Taylor Jackson

Australia

I would like to introduce myself to our ZTTK community.

My name is Taylor, I am a mum to Four gorgeous kids one of Which is my Little Rare gem and ZTTK Baby who our whole lives revolve around and we wouldn’t have it any other way!

We live in a Lovely Country Town in the Southern Highlands NSW, Australia

I love anything country, Horses, animals and would love to live in the middle of no where on acres if we could.

We love being outdoors as a family 4- wheel driving and out in nature as much as possible.

I would love to one day be able to study Nursing and become a midwife, I enjoy learning new things along our ZTTK journey and being able to help people where possible to gain as much knowledge for there own journey.

As this syndrome is so rare, there is not much education readily available to us families, either scientific, medically or practical, therefore we rely upon our own experiences to help other ZTTK families. I am looking forward to offering my help and understanding to both our new and old ZTTK buddies.

Christine Knecht

Germany

Christine ist im Juli 1980 im südlichsten Teil Sachsen- Anhalts geboren und dort auf dem Land aufgewachsen.

Sie hat einen pädagogischen Beruf erlernt, später als Hundetrainerin und in der tiergestützten Therapie ehrenamtlich gearbeitet.

Christine liebt Tiere und die Natur über alles und ist eigentlich ein echtes Landei. 

Außerdem kocht und backt sie gern. 

Vor kurzem hat sie wieder mit dem Nähen begonnen.

Zusammen mit ihrem Mann und 3 Kindern lebt sie in einer Gemeinde namens Stahnsdorf, zwischen Potsdam und Berlin. 

Dort kümmert sie sich hauptsächlich um Haushalt und Kinder. 

Christines jüngster Sohn Rouven ist ein SONnenschein und wird von ihr rund um die Uhr betreut. 

Er wurde im September 2016 geboren und im Februar 2019 kam die ZTTK- Diagnose. 

Aufgrund der Erfahrungen und Fragen, die im Leben einer SpecialNeedsMom entstehen, hat sie eine Gruppe für pflegende Mütter - Special Needs Moms Potsdam und Region - gegründet, die sich regelmäßig in einem gemütlichen Restaurant trifft und für jedes neue Mitglied offen ist.

Christines Motto ist stets "Nicht jammern! Ändere etwas!" Den Kopf in den Sand stecken, kommt für sie nicht in Frage. 

Cecilia Flynn

Ireland

Introducing Cecilia Flynn 44 years old. Wife of her long suffering husband Peter married 15 years and mother to James who is 11 years old and Sarah who is 4 years old. Cecilia is an avid runner and hiker and loves nothing better than a good book and spending time with family and friends. In her previous life she was a senior department manager in a little store know in Ireland as Penney’s and known as Primark in Europe.

Cecilia is currently full time mam and career to the gorgeous Sarah who received her diagnosis of ZTTK syndrome last June. Sarah was delivered by secluded section at 37 weeks due to the baby not growing. Sarah spent 16 days in neo natal where on day 3 it wad discovered she had a fractured tibia. Sarah came home and was failure to thrive a very difficult child to feed. At 5 months she was diagnosed with a very large asd and had open heart sugery at 6 months old. Sarah came home tube feed after her sugery. It took 6 months before Sarah could take food and drinks by mouth. To date Sarah is on pureed consistency and looks likely she may need to be tube feed. At her next peads appointment the parents where informed Sarah had in fact 3 healed fractures her hip,tibia,fibia. So the tests started. Sarah has been diagnosed with osteoporosis . She has poor muscle tone and hyper mobility.( the positions this girl can get into are not faint hearted). In December 2018 Sarah had an MRI. On Christmas day of 2018 Sarah had several prolonged febrile seizures . She had to be put on a ventilator and was in ICU for 3 days. The family received a diagnosis of extensive bilateral polymicrogyria. While this explained some of Sarahs symptoms it still left a lot of unanswered questions. Her bone and dental issues couldn’t be tied to pmg. The family received the Zttk diagnosis in June last year and it ties everything together.

Sarah is the most amazing wee warrior her smiles lights up any room that she is in and her laughter would melt any heart. She is muched loved by all who have pleasure of knowing her.

Judith Ongersma

Netherlands

Mijn naam in Judith Ongersma, 46 jaar, getrouwd met Etienne Stomp en trotse moeder van Eloy

Lewis. Wij wonen in Nederland, Drachten.

Ik ben werkzaam in het onderwijs, maar ga straks fulltime voor Eloy zorgen, omdat het momenteel

niet te combineren is.

Eloy was als baby anders dan anders. Hij had een lage spierspanning en was hypermobiel. Hij was

virusgevoelig en lag daardoor regelmatig in het ziekenhuis. De kinderarts wist niet wat er met Eloy

aan de hand was en stelde voor om bij ons alle drie bloed af te nemen voor een genetisch onderzoek.

Toen Eloy bijna 3 jaar was, kregen we diagnose: zttk-syndroom. Alles viel op zijn plek. De symptomen

die Eloy vertoonde, klopten met het beeld van dit syndroom.

Eloy gaat momenteel naar een KDC waar hij zich nog steeds ontwikkelt. Hij heeft ondertussen leren

lopen en voor de langere afstanden gebruiken wij een rolstoel.

Ook zien we Eloy cognitief groeien. Hij begrijpt het gesproken woord. Het is heel fijn dat we met hem

kunnen communiceren.

In onze vrije tijd wandelen we veel met Eloy. Hij vindt het schitterend om naar auto’s te kijken.

Touren in de rolstoelbus of auto vindt Eloy ook erg leuk.

Daarnaast gaan we 1x per week zwemmen met Eloy in een zwembad, speciaal voor cliënten van

Alliade. Hij geniet daar erg van en wij ook.

Verder zijn we vaak in de snoezelruimte bij ons op zolder. Daar kan Eloy zich even uitleven.

Eloy heeft wel moeite met harde, hoge geluiden, met name van kinderen.

We zijn blij dat we Eloy zien groeien, maar hebben ook zeker geleerd dat je moet genieten van de

kleine dingen. Dat je vooral in het hier en nu mag leven en dat geluk niet afhangt van hoe ver je het

in net leven schopt, maar wel van wie je bent.

Maryann Geelan

United Kingdom

Hi, my name is Maryann. I’m married to Andrew Geelan, and have been for 16 years. We have 3 boys Joseph 15, Thomas 13 and David 11. We live in England in the U.K. 

Each one of our boys have different diagnosis’s. They include Irlen syndrome, dyslexia, speech disorder, speech difficulties, hypotonia, hyper mobility and Craniosynostosis and many more.

David is our ZTTK child, but he wasn’t diagnosed until 2019 (9 years old). He was diagnosed with SON 1. It was our 4th genetics test when it was found, so please don’t get down hearted if you don’t get results on your first test.

 In the past, I have worked as a nursery nurse for 2 years. Working with children from birth to 8 years old. As well as this I have many years experience in education and care of children. I have also worked within the St John Ambulance for 10 years. 

I currently work on the youth team at my church. They are a fun little lot and I’m really enjoying it. In our spare time we volunteer at our local wildlife sanctuary. It’s great so see all the animals being released. It really makes it all worthwhile. 

Please feel free to ask me anything at all. My inbox is always open. But please be aware of time difference. I will try and reply as soon as  I can.

You can reach me at maryanngeelan@zttksonshinefoundation.org

Reem Hamade

MENA (Middle East and Northern Africa) Region

Reem Hamade is an English teacher with a Master's Degree in Education: Teaching English for Students of Other Languages (TESOL). She has eight years of experience in teaching different students of different levels. She has always believed that all children are unique and have something special that they can bring to their own education and their own life. She is daily inspired by her dad, husband, and their two kids: Jawad and Yara. She is a positive person who always has a smile on her face no matter what comes her way. Reem never knew that she is that strong until Yara was born, and since then she dedicated her life to teach the world about Yara and change the world for Yara. Reem's goal today is to help the world learn about, accept, and celebrate different abilities through love and with great love.

Nathalie Grataloup

France

Je m’appelle Nathalie Grataloup, j’habite près de Lyon, je suis mariée depuis 1994 et nous avons 4 garçons.

Notre second fils, Mickaël, né en 1999, est atteint du syndrome ZTTK. Comme il n’a été diagnostiqué qu’à 21 ans, nous avons dû vivre sans diagnostic pendant de longues années et avancer quand même, malgré cette errance médicale (ce fut difficile, spécialement lorsqu’il fallait compléter les dossiers administratifs liés au handicap, sans pouvoir mettre un nom sur sa maladie que nous devions du coup décrire le mieux possible pour être compris). Aujourd’hui, notre fils est adulte et nous sommes ses tuteurs (habilitation familiale) car il a un niveau psychomoteur évalué entre 18 et 36 mois.

 S’il n’est pas malade, c’est un jeune enjoué, toujours content et très attachant. Il aime beaucoup marcher, observer et chantonner. Maintenant que Mickaël a grandi, il est moins souvent malade (ouf !). Il vit en établissement pour adultes handicapés (notification FAM) et nous le récupérons environ 3 week-ends par mois et pendant nos vacances.

Mon but aujourd’hui :

*      faire mieux connaître le syndrome ZTTK dans le monde (via LinkedIn par exemple) pour que les équipes médicales s’y intéressent davantage, en sachant qu’il y a plus de cas dans le monde que ce qui est annoncé sur internet et, dans l’idéal, que les parents concernés trouvent plus facilement des réponses à leurs questions.

*      Je souhaite organiser d’autres rencontres entre familles françaises ou européennes afin de faciliter nos échanges et surtout mieux nous connaître (j’ai déjà organisé un après-midi ensemble à Paris le 23/09/2023 et c’était très sympa de voir les sourires de tous nos SONshines !)

Je propose aussi de vous faire profiter de mes nombreuses années d’expérience ZTTK  afin que les familles avec de jeunes enfants évitent nos erreurs, gagnent peut-être du temps et profitent aussi de ce qui a bien marché pour notre fils. Cependant, comme pour tout un chacun, chaque enfant ZTTK est différent et a ses propres besoins donc ce qui s’est révélé vrai ou faux pour notre fils ne le sera peut-être pas pour les autres enfants ZTTK => mes conseils ne resteront donc que des pistes à explorer … ou pas ! 😊

Adela-Elana Stoica

Romania and Italy

Bună ziua

Sunt Adela mama lui Nicolo Pop în vârstă ade 4 ani și 3 luni. Eu am 37 de ani m-am născut în România. Eu sunt absolventa Facultăți de Medicina dentara din România. De 10 ani eu și tatăl lui Nicolo(nu suntem căsătoriți) ne-am mutat în Nordul Italiei. Aici locuind într-un oraș micuț am găsit de munca doar ca asistenta dentara și lucrez parte time. Nicolo e unicul copil. Eu sunt o fire liniștită care vorbește puțin din acest motiv va scriu asa puțin. Va mulțumesc pentru tot ajutorul care ni-l oferiți!

Dr. Zahide Alaçam

Turkey

Member of the ZTTK Medical Advisory Board

Merhabalar, Ben Zahide Alaçam

Türkiye’de bilinen ZTTK sendromu tanılı 2 çocuktan birinin annesiyim. Türkiye’de Denizli şehrinde yaşıyoruz. Evli ve 2 çocuk annesiyim. Büyük oğlum Ömer ZTTK sendromu tanılı. Ben Göğüs Hastalıkları doktoruyum, eşim ise psikiyatri doktoru. Doktor olmam nedeni ile ZTTK son-shine vakfının hem Türkiye temsilcisiyim, hem de ZTTK sendromu medikal danışma kurulu üyesiyim.

Ömer için tıbbi anlamda neler yapabileceğimi araştırırken fonksiyonel tıp ve fitoterapi ile ilgilenmeye başladım.

Oldukça nadir görülen bir sendrom olması, henüz 2016 yılında tanımlanmış olması ve tanı yöntemlerine ulaşmakta güçlük olması nedeni ile bu sendromun tanı alma oranları oldukça düşük. Biz ikimiz de doktor olmamıza rağmen, oğlumuz anca 6,5 yaşında tanı alabildi. Türkiye’de hekimlerden oluşan sosyal medya platformlarında ZTTK sendromu ile ilgili farkındalığı arttırabilmek için paylaşımlar yapmaya çalışıyorum.  Sendromun tıp dünyasında bilinirliği artarsa tanı oranlarının artacağını düşünüyorum.

Oğlumun ZTTK sendromu tanısı alması ile çıktığımız bu yolda, dünyanın diğer ülkelerinde bizimle aynı kaderi paylaşan diğer çocuklar ve aileleri ile tanışmış olmamız büyük bir lütuf oldu. Önce sosyal medya grubu, şimdi ise dernek ve web sitemiz ile yeni tanı alacak ailelerin yalnız olmadığını hissettirmek, yaşadığımız deneyimleri paylaşmak çok daha kolay olacak. ZTTK son-shine derneği Türkiye temsilcisi ve ZTTK sendromu medikal danışma kurulu üyesi olarak Türkiye’de yeni tanı alacak aileler için medikal ve sosyal anlamda elimden gelen her türlü desteği vermek benim için mutluluktur.

Michiel De Wolf

Belgium

Maria Fredrikson

Norway

Maria er mamma til tre fantastiske barn, Bjørnar, Mia og Eilif. Hun bor sammen med sin mann Jan Håkon, i Arendal. Sør i Norge. Maria jobber som Ambulansefagarbeider. Jan Håkon er lærer. 

I 2016 blir Mia født. Hun utviklet seg veldig sakte, å mye tydet på at noe ikke var som det skulle. I 2018 fikk hun ZTTK diagnosen. I 2021 fikk hun også epilepsi diagnosen. Mia er en solstråle og en verdens søteste ballerina!

Maria elsker å bruke tid med sine barn. Ellers bruker hun mye tid i hagen, å i drivhuset sitt, store deler av året.

Click here for the English translation.

Please contact Maria at mfredrikson@zttksonshinefoundation.org.

Željka Domović

Croatia

Željka Domović lives in the small town of Kloštar Podravski 100km away from the capital Zagreb in Croatia. She completed her studies in Business Economics at the University of Zagreb. Current employment in the bank in retail banking. Married, mother of three girls, committed to their upbringing, education and daily small and large family activities. She loves to sing, actively participates in church choirs and Sunday Masses. After the diagnosis of the eldest daughter, she goes in search of people with similar or the same diagnoses, and joins the FaceGroup ZTTK son shine, where she finds answers to many of her vital questions. For this reason, she is applying for the role of Croatian Ambassador, in order to help possible newly diagnosed families.

Ola Habiak

Poland

Mam na imię Ola i jestem mamą, która od 2017 roku szuka sposobów leczenia syna z chorobą rzadką tzw. syndromem ZTTK.

Można mnie spotkać na mamaszukazdrowia.pl.

Wierzę, że codziennie budzimy się w nowym świecie, lepszym technologicznie, co pozwala innej osobie zrobić krok, który będzie milowy w leczeniu, usprawnianiu mojego dziecka.

Nie ma rzeczy niemożliwych – trzeba tylko do nich dotrzeć!

Click for English Translation

Vanessa Sogalho

Portugal

Vanessa Sogalho moro em Portugal, na Amadora com o meu marido Rui e com os nossos dois filhos a Carolina de 13 anos e o Rafael, o nosso ZTTK SON-shine de 9 anos. O Rafael nasceu em março de 2014 e só em 2019 depois de muitos testes genéticos se descobriu que ele pertencia à família ZTTK Son, foi uma alegria saber finalmente o que ele tinha e um terror perceber que em Portugal nada se sabia sobre a sua síndrome, a 1ª informação foi que era o 1º caso diagnosticado em Portugal. Comecei a pesquisar na internet e descobri o nosso grupo (família) que nos tem ajudado essencialmente a perceber que não estamos sozinhos.

Sou professora de 1º ciclo, adoro criança, trabalhos manuais, música e viajar e o Rafael também e para além disso adora animais, tem uma paixão imensa por todos os animais.

Ricardo Navajas Ortega

Spain

Soy padre de dos niños: Tristán (11 años) y Guillermo (5). Después de muchas pruebas y muchos descartes , Tristán fue finalmente diagnosticado con Síndrome ZTTK en 2019 , en su segunda prueba genética en el Hospital Materno Infantil de Málaga.

Trabajo como bibliotecario en la Universidad de Málaga. A pesar de las dificultades disfrutamos mucho con nuestros niños. Tristán es un niño muy cariñoso.

Muchas gracias por vuestra atención, espero servir de ayuda y aprender de
todos.

Frida Knutson

Sweden