Family Portrait Schoolchildren

“Expect nothing, be happy with what you get.“

Aneta and Kacper are the parents of Emilia (11 years) and Karol (5 years), both children have PCH2a. In their family portrait they talk about a long time of uncertainty at the beginning of their PCH-journey, how they manage life nowadays, what is special about their children and what gives them strength everyday.

Who is in your family?

We are a family of four – Aneta and Kacper (both born in 1990) & our kids Emilia (born in 2015) and Karol (born in 2021), both with PCH2a. Born, raised and currently living in Gdańsk, Poland.

How did your PCH journey start?

When Emilia was born, we did not know that she was affected by PCH. She was misdiagnosed until our second child was born. Almost every specialist told us that Emilia had Cerebral Palsy (CP), caused by complications during birth.

Those complications include shoulder dystocia, hypoxia and congenital pneumonia. The beginning of her journey was very difficult – she stayed in a hospital for over three weeks, trying to fight pneumonia. During that time, we observed the first alarming symptoms – her head was a bit too small, she had jerky movements and tremors… MRI confirmed that she has a small cerebellum and vermis, but we still did not know if it was a genetic condition.

For a long time, we managed to take care of her by ourselves, not knowing why she did not thrive. Her peers with CP were achieving developmental milestones, and she stayed behind, even though we did everything our therapists and doctors suggested. After some time, we suspected that it was not just CP, even though everyone said so. We just did not know what it was because every genetic testing came back clear (karyotype and array comparative genomic hybridization).

After a few years, we have accepted our fate 🙂 Emilia has undergone a Nissen fundoplication (note: surgical procedure to treat gastroesophageal reflux) when she was 4 years old, which resulted in very high improvement in quality of life (hers and ours as well). That was when we decided that we would like to try for another baby. We wanted to have some normality in our life. Well, be careful what you wish for.

During the second pregnancy we were forced to change our neurologist and, as soon as the new one saw Emilia, she told us ‘even if every test is clear, I’m sure that it is genetic’. And she was right. When Karol was still in utero, he already presented strange movements and tremors. After being born, he has shown a lot of similar symptoms, as Emilia – e.g. tremors and jerky movements. MRI confirmed that his cerebellum and pons are hypoplastic. Our neurologist expedited more detailed genetic testing (NGS: Next-Generation Sequencing) and it finally gave us the answer to the questions we have been asking for years now. That answer was PCH2a, connected with the TSEN54 mutation.

How did you feel during that time?

When Emilia was born, we acted on a task-based approach. We went to physical therapy, to doctors and searched for new therapeutic methods. The hardest part was watching Emilia’s peers make progress, while she remained stuck in the same place. We were happy for our friends, but at the same time our hearts ached. For the first six months, we still held out hope for Emilia’s proper development in the future. We heard repeatedly that children with small cerebellum could walk and develop normally. Outside of physical therapy, we tried to live normally – we went to work and met friends. The hardest part was that everyone tried to comfort us, telling us it would be okay, that children with CP can develop. These attempts at comforting us quickly began to backfire and only caused us more pain, because we saw that nothing was changing.

We both experienced Karol’s birth differently. Kacper accepted his second child’s illness very quickly. Aneta felt as if she had suddenly received a diagnosis for both children. Our dreams of a modicum of normalcy were shattered because we already knew what lay ahead.

What gave us strength was our relationship. Together, it was much easier to overcome each obstacle.

What are the symptoms of your kids and have they changed over time?

Our children have not developed properly from the start. They have numerous involuntary movements (especially Emilia), dystonia, and significant difficulty executing intentional movements. Emilia and Karol do not sit independently, do not communicate verbally, and do not move independently, although they can roll sideways and onto their bellies. We tried to reduce Emilia’s involuntary movements through a pallidotomy (note: surgical procedure to reduce involuntary movements by destroying a small part of the brain called globus pallidus). This had minor results, though the most noticeable was a significant reduction in strabismus. Both of our children have mild strabismus. They also struggled with nystagmus, but Emilia’s disappeared after a few months. Karol’s nystagmus developed later (around the age of three) and persists to this day. The children have vision impairments and wear glasses. Karol also has optic nerve atrophy, but he understands what he sees.

Emilia initially had significant difficulty making eye contact, but over time, this has improved, and she is now very sociable. They are both joyful children, they laugh loudly, they talk in their own way, and they love interaction.

The biggest problem in their early lives was acid reflux – it caused extreme muscle tension throughout their bodies, opisthotonus, and severe discomfort. The reflux masked other ailments that we were unable to identify. Anti-reflux surgery significantly improved their quality of life and brought wonderful results. After the fundoplication, the children began to gain weight, sleep better and sit better in wheelchairs. Finally, their anti-epileptic medications were absorbed better and started working properly.

Speaking of epilepsy, both children suffer from it. The medications work quite well; Emilia’s seizures are virtually eliminated, while Karol’s occur mainly with infections (during a sudden spike in temperature). Feeding difficulties are also worth mentioning. The children have difficulty coordinating swallowing and breathing, causing them to choke while eating and swallow a lot of air. Both have G-tubes, but Karol eats blended meals orally. A G-tube greatly simplifies childcare, making feeding safer and easier (especially for others besides parents). Administering medication and hydration during infections has often saved us from hospitalization. We waited a long time before deciding to give Emilia a G-tube. We only decided after she lost drastically in weight after complications from COVID (PIMS = Pediatric Inflammatory Multisystem Syndrome). She was 7 years old at the time. After a few months, we asked for a G-tube for Karol as well, seeing how much it helped Emilia. We do not regret that decision.

What helps you to manage your daily life as a family?

A centrally managed calendar 🙂 Jokes aside, proper time management is key. We also have a natural division of responsibilities – only one of us is responsible for scheduling all appointments and therapies, as well as recreational outings. All other outings (without the children) are discussed together, so that we can arrange, for example, childcare assistance.

We also split who takes care of which child. Dad usually takes care of Emilia, and Mom takes care of Karol. This came naturally after Karol was born, as he had to spend more time with Mom as a newborn. Fortunately, Emilia is an understanding older sister and is doting on her daddy. This division does not mean we do not take care of the children in reverse. Each of us is capable of caring for both, knows their medication doses and all their habits. However, this division allows us to maintain a better routine and avoids arguments over whose turn it is to get up to see the baby.

Where do you get support?

Our greatest support comes from our doctors, whom we have known for many years and who allow us to contact them at virtually any time. This is primarily our neurologist and gastroenterologist.

The home hospice, which we joined after the aforementioned PIMS, is an indescribable source of support for us. The hospice provides us with a 24-hour on-call medical and nursing care, including weekends and holidays. They visit us regularly (nurse twice a week, doctor and psychologist twice a month, physiotherapist once a week). A psychologist is available for parents. Care is highly individualized, and the children’s needs are understood. The hospice also provides necessary medical equipment, such as an oxygen concentrator, a suction pump, and an inhaler. The hospice staff also includes physiotherapists who adapt therapy to the children’s current health status.

The educational center, which Emilia and Karol attend four times a week, also provides tremendous support. They spend several hours there, during which we know they are well cared for, fed, and happy. The center provides them with a variety of therapies, as well as entertainment and education tailored to their needs. Costume parties, themed events, animal therapy sessions, and much more are organized.

When speaking of support, we cannot help but mention our family, especially our parents. They help us in any way they can (financially or by helping with childcare when needed), though it is not an easy task.

Which tools would you not want to miss?

The most important equipment is wheelchairs that are well-adapted to children and a car adapted to transport them.

What are the greatest challenges you face in daily life?

When things are stable, we live relatively calmly. We know what to expect from our children. Problems begin when something beyond our control begins to happen to them – intestinal arrest, prolonged epileptic seizures during infections, fevers that are difficult to control, dystonic storms. We try to cope with every challenge, but it’s not always easy.

Health issues aside, planning outings and trips is also a major challenge. Despite living in a large city, there are no places where a disabled person (larger than a baby) can be changed. There are places we cannot enter due to architectural difficulties. Every time we want to buy a ticket for a concert or a performance, for example, we have to call the organizer and ask if the venue is accessible and if we can buy a ticket for a caregiver, who will have a seat next to the child in the wheelchair. This seems like a minor issue, but when we have to repeat the same scenario every time, it becomes exhausting.

What does a normal day in your family look like?

Our day revolves around eating. We plan every outing to coincide with the children’s feeding times.

We’ve developed a routine for each day of the week. We wake up around 6 a.m. and spend the entire morning (until 7:30 a.m.) preparing the children for their trip to the educational center. The children spend a few hours at the center – Karol 3 hours and Emilia 5. During this time, Dad works, and Mom takes care of household chores. After returning, the children rest. We read books to them, listen to music, and try to keep them occupied. We start the evening very quickly – around 4 p.m., we start their evening routine – the children love their baths! At 5:30 p.m., the children eat dinner and receive their evening medication, and that is the end of our day, and the evening begins, with the process of getting the children to sleep. Sometimes it is short, and both are asleep by around 8 p.m., but sometimes they cannot fall asleep or they wake up during the night.

Can you tell us about your favorite moments as a family?

Two situations come to mind: first, the mornings. Children wake up and immediately smile at us. Nothing gives us more energy to get through the day than those smiles.

The second one, successful trips. When we return home and everything is fine, the children are doing well, and nothing unexpected has happened, we feel a sense of accomplishment.

What has changed over time and how are you doing as a family today?

When Karol was born and we received a specific diagnosis, we chilled out. We stopped pushing for intensive physical therapy, which was intended to support motor development. We focused on improving quality of life, preventing deformities, and developing alternative communication. We stopped expecting milestones – we started living day by day and enjoying each good day without expectations.

Our priority is for our children to feel good. We make sure they have quiet evenings and get enough rest after classes. We try to provide them with entertainment tailored to their preferences – children’s concerts, illumination parks, a magic museum, theme parks (e.g., dinosaurs themed park), a zoo, etc. The situation we find ourselves in is a challenge for our relationship – there is no denying it. We do not have the opportunity to go on dates as a couple, so whenever possible, we organize them for all four of us. Even though this is not how we imagined our life together when we started dating, we are trying to make the most of it. Our situation is difficult, it is hard for us, we live in fear for each day. Understanding each other’s emotions gives us strength. We are not afraid to discuss difficult topics, but we also laugh at silly things and understand each other like no one else.

Is there anything you wish for your kids?

All we want is for our children to be happy and smiling and to live without pain.

What is great about your kids?

Their great sense of humor and infectious laughter. Karol bursts into laughter at the sight of food. They are both very polite and understand what is going on around them. They love kisses and cuddles, laugh in the shower, and have their favorite poems and songs that they respond to vividly. They never cry without a good reason. That is why we know, when they start to cry, something is wrong.

Emilia has the most beautiful eyes, and Karol has the most beautiful hair in the world.

What advice would you like to give to the parents of a child who has just been diagnosed with PCH2?

Expect nothing, be happy with what you get. Acceptance is hard, but it helps in everyday life. As time goes on, you will understand your child more and more, so it will become easier.

“Acceptance of the situation is key to an easier life.”