Siebe was borne after a normal pregnancy, 40 weeks. His start wasn’t so good. At just one day old, he began having convulsions, during the first 3 weeks. It was terrible.  Of course the doctors were concerned. They would tell us, “there has to be more… genetic, but we don’t know what it is”.

It went from bad to worse with Siebe.

At the age of 4 weeks old Siebe became very ill. They brought Siebe to the operation room where they found that his intestines were twisted and died off.  Today he’s missing half of his small intestine and has been diagnosed with Short Bowel Syndrome.

Feeding was a big problem the first 4 years. He was getting Nutritionals through the bloodstream. This posed many medical risks where he suffered blood poisoning numerous times.

These were difficult years with many concerns.

Siebe came home for the first time when he was 8 month old. We were overjoyed. Even though the next 4 years we would have to bring him 30 times to the operation room….. Mostly we spend our time in the hospital.  At 4 years old, Siebe would get a feeding tube. He now still overnight tube feeding and he eats a little bit. But this is pureed food.  So his intestine problem one of his biggest challenges.

His mental development is impaired. Developmentally he is roughly between 3-6 years old. He was late going to talk and walk. He talks at the age of an 8 year old. But he is an avid reader.

We are very proud of our son and the gains he continues to make. Who would have thought all those years ago that he would now ride a bike?


I want to describe some characteristics of Siebe:  Siebe loves jokes. He scares very quickly and is quickly frustrated and impatient. His photographic memory is very high. He likes to cuddle and loves his friends/family. Siebe goes to special education which has helped him make a lot of advances.

About three years ago, when Siebe was 9 1/2 years old, they found a Belgian boy with the diagnosis PACS1. Our doctor realized this is what Siebe has as well. It was a relief to finally know.



We were relieved to know we are not alone. I began a Facebook page for other parents whose children have PACS1 to begin a community of sharing. It has been wonderful.




Oscar was born by emergency cesarean a week early due to unrelated medical reasons. To most he was a normal baby, but for me as his mum I knew in my heart there was something not quite right. His eye seemed bulgy but I felt guilty telling anyone other than my husband my concerns as it seemed ‘cosmetic’ -to me he was still perfect!
As he grew he wasn’t meeting his milestones. He wouldn’t focus on people or objects.  He was extremely clingy and would scream until he choked if I put him down or left him alone. He refused to sleep at night and if he did it would only be for an hour or two at most before waking up screaming again.
I repeatedly voiced my concerns to the health visitors and doctors, but kept getting reassured ‘all children progress at different speeds’ which I already knew having two older children.
Around 7 months Oscar became constipated. He would scream in agony and his whole body would go unbelievably ridged but he still wasn’t able to go. Again visits and phone calls to various health professionals got us no where.
When Oscar was about 8 months old I took him to be weighed, whilst there the health visitors realized he wasn’t thriving as he should be.  He was under weight, his body was still floppy and they agreed he hadn’t met his milestone so agreed to come for a home assessment. The home visit backed up my fears from birth. He couldn’t focus his eyes, he could not lift his head, roll over or sit. He was then referred to a pediatrician and within 3 days we had a preliminary appointment.
He still had all of his primitive reflexes, had failed to gain weight, head lag, undescended testes, bilateral inguinal hernias and his head had stopped growing. Within two days we were referred to Oscar’s present pediatrician We were finally reassured that it wasn’t in our heads and something was wrong with our little boy.
The next few years were a whirlwind of hospital appointments, blood tests, x-rays, CT and MRI scans. Alongside Physiotherapy, Occupational therapy and Speech and language appointments. All that he was diagnosed with was Global developmental delay, hypermobility and a probable genetic disorder.
Oscar was still eating puree foods at 18 months, he couldn’t grasp the idea of eating and would choke on anything lumpy. He had only just learnt to roll onto his side and was still only sitting with support. He was diagnosed with an atrial septal defect and had impaired vision due to slow sight maturity. His developmental profile put him at 6 months old. Oscar was still extremely clingy to me, he still wouldn’t sleep at night for more than a couple of hours and he was very tactile defensive.
Oscar didn’t start walking until he was 2 years 9 months old.
We finally got a call from his geneticist September 2013. Without much hope we had previously agreed to enter his details into a Genetic testing study but they had actually found a result. Oscar was diagnosed with the PACS1 gene mutation.
Now Oscar is 5 years 8 months old. He is non verbal and attends a special needs school. He has behavioral problems and sensory processing disorder. We still attend numerous hospital appointments and he is still receiving various treatments but his gorgeous smile and cheeky attitude makes it all worth while.
We are now in contact with the other families of PACS1 children around the world which has made a huge difference, we can support each other and have learnt so much!


Kelly is 12 years old and from New Jersey.  Since we originally posted Kelly’s story (see below), she has so many wonderful things going on in her life. She has begun to use a talker and can now communicate with her teacher, parents and best of all her twin sister.  Then in 2017, Kelly became a model.


Photo credit: Karen Haberberg

Kelly was featured in ““An Ordinary Day: Kids with Rare Genetic Conditions” by New York Photographer, Karen Haberberg.  Published in October 2017, “An Ordinary Day” is a depiction of the journey families with rare syndromes live every day. Kelly’s photo was featured in a recent NY art show.  A portion of the proceeds from Karen Haberberg’s book will benefit genetic research.

Kelly’s story continues below….



This story is about my daughter, Kelly.

She is currently 10 years old and a twin! At five weeks old, Kelly was seen by many doctors as she has colobomas of her eyes, beautiful eyes that have pupils shaped like a cat’s eye. A known genetic issue but after many tests, all results said that she fine. She had reflux, but her eye issues were just cosmetic or so the doctors thought.

Kelly didn’t hit her milestones. Severe developmental delays, hypotonia, behaviors, digestive disorders, and the worst, completely non verbal. At six months old Kelly was in early intervention. By 18months, she was diagnosed with Global Developmental Delays, because nothing else fit. (Diagnosis #1.)

Right before attending school, Kelly was given a second diagnosis, Pervasive Developmental Disorder Not Otherwise Specified, PDD-NOS. (Diagnosis #2.)

After 3 1/2 years of specialists and genetic testing, Kelly’s doctor was thinking maybe, maybe not… I asked WHAT?… maybe Rett Syndrome. She wasn’t convinced and wanted to rule it out. Okay, I agreed, a simple blood test and we can move on. Except the test came back positive for mutation P225R. The doctor was shocked. (Diagnosis #3).

So Kelly’s life continued. We got therapies for her issues and she continued in school. We got lots of support from the Rett community, ultimately joining the Natural History Study on Rett. That would prove fortuitous in many ways. Kelly’s mutation was relatively rare and she was very atypical. They wanted to store a sample of her blood with the mutation for future testing. Okay, sure, a simple blood draw (sound familiar?). This time however, no one could find the mutation. The test was done three times, no, no mutation. All that could be said was the original test done at age 3 was done in error. We are back to no real diagnosis ( would you call that an UN-diagnosis ?)

And life goes on, Kelly got therapies for her issues and continued in school. We saw an eye specialist just to make sure nothing had changed. He happened to work with a genetic specialist researching eye abnormalities. They convinced us to get a whole exome study done on Kelly but the results would take months and the costs would possibly be in the tens of thousands of dollars. Would insurance cover it?

We went ahead with the testing and in June, 2014, Kelly’s tests revealed a confirmed mutation of the PACS1 gene. (Diagnosis #4). It is currently ultra rare, so new it doesn’t have an official syndrome or name yet. Through social networking and phone calls, currently as of this date, there are 18 people, mostly young children, with this confirmed mutation. Research goes on. I firmly believe as more and more people have access to affordable exome and genome testing, more people will be diagnosed with this mutation. More questions will be answered for us and for Kelly! More hope will be found.

Originally posted on Global Genes

You can learn more about Kelly’s journey at PACS1 Slow and Steady


Meet Kaejah Jaezelle. Kaejah is almost 4 years old and trying to claim favorite child status from her older brothers and sister.  She lives in Ohio and was diagnosed with PACS1 in 2016.


Similar to most children who have PACS1, Kaejah has struggled to learn how to feed herself and to walk or talk. But her parents know that one day she will do all this and more.  They eagerly await the day that will be watching her dance to the music videos Kaejah loves.


Kaejah’s journey to diagnosis was difficult and long. But her parents trusted their instincts and kept at doctors until Exome sequencing was finally performed. Learning that their precious girl would always have special needs and need assistance, Kaejah’s parents are grateful that they finally have the answers to why their daughter was not achieving her milestones. They were able to journey to the First USA PACS1 Family weekend and were so thankful to meet parents just like them.


Kaejah and her parents encourage you to never give up hope or asking for answers.




Julien has come as a mature child by Cesarean section on 21/07/2011. He had an Apgar of 10/10/10. During pregnancy, heart sounds were on at the lower limit, but the doctors found no other abnormalities.

Julien drank from the beginning very bad. His iron value was conspicuously low. Therefore, he had to stay in the children’s hospital longer than expected for several days.



After about 10 weeks he was admitted to the hospital for a blood transfusion because the iron value despite substitution was still very low. It has also had massive problems with the diet. Julien drank still very little and it was difficult for him to put on weight. He cried constantly and was unable to calm down by anything I tried to comfort him.

On examination for blood transfusion abnormal heart sounds were detected. Then we went to the clinic and an ultrasound diagnosed 3 heart failure (pers. Foramen ovale, pers. Ductus arteriosus with hemodynamic relevance and a muscular ventricular septal defect).  His Pediatric cardiologists told us we should wait until Julien is a year old and then the duct should be closed naturally.

But Julien’s condition deteriorated faster than expected, so he was operated in the ages of four months in November 2011. I have never been so scared.

Everyone thought that Julien would recover quickly after surgery and many would catch up, because it was already apparent that he developed different from his peers. Unfortunately, this was not the case! It was (and still is!) a problem to feed him. He could not suck properly, he lacked the force.

After the operation there was no change in his delayed development. In October 2012 Julien was finally transferred to our urgent request to a pediatric center. The doctors there had immediately suspected a genetic defect. We were first confronted by 15 months so that our child probably has a disability!

Then, genetic studies have been initiated and 9 months later PACS1 was diagnosed.


Julien has hypotonic both sides of a Simian crease, heart failure already mentioned, low-set ears, “finger pads”, fascial dysmorphism and is hypotonic. Moreover it with him on a slightly elevated CK value and a slight lack of immunoglobulins.

In July 2013 Julien human geneticists was introduced, who wanted to publish PACS1 (he was previously diagnosed with PACS1 child as 3rd world, from the girls diagnosed before him knew the human geneticists still nothing).

Now to the development of Julien:

Since about 12 weeks, he begins to run free! We are very pleased !! He speaks the words mom, grandma, yes, no, there, Anna, car, hello and “babbling” a bit. He understands some may point to demand many things.


He receives speech therapy and once a week physiotherapy. Since August 2013 he visited from 8 am to 2 pm a kindergarten as a “integration-child”.

His food behavior is very noticeable. He eats alone rarely a little. In kindergarten he sits at the table and looking the other while eating. We think he has a troubled feeling of hunger. We always have to distract him and then try to feed, so he eats anything.

Unfortunately, he drinks too little. We had multiple health problems therefore. Julien dehydrated very quickly and had to be supplied in Krankenaus with infusions several times.

Loud noises and height make him afraid. Also on balloons and elevators he is afraid. Cars he loved more than anything! He is extremely sensitive, cries, if another cry, etc. But mostly he is a very happy child.

As an aid we have orthoses, a nursing bed and a walker. Julien takes Movicol every day, which he receives in his porridge in the morning stirred into it. Unfortunately, he refuses to take this more often and get instant constipation that we have to fight.

We are very glad that we can have on Facebook Connect with other parents with PACS1. It’s incredibly important for us to see how these children can develop! We benefit greatly from the exchange with each other.





One can only imagine the joy and excitement that comes with the arrival of a new baby. We were no different from anyone else; we were extremely excited about the arrival of our little girl, Jasey. However, our joy and excitement was overshadowed by tears, questions, and lots of prayers very early in her life. When she was but one week old, Jasey stopped breathing and had to be hospitalized.

We spent a few weeks in the hospital as the doctors worked to find out why she continued to stop breathing. We would be released from the hospital only to return a few days later and stay for one month. Jasey stopped breathing nine times within the first two weeks of her life. She was diagnosed with seizures and was placed on a seizure medicine and a breathing monitor. Over the next few months, thankfully, we did not experience any more episodes of her not breathing.

As Jasey continued to get older, we noticed that she was not hitting milestones that other children her age were reaching. Therefore, she started physical therapy and then added speech and occupational therapies to help with the developmental delays. In addition to seizures and global developmental delays, she also had heart murmurs and was diagnosed with failure to thrive.

Her pediatrician referred us to the Department of Genetics of a local hospital for genetic testing. Jasey went through numerous genetic tests over the next few years of her life and we still didn’t have any answers. So, I started researching children hospitals that specialized in genetic research. I contacted Cincinnati Children’s hospital and we started seeing physicians in the following departments: genetics, pulmonary, neurology, developmental, and orthopedics.

They did a MRI on Jasey’s brain as well as Exome sequencing. The MRI indicated a small cerebellar vermis and the “Exome sequencing identified a deco mutation in PACS1 (R2032; c.607C>T). PACS1, located at chromosome 11q13.1, is a trans-Golgi-membrane traffic regulator that directs protein cargo and several viral envelope proteins” (Further Characterization of the Distinctive Phenotype Associated with PACS1 Mutations: T. Andrew Burrow, M.D.1, Kathleen Collins, M.S. 1, Jennifer Glass, M.S.1).

After years of searching for answers, Jasey has a diagnosis. When she was diagnosed, she was the third person in the world to be diagnosed with PACS1, 1st female in the world, and 1st person in the United States. Jasey continues to receive physical therapy, speech therapy, and occupational therapy. Thankfully, she is making great progress. She is truly a walking miracle. We are continuing to work with Cincinnati’s Genetic department in their quest to learn more about this mutation.




Ilona is a very friendly, affectionate, happy little girl who can make the grumpiest person smile with joy, just like her all her PACS1 cousins. She absolutely LOVES music – dancing, “drumming” to the beat, acting out nursery rhymes etc. She also enjoys going on the park swings and painting.


As with all of life’s lovely miracles, however, there were and still are challenges to overcome.

Ilona was born in October 2011 by planned C-section without any complications during pregnancy. Immediately after birth, the attending doctor had her tested for Down Syndrome due to her facial features and the creases on her palms. The results came back negative and she came home.

Soon after, we noticed that she was smaller than average and had trouble gaining weight as she was too weak to breastfeed. She also didn’t want to reach for toys or touch anything, and held her closed fists up to her shoulders to avoid any contact with “strange” surfaces.

By seven months, she hadn’t hit any of her milestones (such as rolling to her side or tummy) and barely held her head up with difficulty. Her head was much larger in proportion to her body, and we thought that might be why she was behind.


She was diagnosed with excess fluid in her head, but it didn’t need to be drained as there were no blockages. They decided it was inherited (her Dad has a large head too!) and wanted to test for pressure on her optic nerve. That’s when we found out she needed glasses.

The roller coaster ride started.

Ilona started going to a number of therapies was tested for a wide range of genetic and neurological conditions.

By her first birthday, she had a team of specialist doctors and therapists including:  neurologist, neurosurgeon, audiologist, clinical, geneticist, metabolic, geneticist, nutritionist, ophthalmologist, developmental pediatrician, adele-suit therapist, cardiologist, speech & feeding therapist, osteopath, hematologist, orthotician, occupational therapist, physio therapist, naturopath, and a cranio-sacral therapist.

Ilona was poked, prodded, and tested over and over. MRIs, Xrays, dozens of samples, Fragile X, FTT, neutraphillia, Angelman’s, Rett’s, William’s and several more. The results were all “normal, but not quite… and we don’t know why…”

As each test came back negative, we sighed with relief and thought she was just taking her own time. Then she had her first seizure at 15 months. Until then, a large number of conditions were not tested because seizures were a primary symptom. Even those came back “normal… but…”

We realized then that this was uncharted territory for the medical community and we had to take charge of her diagnosis and treatment. After switching out some specialists and replacing them with others, right after her second birthday, she finally got into a research program at Sick KidsHospital in Toronto for whole genome sequencing. The study looks at all 20-25,000 human genes, as opposed to the previous tests where they look at smaller sub set.

Eight months later we had an answer. She had a mutation in the PACS1 gene, the first case in Canada, and maybe the third known case in the world. Through Facebook we found other families of children with the PACS1 mutation, and our little community is about 20-strong as of March 2015.

In addition, she was recently labeled with “high concern” for “moderate to severe ASD” – which in our case is a good thing because she will be able to access even more services that will help her grow as independent as she can.

With continued therapies, Ilona is making progress every day, slowly but surely. She started crawling at two, and by three she could walk with the help of orthotics and a walker. She said her first words (UP! and KICK!) at 39 months and is becoming quite the chatterbox!


Meet Finley, a true joy to her family from Texas.


Finley is three years old and enjoys playing with her sisters and baby brother.  When not playing with her train set or stacking anything (toys, blocks, books) Finley can be rocking her pretty bows as she dances with her sisters.


Born at a whooping 9lbs 6oz after a normal pregnancy, Finley seemed no different than her older sisters.  It wasn’t until she was about 4-months old that her parents realized Finely was not making her milestones at the same pace as their other children. Everyone thought Finley was a “late bloomer”.  They  were concerned about this, but not extremely alarmed. At her 6 month checkup she had still not met many milestones from 4 months. But her mom didn’t need the doctor to tell them that Finley was delayed, trusting her instincts she knew something was off. That was the first time “testing” was thrown out during conversation. By the time Finley was 9 months, her parents had already had her tested and started doing OT.

Finley was reaching milestones, but at her own pace. She sat at 9 months, crawled at 14 months and walked at 19 months. Each of those milestones took lots of work.  For a while now her parents have felt that in most areas Finley is about a year or a year and a half delayed.  Finley has an Atrial Septal heart defect, but that is the only major health issue she has and for that they are so thankful!

Finley began ABA therapy in September of 2016 and it has been life changing for their family. They have so much hope in what she could be capable of in the future and so proud of how far she has come! Finley is saying new words every day and is now using mostly verbal communication to express her wants and needs.

Finley struggles with keeping her attention on tasks, especially when the family is having fun and trying new foods.  For some unknown reason, PACS1 children really do not enjoy having their hair brushed and Finley is no different. Although Finley has difficulty with coordination and needs physical therapy, she recently achieved the milestone of navigating stairs by herself.  Look out world, Miss Finley is on the move!

Finley’s parents received genetic testing when Finley was an infant. However those tests were negative. In 2016 Finley received Exome sequencing and her family finally had the answer to what makes Finley unique: the diagnosis of PACS1.  The results were a relief to her mom, Erin.

“The best thing is not feeling alone and finally putting an end to the agonizing search for answers.”


In the Spring of 2017 Finley and her parents attended the first ever PACS1 Family Gathering in the United States. They met 17 other families and were blessed to put real people in their lives who they can learn from and share the PACS1 life together.  They hope other families that struggle with an unknown diagnosis have access to Genetic screening.




Our son Cooper was born in April of 2012. Within a few days Cooper began having seizures. I was frantic wondering if my son would be okay. My husband became a pillar of strength. I could see the fear in his eyes, but he was the strong one. Cooper was diagnosed with the five day fits. I was amazed at the doctor. I just could not believe this was it. That they would say this was not important.

Since those first days Cooper has had multiple ear infections resulting in tubes in his ears (twice!), feeding programs, motility studies for digestion and a number o EEGS. We saw genetics and they offered Exome sequencing sure that Cooper had a genetic syndrome. However it was so costly we struggled with how to proceed. Luckily we received a call from Genetics that there would be no cost at all for the testing.

Six months later we got the results: PACS1. I didn’t know what it meant but ti was an answer.  We now had people we could lean on for advice.

Now two years old, Cooper will still not eat via his mouth. He is in physical and occupational therapies twice a week. He has begun walking with a gaited walker and recently was prescribed AFO’s (braces) for his ankles.  He was in a 35-day feeding program; however we wonder how effective it will be due to his developmental age versus his actual age.

Cooper, like most PACS1 children, suffers from GI issues. He is on a strict diet and takes supplements to through a GI Button in his stomach.

Cooper is a beautiful boy who loves to snuggle, leans in for kisses and points when you ask where someone is. Like most two year olds, he shakes his head “no” to everything, he does get angry and frustrated. But it is easy to turn his upset into happiness. Without his walker he scotts on his behind and he recently started climbing onto the couch.

We are so proud of his accomplishments. His smile continues to light up the room and his journey is just beginning.



At just three days old Bridget was admitted to the NICU at Boston Children’s Hospital for tachypnea (very rapid breathing). During her week stay Bridget would also be diagnosed with an immature EEG pattern and four holes in her heart (thankfully all but one have closed without medical intervention). Quite simply, the nurses saved my daughters life and gave me the best advice ever: Mother’s instinct trumps physician book knowledge every time.

In her six short years Bridget has acquired 15 medical specialists, 17 therapists and more diagnoses I never knew existed. Here are just a few:

  • Intellectual disability
  • Laryngomalacia
  • Gastric Reflux
  • “Trivial” Patent Ductus Arteriosius (heart murmur)
  • Hypotonia
  • Slight webbing of her neck, fingers and toes
  • Dysmorphic features
  • Short stature
  • Tethered Spinal Cord
  • Autism
  • Sensory Processing Disorder
  • Toe-walking
  • Communication delay
  • Vasomotor instability (Raynaud’s Syndrome)

What does all the diagnoses mean? That Bridget doesn’t add up. A child born with a thin brain and slow pattern should not walk or talk. Bridget in her quest to keep doctors jumping (and her parents) has been able to overcome any “no” in her path. It just takes her longer than most.

Bridget had multiple genetic testing. She ruled out for any known syndrome’s but showed a never seen before genetic abnormality.

In the summer of 2014 we traveled to Georgia to meet a doctor who promised she would. And she did. This fall we learned that Bridget has PACS1 syndrome. A rare, very rare, genetic syndrome that only 20-odd children around the world have. The PACS1 gene was found during EXOME sequencing. We are still learning about this syndrome, what symptoms fall into that category and what do not. For example, some of the children have autism and no other child has  Raynaud’s.

We have been overjoyed at the support we have received from other PACS1 parents. To know that we are not alone and to be able to talk to other parents for guidance.

To learn more about Bridget please follow her at (Un)Diagnosed but Okay

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