These are stories about children and adults with Pitt Hopkins syndrome.  They were written by parents and reflect the lessons of love we learn through our children. They are all precious, unique, and loved by their families and by everyone who is blessed to know them.

Matthew

MatthewphotoMatthew9MatthewbabyWhen I was pregnant with Matthew I was put in the hospital at 32 weeks because I was dilated to about a 4. My gyn doctor was worried that I’d have the baby at home if I wasn’t hospitalized. So after being in the hospital for a total of 4 weeks, my high risk doctor decided to do an amnio test to see if the baby weighed     enough and that the lungs were mature. So I was allowed to have Matthew at 36 weeks and once my water was broken, Matthew came very quickly! He weighed 6 pounds 2 oz and was 18 1/2 inches long. As far as I was concerned he seemed very normal and nursed very well. We always referred to him as being such a good baby because he hardly ever cried and slept a lot. In fact I remember taking him to a funeral that lasted 3 hrs. long and we hardly heard a noise from him! At the age of 4 months, we noticed that something was not right. Matthew would not hold his head up and was not able to grasp anything with his hands and was not making sounds. He was also very “floppy.” The pediatrician recommended that Early Child Hood Intervention (ECI) evaluate him and determine if he was delayed. Matthew began receiving services through ECI at the age of 7 months. He also suffered with many ear infection and finally at the age of 7 months had tubes put in his ears. Matthew did not sit up until he was almost 12 months old and even then we had to put pillows around him to protect him in case he toppled over. He began to crawl at the age of 18 months (not very much because he hated being put on his tummy) and finally started walking when he was around 3-4 yrs. old. Matthew was released from the ECI program and was put in a PPCD (Public School for Children with Disabilities) class. When Matthew turned 5 he was transferred to another public school to attend a Functional Life Skills (FLS) class at an elementary school here in Weatherford. To this date Matthew still attends an FLS class at the high school and is considered a “Junior.” Matthew has had various testing done to try and determine if he fits any of the “typical syndromes” but the tests have come back normal. So up until last month when we got the PTHS syndrome diagnosis, he was a puzzle and was put under the Autism umbrella. Matthew currently wears orthotics in both shoes and back when he was much younger wore AFO’s (braces). He has also worn glasses since he was around 3-4 yrs. old. Every milestone that Matthew has achieved has come at a snails pace but nonetheless progress! From not being able to feed himself to now able to eat spaghetti! He has a great appetite and thus loves to eat! Earlier on we focused more on gross motor skills first and up until recently I felt guilty for not working more on his speech. Now with this diagnosis I don’t feel as bad considering that PTHS kids either have no speech or very limited speech. For Christmas we bought him an iPad so that we can hopefully find the right app that suits him : ) Basically, Matthew is generally a very happy teenager that is super passive and has no behavioral issues. Back when he was younger he did a lot of flapping and made lots of humming noises. Over the years we have noticed the flapping has diminished quite a bit and not as much humming. He can get himself dressed with assistance but can’t button or snap any of his pants or shirts. He loves to have books read to him and with a verbal command will go to his book shelf and pick out a book (almost always a Dr. Seuss book) – especially if read by dad (Larry). He loves to watch Sesame Street, Sponge Bob, and Blues Clues. His favorite movie is The Incredibles! Matthew also enjoys music – especially Sesame Street music. He can unbuckle his seat belt in the car, and can open his own car door to get in and out. This was one of the many things we have worked on that he finally was able to achieve. Matthew can also bring his cup from the table to the kitchen counter with a verbal command and we are still working on carrying his plate. There are so many things we would like for him to do on his own but experience has taught us that we need to be patient with Matthew. He learns better with prompting, consistency, repetition and again patience! I could go on and on about Matthew but I think I’ve made this a little longer than it should be : )

Matthew has two brothers – Michael (22 yrs old) and Andrew (15 years old). Michael graduated from Arizona State in December of 2012 with an English degree and is an Actor as well. He teaches theatre arts at a middle school while pursuing an acting career. Andrew is a Freshman in high school and enjoys athletics – especially football, track and basketball. He is a student athlete with an interest in math and science. He absolutely loves genetics! My husband Larry is an Aeronautical Engineer for Lockheed Martin. As for me I left my job at Lockheed Martin back when Matthew was 10 months old so that I could stay home and take care of him. Once Matthew started school I got involved as a volunteer so that I could get to know all the teachers, etc. Eventually I started substitute teaching and last year after 8 years of doing that I decided that I needed to be home more! I enjoy it and life is a lot calmer : )

Rylie

Meet our precious gift, Rylie! We are Jack and Heather of Pennsylvania – two very proud parents of a growing girl who was diagnosed with Pitt Hopkins Syndrome when she was just 6 months old. Rylie was born on April 3, 2009 and was immediately moved into the Neonatal Intensive Care Unit (NICU) for ten long days due to poor oxygenation. We learned that when she was born she had a spontaneous pneumothorax in her right lung and a hole in her heart. Both resolved without any surgical intervention. During her NICU stay, she was treated with IV antibiotics for possible pneumonia. Finally off oxygen, she was able to come home. On the day she was discharged, she failed her newborn hearing screening. Follow up testing with an audiologist revealed that Rylie had severe bilateral sensorineural hearing loss and required hearing aids. At her 5 month visit, we expressed concerns to Rylie’s pediatrician about her development. She was not grabbing for toys or weight bearing on her legs. Her pediatrician agreed to genetic testing. After consultations with geneticists at the Children’s Hospital of Philadelphia, it was confirmed that Rylie had a rare chromosomal disorder known as Pitt Hopkins Syndrome. The geneticists had no useful information for us aside from worst case scenarios. Our hearts broke as we stared at our little girl sitting in the car seat across from us; the one for which we had so many hopes and dreams. In an effort to help Rylie reach her fullest potential, we immediately contacted our early intervention program and started her with every therapy including PT, OT, speech, hearing, and vision therapies. She also receives swim therapy and equestrian therapy. We also believed that having a sibling would be the best therapy for Rylie. She now has a little sister, Lily, with who she loves to play. I am looking forward to the day when they can run around together! Now 4, Rylie attends a preschool for kids with disabilities. She receives her daily therapies at school and is making nice progress. Rylie is beginning to use a walker to take her first steps. Having a child with special needs is a difficult journey; but it is our journey. It is not the one we had planned but it is still filled with hope and love. We are now able to dream new dreams for her. We are better parents because of our journey with Rylie; and most certainly better people.

Henry

Henry2Henry 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.

Lilly

Meet Lilly! I am Etta and I am from Indiana. My daughter Lilly was born November 12th, 2008 at a very healthy 8lbs 9oz., I thought she was completely normal with great apgar scores and she caught on feeding very quickly. I noticed little things as she got older that didn’t seem normal to me, but I just thought every baby was different and tried not to compare her to her older brother. At 6 months, when she wasn’t even rolling or attempting to sit up I knew something wasn’t right. We started therapy, almost immediately after we noticed problems and were able to see a Developmental Pediatrician at Riley Hospital of Indianapolis. Lilly had many tests done, but they all kept coming back negative. Finally the doctor at Developmental Pediatrics decided it was time for Lilly to see a Neurologist. We went to see the Neurologist and he did more tests and a skin biopsy. Skin biopsy was inconclusive so when Lilly was 2, we did a muscle biopsy. At the same time I asked that they test her for Pitt Hopkins Syndrome, as someone had suggested to me that she may have it. About 5 weeks later we got the phone call confirming her diagnosis. That day has forever changed my life. Lilly is a happy, sweet little girl. Full of spunk! She is bottom scooting on the floor now and is starting to get into the position to crawl. She doesn’t talk, but babbles all the time. We deal with a lot of constipation issues, so she is on a daily dose of Miralax to help. We have our ups and downs, but Lilly is such a joy to me and my family and I couldn’t imagine my life without her now. I know that things will get harder the older that she gets, but I am ready for the challenge and excited for each new day I get to enjoy with her!

Ian

Ian was born in April of 2005 and diagnosed with PTHS in 2008. His specific deletion is a deletion of the long arm of chromosome 18 involving band q21.2. Our family includes Ian, Kayden (little brother), Trevor (dad) and Jessica (mom). We live in Iowa, USA.

Ian is such a happy boy. He loves music and being around people. Along with PTHS, Ian has some other medical concerns. He has epilepsy where he experiences grand-mal seizures. He takes medication to control this. Ian also has hydrocephalus that was discovered when he was 12 months old. He had a VP shunt placed in 2006. Ian has been hospitalized multiple times for GI issues, pneumonia, and surgery for a hernia. He takes Miralax daily for GI issues. Ian does “play” with his breath from time to time, but at this point it is not an issue. Overall, he really is a pretty healthy boy.

Ian sat up when he was about 8-10 months old, crawled at 18 months, walked with assistance from about 3-6 years old and then started walking independently around 6 years old. Ian wears custom orthotic inserts in his shoes. He did wear AFO’s when he started standing and walking but now only wears inserts. Ian also uses a wheelchair for long distances but uses it less and less the older he gets.

Ian has really made great improvements with communicating. He does not verbally communicate at this point but is getting better with using “Ian language” to let us know his needs and wants. We have worked with the iPad app but not sure that he is quite ready for using it as a communication device. Ian absolutely loves music and food. He also enjoys playing outside, swinging, playing catch, and watching basketball. He loves spending time with his very-protective little brother. Ian is such a sweet boy that inspires and motivates so many people each day!

Vera

IMG_1253I 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.

Carson

CarsonSweet Carson was born in June of 2010 and was our first child. Leading up to her diagnosis at 6 months, Carson was continually missing her developmental milestones and further fell off the charts with her small head circumference. Worried about our newborn, we scheduled numerous doctor appointments to get an understanding of what was going on with Carson and her lack of development. After meeting with a Geneticist, she was diagnosed with Pitt Hopkins Syndrome. Carson’s deletion of the TCF4 gene is very small. However, we have quickly learned that just because it is a small deletion doesn’t mean the effects are any different. She has the characteristic wide brim nose also associated with PTHS. Carson has been fortunate to not have any major medical complications thus far. She does have constipation issues from time to time, but all of her other “systems” have been checked out and are all functioning normally at this time. In addition, she has not had any seizures or hyperventilating to date. Carson has a little sister named Colbie Grace, who just turned 1. Carson and Colbie have been fortunate to have an in home sitter their whole lives, which has helped them both out tremendously, as some children with PTHS have very sensitive immune systems. Their grandmother “MaVie” was Carson’s first babysitter and then Ms. Rachel took over until she went off to college, but still remains very involved with both Carson and Colbies lives. Currently, Ms. Kelsie comes over every morning to take care of both Carson and Colbie while we go to work. Carson loves to ride on all-terrain carts with her PaVie and especially LOVES to ride in her Daddy’s diesel truck. She also loves to watch the hundreds of seagulls swoop in to eat bread and crackers while sitting on the pier at the camp. Music is a very large part of her life and dancing with her grandma Ro makes her smile ear to ear! With all of the tireless help from ALL of her therapists, Carson is showing signs of developmental improvement with her hands, eyes and physical capabilities by pulling up on things and is comfortable standing with “lean” assistance for small periods of time. She has also recently learned how to kiss her parents and nanny on command. This was considered a TREMENDOUS milestone as it proves that she is understanding verbal communication. Carson is loved and adored by many and will continue to inspire us every day.
—Mike and Jenny from Louisiana

Phoebe

PhoebePhoebe 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 decidedly 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 Phoebes way and it is an absolute privileged to experience life singing and dancing with her every single day
Sarah, Andrew, Chloe and Phoebe, Northamptonshire, UK

Eli

SAMSUNGWe are a family of four. My husband Scott and I have been married for 16 years; we have a 14 year old son, Blake and 9 year old son, Eli (PTHS). We live in Baldwin City, KS. On June 27th, 2003, Elijah James was born. When Eli was 6 months old he wasn’t sitting up on his own. We visited two neurologists and their only conclusion was that Eli had hypotonia. They couldn’t tell us why or give any diagnosis. So, we proceeded to enroll Eli in the Infant/Toddler services which allowed us to work with a Physical Therapist, an Occupational Therapist, a Speech Therapist, a dietician and an Early Childhood development teacher. By 15 months Eli could sit up by himself. Eli’s hearing improved dramatically once tubes were inserted 18 months. By 2 Eli was weight bearing and could take steps with support. By 2 ½ he started crawling on all fours. He got his first pair of glasses when he was nearly 3 and had surgery in November 2006 to correct strabismus. By 3 1/2 Eli could crawl everywhere and walked with support. By 4 ½, Eli could take over 30 independent steps. After going gluten and casein free in Eli became more aware of his environment and wanted to be engaged with our family and his friends. In addition to traditional therapy, Eli also participated in Hippo Therapy, Interactive Metronome Therapy and Mom facilitated Aqua Therapy. In 2006, a developmental pediatrician suggested genetic testing. In November 2010, we decided to proceed with the genetic tests and the result: Pitt Hopkins Syndrome. The Microarray test wasn’t developed until 2007. So had we done the testing in 2006 we wouldn’t have received the diagnosis for Eli. Eli’s pictures represent PTHS on www.genereviews.org. Eli is transitioning to a new school this fall and will be in the 3rd grade. He now he practically runs, he is racing down the halls on his bike (with little assistance), and can now choose and communicate his desires quite effectively (though mostly non-verbal). Eli is a little boy who is changing the world by challenging those who take the time to know him to be more compassionate. “To have compassion isn’t the same thing as sympathy or pity. Pity will break your heart; compassion will open it.” – Didi Ananda Ruchira.

Victor

DSC_0380This is Victor, our precious son. Our names are Theresa and Paul. Victor was born in August of 2005. He has a deletion of Chromosome 18q 21.2 – 21.32 / Pitt-Hopkins Syndrome. We also have two wonderful older girls who are typically developing. Our family lives in North Carolina, USA.

Victor is a very happy child, who loves to meet and interact with everyone–a true extrovert. He has dysphagia, which is a swallowing disorder, and has to have his liquids thickened to a honey consistency. Victor has asthma and has been hospitalized many times due to viral respiratory infections, although as he has gotten older he has been sick much less often. He also has severe food allergies to nuts, dairy, eggs, and kiwi. Victor has moderate developmental disabilities. He sat at 11 months, stood alone at almost 2 years old, took his first steps at 2, and began walking independently at about 2 1/2 years old.  He has a little bit of an ataxic gait pattern, and needs help with curbs and stairs.

Victor is very curious, and investigates all things in his environment. His receptive language is much more advanced than his expressive language —he can understand much of what you say to him, but currently is not speaking yet. Pointing has helped Victor tremendously to let us know what he wants and to make choices, and he is beginning to use some signs. He also uses a communication app developed by his Daddy for the iPad, called Verbal Victor, and also uses Proloquo2Go.  We help him learn new things through prompting, repetition, and redirection. Victor loves listening to music, looking at books, playing with tops, watching favorite videos, using the iPad, playing outside, swinging, kicking a soccer ball, going down a slide, pedaling his tricycle and many other things–he enjoys everything that life has to offer! He is a joy and an inspiration to us all!

Victor has a blog, called Victor’s Journey,  from 3 years old to 8 years old.  Please visit to learn more about our son:  http://victorpauca.blogspot.com