How important is an accurate diagnosis? We appreciate its value especially when it turns out that our child is seriously ill.
When we launched our first Genetic Disease Diagnosis and Treatment Program (https://analizagenomu.pl/), we weren’t expecting that such exceptional patients and their brave parents and guardians would contact us. People who, despite the enormity of suffering and uncertainty associated with the disease, remain positive. They fight with extraordinary determination every day so that their children have a chance for a better life.
Olek is one such patient. It was his mother, who, as she said, was not prepared for the avalanche of misfortunes that fell on her right after giving birth, who signed Olek up to our program. Not only did she cope with the challenges, but she decided to give something back to others, share her experiences with those who suddenly found themselves in a similar, difficult situation.
That is why today, despite the difficult experience and the enormity of responsibilities, runs the Supersprawni Foundation, which aims to help parents of children with disabilities and children themselves, in development and rehabilitation.
Olek’s mom agreed to tell us about her experiences in a touching interview. Read for yourself what an amazing path they have both taken: little Olek and his wonderful mother.
MNM: How did you feel before the Olek’s birth? Was the pregnancy going well?
Olek’s mom: Olek was a planned child. Even before pregnancy, I took care of myself, my diet and took, for example, vitamins recommended by the doctor to make up for any deficiencies. However, pregnancy was problematic from the beginning. Already on the first ultrasound (12-14 weeks of pregnancy) it turned out that I have too much amniotic fluid and the doctor suspected polyhydramnios. The most common causes of polyhydramnios are gestational diabetes or fetal genetic defects. It wasn’t diabetes. The doctors didn’t find any genetic defects either.
In the following weeks of pregnancy, the amount of fetal water increased and I had to have twice the amniocentesis to reduce their level. Olek was born after 32 weeks of pregnancy.
MNM: When Olek was born, what were the first actions undertaken and what tests were ordered?
Olek’s mom: After the delivery, Olek had to go to the ICU and later to the neonatal ward, where he spent 2 months. He couldn’t eat, he didn’t have a sucking reflex. Already after two days, Olek had a heart defect – valvular stenosis of the pulmonary artery. Then, a genetic defect was suspected – Noonan syndrome, which, however, could not be confirmed by further tests.
Initially, a series of birth defects was found, many, yet there was no specific diagnosis. The battle for my son’s life and health began. Tests, search for causes, rehabilitation, heart surgery, numerous gastroscopies when Olek did not gain weight. It led to PEG (Percutaneous endoscopic gastrostomy)* at the age of one. Olek gained weight to 8 kg, but more problems began to appear, because the PEG infected his body, which caused uncontrolled upper chains and chronic inflammation.
Two years after birth, cerebral fever and, after an MRI scan, an inactive hydrocephalus were found in Olka. As a result of endless infections, Olek came to the ICU twice and was kept in a pharmacological coma.
After consulting the geneticist, Olek was qualified to the Genetic Disease Diagnosis and Treatment Program. Whole-genomic sequencing revealed that Olek is suffering from Cardiofaciocutaneous (CFC) Syndrome, which is characterised b the symptoms of: heart defects, facial dysmorphic features, skin abnormalities, feeding difficulties, malnutrition and speech delay.
Early diagnosis was extremely important in Olek’s case, as it ensured the appropriate intervention to support his development. All therapies should be individually tailored to the needs and health problems of the patient.
MNM: If the diagnosis had been made earlier, would other therapeutic decisions have been made?
Olek’s mom: : I think that if we knew in advance what sort of syndrome we were dealing with, if the correct diagnosis had been made earlier, Olek would have been qualified for administration of the growth hormone much earlier. We would also have known about problems with gaining weight, which would save our son from the trauma connected to improper feeding
MNM: How important for you is the knowledge and awareness of Olek’s disease?
Olek’s mom: Now I’ve come to terms with Olek’s disease. I know I will look after him all my life. But the journey to where I am today took me 6 years. For 6 years I was looking for the reason and answer to the question: why? But most parents face such questions. I was relieved when I heard the diagnosis. This explains the lack of development and weight gain.
MNM: Do you have any best and worst memories of these six years: have you found bright and helpful people on your way?
Olek’s mom: At the beginning getting help was a challenge. I felt lost and worried about my son. After 3 years we came across an immunologist – a wonderful person who listed to what I had to say about Olek and took all the facts into account. Until today, we meet up in the ward once every 3 months.
MNM: What would you tell other mothers, parents who are at the beginning of such a difficult path?
Olek’s mom: The diagnosis and then rehabilitation are for sure the most important parts. I’d tell them you mustn’t do force your child into anything but give them time. Don’t can exaggerate go to rehabilitation 5 times a week, because the child must have time to rest. Every serious recommendation from one doctor, e.g. surgery, should be consulted with another doctor, unless it is an emergency, of course. Remember, we need to find a moment for ourselves in this exhausting battle for our children’s health, otherwise the children feel our fear and fatigue.
And I want to tell all fathers out there that your child’s illness is nobody’s fault – that we mothers also have a hard time experiencing each diagnosis and that support and mutual love is the most important thing. This is what our special children expect from us.
Olek’s mom, despite the difficult experience and enormous responsibilities, noticed the importance of proper care for children with disabilities and how much parents need knowledge and support in this area.
The foundation SUPERSPRAWNI was established in October 2016 out of the heart’s needs.
As she says: experiencing life with a child with disabilities, I know how much time and energy needs to be put in to get into rehabilitation classes supporting the development of infants. That is why my main assumption in establishing the Supersprawni Foundation was and still is to help parents of children with disabilities and the children themselves towards recover or simply to take the first step in their journey.
* PEG – Percutaneous endoscopic gastrostomy – a procedure involving the introduction into the stomach of a short tube, directly through the skin, through which the patient receives food.