Family Stories
Our ZTTK Families are the heart and soul of our organization. We are proud to support our ZTTK patients and families. Their stories are simply remarkable. We hope you enjoy learning more about our SON-Shines.
Carson
We waited 8 long years for our boy! After what seemed like a normal pregnancy, my placenta became depleted and Carson had quit growing at 37 weeks. The Doctors told me that we needed to deliver him right away and that he would probably be 2-3 pound. But, my boy came into the world weighing in at 5 pounds and 7ounces.We knew right away that he would defy the odds. He struggled to eat 2 ounces, but he kept fighting. They said that he may never walk, but at 2 years of age he walked and has hardly stopped. He was making great progress when had his first seizure. It was a bad one and had lasting effects on his cognition, but he always finds a way to communicate and get what he needs. He was tested for hundreds of different disorders/diseases and we were told that we may never know a diagnosis. But, in September of 2018 we FINALLY got the diagnosis, ZTTK Syndrome. Carson has changed everything about our family. We have slowed down and appreciate every little thing that matters. He makes this world a better place by existing. If you meet him, you can certainly see he is a ray of "SON" shine☀
Riggs
Our ZTTK miracle’s name is Riggs. He was born in November of 2012. His first hours of life were crazy and fast! He was born via emergency C-section in the middle of the night, air lifted to Sioux Falls SD Children's Hospital, then air lifted to Mott Children’s hospital in Ann Arbor MI where at 6 days old he underwent hos first of 3 open heart surgeries.
After his first surgery Riggs ran into complication after complication with his health. He was diagnosed with Hypoplastic left heart syndrome, failure to thrive, feeding difficulties, craniotabes, Shone's syndrome, unidirectional nystagmus, developmental delay, hypoglycemia and hypermobile joints. Riggs started out with our states Birth to 3 program around 6 months. We could not have been more thankful for this amazing program and staff. They were a blessing and helped Riggs and continue to help Riggs succeed!
After years of wondering and asking what is Riggs never seem to be up to Par with any mile Stones, we were sent to a geneticist and Riggs was put on a research group where his blood would be tested for different answers. In
2017 Riggs was official diagnosed with ZTTK-Syndrome. After years of wondering we finally had answers. Our doctor's recommended a Facebook page with other families who had children with ZTTK. The Facebook page was life changing and eye opening to us! We finally had met other families who could relate to us!
Riggs is now 8 years old, 100% G-tube fed, non-verbal and can do some basic walking skills. We definitely credit our amazing school district who has great therapists and staff for Riggs success. Riggs is in public school in the special education department and has had great success with them. We hope this small information about our son may help other learn more about ZTTK.
Aiden
Aiden is and easy-going 3.5-year-old little boy that loves water and swimming, watching the news and playing with his rings and throwing himself in the ball pit. Although he has many challenges from having low tone and not being able to walk safely, not being able to speak or eat by mouth like the other children his age, he just loves to be around people and laugh and clap with joy listening to his favorite Baby Bum songs. He loves pigs, the alphabet and numbers, and he works very hard for 8 hours a day at school and therapy to overcome his challenges.
April
Our ZTTK miracle’s name is April. She was born in October 2013, and we live in Manchester, U.K.
Nicolo
Bună ziua noi suntem din România dar trăim în Italia. Nicolo s-a născut prematur la 33 de săptămâni. A stat 6 săptămâni în spital. A sta bine în fund la 2 ani și a început sa se târie pe fund acesta fiind modul lui de a se deplasa și acum. S-a risicat în picioare lângă pat la 3 ani. La 4 ani a făcut 3 pasi singur dar acum refuza sa mai facă sigur doar ținut de mână. Este non verbal spune doar Da(yes). Face picomotricita și logoped din păcate datorita Coronavirus doar cicluri și nu continu.
Hello, we are from Romania, but we live in Italy. Nicolo was born prematurely at 33 weeks. He stayed in the hospital for 6 weeks. At 2 years old, he started crawling on his bottom, this being his way of moving even now. He risked standing by the bed when he was 3 years old. At the age of 4, he took 3 steps alone, but now he refuses to make sure only his hand is holding. He is non-verbal, saying only “Yes.” He does participate in therapies, which has changed in frequency due to the Coronavirus.
Témoignage d’une maman d’un gentil jeune homme ZTTK — Please click this link to read mom’s testimony in French.
Our son is born in 1999 in France at 34 weeks. His weight was only 1.990kg ! Rapidly we noticed that he spent a lot of time sleeping and when he was awake, he never smiled even when we did funny faces or noises (his reactions were not those we had with our oldest son when he was baby) ; he was just looking at us with big amazed eyes. After 3 months I decided to stop feeding him (thinking that it would be easier to feed him with bottles and that he will gain weight more rapidly) …. Very bad choice indeed ! He started to have very complicated digestion and having him drink was really exhausting since we could spend 1 hour to make it take his bottle, and after he cried 2 hours because digesting was painful and it was quite time again to feed him again … His weight and size were always far below the normal curves and he always looked much more younger that his real age (it’s still the case and it’s not so bad since in his head he’s much more younger than he real age). I remember whereas he was 1 year old, a woman in an office congratulated me for my “new born baby !”…
At 6 months he started physiotherapist to stimulate human reflexes which were totally absent and after to help him having a good balance.
Seizures started very young (initially absence, then complete seizure and after laughing seizure (gelastic crisis) but Micropakine is efficient and he quite has no more seizure (we just had to be careful in case of fever or in summer during high temperatures).
At quite 3 year old, he managed to walk alone (but we really had to use imagination to help him accepted to try to walk alone, without clinging to us). In fact, I think that his main trouble at that time was probably his vision (even if he had his first glasses at 18months, it has always been difficult to define what is the appropriate correction for him). I used to say to doctors that he was walking like blind people, testing first with his foot what was in front of him.
From 2002 to 2006, he attended a normal school (initially only few hours a week with a woman just for him and each year, he was allowed to attend more longer). At the beginning, school was good for him and for the other young children (especially girls) who were very nice with our son they considered as their baby. But after 2 years, we noticed that he was too late to manage to stay in the future in a normal school where he was not stimulated for his special needs and in the opposite he was completely absent/lost/not concerned at all by the normal learnings. At that time I also drove him 3 times a week to a speech therapist to try to help him enter in communication (he used to spend time stuck on her therapist chest listening her singing). When he was very young, we rapidly notice he never talk but he started to sing. We started to speak to him singing and now he can speak a little (a music therapist explained us that in the brain there are 2 languages area : the normal one and a smaller one in the song area and when someone can’t speak normally, it’s helpful to develop the language area located in the song part of the brain. We did what she recommended and it works rather well. Regarding his size and weight, our son has always been far below from the minimum. At school, somebody recommended me to try a special diet without gluten and casein (it’s so complicated to cook without that we initially imagine to try it only 1 or 2 weeks). But the result were so positive that we finally did it 2 years ! The first benefit was that he stop to drink water by night (before he was needed 2 or 3 bottles and then nights were complicated for all) and he had normal stools for the first time !
While he was quite 7 years, we finally managed to have a place for him in a special “school” (IME in French) for mentally disable children. Unfortunately our son couldn’t stay there more than 1 year because the daily-3-hour-transportation was too much for him and he started to have non stop fever. The doctor told us to stop these too long transportation which were too exhausting for him.
After few months at home we managed to find a CLIS (which was a special classroom for 8 autist children where the ABA method was used (very useful and positive method !) and they could regularly ride pony which was really appreciated ! At that time, the specialist tried to improve his weight when he was 9 by providing him liquid food for sportive people (with many sugars) and it was catastrophic : this caused digestive pains all day long. We discover only when he was 11 that he had intestinal disaccharidases (in fact he couldn’t digest sugars … that is why our diet done years before was efficient since we deleted from his food slow sugars found wheat flour and rapid sugars contained in casein). After this discovery, we decided to listen to him (since the enzyme rate fluctuate throughout the day) and he doesn’t have digestive pain any more. Probiotics are also helpful in case of bad stools. In fact his weight has regularly been critical : each time he has ear or (not visible) sinus infections because he refuses to eat and loose weight (that is why he have antibiotics rapidly in case of infection to limit weight loss and fever).
After the 4 years in the CLIS, since he was 12, he was no more allowed to stay in the CLIS (you can’t stay at school after 12 in France).
Once again we have to investigate to find another good place for him. After difficult months, we finally manage to find his current establishment specialized initially for physically disable youngers (most of them are in wheelchair). Here, before Covid, he practiced sports (all kind but always adapted : special bike ; ski chair ; pony basket ; climbing ; walks; swimming pool – he loves water !-). He also attended shows, visited the city, went to eat ice cream or other nice sweets (since now he can digest them J). He even sleep there 3 nights/week there and he’s happy being with his friends there. He was supposed to stay there only until his 20th birthday but since we don’t manage to find a place for him in an adult specialized establishment, he can stay there waiting for a place to become available where we applied for him (since we are his guardians since he was 18).
Now is 21, when he has no infection, he spends his day singing, watching outside, smiling and he loves meeting people, going outside for a walk, saying “Hello ! How are you ?” to the people he meets or he looks at his 3 brothers (1 is 2 years older, the 2nd one is 6 years younger and the 3rd one is 12 years younger). The 3 brothers were very helpful to stimulate him, sometimes just playing normally besides him, or other times inventing rules to try to integrate him in a game. Our 4 sons love each other and we thanks God to have taken the decision to have other babies, even without diagnosis about the disability of our son … the ZTTK diagnosis arrived only in 2021 while our son was more than 21 years !
Thank you to my husband and our 4 sons for their love !
Signature : a mom of a nice ZTTK boy and proud of her sons
PS: During Covid, since 5 of us have to stay at home together, we discover that the 24h/24 life with our 21 year old ZTTK son can also be very fun!
Aleks
Ten uśmiechnięty chłopczyk jest jak złota rybka - bardzo wyjątkowy, to rzadki okaz ;) I nie mówię tak tylko dlatego, że jestem jego mamą i kocham go najbardziej na świecie ;) Aleks urodził się zdrowy, ale jak się okazuje w pakiecie otrzymał rzadką chorobę: zespół ZTTK. Aleksander urodził się w 2017 roku z hipotrofią bez ustalonej przyczyny. Pierwsze problemy zaczęły się, gdy Mały miał miesiąc. Pojawiły się problemy z karmieniem. Krztusił się, nie mógł przełknąć, a potem ulewał. Zaczął gryźć miękkie pokarmy dopiero około swoich pierwszych urodzin, a całe 12 miesięcy upłynęło nam na karmieniu go butelką co 2,5 godziny w dzień i w nocy. Pomimo naszych usilnych starań Aleks niewiele przybierał na wadze i słabo rósł. Miał także problemy z napięciem mięśniowym. Nie trzymał głowy do 9 miesiąca życia oraz był leżącym dzieckiem do 1 roku życia. Pierwszy poważny skok rozwojowy odnotowaliśmy po przyjmowania leku Euthyrox z powodu niedoczynności tarczycy. Po 2 tygodnikach leczenia Aleks podniósł się niezgrabnie jak sarenka. Zrobił wyprost na przedramionach czego nie udalo się osiągnąć żadną terapią, zaczął stawać na nóżkach trzymając się mebli, a potem usiadł. Miał wtedy 15 miesięcy. Niestety nie rozumiał instrukcji i kierowanych do niego poleceń. Nie gaworzył, nie mówił, tylko piszczał po swojemu. Zaczął się uśmiechać dopiero po podaniu kwasów omega.
Obecnie Aleks ma 4 latka. Jest nadpobudliwy, ma niedoczynność tarczycy i słabą odporność. Po 3 kursach przezczaszkowej mikropolaryzacji mózgu i bioakustycznej korekcji mózgu, które odbyliśmy w klinice neurologicznej w Rosji pojawiły się pierwsze słowa (było to w styczniu 2020 roku) i rozumienie komunikatów. Obecnie Aleks sygnalizuje wszystkie swoje potrzeby, opisuje słowami swoje otoczenie, potrafi złożyć zdanie składające się z 5 słów. Nadrabia zaległości i każdego dnia prze do przodu, ale ze względu na słabą odporność nie możemy realizować wielu aktywności. Mamy nadzieję, że uda nam się go usprawnić i uczynić niezależnym.
This smiling boy is like a goldfish - very special, it's a rare specimen;) And I'm not saying that only because I'm his mother and I love him the most;) Aleks was born healthy, but as it turns out he received a rare disease in the package the ZTTK syndrome. Aleksander was born in 2017 with hypotrophy for no apparent reason. The first problems started when Aleks was a month old. We had feeding problems. He choked, couldn't swallow, and then poured down. He only started biting soft foods around his 1st birthday, and we spent the entire 12 months feeding him with a bottle every 2.5 hours during the day and night. Aleks gained little weight and grew little. He had problems with muscle tone, did not hold his head until 9 months and was a lying child until 1 years old. The first serious developmental jump was recorded after 2 weeks of taking Euthyrox for hypothyroidism. Aleks stood awkwardly like a deer. He stood on his feet and began to get upright and then sit down. He was 15 months old then. Unfortunately, he did not understand the instructions and the speech addressed to him. He wasn't babbling, just squeaking. He started smiling after serving omega fatty acids.
Currently, Aleks is 4 years old and several days old. He is hyperactive, has hypothyroidism and poor immunity. After 3 stays of transcranial micropolarization and bioacoustic brain correction, which we had at the neurological clinic in Russia the first words appeared (it was in n January 2020). The child began to obey orders. Currently, Aleks signals all his needs, describes his surroundings, consisting of simple sentences up to 5 words. He is catching up, but he has poor immunity and can be very nervous. We hope to find a way to improve him and make him independent.
Love from Poland:)
River
River Nichols was born at 5lbs 13oz via c-section due to being breached. From the moment I was pregnant and never felt him move in my womb, we all knew he was either going to be a very calm baby or something was a little different.
When he was born we instantly fell in love. We were in the hospital for 9 days due to a short time in NICU because he wasn’t latching and had jaundice. I remember the nurses saying he had low muscle tone but not knowing what that meant at the time.
Fast forward three months later River had his first surgery for a genial hernia. This was the first time the doctor also mentioned concern for his physical development. After surgery they put us in touch with a geneticist.
River was always the perfect baby. Being our first, we weren’t always sure what was and wasn’t normal development. At 4 months we started the journey to find a cause for his very low muscle tone. This is also when we started Physical, occupational, and developmental therapy.
Soon we coined the phrase, Mighty River. River is a little fighter and pushes hard through his therapies. Every developmental “inch stone” he makes is always one to be celebrated! River continues to progress through therapy even though it is very tough for him at times. While he is fighting hard in therapy, my husband and I are fighting hard with the doctors to find a cause.
We were matched up with an amazing neurologist and geneticist at Peyton Manning hospital in Indianapolis. Together those doctors helped us with genetic testing. Finally with insurance approval we were able to do whole exonerated sequencing testing.
Shortly before the WES testing results came in, River suffered a major seizure. His seizure lasted almost 2 hours and he was taken to the PICU at Peyton Manning.
We knew it was a possibility of seizure due to his MRI months previous that showed under developed myelin sheath and nodules on the brain. I remember sitting in the PICU and his neurologist saying it had to be a genetic reason for all of this. She explained his brain was exactly the same on both sides, it was created that way. The nodules were in the same place on both sides, everything indicated a genetic cause.
One month after his major seizure the WES testing results came in. When the geneticist said they found something, I couldn’t breathe. I knew our world was about to change and all I could think of was my sweet baby River. The words ZTTK syndrome just rolled off the geneticist tongue as if it were any other word. She paused to make sure I understood. I had her repeat it over and over as my husband and I asked a million questions.
Shortly after finding River’s diagnosis, we met with his doctors and therapists and made a plan. Our Mighty River continues to do things physically and mentally that surprise us every day. With the help of medicine he has only had one more seizure since his major one.
We continue to fight for his medical and educational care every day.
Audra
Audra joined our family through the blessing of adoption. She spent the first 5 and a half years of her life living in an orphanage in China. She had been found at the gate of a hospital when she was only a few days old weighing 3 pounds. We knew nearly nothing else about her medical history from those first 5 and a half years other than she was diagnosed with malnutrition and developmental delays. But none of that mattered because we fell in love with her the very first moment we saw her picture in November 2012. In April 2013 we traveled from our home in Pennsylvania, USA to meet our daughter in Guangzhou, China and bring her home forever. It was truly the definition of love at first sight. We were smitten, but also very concerned. At 5 and a half years old she looked like an 18 month old and weighed only 21 pounds.
Once we arrived home with her 2 weeks later her medical journey began to unfold quickly. After being home for only two weeks she spent a month in the hospital quite sick. She had nearly every test possible done and some very scary diagnoses were discussed and thankfully ruled out. After that hospital stay she began seeing a lot of different specialists and the diagnoses started rolling in:
Hearing loss with hearing aids,
Kidney reflux with kidney abscess and cysts,
Intestinal Malrotation with surgical repair,
Immunodeficiency requiring IVIG infusions every 3 weeks,
Ruptured ear drum from chronic infections requiring tympanoplasty,
Pancreatic insufficiency with FTT and malnutrition requiring G-tube feeds
Every doctor always assumed she likely had a “unifying” diagnosis, but her first round genetic testing revealed nothing. Then in late 2016, after we switched health insurance providers, whole exome sequencing was finally approved. The results came in during one of her hospital admissions in March 2017. Audra was the first child to be diagnosed with ZTTK syndrome at CHOP. None of her doctors had heard of it before. They shared a couple of journal articles with me and that was it. At that time there really wasn’t any more information out there. Through the miracle of the internet I connected with another ZTTK family and eventually found my way to our current little ZTTK community.
Audra is a mostly non-verbal but very happy little girl with an infectious laugh. She can walk independently although she tires easily and uses a wheelchair at times. She needs help with all of her ADL’s. She attends a Life Skills school program with a 1:1 aide. She has participated in Special Olympics bowling, track/field and soccer. She receives speech therapy, OT, PT and hearing therapy.
Audra is adored by her three siblings Riley, Aidan and Maura. While it has been hard for them to see their sister sick, in the hospital and having surgeries, they have been incredibly strong, loving siblings always by her side. All three have a big heart for kids with special needs.
Audra is our tiny little warrior (whom we all still carry around at 13 years old!) and she completes our family perfectly.
Sean and Shannon Boyle
Riley, Aidan, Maura and Audra
Toby
We are the Owen family from Scotland. We now live in Texas. We are Mom , Dad, sister and Toby (our boy with ZTTK syndrome).
Throughout pregnancy Toby measured small and his nuchal translucency was high. I had a Chorionic Villus Sampling test to test for chromosomal abnormalities and certain other genetic problems. This all came back inconclusive. Toby was born at 37 weeks 4 days weighing 3lbs 15.
Toby was born in Scotland in 2015. We moved to Texas when he was 15 months old. Toby was born small and sent straight to neonatal to grow. It was whilst in the neonatal they came across various abnormalities that led them to believe there was an overriding syndrome for all the abnormalities. We received basic genetic testing in Scotland that came back inconclusive. It wasn’t until we received more testing in Texas that we received our ZTTK diagnosis in November 2016.
Toby is a very happy and cheeky boy. Intellectually Toby is a few years behind his actual age and milestones are delayed. He walked at 2 years 7 months. He wears orthotics and hearing aids. He says around 10 words and uses around 40 signs to communicate. His comprehension is very good. He is medically complex and has had surgeries for heart defects (surgery at 8 weeks old for that), craniosynostosis surgery, ureter surgery, hypospadias surgery, few sets of ear tubes fitted, adenoid removal. Toby has always been slow to gain weight. He was ng tube fed for the first 8 months of life. He eats and drinks well but slow weight gain and failure to thrive. Toby wears a protective helmet as he is prone to head concussions and he loves to climb!
Toby goes to Elementary school and is in a life skills class. He loves to go to school and ride the school bus. He goes to speech, physio and occupational therapies. His favorite things are television, his sister and his thumb!
We are very pleased, excited and so grateful to learn that more research will be done on ZTTK syndrome. It may not help our boy but it will sure help other families in the future and that is certainly our hope.
Ava
Ava is a twin and was born in Northern Ireland, at the Belfast Royal hospital on 21/10/19, her brother Olly doesn't have any syndromes or health problems.
I gave birth naturally but needed help via vacuum. I got to hold my boy first but Ava was whisked away into an incubator and straight to NICU. I didn't get the chance to hold her or see her. The next day I managed to have skin-to-skin with her delicate small body. She was tested for Edward's syndrome and Patau's syndrome as she had symptoms. Luckily tests came back negative. She was diagnosed with ZTTK a few weeks later. My partner and myself have had genetic testing and it came back negative - not inherited from parents. She was born 3lbs 5oz and had IUGR. Ava was born with 3 holes in her heart (was scheduled to have heart surgery), cleft palate, abnormal low set ears, deafness, duplex right kidney, sacral dimple, eye squint, thinning of corpus collosum, severe GORD and calcification of the skull. Ava is tube fed due to having feeding problems and having a cleft. She was transferred from Belfast Royal Hospital to Antrim Neonatal and stayed there for 2 months. Whilst here, we discovered she has MRSA. She also had bronchitis and needed breathing support as her heart could not take the strain and work. She received my colostrum and was breast fed through the NG tube for the first 3 months. She also took formula to keep up her weight. But unfortunately I had to stop as she wasn't gaining enough weight, which upset me as I was breastfeeding her brother. Once she improved a little, she was then transferred to Causeway Hospital children's ward, where she stayed a further month or so until she got to the ideal weight to be discharged. She took Omeprazole for her severe reflux and Spironolactone and Furosemide for her heart failure. She receives Occupational therapy and Physiotherapy and is seen by a dietitian on a regular basis. Ava was allowed to come home at 4 months old. Since then she was seen by the Cardiologist at Belfast Royal Hospital to assess her heart condition. To his surprise the holes had spontaneously closed over! I was so relieved. However he mentioned she has a heart murmur and Bilateral SVC's (two veins in the heart instead of one) which will have to be monitored regularly. Ava then went on to have her cleft palate surgery, which healed within weeks. Howevr she still can't chee/suck and is still tube fed. Ava is now 16 months old and improves everyday, she has surprised us all and has made us the proud parents we are today. She is our little miracle.
Emma
Emma Olivia was born on November 17, 2017. She was diagnosed with ZTTK Syndrome at 1 1/2yrs old.
Riley Rose
Riley Rose was born in Sydney, Australia one week overdue, weighed 2.5kg and was 46cm tall. Prior to birth all tests and scans were normal. After 15 hours labour she started to become in distress and was delivered via emergency cesarean section. She was not breathing and was placed in the NICU on a ventilator and subsequent oxygen support for a day. She spent her first 5 weeks of life in hospital. It was a traumatic start to life for everyone involved. She was always too weak to be able to suck successfully from the breast. She was released from the NICU only after she was capable of feeding from a bottle instead of an NG tube.
She was diagnosed day 1 with multiple congenital abnormalities, of which included Sagittal Craniosynostosis, enlarged ventricles, polymicrogyria, periventricular nodule grey matter heterotopia (PVNH), horseshoe joined kidneys, hypotonia, hypermobility in her joints, her acetabulum were not forming correctly, vision impairment, hearing impairment, global developmental delays and started having seizures post cranial vault reconstruction (CVR) surgery at 17 months. Her seizures are currently controlled with Keppra.
Her official ZTTK diagnosis came at 17 months after two failed DNA arrays and was discovered by a researcher through Exome sequencing.
She didn’t roll until almost 2 years of age, she started commando crawling just before 3 yrs, 4 point crawling at 4.5 yrs and can stand and walk equipment assisted only at 5 yrs.
She started on solids at 6 months, stopped bottle feeding breast milk at 13 months and moved onto normal cows milk. She was diagnosed with failure to thrive and has mostly been on or below the 1st centile for growth and weight. At age 5 she is 91cm tall and weighs 11kg. Even though she is not deficient in growth hormone, she began taking it via injection at age 2 and will continue until her doctors decide otherwise. It turned out to be a great success in improving her growth rate and muscle development.
She has had early intervention therapy since 6 months of age, which have included Speech Pathology, Physical Therapy, Occupational Therapy, Music Therapy, Hydrotherapy and Equine Therapy riding. She wears a DMO suit and AFOs for any physical activity. She has a standing frame, a walking frame, a high low special seating system and will be getting her first wheelchair soon. She will require adult propulsion and we will begin working to teach her self-propulsion if she is able.
She is non-verbal (makes various nonsensical sounds only) and can do one key word sign for finished as well as shake her head for no. She can also clap and wave. She started at special school at 4.5 yrs and learnt to point right away.
She mouths everything given to her, sucks on her fingers and bites herself when upset or frustrated. She seems to know her limitations and gives up on tasks very quickly if she can’t accomplish them right away. She’s very empathetic and gets upset when other children are upset. She loves looking at and turning the pages to books.
In general she is a smiley and happy little individual who craves attention from adults near her especially and foremost from her mother. She makes and holds eye contact extremely well. She loves touching faces, eyes and hair. Her happiest place is in the arms of someone walking around. She will watch other children and adults intently to see what they are doing. She loves her family, little sister and her dog.
Elizabeth
Our daughter Elizabeth was born prematurely in 2013 after a difficult pregnancy, and she was diagnosed in 2015 with ZTTK Syndrome. She was one of the first cases identified in the world, which propelled our family into advocacy for ZTTK Syndrome.
We were overjoyed by every birthday, because we have had many close calls with her, including the day she was born . We always like to say that, “Birthdays mean more when you have to fight for them,” and Elizabeth has certainly fought for each of her birthdays. We are so grateful for our precious, miracle, rare, rainbow baby, and she is truly the light of our lives. She is also the Queen of our household.
Elizabeth is such a joy to our lives and to everyone she meets. Her laugh is contagious, and her smile is infectious. She is strong, brave, and beautiful, and she is such a gift to our family and to this world. We love to watch her continue to learn, grow, and thrive. She moves along her own path at her own speed, and we could not be prouder of her and all that she has accomplished.
We know that if it were not for the careful attention and dedicated care from her multiple medical teams, our story would be very different. So, we continue to share Elizabeth’s story. Her story is one of hope. Her story is one of love. Her story is one of survival. Her story is one of perseverance. Her story is one that we share with the world whenever possible, and the joy she brings to our lives every day, is possible because of all of those involved in helping us to keep her with us. It has sometimes been a very hard fight, but it is always worth it. We have learned to fight for and advocate for whatever she needs, no matter how steep or difficult the task, because we want the very best for her and cannot imagine a world without her in it.
We are forever grateful for our little billion-dollar miracle baby. She is truly our ray of SON-Shine. She also has a big brother, Celtan, who is a great joy to our lives and adores his sister. We are so grateful for our ZTTK Family, and also for our community for rallying around our family time and time again. This journey with Elizabeth has been full of heartache, but overall it has been full of so much joy and beauty. She has made our lives so much more enriched and has given us a fresh perspective on life and being happy despite odds being stacked against you.
We want all ZTTK Families to know that you are not alone, and that our SON-Shines are truly real-life superheroes. In our house, we believe that the blessings outweigh the burdens, and this has certainly proved true for us. Elizabeth has shown us that the little things are the big things, every inch-stone achieved, every new day, all of it is a gift. Our little warrior princess is one of our greatest blessings.
Eternal love and hope from our family to yours. ~Jason, Tara, Celtan, and Elizabeth Hackwelder
Yovani
Our son Yovani, 5 years, was diagnosed in March 2017.
There was nothing unusual about my pregnancy. He was born at 37.5 weeks, 5 lbs. 15 oz. 19” long. He was on the smaller side but nothing to be concerned about, so we were told. At the hospital he wasn't nursing as often as they would like so we were kept an extra day to monitor his feeding. He was born with a murmur (small VSD, PDA, and PFO) which thankfully all closed on their own by the time he was 7 months. He also has a sacral dimple, which is not of concern after being checked. He failed his hearing screening and then had a diagnostic ABR which indicated normal hearing, but fluid in his middle ear was still an issue. We continued to see an ENT and got PE tubes in his ears to help with the fluid – he is currently on his fourth set.
We noticed something was different when he was a month old and he would look passed us, never at us. He wasn't doing things his older sister would do throughout the months. But we were told that boys usually take longer than girls to learn. Then he started falling behind on his milestones. The process began to find if there was an underlying issue. We were referred to Neurology and Genetics. An MRI was done which showed he has an arachnoid cyst, but that was not the cause of developmental delay. The Geneticist began with an Autism/metabolism panel which came back normal. Yovani was then tested through a specific genome test. It was this test that found a mutation in his SON gene. He was 18 months old when he was diagnosed with ZTTK syndrome.
Yovani got enrolled in early intervention services at 10 months to begin physical and occupational therapy. He rolled from tummy to back at 4 months, but from back to tummy at 9 months. He sat independently at 14 months after being in physical therapy for 4 months. He started to scoot on his butt at 18 months and randomly started crawling at 2 years. I say randomly because he had already started taking steps towards people at 20 months and then decided he wanted to crawl instead. He took his first steps at 21 months, and it took him another 10 months to fully walk on his own. He has worn SMO’s since he was one. Now he is all over the place and is improving his running skills. He jumps off 10-inch steps and climbs up-stairs independently. He has become quite the little hiker which has greatly helped with muscle tone. Keeping up with sister and brother has definitely helped him improve his gross motor skills.
Growth wise he has gone from failure to thrive to the third percentile on a high calorie diet. He has become a picky eater, but his favorite foods are Pizza and blueberries. Those are our go-to meals when he is having an off day. For a while, he took Kate Farms to help with weight gain. There was a while when he would gain weight, but then he would get sick and lose all he would gain. He was tongue and lip tied, which were corrected at 6 months. Through some feeding difficulties, I was still able to breastfeed for 2 years, which I am thankful for.
When he was two and a half, during his third Myringotomy – ear tube surgery – He was given another diagnostic BAER to check his hearing. It was confirmed that he has a bilateral mild-moderate sensorineural hearing loss. Yovani received hearing aids and, thankfully, since day one we have had no issues with keeping them on. It was determined that his hearing loss is late-onset. Since attending speech therapy, he has progressed so much in language. He went from knowing 10 words at age two to now saying 5-6 word sentences, has strong receptive language, and is improving his intelligibility.
When he turned 3, he transitioned out of Early Intervention and into a developmental preschool. He was evaluated and given an IEP for hearing loss and developmental delay. The first year was hard for a few months because of the separation anxiety. For his second year we were expecting some tears and hesitation, but the opposite occurred. He was so excited to go play that he almost forgot to say goodbye. He loves school and has learned so much. He is now in kindergarten which has been virtual most of the year thanks to COVID-19. He is in a special education classroom receiving various services with a great team of teachers and therapists.
In addition to having strabismus, he was diagnosed with Cortical Vision Impairment (CVI) the summer before his fifth birthday. This gave us the answer for why he wouldn’t provide eye contact when we would talk to him but would look at us during other times. It also explained why he looks down at an activity, then looks away to it or why it seems he doesn’t pay attention when he is walking.
In his short five years of life, Yovani has introduced us to the power of resiliency, adaptability, and more importantly, love. He has taught us more about life in his short years than we knew as adults and made us realize what really is important. His contagious laugh fills the room. He loves playing with his older sister and baby brother. He loves cuddles from mom and dad. He loves hide-and-seek, all things sports, music, Toy Story, Avengers, Doc McStuffins and Daniel Tiger. He is the bravest person we know. We couldn’t for one second imagine our family without him.
There is so much unknown about the effects of ZTTK syndrome and we know our son will help bring light to information for researchers, providers, and more importantly families. During this journey, just keep in mind that our children are mighty warriors shining bright everywhere they go in life.
Russell
When Russell was delivered in 2000 via C-section at 36 weeks, 11;29pm, 3 pounds 14 ounces, 16 inches, we were just first time parents with a premie. All the after birth testing was regular, until his blood was checked the following morning. Russell had an extremely low platelet count, and was rushed to another hospital with a better equipped NICU. There, he was given a platelet transfusion which stabilized his count.
During his 4 week stay in the NICU, every bodily system imaginable was tested. It seemed every day we were given a new diagnosis requiring consultation from another specialist. A Cardiologist was needed to monitor the PDA, ASD, and VSD, which closed on their own within the first year without requiring surgery. A Neurologist was brought in to monitor the intracranial brain hemorrhage and polymicrogyria and their effects on his development, or seizure potential. And we were informed about potential long-term neuro-developmental problems. A visit with a Geneticist was scheduled to determine what, if any syndrome he had, in order to know a future prognosis.
Also while in the NICU, Russell would not breast feed or take a bottle, so a Naso-gastric Tube was used for feeding. We had to learn how to place the tube and manage it before we could be released.
Finally, 4 weeks later, we left the hospital as parents with a medically complex child. Russell was delayed in every childhood milestone, and his growth and weight was less than the 5th percentile. His pediatricians always said, “He’ll catch up.” But he didn’t, he set his own pace.
Because he never learned the “suck, swallow, breathe” reflex, we continued with the NG feeding tube for 11 months, but it became very traumatic for me and for Russell. So the Gastroenterologist scheduled surgery to place a Gastrostomy Tube. He still gained weight and length very slowly, and at 27 months, Russell started receiving growth hormone shots. He was almost 8 when he reached the 25th percentile. Shots were discontinued when he was 13 years old because his hand bone age was read as 16 years old.
Shortly before Russell’s 10th birthday, I scheduled him for treatment at Penn State Hershey Feeding Clinic, where we spent a month training Russell to eat. (That is a story in and of itself, which I would be happy to share if anyone wishes to contact me for details.) He has been eating by mouth ever since, although he’s never really enjoyed eating, and meals sometimes last an hour or more.
After years of Genetic testing with no identified syndromes, Russell’s dad and I decided to back off testing for a while. At this point, we realized whatever he had was quite rare, and maybe hadn’t yet been discovered. We knew sometime in the future, as genetic testing improved, an answer would be found.
In 2015, Whole Exome Sequencing (WES) was ordered by his Geneticist. Results came back with a De Novo Mutation of the SON Gene, but it was listed as a “Variant of Unknown Significance”. In 2016, our geneticist was contacted by a researcher at the University of Alabama who was studying the SON Gene and asked if we wanted Russell to be included. The long awaited answer came in September 2016 when the study from the University of Alabama, and a simultaneous study from Baylor University were published in The American Journal of Human Genetics. This research explained the majority of Russell’s symptoms, finally!
It was difficult raising a medically complex child. Friends with typically developing children don’t always know how to respond or act, and sometimes drift away. It can lead to isolation, especially when your child does not have an official diagnosis. I was happy that many of the parents from both studies decided to connect and a Facebook Page, ZTTK-SON SHINE gene DE NOVO was created by 3 of the moms. It was a place to discuss our complex children with people who understood.
Our group has grown to over 200 members in 2021, with a little more than 100 children with the ZTTK Syndrome diagnosis. I am pleased and proud to be a part of creation of the ZTTK SON-SHINE FOUNDATION, Inc., where we hope to further research into the SON gene, and reach and support families of children diagnosed with the syndrome around the world. Most of all, I am proud to be Russell’s Mom!
Vincent
Hi my name is Vincent and I’d like to tell you something about me. I live with my Mummy, Daddy and big brother Charlie (3) in Victoria, Australia.
I was born on May 16, 2017. I was 5lb 6oz at birth which was a normal delivery. My mum thought her tummy had stopped growing near the end and also that she didn’t think I was moving quite as much as I should have.
I failed 2 hearing tests in my first week of life. My next hearing test showed moderate to severe hearing loss. I also had fluid in my ears and had grommets put in at 12 months. My hearing then tested as mild to moderate.
I had lot of trouble feeding from my Mum but did a lot better with a bottle. I have never drank more than 100ml!
My Mummy & Daddy thought there may have been something wrong because I never really looked at anyone, just seemed to look past. I still hadn’t smiled by 3 months and after my 3 months check up with the paediatrician the ball started rolling to find out what might be wrong.
After all the testing that I had to undertake they came up with these results:
I had a mircroarray test which was negative for any syndrome
Mild to moderate hearing loss
Sacral dimple
Un-descended testes
Low set ears …..that don’t quite look the same
Wide set nipples
Inguinal hernia (op at 3 weeks to correct)
Horsehoe kidney
Umbilical hernia (fixed itself)
Low muscle tone
Hyper-mobility
Fontanelle closed before 3 months of age
MRI showed extensive supra-tentorial white matter volume loss at 3-1/2 months.
I am vision impaired but we don’t know to what extent yet.
My feet are different to each other.
I think I had rolled from my tummy to my back a few times at 3 months but that was about it until I started Vojta therapy at 14 months. By then I still wasn’t able to lift my head up at all while doing tummy time but after a week of the therapy it all changed. After about 3 weeks of doing the therapy I started rolling and by 17 months I could sit myself up.I stood up by holding on furniture when I turned 2. I am 27months old and I can walk along a furniture my Mummy & Daddy are very proud.
I’d say my physical stage is better then my mental development. I can make sound like ma ma, I can clap hands but don’t wave or point. My fine motor skills aren’t to bad. I still play with babies rattles I know how to use cause and effects toys but still practicing on how to build blocks up. I don’t hold my bottle, don’t finger feed, don’t feed myself with spoon even though I am capable of it I don’t do it.
I use to get bronchiolitis often and still fighting with quite a few ear infections often which sets me back a bit each time. Just about to get my second se of grommets done.
I am doing very well with my solids, I am getting longer but I haven’t put any weight on for about 15 months now. I am at about the 1 percentile. Everyone is thinking about putting me on Growth Hormone which we’ll give it a try in next few months.
Nobody could diagnose my condition until the results of my genome test showed ZTTK syndrome and everything makes sense now.
Ömer
Hi, my name is Ömer. I live in Turkey. I was born with bilateral pes equinovarus and horseshoe kidney. In the process of growth my parents recognised infantile muscular hypotonia. I have moderate intellectual disability, hypermetropia, down-slanted palpebral fissures, low-set ears, thin corpus callosum and ventricular dilatation in my brain MR. I had 3 set ear tubes, inguinal hernia repairation.
Besides all this I have a big smile because I love my family. I am very lucky to have a family that accepts me with my special needs.
Emma
My daughter Emma Nora was born at 3 pounds, 16”. She was Baby B and her twin sister Ella, Baby A. The day they were born Emma was measured by the MFM specialist at just over 5#. After an emergency c-section delivery because there was very little fluid in Emma’s sac. Once delivered Emma was helicoptered to a nearby Children’s hospital. She was diagnosed with IUGR, Failure to thrive, Adrenal Insufficiency, and GERD. She spent her first 30 days of life at the NICU which was devastating to this new twin Mom. I had spent a lot of time in a twin Mom group on Facebook excited to learn how to juggle twin life. For the first month I learned how to juggle NICU parental visiting hours while her sister sat in the waiting room with her father. It took some time to learn how to care for her from her doctors and nurses. I couldn’t wait to have my girls’ home together.
Emma has made tremendous strides since her birth over 8 years ago. She has maintained her blood sugars with a good diet to maintain her adrenal insufficiency. She had a NG and then G tube at 10 months and 13 months, respectively. Last year at 7 years old, her G-tube was sewn up because she has successfully learned to eat and take her medicine on her own. Her strabismus has been corrected with an adorable pink glasses.
Emma is a developmentally delayed 2nd grader who is currently in a 12:1 classroom. The classroom is smaller which allows her more 1:1 attention from her dedicated and adored teacher. She has been learning to tell time, count money and read books. Emma began life non-verbal and slowly learning sign language from the Early Education speech therapists. She has received physical, occupational and speech therapy at school since she was 2.5 years old. Emma is a talkative, funny, smart, adored daughter who loves to make cards for her Momma. They always have drawings of the two of us holding hands and smiling. She comes to me several times a day for lots of hugs and kisses which couldn’t make me happier.
It was pretty terrifying for me to get her ZTTK diagnosis in the beginning, especially since there were only a handful of cases in the world. Our lives are so much richer and fuller for bonding with the parents of this group who have helped me with their constant love and support more than they will ever know.
Yara
I am Yara Jaafar from Lebanon. I was born on February 7, 2020.
It seems that my story started even before I was born but no one knew why... Yes, I wasn't developing normally in mama's womb and was only 1,980 kg when I was born. I also have 6 toes. I stayed 16 days in the incubator and kept on losing weight. Then when I came home, mommy started realizing that I didn't really interact with her... I basically never smiled to anyone. She kept an eye on me until I became 3 months old and that's when I had my first visit to the neurologist who through the MRI told mommy that I have a rare brain damage called closed-lip schizencephaly. I started physiotherapy at the age of 4 months. In the meantime, I wasn't gaining weight and height, so I started feeding therapy. I started eating mashed food at 3 months but wasn't able to drink milk!! Accidentally, mommy took me to a cardiologist who discovered another rare malformation, a vascular ring (my aorta was wrapped around my esophagus). I underwent a surgery when I was 5 months old. I had my first occupational therapy session when I was 7 months old. The result of the genetic testing came out and diagnosed me with ZTTK and that's when all the external and internal abnormalities were answered.
Mommy kept on reading about my Syndrome until she found a Facebook group which really helped her to understand and know how to deal with me a lot. I interacted with my family for the first time when I was 10 months old.
I am now 1 year old (5.8 kgs and 61 cm)... I have visited all different types of doctors in this short period... I have a triggering finger (the ring finger) and verrrry dry skin. I almost ignore the left side of my body (but mommy forces me to use it!). I haven't reached a full head control yet but I am working hard to do so soon.
So far these are the only abnormalities in my body... I have my cute eye glasses on all day long and I'll be starting hormonal shots next month (my family are so excited!!). I do PT and OT once a week and FT once a month. My next appointment is with the orthopedist to see what new things might be discovered in me.
This is me Yara... the family's blessing and the heroine of all time as all the people who know me describe me..
Lainey
Lainey was born September 23rd, 2014. Pregnancy was followed closely be a specialist because she wasn't growing well IUGR she weighed 5lbs 3oz and was 16in long. Our cords that were connected together were as thin as a spaghetti noodle. She had to stay in the hospital for 2 weeks because of feeding difficulties.
Finally, we got her to take breast milk by bottle. She went home at 4lbs 7oz. All newborn tests came back normal. Pediatrician came in and said she had very low set ears. At home, she screamed every day and night for hours and nothing we did would calm her. Finally, at 5 months I finally got her to latch on my breast... 1 month later I took Lainey to the hospital because she wasn't tolerating any of her feeds and was in such bad pain. They told me the worse news a mama can hear about my breast milk. My sweet tiny baby was allergic to my milk. I was devastated... She refused to drink formula from a bottle and was NG fed for 4 months till we decided to get her a g-tube.
At 6 months, she was also diagnosed with communicating hydrocephalus and required multiple lumbar punctures to drain the fluid from the brain through the spine. Lainey has been in special needs programs since she was 3 months old. Her whole life it's been a struggle to get her to gain weight. By the time she was 1 she was just 14lbs. She has been hospitalized more than 80 times and had been diagnosed with multiple conditions and needs round the clock care. Her sugars drop low and she will go into a coma.
Lainey has the exome sequencing test which showed multiple things with no significance of her symptoms. Finally, after 3 appeals we had the whole exome sequencing test done which came back showing our sweet Lainey to have ZTTK syndrome. Finally, we had answers, but they really weren't answers since this condition is so rare... Lainey is 1 out of 100 people in this world with this condition. We are continuing to adapt to her condition which has added another 3 teams of specialist to our squad of miracle workers.
Lainey is so loved by her Mommy, Step daddy, Nana, big sister Arraya and little big brother Alexander. Please take a look at some of Lainey's beautiful life.
Ava
Hi, my name is Ava and I am 14 years old. I live in South Carolina and I have 2 older sisters. I was born with Hypotonia and I have intellectual disabilities, ADHD, Autism and ZTTK Syndrome. My Mom found out about my SON gene mutation when I was 10 years old. In 2021 I was diagnosed with ZTTK Syndrome.
I LOVE horses!! I take riding lessons every Saturday and I even work there helping before my lesson. I just love being at the barn and being with all the horses. I would love to have my own horse one day and create that special bond with it. I also love country music, school and my routine. My Mom helps me stay on track.
My life so far has been a lot of doctor visits and a lot of surgeries. I have had 5 sets of tubes, my adenoids out, 2 Strabismus surgeries, surgery for tethered spinal cord, deflux injection and bilateral tympanoplasty and is just some. In 2014, I started having seizures and had to take medicine for that. I have had physical therapy, occupational therapy and Speech, which I don't really like because they take me out of class. I don't like to miss class.
When I grow up I want to work at a horse rescue. I know I can do anything I put my mind to and work hard. Thank you for reading my story and to raise awareness for ZTTK.
Love Ava
Blake
Age 6
My little love right here just gives me all the feels. The day Blake was born was emotional. After getting into our room after the c-section, there were initial concerns brought to us of no soft spot on his head, and that it could be crainiosynostosis (fused skull). That first concern began the journey of where we are today. At 3 months old Blake had his initial reconstructive skull surgery where they separated his skull to help his head grow, and brain grow. Then a few months later he had his tethered spinal cord surgery. Somewhere around there we discovered he had vision issues and got him baby glasses. All of that in less than a year. I almost forgot about the series of ear infections he has had for years and tubes in his ears that fell out and more permanent ones put in.
Blake has received Physical therapy and Occupational therapy since a baby and there were large concerns of mobility. Blake could not Sit up for a long time. We experimented with adaptive moving cars at his therapies, and walkers. Thousands of prayers and therapy sessions later, Blake learned to sit up, walk, run, jump!
Our journey has continued with his skull fusing again which resulted in a bigger skull reconstructive surgery where they scrapped the inside of his skull to create new bone. But it doesn’t stop there. Blake suffered from what we thought was a concussion at preschool and that was our first ambulance ride, then later he fell off a chair at home and couldn’t move the left side of his body. Another ambulance ride. Tests for stroke, seizures, all the things. We now believe the head injuries brought on hemiplegic migraines that can have stroke like symptoms.
We have worked with 20+ professionals including neurosurgeon, plastic surgeon, geneticist, PT, OT, Speech, Psychiatrist, Child Development specialist, Dr’s, and more. That brought us to completing genetic testing to try and get an idea of how to better support Blake. Genetic testing gave us a diagnosis right around pandemic time, provided us with some answers, more testing to complete and a new community.
The words ZTTK were introduced to us. ZTTK…. The clinical definition of ZTTK Syndrome is a severe multi-system developmental disorder characterized by delayed psycho-motor development and intellectual disability.
Blake is such an amazing little dude. He loves with all his being, he laughs with his entire body, and is always on the move. Blake has the best sense of humor, and is the most imaginative kiddo I have ever met.
ZTTK is relatively new in terms of genetic discoveries so the journey continues!