Hadley was born January 19, 2010. She was the most beautiful baby I had ever seen. Even the pediatrician who checked her at the hospital deemed her as “perfect.”

However, at about three weeks old, Hadley started screaming. She also started refusing to eat, and as a result, she had great difficulty gaining weight. Her first year was filled with doctor appointments and invasive tests.

But mostly it was filled with screaming. Everyone kept telling me that I needed a break. That I needed to get away. But Hadley screamed the most horrific, pain-filled screams you could ever imagine. I didn’t need a break, my daughter needed relief. And no one would listen to us.

By the age of one, Hadley had been diagnosed with Gastroesophageal reflux disease (GERD), failure to thrive, constipation and food intolerances. It was stressed upon me that she would grow out of everything. At each appointment, we were told another age when Hadley would miraculously “grow out of” her symptoms. All of my concerns fell upon deaf ears and the only thing that mattered was the scale. When her weight was good, I was told I was overreacting. When her weight was poor, I was told to prepare myself for Hadley to have a feeding tube. We rode the weight roller coaster for three agonizing years.

There was a time that she was taking six prescription medications a day, but we were continuously told there was nothing wrong.

At 17 months, Hadley had a grand mal seizure. After three days in the hospital, no one could tell us why. Hadley also became more and more delayed in her development as well as started showing new symptoms like behavioral issues, and at times, she would begin self-harming.

I began taking Hadley to any specialist I could think of: endocrinology, allergy, genetics. I had to insist on these visits and was even told I would be wasting my time. However, when going to these different doctors, they expressed significant concern and validated my fears.

Our answer finally came with genetics. Hadley has 16p11.2 microdeletion syndrome.

Hadley will always have a tougher road than most. Unfortunately, since there is such little research with rare and genetic diseases, we have very little knowledge about what Hadley’s future will hold. But in spite of all of her struggles, Hadley is the brightest, most strong willed and loving child I know. She brightens the lives of every person she meets, and I know she has a strong purpose in this world.

25 thoughts on “With 16p11.2 Microdeletion Syndrome, Hadley Hopes for a Bright Future”

  1. JenM says:

    She IS a very beautiful and smart little girl! I am so glad you stuck in there and got down to the bottom of her difficulties. Thank you for sharing your daughter’s story. It is so inspiring to others.

  2. Kelly says:

    My son also has 16p11.2 microdeletion syndrome. He was five before we finally got approval for genetic testing. That was around the same time that he began to talk. At six he can now speak in short sentences with about 50 percent intelligibility. I know that does not sound like much, but when he began speech therapy (apraxia targeted therapy) at 2 1/2 he had only two words, mama and coa coa. The rest was grunting and shrieking until he was four. At that point he had about 4 words and 12 approximations. The progress was slow, but at this point he can communicate verbally and we are thrilled. We was nearly two when he began to walk. He self injured, had pica, and hit all milestones late, if at all. He has sensory issues and autism traits, but the jury has always been out on whether or not he has autism. PDDnos with ADHD seems to be the best diagnosis for the behavioral aspects. He is cognitively impaired but has splinter skills, particularly with computers. He is also visually impaired, but not blind. Despite everything he works very hard, and improves each and every day. We do not know how much of his challenges are related to the 16p11.2 microdeletion and how much, if any, is related to another less understood smaller area of deletion on his 14th chromosome, but regardless of the cause he continues to progress. Even his seizures are well controlled by medication.
    I am writing this to tell you, that each child with this disorder is a little bit different, but each family goes through much of the same thing. We all hope for better for our child while carrying fear of the unknown. Hang in there. Even my son’s seizures have improved with medication. The future for your child is not set. She will determine that with your help as I know that my son will determine his.

  3. Sue says:

    Have any of you considered a gluten free / Casein free diet for your children with 16p11.2 deletion? It cant hurt and so many have seen positive changes with their children’s behavior. If you haven’t, please read up on this gluten intolerance and consider this change for your child. Landon, my grandson, no longer has screaming fits, and has become much more focused on communicating with family, therapists, and friend after a change to this way of eating. Consider giving it a try if possible. Sue

  4. Amanda says:

    Hi!! My daughter has recently been diagnosed with this and I would love to talk to you for support for one another!! Please email me if you want @ manda7uwg02@bellsouth.net. We have very similar stories. Briley was put in the hospital for grand mal seizures right before we got this diagnosis. She also has failure to thrive and constipation as well as speech delay. She is now 20 months old and I have been trying to stay strong for her. I know she has a great purpose on earth with her fun and loving personality 🙂

  5. Kate says:

    Hi! i swear I could have written this! my daughter is 21 months and we just got this diagnosis this morning, although hers is a deletion, not a microdeletion. She screamed from 5am until 9pm everyday from 3 weeks old until 3 and a half months, then at 4 months had 3 seizures in 2 days and nobody could tell us why. She still has seizures every once and a while. When she was 18 months and the developmental age of a 12 month old we went back to her neurologist and started getting tests done. This morning was when we got the diagnosis and ive been researching all day. If anyone has a similar experience and wants to chat my email is mccallum-k@hotmail.com Im new at this and my brain is scattered right now

  6. Steph says:

    I would love it if someone could please tell me a bit more information about this. My daughter is 2 and a half now but when she was first born all she did was scream and then at 3 months started having seizures and found out she as epilepsy which is still not controled by medication then we had the news that Lacey has also got 16p11.2 microdeletion we have not been told much about it. My little girl is only ababy and I already feel like the world is agent us!! They can’t tell me anymore info but you as a parents with children like mine can tell me ur story’s and maybe even what the future holds for us and it would be great not to feel alone because ur all going through with it ur self thank u for ur time hope to ear back from some1 xxx

  7. ginny mayner says:

    Dear Steph…My granddaughter, Raylee is four and a half years old. She was born in August 2009 and was diagnosed with 16p11.2-p12.2Microdeletion in March 2011. She was a low birthweight baby, even though she was full term. She was healthy so only had to spend a few extra days in the hospital before her mommy could bring her home. Looking back, I think we all knew something was a little “different.” She had little “squinty” eyes, low earlobes, etc. Of course, at the time, we just thought that those were special little features of our special little baby. Raylee was an exceptionally good baby, quite the opposite of how you have described your Lacey. In fact, Too good…lethargic..didn’t roll over, didn’t crawl, really didn’t do anything . It has been in the last few months that we have seen a remarkable change in her. Now, don’t get me wrong…she still doesn’t walk or talk but she is Definitely not lethargic (sometimes we wish she was..lol)..she crawls at full speed, knows the difference in yes or no, and lets it be known when she disagrees with the no, she gives kisses and we all know that we are special when we receive them. Steph, I think if you can get the epilepsy controlled with medication, then everything will be so much better. Yes, you have challenges ahead, but every challenge is worth it when you have a sweet baby reach out her arms to you….Love you and reach out to me whenever you need to.

  8. zoe says:

    my son also has 16p11.2 micro deletion inherited from me and passed onto me by my father my son was late meeting all of his milestones spoke his first words at 4 years old never crawled rolled over attempted to grab anything just sat untill he was 19 month was very clumbsy and still is now at 6 years old has hypermobility low muscle tone bad learning difficulities has constant support in school going through autism diagnosis now and also being tested for ocd and sensory issues he also has issues with food and gags at most things and suffers from on going chronic constipation hopefully with the right help he will thrive at his own level its a everyday battle keep youre head up and stay strong

  9. Brittany LaFlower says:

    My son just turned 3 on May 13, and he was diagnosed with 16p11.2 deletion syndrome a few months ago. He never met all his milestones, but he’s always been huge. He’s been in the 90-95% for everything since he was a baby. He’s only 3, but he looks so much bigger. He’s about 43 inches tall, and almost 40lbs.He has a very large head and forehead as well. He doesn’t speak but a few words, but he tries so hard. The developmental pediatrician also diagnosed him with low cognition.
    He also has sensory processing disorder, and as of right now, we’re waiting on a diagnoses of Autism. He has quite a few red flags for it. and some of his sensory “moments” may actually be seizures, so we are getting a referral to a neurologist. As of right now, he has speech therapy, and occupational therapy, and he’s also enrolled in a special needs preschool class twice a week.

    he’s such an amazing little boy, and no matter what, he’s going to thrive and be amazing. He tries so hard in everything he does, and he’s such a handsome, loving, happy little boy. Although he has a tough road ahead of him, things could always be worse. We are beyond blessed to have him.

  10. Jim says:

    My daughter was genetically tested at 1 month of age due to a lot of medical issues and was found to have a 16 deletion, we were told every case is different and it was a wait an see condition and was quite rare here in Australia.
    She had 2 holes in her heart and needed urgent surgery in Melbourne , and thankfully all went well.
    She has been diagnosed as deaf , and needed 3 hip surgerys to correct her malalignment.
    Her vision has been poor but is getting better as time goes by ( she is 20 months old now )
    Development wise she is at the stage of a 8 month old and her speaking is mainly grunts but she has started to gurgle and say mama.
    However she is most loving child and showers you in kisses and hugs and never stops smiling and laughing.

  11. lisa says:

    Hi my son Nathaniel was diagnosed with chromosone 16 deletion on Thursday he is 13 years old and I have struggled for 12 years to get genetic testing.As a newborn he couldnt control his temperature or blood sugars. He was difficult to feed. As he got older he was speech delayed and clumsy on his feet. He has problems with his vision recurring ear infections with significant loss to his left ear. He suffers terrible episodes of constipation and demonstrates extreme behaviours. He has had 4 grand mal seizures in a year and many other abscences of consciousness. I was told at the age of 2 that he had an unspecified learning difficulty. He did not meet criteria for autism though he has many autistic traits. We are now waiting to see a genetic specialist. I would love to hear others experiences of chromosone 16 deletion and what to expect feom seeing rhe specialist

  12. stacy says:

    We just received this diagnosis and so glad we finally have a name for it!! How has her life been since u wrote this?!?!?

  13. stacy alley says:

    I have just started a fb page called Friends for Gracen. I would love us all to have a place to talk about our special babies. Im new to this and would love guidance so I can help others in the future. Please cone join

  14. stacy alley says:

    I have just started a fb page called Friends for Gracen. I would love us all to have a place to talk about our special babies. Im new to this and would love guidance so I can help others in the future. Please come join

  15. maury says:

    My son age 3 1/2 has 16p11.2 deletion. He finally walked independently at age 3. He does not talk but follows verbal directions. He loves to play with his ipad and is generally a happy kid. He does smack his head when upset, for which we found that a helmet helps immensely. Luckily he has no seizures or medical problems. He is small for his age.

  16. Lori Miller says:

    My 11 year old grandson just got diagnosed with this. It’s been a long road and many specialists later. We didn’t really notice any delays as a baby but noticed he snored and always slept with his mouth open and would sweat heavily when asleep. He had excessive drooling but we attributed this to teething. He seemed to be on track for other developmental milestones such as crawling and walking but never said any words but babbled . At age 3 he started speech therapy and continued until about age 8. He finally was tested and started with an IEP with the diagnosis of specific learning disability. He now is in an all day special Ed classroom. When I was able to get him on my insurance, I went on a quest for a diagnosis. As a Peds nurse, I knew there had to be something else. We started with a neurologist who ordered an MRI. Got the diagnosis of chiari malformation but the doc said it was coincidental that it was found. I don’t believe that for a minute. She sent us to pulmonology who has done 3 sleep studies which show no REM sleep with central and obstructive sleep apnea. She was sure he had allergies. Nope, no allergies so now onto genetics. Now waiting to see the geneticist after the results have come back with this diagnosis.

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  18. Candy says:

    My son has 16p11.2 and was diagnosed about a year ago, my paediatrician hasn’t got a clue and just keeps trying to pass the buck onto someone else, my son is nearly 5 but looks like a 2 and a half to 3 year old, he has speech delay, eating issues, clumsiness, ear problems etc etc the problems go on he screamed for the first 2 years of his life. I really haven’t been told much or understand it too much any advice would be great thanks

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  20. Marie harrold says:

    My daughter has this exact syndrome so I know how hard it is, I hope she is getting all the help she needs.

  21. Melissa M says:

    My son wAs diagnosed with 16p11.2 at 4 months old. He learned to sit on his own at 13 months was crawling by 14 months he’s now almost 16 months. Been on many different meds he and seizures, use to have about one or two a day, he is now having a lot of silent seizures 🙁 waiting for our mri in March!

  22. Meg says:

    My son was diagnosed at 8 months of age with 16p11.2 micro and now he is 8 yrs old and he still cannot walk yet or chew or us the toliet he is in all the necessary therapies and working hard to achieving this one day. He is intelligence lvl is still kindergarten. Its very hard and i jist try to stay positive for him. He is homeschooling as well now as he was bullied. Anyhow would love to connect.

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