There are around 60 diagnosed patients around the world, meet some of them...
born in 2021 | Poland
24 grudnia 2021 Lenka była zdrowym trzymiesięczniakiem. Jej bogata mimika rozbawiała nas do łez, fotogeniczność rozczulała serca, a temperament upewniał, że będzie umiała walczyć o interes swój i swojej spokojniejszej siostrzyczki bliźniaczki. Wrożyliśmy jej karierę modelki, aktorki lub kogokolwiek kto łatwo zjednuje sobie ludzi. W pierwszy dzień świąt rano obudził nas krzyk. Na rękach u mnie, swojej mamy, Lenka miała swój pierwszy napad padaczkowy. Dziś sześciomiesięczna Lena ma za sobą 52 napady skumulowane w 7 pamiętnych dniach. Wciąż jednak jest niesamowicie pogodnym dzieckiem i wciąż wierzymy, że jeszcze wszystko przed nią. On Dec 24th 2021 Lena was a healthy three months old. Her rich facial expression cracked us up, her photogenicity touched our hearts and her temperament assured that she would be able to fight for her own and her calmer twin sister's interests. We anticipated her career as a model, actress or anyone who easily attracts people. In the morning on the first day of Christmas a scream woke us up. In my arms Lenka had her first epileptic seizure attack. Today, six-months-old Lena went through accumulated 52 seizures in 7 memorable days. She is still a sunshine and we still believe she can achieve anything. Phenotype as of Feb 2023: - hypotonia - grand mal seizures (2x in clusters of 30/20 episodes + 5 single spontaneous episodes in different days) - controlled since 7 mo - small cerebellar dysgenesis - delayed fine motor skills (started self-feeding by age of 16 months) - delayed babbling (at age of 14 months) - oral hypersensitivity (started eating bigger pieces of food by age of 16 months) - first steps at age of 15-16 month (still quite shaky but walks more than crawls) - delayed pointing-out with finger (at age of 16 mo) - delayed speech - delayed social skills (eg. separation anxiety at age of 13 months) Treatment: - oxcarbazepine (5,2ml / day) (earlier on levetiracetam which did not fully control seizures by itself, then, for 8 months in politherapy with oxcarbazepine, currently weaned off) - Other: * supplementation due to prematurity: iron + B6 + B12 + folic acid + vit C * Coenzyme Q10 Therapies: - NDT-Bobath (motor skills) - Vojta (motor skills) - speech neurologist consultations - speech-cognitive training with "Metoda Krakowska" - alternative communication (since 1 year old) - sensory excercises (including swimming pool)
born in 2021 | US
Meet our daughter Addisson. She is the sweetest little girl a mother could ever ask for, and you couldn’t even tell she has anything going on. My pregnancy was flawless, no issues, nothing alarming and was completely normal. April 8, 2021 she was born via C-Section as she was in the breech position. The day after she was born, she was rushed off to the NICU due to hypoglycemia, however they were able to get it under control that day. The next day though she was having episodes that I already knew were seizures, but the nurses and doctors didn’t think I was correct. She continued to have these episodes but they told us everything was fine and we were released home. The next morning at our house, she became unresponsive and a quick call to 911 and she was carted off to Yale Hospital. An EEG confirmed she was having seizures and she was admitted to the pediatric neurological floor for closer monitoring. She was seen by a genetics group and was tested for thousands of genetic issues. After a month of being in the hospital, they found an anti-seizure medication that helped stop them and we were finally able to go home. After a few weeks of being home, we got a call from her genetic team and we found out she has PACS2. This causes a multitude of delays and that it is very diverse in how it effects each child. We were learning quickly Addie was having delays with fine and gross motor skills, eating problems and digestive issues. She has trouble grasping objects, not eating as she should, not crawling/walking yet, and not saying many words. She is linked up with occupational therapy, physical therapy, and speech therapy to help with her difficulties. Though she has made wonderful progress, we are able to see the effects of PACS2. She also sees GI, sleep specialist, and other doctors to ensure she is getting the best possible care. It is a lot, but we would do anything for our baby girl. We don’t know what her future is going to look like as there is not a lot of research on PACS2, but we are ready to tackle it as best we can. Phenotype as of Apr 2022: - grand mal seizures (since 7 months seizure free) - delays with fine and gross motor skills - eating problems + digestive issues - disturbed eye-hand coordination Treatment: Onfi (clobazam) 2mg x2 Therapies: - occupational therapy - physical therapy - speech therapy - gastrointestinal specialist consultations - sleep specialist consultations
born in 2014 | Poland
Mateusz urodził się w 2014 roku tuż przed świętami Bożego Narodzenia, jako nasz wymarzony synek. Pomimo, że dostał 10 punktów w skali Apgar od pierwszych godzin po porodzie mieliśmy przeczucie, że coś jest nie tak… Pomimo, że urodził się o czasie (w 38 tygodniu Hbd) miał cechy wcześniacze takie jak brak koordynacji ssania i oddychania podczas jedzenia, zbyt małe bruzdy na stopach oraz retinopatię wcześniaczą (ROP). Z powodu małych anomalii w wyglądzie (małpia bruzda, biały i ciemny kosmyk z tyłu głowy) był konsultowany przez genetyka, ale to samo w sobie nie wskazywało na potrzebę rozszerzonej diagnostyki. W pierwszym tygodniu życia zaczęły pojawiać się incydenty, kiedy tracił przytomność, krztusił się i siniał w trakcie jedzenia. Teraz wiemy, że były to wczesne napady padaczkowe. Dopiero po miesiącu, kiedy incydenty pojawiały się coraz częściej, zostały zdiagnozowane jako napady padaczkowe. Tak rozpoczęła się też nasza wędrówka po gabinetach lekarskich, terapiach i dalsze badania. Przez pierwsze pół roku lekarze próbowali dopasować leki przeciwpadaczkowe, niektóre działały, ale mogły być stosowane tylko tymczasowo, inne nie działały lub nawet pogarszały sytuację. Najsilniejszy epizod napadów przypadł na wiek 6 miesięcy, po którym Mateusz wrócił rozwojowo do stadium noworodka. Na szczęście krótko potem udało się dopasować lek i do tej pory były to ostatnie napady jakie miał. Z powodu epilepsji rozpoczęliśmy rozszerzoną diagnostykę genetyczną. Początkowa diagnoza okazała się błędna i dopiero po ponad trzech latach - w czerwcu 2018 roku (chwilę po publikacji pierwszego artykułu o dzieciach z tą wadą) dowiedzieliśmy się o mutacji w genie PACS2 u Mateusza. Sama diagnoza nie leczy, ale mając ją rozpoczęliśmy kolejny rozdział. Nawiązaliśmy kontakty z rodzicami innych dzieci, ośrodkami naukowymi i zaczęliśmy działać z nadzieją, że jeżeli nie my to może inni doczekają znalezienia leku. Od pierwszych miesięcy życia Mateusz ciężko pracuje i my razem z nim by osiągnąć jak największą samodzielność. Mateusz uwielbia muzykę i wodę. Przy ulubionych piosenkach każda terapia jest przyjemniejsza. Mieliśmy szczęście i trafiliśmy na terapię ruchową na basenie, która nie dość, że sprawiała mu ogromną radość, to dzięki niej Mateusz nauczył się chodzić. W porównaniu z innymi naszymi dziećmi Mateusz do początku rozwijał się widocznie wolniej. W chwili obecnej jego rozwój motoryczny jest opóźniony, ale ciągle idzie do przodu. Ruchowo w niektórych aspektach nie odstaje dużo od dzieci w swoim wieku, ale ze sprawnością rąk i intelektualnie jest wyraźnie gorzej. Mateusz - podobnie jak inne dzieci z PACS2 ma zaburzenia ze spektrum autyzmu. W chwili obecnej nie mówi i nie ma wypracowanego spójnego mechanizmu komunikacyjnego, co jest problemem w jego dalszej rehabilitacji. Stosunkowo długo próbowaliśmy różnych metod terapii mowy i za późno rozpoczęliśmy zajęcia komunikacji alternatywnej AAC. To z nimi wiążemy teraz największą nadzieję na rozwój Mateusza. Pomimo wielu problemów zdrowotnych i rozwojowych Mateusz jest niesamowicie pogodnym dzieckiem, a jego uśmiech osładza nam każdy dzień. -- Mateusz was born in 2014 - just before Christmas, as our awaited son. He got 10 points on the APGAR scale, however, we felt that something was wrong. Although born on time (38 weeks Hbd) he had prematurely born symptoms like lack of breathing coordination during feeding, smooth skin on feet, and retinopathy of premature (ROP). Due to mild physical anomalies (‘simian crease’, dark and light hair locks on the back of the head) he was consulted by geneticists, though this on its own hasn’t indicated the need for further diagnostics. In his first week of life incidents during feeding were observed that he lost consciousness, choked, and turned blue on his face. Now we know that those were early signs of epileptic spasms. Only after a month when such incidents appeared more frequently were they diagnosed as epileptic spasms. So our journey from doctor to rehabilitation and further examinations started. During the first half-year of life, doctors tried to find the right medicines, some of them worked but could be used only temporarily, and some didn’t work or even worsened the situation. The most severe epileptic spasms episode happened when he was 6 months old, after that he regressed to the newborn stage in development. Luckily shortly after, the right medicines were found and up until now those were the last epileptic spasms that were observed. Due to epilepsy we have started extended genetic diagnostics. The initial diagnosis turned out to be wrong and only after more than three years in June 2018 (shortly after the first article about children with this mutation was published) we have found out that Mateusz has a mutation in the PACS2 gene. Diagnosis at that time didn’t allow any treatment, but having it we started another chapter. We established contact with other parents and universities and started acting hoping that if not us, maybe other children will benefit from finding a cure. Since his first months, Mateus works hard and us with him towards getting him independent in the future. He loves music and water. With his favorite songs, any therapy is more pleasant. We were lucky to find motoric therapy in the pool that not only made him very happy but thanks to it he learned to walk. Compared to our other children Mateusz since the beginning was developing visibly slower. At the moment his motoric skills are delayed but he moves forward there. Motorically in some aspects he does not differ much from children of his age, but his fine motor and intellectual skills are significantly worse. Mateusz - like other PACS2 children - has ASD. Currently, he does not speak nor has a consistent communication channel, which is the biggest obstacle to further intellectual rehabilitation. Relatively long we have tried various speech therapies and fairly late started alternative communication (AAC). Currently, this is the strongest focus and we have high hopes for it. Despite many health and development problems, Mateusz is an exceptionally cheerful child, and his smile sweetens the day. Phenotype as of May 2022 (7 and a half years old): - ASD - hypotonia - Tonic-Clonic (grand mal) seizures (free since 06.2015 on Depakine and free from Depakine since 12.2018) - delays with fine and gross motor skills - pseudotumor cerebri - hypothyroidism - astigmatism and hyperopia - eating problems - food intolerance - constipations - sleep problems - mild facial and hand dysmorphism and pigmentation issues (white and black hair patch on the back of the head) Treatment: - Letrox (Levothyroxinum natricum) - Diuramid (Acetazolamidum) - vitamin D3 - melatonin Therapies: - physical therapy - osteopathy - hippotherapy - speech therapy + AAC - SI - TDCS (transcranial direct current stimulation) - BAC (bioacoustic correction) - water therapy (in the past but due to ear infections we had to cease)
born in 2021 | US
Meet Luciano Angelo, born on October 27, 2021. Luciano is our third son. We have twin boys who were born in October, 2017. Luciano is named after his father’s grandmother (Lucy) and his mother’s grandfather (Angelo). The name Luciano means ‘light’ and Angelo means ‘angel,’ the perfect name for our little boy. Luciano went home perfectly fine, easier than when his older brothers came home from the NICU almost five years ago. However, five days after birth he had his first “episode.” After explaining what the episode had looked like to his doctors, they concluded it was acid reflux. After that first episode, Luciano had three more episodes. I was able to take a video of the last one and messaged his pediatrician. The pediatrician then sent it to the neurologist and called us to bring him to the emergency room. After being put on an EEG and having another episode, the doctors confirmed they were seizures. Luciano then went under many tests, including MRI, spinal tap, blood work and head scan, all coming out negative. One last test was done, genetic testing, which would not come back for another two weeks. Luciano was put on Phenobarbital to control the seizures ever since that night. Two weeks went by and after thinking it was just neonatal epilepsy, we found out the diagnosis was a gene called PACS2 which our neuro never even heard of. Throughout that whole conversation we heard the phrases, developmental and intellectual delays and facial dysmorphia. After researching the gene and not finding many answers, we took Luciano to Boston Children’s Hospital where we met with Dr. Heather Olson who took part in finding this specific gene in 2016. The four hour drive from New York to Boston was worth it, especially since Luciano happened to have another seizure the morning of our trip! This was three months after his diagnosis and we realized it could have been the result of the Phenobarbital medication needing an increase. Dr. Olson, along with Dr. Wiltrout and the genetic counselor spoke with us explaining their findings of this gene. Since it is fairly new, there is not much about it. We were told to get his other organs checked to make sure they developed correctly, get him evaluated for Early Intervention to watch his milestones and keep control of his seizures. And we did just that. His echocardiogram, abdominal ultrasound and eye exam came back great. He automatically qualified for Early Intervention because of epilepsy and is getting physical therapy. He has mild low muscle tone and is currently 8 months old. He will be getting surgery this July because of an undescended left testicle which I happened to read in one research study of PACS2, but not sure if it is related to the gene. We would like to find more answers and be involved with the research process. We are currently enrolled in the Boston Children’s Hospital research study. Treatment: Phenobarbital Therapies: Physical therapy
born in 2011 | Germany
In case of questions, Theo's parents are open for contact: email@example.com. Meet Theo, our second son. We live near Stuttgart in Germany. He was born in May 2011 via c- section after a relatively “normal” pregnancy. On the fifth day of his life, he was rushed to intensive care due to a seizure – just as his parents were getting ready to take him home to meet his big brother Emil. He was sent to a children's hospital where initial treatment with Luminal started. It helped calm the seizures but it dulled him down quite a bit. First diagnosis was newborn or fever cramps which would soon stop. But in the first six months of his life, a development delay became apparent. It was mostly hypotension as he could not hold his head up or turn around on his belly. Around Christmas 2011, more grand mal seizures occurred and we went back to the children’s hospital in Böblingen where once again Luminal was applied. In May 2012 we decided to consult the experts of the epilepsy centre Mara in Bielefeld Bethel. The hospitals there are amongst the best when it comes to seizure treatment as the “Bodelschwingh Foundation” dates back to the mid 19 th century. Furthermore, it proved a great asset to have family and friends close at hand in the numerous weeks of hospitalization which would follow… The diagnosis of epilepsy with an unknown cause was clear. At age one, Theo underwent his first rehab and was taken off of Luminal over a course of 6 weeks where he suffered from withdrawal symptoms. We switched to Keppra. Unfortunately despite it’s generally good record and little to no side effects, Keppra did not do the job and we tried Ofiril/Valproat in fall of 2012. It is generally a proven medication and did a good job in keeping seizures down. However, in very rare cases it leads to liver malfunction – guess what, we were one of those very rare cases! Despite close monitoring of blood levels and liver function, Theo almost died from side effects (luckily, he fully recovered!). In between we tried numerous other meds with either no impact or severe side effects. During this time, Theo was generally limp, would not speak or move much. Furthermore, he was extremely touch sensitive, he would not touch grass or sand and he was a picky eater. Since February 2013 we were on Topiramat. It worked OK, but had severe impact on speech. So by June 2015, we and the doctors decided to give the ketogenic diet a shot… And Keto did the trick! For the first time in his life, Theo was no longer having seizures nor side effects from medication. For those who are as unfamiliar with keto, it a diet where most of the energy consumed comes from fat. It basically simulates starving (no, kids do not go hungry!) and the whole organism and especially the brain is switched from carbs/sugar to ketones. They have less energy per unit and thus are less likely to cause the neurons in the brain to fire uncontrollably. Basically like switching an engine from gasoline to diesel… (for a more through and scientifically correct explanation, consult your doctor!). We were really happy with the newfound peace and soon got the hang of cooking with 4 units of fat over everything else… so consult us if you have any questions. Theo thrived in Kindergarten and slowly but surely started to crawl, walk, babble, speak! By April 2017 however he would no longer tolerate being stuffed with a thin slice of bread covered in butter and triple load of salami on top. And who forces extra fat chocolate into a kid when he asks you “Daddy, I want an apple.”? So once again, we searched for medication and Keto bought us the time to slowly introduce Lamotrigin. Ever since, he has been on a rather low dose of 50/0/25 mg and it works fine for him, even at the lowest possible dose. The EEG still shows seizure potential, so so far we have not changed a thing. All through this journey, Theo was and is a very positive, outgoing boy with a big smile. Ever since he started talking, he surprises us with very witty remarks and a sarcastic charme. He loves playing with Legos (especially Ninjago), knows every Pokémon and recites the best lines from his favourite TV shows such as Paw Patrol or Bob the Builder. Playing with tablet computers improved his fine motor skills and talking to Amazon’s Alexa was good for his speech development. To avoid the impression that our kid’s are raised by the media, we did a lot of therapy with him as well: Physical and speech therapy, horseback riding and swimming. But the best therapy was having him in a regular kindergarten where an inclusion coach helped him along. Since first grade, Theo is an a special education school, but together with regular kids – a concept which we love and fosters him in any way. Theo is well integrated with friends an family and everyone enjoys him around. Thinking back of the hard times when doctors prepared us that he may not walk or talk, we are extremely proud of our friends & family, our doctors, teachers and therapists and of course Theo himself. Seeing him run, swim or ski is a great accomplishment and we are sure there will be more to come. To cut this long story short: - You are on a very special quest. Even with the diagnosis, some treatments work others don’t. There is no paved road to success, but you will make progress. Try out different things, trust your doctors - Build a web of doctors, therapists, family and friends (including those you meet online) - Trust your kid: They will amaze you every day! Phenotype as of May 2022: - Epilepsy with epileptic encephalopathy, seizure free since 2014 - global development delay with minor intelligence deficit - hepatopathy - hypoplasia of the cerebellum - kyprtorchism (treated) - oral motor disorder with oral hypersensitivity - flat foot - development delays Treatment: Lamotrigin (50/0/25 mg) Therapies: - occupational therapy - physical therapy - speech therapy - riding therapy
born in 2021 | Chile
Hola, soy Gustavo Ricardo, nací el 2 de octubre de 2021 en Punta Arenas, Chile. Tengo 3 hermanos mayores que me aman, cuidan y estimulan. Dos días después de nacer, llegué a mi casa y tuve mi primera crisis, que parecía ser apnea y me llevó de vuelta al hospital. Después de múltiples exámenes y convulsiones epilépticas, a los 5 meses mis padres supieron que tengo la alteración genética PACS2 (c.631G>A (p.Glu211Lys)). Los tratamientos han ido variando y actualmente mis medicamentos para la epilepsia son carbamazepina, levetiracetam y clobazam. Además, recibo kinesioterapia y terapia de fonoaudióloga. De los síntomas descritos para esta alteración, he presentado convulsiones epilépticas tempranas, de difícil medicación, criptorquidea de mi testículo derecho e hipotonía. Felizmente he estado estable desde fines de febrero y en agosto próximo seré sometido a una cirugía para liberar mi testículo. -- Hi, I'm Gustavo Ricardo, I was born on October 2, 2021 in Punta Arenas, Chile. I have 3 older brothers who love, care and support me. Two days after I was born, I got home and had my first seizure, which seemed to be apnea and took me back to the hospital. After multiple tests and epileptic seizures, at 5 months my parents learned that I have the genetic mutation in PACS2 gene (c.631G>A (p.Glu211Lys)). Treatments have been changing and currently my epilepsy medications are carbamazepine, levetiracetam and clobazam. In addition, I receive kinesiotherapy and speech therapy. Of the symptoms described for this mutation, I have presented early epileptic seizures hard to control, cryptorchidism of my right testicle and hypotonia. Fortunately I am seizure free since the end of February and next August I will undergo surgery to free my testicle.
born in 2017 | UK
I fell pregnant in 2016 and had the best pregnancy, all scans were normal except at 36 weeks when my water disappeared. Quite literally, as I didn’t leak any! Even though this had happened I still had to wait another week until Darcie entered the world through an emergency section. I was a first-time mum, but I just had a feeling that something was wrong, she was so lethargic and very swollen. At 3 days old I noticed seizure activity which I was continuously told was wind! I’m so thankful to the midwife who witnessed the end of one and this resulted in Darcie being admitted to the neonatal high dependency. Darcie had all manner of tests done and her ECG showed a lot of seizure activity, 18-20 a day!! The question was why and what was causing them?? When she was 6 weeks old, we eventually found a medicine called “Carbamazepine” which helped reduce her seizures and we got to bring her home. In the following weeks/months Darcie was in and out of hospital constantly due to feeding challenges (GERD). This eventually led to tube feeding and during this process it was discovered Darcie had a floppy windpipe causing stridor (noisy breathing). Darcie has some slight distinctive facial features which lead specialists to believe a genetic cause was the underlying issue. When Darcie turned 3, we were invited to try a new genetic test known as TRIO Development Exome Sequencing which, amongst other tests etc, resulted in the PACS2 development disorder diagnosis. This disorder is so rare that there is very little known about it. We were told around this time that Darcie may never communicate, sit, crawl or walk but she astounds and delights us every day when she reaches some of these milestones, albeit later than most other children. Darcie is now 5 years old, she has been diagnosed epileptic and has breakthrough seizures when meds need to be increased or when she is unwell, she has delays with fine & gross hand-eye co-ordination and has a special wheelchair. Darcie can be very repetitive, still has issues with solids and eats foods blended smooth, any lumps cause boaking and extreme stress, she detests mess or spill especially on her hands or face. I must spoon feed her as trying herself just causes her distress and she’s not long in letting me know it! To date Darcie can stand unaided for a couple of minutes and we will be trying a new walking frame soon, (she does still prefer a bum shuffle). Darcie’s speech is coming along slightly but she more copies everything we say to her. Her understanding is perfect, she is a clever wee cookie, on the learning electronic games she loves numbers, colours and letters, finding delight in showing how she knows them. Her all-time favourite thing at the moment is anything vehicle related, she loves when her dad takes her to see the tractors and diggers at his work😊 She knows Makaton and some of the words she uses are understandable. We are fortunate that we have access to and help from health professionals like physiotherapy, occupational therapy, we also see a sleep consultant as Darcie has sleep issues and can be awake most of the night. This August Darcie will be attending a special needs school in our wee town, and we have every faith that her new school will help her to continue to progress with and achieve so many more milestones. We hope our story helps to give people a better understanding of PACS2 and a little more insight into how things are for Darcie. We are unsure of what the future holds, we know we have many obstacles in our path, but we have high hopes that our special little girl shall overcome them with that cheeky wee smile of hers firmly in place.
born in 2019 | US
Henry was born on April 15, 2019, as a healthy and happy baby. At 4 weeks old, he had his first seizure. We spend the next few months in and out of the hospital attempting to find a cause and to treat his epilepsy. Henry underwent a multitude of tests including an EEG, spinal tap, blood work, and an MRI that couldn't diagnose the problem. We started treating the seizures and finally found a combination of medications that worked to keep him seizure free right around his first birthday (Phenobarbital, Keppra, and Trileptal) . We have since weaned him off two of the three medications. As of his last EEG (Aug 2022), there was still activity in his parietal lobe consistent with epilepsy. We will repeat the test in a year and revisit weaning his medication based on the results. He continues to take Trileptal twice a day. At Boston Children's Hospital, we were referred to a geneticist for additional testing and shortly after received Henry’s official diagnosis of PACS2. He has been in Occupational therapy since he was 6 months old and we eventually added speech and physical therapy. At 18 months, at his neurologist's recommendation, he was evaluated and diagnosed with Autism Spectrum Disorder. We now receive ABA therapy in addition to his other therapies. Henry has also started a preschool program, doing half days since his third birthday. He loves it and is thriving! He has global delays and is nonverbal, but we are working on basic sign language, speech and begun using an ACC device/photos to help him communicate. He has been working hard on mastering these skills. Henry is the happiest, sweetest and snuggliest boy. Everyone who meets Henry falls in love with his laid back and silly nature. He loves to swing, jump and climb and loves being outside as much as possible. We love watching him constantly progress and can’t wait to see what's in store for him in the future. Phenotype as of October 2022 ( 3.5 years old): - ASD - global delays - focal Seizures (seizure free since June 2020) - epilepsy - particular about food textures and flavors but getting better at exploring new options Treatment: - Trileptal 2x a day Therapies: - Physical Therapy - Occupational Therapy (school and private) - Speech (school and private) - ABA Therapy
born in 2006 | UK
Kate was born on 10th July 2006 (her due date) following a perfect pregnancy. Her APGAR score was 10 / 10. She was our first baby and we were so excited for her arrival. We spent 2 nights in hospital and one full night at home. On Katie’s 4th day of life she started stiffening and I was concerned about this. I was assured by the midwives it would be reflux and nothing to worry over However, that evening Katie experienced an episode which was more obviously a seizure. We rushed her to our local hospital where she continued to experience seizures. The doctors described her seizures as ‘tonic-clonic’ and as unseen in such young babies. Katie was given a lumbar puncture, CT scan and MRI scan yet no concerns were raised. Katie’s condition worsened and she stopped feeding so required a nasal-gastric tube. After a week we were transferred to Alder Hey, Liverpool’s specialist children’s hospital onto the Neuro-Medical Ward. Katie was prescribed a variety of anti-epilepsy medications which were not effective until she was prescribed a combination of Vigabatrin with Keppra. Slowly Katie’s seizures started to improve over a few months and her feeding tube was removed as Katie was taking a bottle. The Genetics team carried out hundreds of tests which were inconclusive, given the PACS2 mutation had not been identified at that point. Between around 6 to 24 months Katie’s fits would come along in clusters and affect her feeding so we would need to return to hospital. Katie’s development was very slow and it was clear that she was not hitting her milestones. We tried many therapies including physio programmes, patterning and conductive education. We have continued with all with the exception of patterning. Katie attends a school for children with severe learning difficulties. She is very happy there. Unfortunately, Katie has not gained any independent mobility or any communication. Katie is very expressive through vocalisations and expression. She attends a specialist Conductive Education Centre weekly for therapy sessions which are so helpful and have built Katie’s strength and skills. Katie also receives private physiotherapy at home on a weekly basis. Katie also goes to Riding for the Disabled weekly which has improved her core strength. Katie has a gastrostomy for fluids as she used to struggle to drink the required amount but really enjoys eating but her food needs to be soft and mashed. Katie’s sleep was very much up and down when she was younger but she’s much more settled and ‘teenage’ like nowadays. Katie has a busy, happy life and has a younger sister and brother. I’m delighted to say she has not had a seizure since she was 5 years old. Katie is remarkably healthy with very little illness and no longer has spells in hospital. Phenotype: •severe visual impairment (cortical VI & astigmatism) •tonic-clonic seizures (fit-free for 11 years) •hypotonia •facial & hand dysmorphia •hole-in heart as baby which self-corrected •cardiomyopathy which self-corrected •ongoing borderline long QT syndrome (cardiac) •continued slight scoliosis of the spine •severe learning difficulties •severe fine & gross motor skill development •No mobility or communication Medication: •Keppra & Vigabatrin (ended 2010) Therapies: •Conductive Education •Riding for the disabled •Physiotherapy •Standing frame •Patterning (ended) •Speech & language (ended)
born in 2021 | US
Hudson stole our hearts and changed our lives for the better when he was born on September 22, 2021. He is full of so much joy, kindness, laughter, strength, and the best snuggles. The amount of love that flows through your heart when you welcome your first child is truly indescribable, each day greater than before. Hudson experienced his first “episode” in December 2021, when he was eleven weeks old. This traumatic experience led us to a hospital stay that held many tests that were very heavy on the heart. Seven months later, Hudson experienced his first set of breakthrough seizures which led to more tests and medicine dose changes. Then, again, a few weeks later more breakthrough seizures – and finally, on his very first birthday a phone call that held the answer behind the seizures and global development delay – a gene mutation involving PACS2. This April, we will fly to Boston Children’s Hospital for greater guidance and understanding of PACS2. Through our journey, we hope to help other families, who may share similar medically complex experiences, to know that they are not alone. We are unsure of what the future holds, but we do know that Hudson holds the strength and unconditional love behind him to tackle any obstacles that come his way. Current Medication: - Vimpat - Keppra - Onfi Current Therapy: - Physical - Dynamic Movement Intervention (DMI) Therapy - Hudson reponding very well! - Occupational - Speech/Feeding