Meet Caleb! I had Caleb on September 1, 2017 at 34 weeks at a local hospital and he was taken straight to the NICU after birth. On the night of September 2nd, Caleb began having apnea events and needed stimulation to help him breathe again. He was placed on continuous oxygen therapy. On September 3rd, he was intimated and transferred to the Children’s National Medical Center in Washington DC. There he went for an MRI and they found he had a brain anomaly which later led to a genetic test that diagnosed him with Pitt Hopkins Syndrome at 2 weeks. This was by far the hardest news I have had to deal with. My world was crashed, all I could think about was my little boy laying there helplessly and what hurt the most is there was nothing I could do to take all the pain away from him. I had to accept the news and be strong for Caleb and just hope and pray for the best.

He also had a hole in his heart which thankfully resolved itself without any surgical intervention. He failed 2 hearing tests and had to go for an advanced hearing test which he passed. He was discharged 34 days later on oxygen and stayed on it for a couple months after. He had his first seizure when he was a month old and another one when he was 2 months old.

Caleb is currently 10 months old and he does not sit or roll yet and is not really interested in toys. He is currently in an early intervention program and is going through physical therapy, and sees a vision teacher and special education teacher.

It has not been an easy journey thus far. I still do not how and where I get all my strength from. I know things will only get harder as he gets older but I am ready to accept the challenge and take each day as it comes. Baby steps!! He is a happy baby and has brought a lot of joy to my family but some days are really tough.

– Nosi, Caleb’s mom

This is Victor, our precious son. Our names are Theresa and Paul. Victor was born in 2005. He has a deletion of Chromosome 18q 21.2 – 21.32 / Pitt-Hopkins Syndrome. We also have two wonderful older girls, Sofia and Francesca, who are typically developing. Our family lives in North Carolina, USA.

Victor loves to spend time with his family. He has dysphagia, which is a swallowing disorder, and now has a G-J feeding tube, placed at age 15. Victor has respiratory issues which require medications and respiratory equipment. He also developed epilepsy at age 10, but his seizures are under control after finding the right medications for him. He took his first steps at 2, and began walking independently at about 2 1/2 years old.  He needs help with curbs, stairs, and uneven ground.

Victor is very curious, and investigates all things in his environment. His receptive language is much more advanced than his expressive language. He is non-speaking. Pointing has helped Victor tremendously to let us know what he wants and to make choices, and he also uses Touch Chat on the iPad to assist with communication. We help him learn new things through prompting, repetition, and redirection. Victor loves listening to and playing music, watching favorite videos, enjoying his Playstation, using the iPad, listening to favorite books, going shopping, playing outside, swinging, kicking a soccer ball, going for walks, going to museums and many other things – he enjoys all that life has to offer. He is a joy and an inspiration to us all.

Victor’s sister, Francesca, has an Instagram account about Victor, sibling caregiving and advocacy, called @holdingvictorshand. Victor’s sister, Sofia, made a documentary called Growing Together, about the journeys of six families of individuals with developmental disabilities in the US and Peru, including our family. Victor has a blog, called Victor’s Journey, documenting his life from 3 to 8 years old. Please visit these links to learn more about Victor and our family. 

Phoebe was born on 15th October 2000, after a happy, healthy pregnancy. She is our 2nd daughter and her older sister, Chloe, is 3 years older.
Life went on, life was hectic but fun with 2 lovely girls and a busy admin job.

When Phoebe was around 6 months old her nursery teacher questioned her development and after a family holiday it was obvious to us that Phoebe was not developing the same as her sister had. Our Health Visitor agreed and we were then referred to our Paediatrician.

That’s when our journey on the Special Needs bus began! We quickly had a lovely team around us and a massive amount of support from friends and family (12 years on, that is still the case).

It was quickly decided that Phoebe was likely to have a chromosome abnormality because of some of her facial features, but it wasn’t until 2008 that our genetic consultant came round to tell us that Phoebe has Pitt Hopkins Syndrome.

In reality, having a diagnosis is great but Phoebe will always be Phoebe and we love her just as she is. To date she attends a fantastic Special Secondary School where she is working hard. She was previously at a lovely Special Primary School that were able to offer Conductive Education which was great for us to focus on to get Phoebe as mobile as she can be. She is not able to walk independently but can stand and step with support at her trunk – when she feels like it! That’s very much Phoebe’s thing and what she has taught us, it’s all on her terms. She is working hard with new communication methods but we know when she’s happy and when she’s sad. I read a fridge magnet in a shop that said “If you can talk you can sing and if you can walk you can dance”. Sorry – NOT TRUE! Phoebe spends her life dancing and singing in Phoebe’s way and it is an absolute privilege to experience life singing and dancing with her every single day.

~Sarah, Andrew, Chloe and Phoebe, Northamptonshire, UK

I am Cecilia, mother of Vera, 21 years old. Vera has an older brother, who is now studying neuroscience. We live in south of Sweden. Vera has been living in her own apartment with her assistants for one year. My body could not cope with any more sleepless nights and happily everything turned out so much better than we ever thought. We see her 3–4 times a week and she loves to be in her own place. She was tested earlier for Angelman and Rett Syndrome, but they were of course negative. I had a strange feeling that something was wrong with her already when she was a newborn, even though she had the highest apgar score when she was born. I started to see different doctors with her, but they just told me nothing was wrong, until we met a Neurologist who told us that she had Cerebral Palsy and that she would not able to walk, ever. We decided to take her to a chiropractic clinic and she made a lot of progress quickly. She could not crawl or walk when we started the treatment in July. After just a few treatments she started to crawl and she took her first steps five months later, at 3 ½ years old. Water therapy and hippo therapy have been absolutely great for her. Music is her whole life and she is going dancing and ”singing” a couple of times a month. She doesn’t talk but when she was about one year old she was saying a few words that never ever came back. Vera is a very happy individual, who laughs a lot and loves being around people. We never thought that we were going to have a diagnosis and we probably wouldn’t if it wasn’t for my father. One day when he was buying groceries he suddenly saw Vera in a wheelchair with an assistant he had never seen before. Of course it wasn’t Vera. It was Katarina, one of the two already diagnosed girls in Sweden. Katarina and her mother, Lena were on vacation in our area. Thanks to my talkative father we met Katerina and Lena at our house the day after. The two girls look very much alike, and they move and ”talk” the same way. I immediately got in contact with an genetic counselor, who had never heard about Pitt Hopkins Syndrome! A few months later we got the diagnosis of PTHS. We are very proud of our beautiful girl, so full of love.

Henry was born in 2007 after an uneventful pregnancy. Although he was jaundiced and had issues latching on, it was only when he was 8 months old and not sitting up that we became concerned. We were referred to Early Childhood Services and since that time, Henry has been receiving physical therapy, occupational therapy, special education services and speech both through the school district and privately. Originally, we were most concerned about his hypotonia, but over the years, we have discovered that his fine motor and speech skills are also very delayed.

After five years of testing and Henry being tentatively diagnosed with ataxia, a form of cerebral palsy, and PDD-NOS, we requested that Henry have whole exome sequencing done. His neurologist insisted Henry again be tested for angelman-like syndromes. In October 2012, we received a phone call from the genetic counselor that the lab found a nonsense mutation in TCF4. Finally, Henry had a diagnosis of Pitt Hopkins Syndrome.

Every milestone has been hard won. Henry began to sit up at 14 months, crawled at 2 years, started walking at 3, stood up from the ground at 3 ½, began walking up steps with one hand on the railing just this year. Many of his physical gains have been due to the wonderful impact of hippotherapy, or therapy on a horse, that Henry has been doing for over a year. Henry has more than 50 words at this time but does not combine them. He is starting to answer questions that I or his teachers ask with one word responses. With a combination of repetition, sign language, PECs and his assistive technology system on his iPad, he is becoming more proficient at communicating. However, Henry lost language (at age one, he did have a few sentences like “I love you, silly goose”) and often I can see how frustrated he feels when he tries his best to communicate and cannot do so. Although progress has been slow with various things such as potty training, riding his tricycle and swimming, we feel he will one day be able to do all of this if we bless him with our patience.

I would say, of all that he loves, Henry’s favorite thing is sharing a laugh. He’s rather mischievous, quite the stinker. Recently he has started hiding, and when we start to panic about where he has gone, he will come out of hiding laughing hysterically. He adores his books and knows his alphabet, numbers up to ten, colors and shapes, all demonstrated through pointing and the use of his iPad. Henry will dance to music and is starting to do the motions along with some of his favorite songs. He desperately wants to be one of the boys as he has two older brothers, age 10 and 8, so if they are doing something, like playing basketball, he will try his hardest to be with them.

Henry’s abilities are not what define him. He continues to amaze us with what he knows and what he can tolerate. He has taught my older children that compassion is the most important part of the equation. Henry is often the most involved child in a classroom setting but also the most loved. Henry is most concerned about others and understands the emotions of others more than most children. Henry is a funny, beautiful, strong, well-loved little boy.