute lovable nature, he will succeed at whatever he puts his mind to and he will be happy and will continue to bring happiness to all those fortunate enough to know him.

Tegan

Age: 18 yrs 11 mos old
Duplication : 46,XY,rec(4)dup(4p)inv(4)(p12q35)
Lives in: Idaho, USA

After reading all the highlights it brings me happiness to introduce you to our bubba whom I believe is one of the oldest 4p friend in this beautiful group of angels. I am not going to be able to give exact ages because let me tell you it’s been a LONG 19 years and some of it is simply a blur. However, it is 19 years that we would never give back. Tegan is the 2nd of three children he came into the world after a normal pregnancy without any complications at a small 5lbs 12oz 19 inches long. Hey was in the nursery for what seemed to be a very long time from what I remembered from my first baby, then the nurse came to me and wanted to know if I was going to come down and see and hold my baby, now wait, just 2 ½ years ago they brought my baby to me I was confused, “oh didn’t you know we were waiting for the life flight team he is being flown out his breathing isn’t quite right.” I went there to hold him I remember him not looking quite right to me you know the gut feeling mothers have he looked like a squished old man face with his low set ears, small flat bridged nose, asymmetrical cry (reminded me of Sylvester Stallone in Rocky when he hollers for Adriane). Light flight got there and gave me the thirty questions all of which made me feel like a terrible mother and guilty for why my baby wasn’t breathing right, (did you do drugs, drink or smoke did you see a doctor for your entire pregnancy did you eat right were you stressed blah blah blah) no I took care of myself and my baby. 

He spent 1 week in NICU and they sent us home with an apneic monitor and oxygen tank and we were told he holds his breath like a two year old throwing a tantrum (later to find out he really has tracheomalacia and his trachea collapses when he cries causing him to turn blue and pass out then relax enough to pink up and start breathing again). I do remember a time when they were coding him and Mark and I found the closest room to slip into it was dark and crowded we cried and prayed OUT LOUD for God’s help for our tiny little baby. Once we collected ourselves and found a light switch we discovered we have slipped into the utility storage closet among boxes of papers and janitorial equipment but at the time we just needed a place to cry and pray and it worked for us. We took our baby home he continued to turn blue and pass out anytime he cried so we didn’t let him cry much. 

He was about 18mos old when his soft spots calcified and I asked our local MD about it he said that usually doesn’t happen and he sent us to a neurologist at Primary Children’s that was one of the longest days of our lives, the neurologist told us that he checked out okay but we needed to see a cardiologist so they sent us down the hall after a long wait there they did lots of tests and said her had a coarctation of the descending aorta that wasn’t causing issues at this time but needed to be watched as he grew(he has never needed heart surgery it grew with him), but the cardiologist thought we needed to see a geneticist and sent us again down the hall we waited again because mind you they all worked us into their schedules our geneticist walked in and instantly rambled off some syndrome he thought we had. He examined his tiny hands very closely looked at his little pudgy rocker bottom feet talked about widespread nipples his low set ears that were cupped like ice-cream scoops. He said we needed to do some further testing to know for sure. After a long wait we got a call that said Tegan has 4p trisomy syndrome and we needed to come back to the children’s hospital for further testing. We were told 75 documented cases in the world were recorded and that they were uncertain if he would ever talk or walk and we were sent home. 

  
So, determined that he would not be given any special treatments and we would advocate and fight to get him everything he needed to succeed. Thank goodness for early intervention and lots of therapists both in our home and at centers were we took him and he proved them all wrong. He scooted on his bum instead of crawling, then he not only walked but he ran, not so much now as his severe scoliosis and 2 bad hips that have legg-calve perthes disease in them slow him down some, he has a very high pain tolerance. He started out with some sign language and eventually replaced them with words and now he has a large vocabulary (sometimes he can be caught teaching his other special needs cousin signs haha). He has coloboma in his left eye, had 4 sets of tubes in his ears and still has chronic ear infections, and had his tonsils and adenoids out, he has developed asthma and gets frequent heart burn. He chokes on his food frequently and I thought maybe it had to do with his terrible crooked teeth that maybe he wasn’t chewing his food good enough so he had braces on his teeth boy that was a rodeo! He still chokes even after having straight teeth. 

Other than that he isn’t on any regular medications. He gets pool therapy weekly to stretch his muscles and help his hips and back. He graduated from high school in 2014 and walked the line with his class a HUGE accomplishment for us all. He is still attending high school (we call it college) this year as a “super senior” but he is really over it and ready to move on. He rides a three wheeled bike all around our sidewalks, he has a motorized 4wheeler which gave him the most freedom ever in his life because it’s his very own he makes the rules for it rides it BY HIMSELF and has the say if anyone else gets to ride it (which is usually never). 

He loves camping, ambulances, fire trucks, police cars, school buses, vacuums, tools (we have to hide them he is very destructive, I mean helpful) WalMart is his favorite store, his IPAD and Iphone5s (he runs them like a pro). He has a tattered tiny little bear named “Gundy” that he will move mountains for and never wants to be grounded from him, he is found in most pictures of Tegan for the past 11 years look closely you will see him either an arm or head or leg peeking from a pocket or just lying close by. He loves the movie series Emergency and often roles plays it with his dad. Root beer, Reeces, and cheese pizza are his favorite foods and he wants to work at Ace Hardware. He has more friends and acquaintances than me I can’t take him anywhere that someone does know him and he leaves a lasting impression on everyone he meets. He also knows no stranger and hugs anyone and everyone. If he has his mind set on something there is no changing it.

 He has participated in Special Olympics and has multiple medals to show for it, and played baseball for years. He has a sensory need he fulfills by shaking my arm vigorously and only mine… He has stopped growing at a whopping 4’ 10” so he still passes as 10 at the movies. We have just become a Certified Family Home so we can keep our son in our home now that he is an adult, we are working on MY Choice My Voice self-direct services and being creative coming up with things for him to do in the community and hiring people to work with him. And last but not least we are applying for guardianship of our own son, even though we have raised him all his life, we have to become his guardians so something doesn’t happen to him or the state can’t take him, all things to look forward to with adulthood. He has been a blessing to our family taught us unconditional love, he has taught our other children to love everybody for who they are. My husband and I have come to realize that our retirement will be different than most. 

If I could have advice for any of you it would be to hold strong always advocate and don’t let anyone back you into a corner when it comes to what you want for your special needs child they need you to be their voice and muscles for what they deserve. And also if you have other children don’t get so caught up in your special needs life you forget them because they need their special times too trust me time flies and next thing you know they are 21 and 14 and you are going wow how did that happen.

Molly

Age: 8
Duplication: 46,XX,psu idic(4)(q13.1),der(22)t(4,22)(q13.1;p13)[20]dn
                     46,xx,r(4)(::p16.1->q13.1::q13.1->q11),der(22)t(4;22)(q13.1;p13)[14]dn
Lives in: London, UK

Meet Molly, our beautiful daughter, our inspiration. Molly is a very happy social girl who loves her younger brothers, her grandparents and her friends very much. Her strength, determination and bravery is incredible. 

Molly’s journey from birth to today has been a joyful one, filled with lots of love, laughter and strength. But also filled with tears, apprehension and lots of appointments! 
We suspected something was not quite right, with Molly, from her first scan, when her nuchal fold was outside of the normal range, but subsequent scans, which focused on Down’s syndrome suggested that the risk of this was low. She was a very small baby, with a small head and her coordination lagged behind her peers. However we only got a diagnosis when she was six months old - A unique complex chromosome disorder, involving chromosome 4 and 22 is the simplest way of explaining.

There was a long delay between Molly’s blood test and receiving the test results – as the hospital lost the results. This time of uncertainty was possibly the most stressful period. Once we knew, we went through a very brief period of severe anxiety about what the future may hold, but this was rapidly replaced by a sense of purpose to nurture, support and provide for her to the best as we can.
In some ways, not knowing how Molly will develop can be a good thing – preventing us from putting pre-conceived restrictions on her. 

Molly, through her sheer determination, has come on leaps and bounds. When we met with the geneticist’s team, they were amazed to see a smiling six month old baby sitting on my lap, looking very alert. And she continues to defy science - they did not expect Molly to walk or talk. And here we are at eight years of age with her able to have a conversation with me, albeit not the longest or clearest, walk to the shops holding my hand, feed herself breakfast and now she is learning to spell three letter words. 

But of course the road to here has been far from easy. Molly’s main health issue is her refluxing into her lungs. This has been ongoing since she was a baby but only discovered after the fourth hospitalisation for severe pneumonia, around age 3. The first time she was admitted into hospital was just after her first birthday. She has been in hospital for pneumonia seven times and has had two lung lavages to clear out the infections in her lungs. She is under the care of consultants in London and investigations are still on going to see what the cause of her reflux is.

Molly still has significant issues to overcome. She can be very difficult when frustrated or cross (although her stubbornness may be hereditary rather than related to her condition!). She is very sensory seeking - unexpected noises frighten her and absolutely everything goes in her mouth. She is also over attached to her mum and brothers. She has no sense of danger, is incredibly curious and doesn’t recognize boundaries – so you cannot take your eyes off her for a minute. She doesn’t sleep very much. 
But we always try to focus on Molly’s achievements and how far she has come. For example: Molly staring making cooing noises one weekend, at 3 months, and then there was nothing for 2 years. However now she can tell me who was at school and what she would like to do. It took Molly one year to learn the sign “more” (there were tears of joy) and there is no stopping her now – she knows more than me! Molly did not like making eye contact when she was a baby. It was very difficult if you are trying to engage and teach her things. I remember in the early days laying on the floor as she sat playing trying to get some sort of eye contact with her, and now she loves looking at people and loves having her picture taken. Molly began walking just before she was two, following lots of physiotherapy and with the help of adapted shoes. She now walks just fine – albeit with a slightly unusual gait. 

We are not only blessed to have Molly, but also have two sons (4 & 6 years old). Molly loves her brothers deeply and shows great concern when they are not around. The boys make us very proud the way they are both deal with Molly and support her. They have a tremendous sense of responsibility for her and are always keeping an eye out for her to make sure she is safe.  
Yes life, at times, can be very hard, but we are so grateful for the amazing support our wonderful family, friends and community give us. We are truly blessed.

Riley

Age: 12

Duplication: 46,XY,der(20)t(4;20)(p16.1;p13)mat

Lives in: Minneapolis, Minnesota, USA

Riley was born Dec. 13, 2002—five weeks ahead of his due date. Despite the early arrival, he was a healthy and seemingly typical infant. But after seven months, he started losing some skills (grasping a bottle, for example). And when he was sleepy, his eyes made a disconcerting rolling motion. An EEG revealed he was having infantile spasms, a type of seizure. We began injecting him daily with ACTH (a steroid). We had to give the shots for 12 weeks, but after the first 6 days, the spasms stopped. He’s had no seizures since.

From there, Riley began physical, occupational and speech therapy (which he’s continued throughout most of his life). He developed skills slowly, but consistently made progress. He sat up and crawled a little later than most kids do. He walked at 2 ½. During this period, we wondered if Riley might have a genetic disorder. A decade earlier, we discovered Jennifer has a balanced chromosome translocation. Back then, specialists told us that if a baby had an unbalanced translocation, the pregnancy would almost certainly end in miscarriage. In the unlikely event it went full-term, they said, the child would have obvious, severe birth defects from day one. Riley’s doctors in 2003 seemed to agree. When we asked about genetic testing, they said, no, Riley’s issues weren’t likely the result of a translocation. 

So it wasn’t until Riley was 3—and Jen was pregnant again—that a genetic counselor suggested he get tested. Sure enough, the results showed an unbalanced chromosome translocation: partial trisomy 4p, with partial monosomy 20p.

Today, Riley is 12. He’s a gentle soul who grins often, loves to laugh, and literally skips from place to place. His passions (some might say obsessions …) include trains, buses, fire alarms, ceiling fans, padlocks, parrots and elevators. He loves exploring these topics out in the world—and on his computer and iPad.

He has some motor skill deficits. He takes stairs gingerly. He enjoys running, but with an awkward gait. Oral motor planning is particularly difficult, so eating is a big everyday challenge. His tongue can’t easily manipulate food in his mouth, which makes chewing nearly impossible. That means he must take in food that’s moist and ready to swallow. He eats a lot of pasta (mostly macaroni and cheese—about the only item on a typical restaurant menu he can order), plus mashed potatoes and vegetables, ground meat, oatmeal, scrambled eggs, and pancakes. He’s had years of feeding therapy, which has led to some gains—but he’s still a long ways from biting into a burger. Poor oral motor control used to cause excessive drooling, too, but Riley controls that pretty well now, unless he’s facing downward and concentrating on a book or the iPad.

Riley also has difficulties related to his vestibular system, which affects body movement and balance. He gets quite anxious in certain positions and on unsteady surfaces. For a long time, lying on his back caused outright panic. But after focusing on that in occupational therapy a few years ago, one day we walked into the living room and found him reclined on the couch. It was a shocking milestone!

Socialization also causes anxiety. At times, Riley reminds us of the old Warner Brothers animated frog who sings and dances for the man that finds him, but sits silently whenever he’s given an audience. With a few select people—us and a handful of other close adults—Riley freely engages in long (sometimes repetitive) conversations. But among others—especially kids—he’s nearly silent, often turning away if someone greets him or poses a question. In recent years, he’s become better about nonverbal interaction: a wave or a handshake here; a high-five or a thumbs-up there. And Riley does enjoy many group settings. He’ll enthusiastically clap and perform hand motions during a school assembly; he’ll giggle with classmates when a student does something funny.

Currently, Riley is in an autism program at a public middle school. (He also has a medical autism diagnosis.) He reads and spells well, and his memory for facts is impressive. (He can name nearly every state capitol, thanks to his Stack the States app.) Answering questions that require interpretation or inference, however, is tougher. And math is a significant challenge.

Handwriting is also difficult, but he’s proficient with a keyboard. Sometimes, he surprises Scott at work with a text message from Jen’s phone explaining that he had a fire drill at school or bought a Matchbox fire truck at Target.

At home, Riley is increasingly playful with his siblings (Annabel, 8, and Sawyer, 5), neither of whom have special needs. He likes being outside, especially riding his bike (a standard 2-wheeler with training wheels) and fishing. This year, he joined a Special Olympics basketball team, which has been a great experience. He’s improved some athletic skills and handled other aspects of the program—following directions; the fast pace of the game—very well. 

On weekends, he’s happiest on outings to anywhere train-related: model train shows, light rail rides, historic depots, etc. He also enjoys time with his grandparents—Grandma Mary Claire and Grandma Fran and Grandpa Doug. 

As he enters adolescence, we don’t know what the future holds for our oldest son. But we’re lucky to be there at his side. Riley is a sweet, charming, affectionate guy who teaches us a great deal and contributes enormously to our family. We can’t imagine life without him!