One Sunday in April 2005, Walentyna Paszek from Leszno read an advertisement in the matrimonial column of the Catholic weekly. “I am looking for a tiny, tiny woman of short stature who will give me warmth and love,” said Grzegorz. – Well, something touched me, something stopped me from these words. And I’m tiny, I’m tiny. So I wrote back and then …
And then there was the first meeting at the railway station in her hometown of Leszno. Moved, the young man gets out of the car with a rose in his hand. Valentina sees two handsome men with a flower, but she tells her something again, something in her heart tells her that the one in the advertisement is in a white shirt. That it was definitely him.
– When I saw Valentine for the first time, my legs gave out under me. She had long hair, that gleam in her eye, a smile. No, I didn’t realize she was disabled. I never think of her that way. I fell in love with it at first sight and I will love it until the end of the world – confesses the 36-year-old Grzegorz. Already on the first date, Valentina explained to Grzegorz what she had been suffering from since birth. No croaking, no self-pity. But the seriously sounding name: hypochondroplasia did not scare the young man away.
– Since I was a child, I loved everything that was small and fragile. It awakened my tenderness. Valentina could tell me about the disease without embarrassment because I saw her as an attractive woman, about whom I thought: she will be my wife … – admits Grzegorz.
— Hipochondroplazja is a genetically determined, congenital disease that leads to abnormal intra-chondral ossification, which causes bone development disorders and dwarfism – explains the specialist in internal medicine and endocrinologist. med. Marian Zieliński. – Affected people are characterized by dwarfism with a final height of 125 to 160 cm and a disproportionate body build. As for height, some sources report for hypochondroplasia the average height of an adult with hypochondroplasia for men – 145 to 165 cm, for women – 133,4 to 150,6 cm. The head is normal but appears large because the torso and limbs are shortened. Characteristic are lumbar hyperlordosis, square pelvis, short pubic bones, varus knees as in rickets, widening of epiphyses is typical. The disturbed growth process is most often noticed after the age of 5. Often there is brachydactyly, that is, shortening the length of the fingers. Affected people, apart from problems with the skeletal system (in hypochondroplasia, the bones are relatively strong, short and resistant to fractures) have no other defects and their intellectual development is usually normal. Early and lifelong hormone treatment is effective.
Over a year after the first meeting, the first child of Valentina and Grzegorz, the daughter of Kinga, is born. She is small like real silver, healthy. Valentina’s pregnancy goes smoothly. In July, four months before giving birth, she goes on a pilgrimage from Krobi in Greater Poland to Jasna Góra. The priest asks her to quit, but she is stubborn. – I’m well looked after. I will arrive happily and I will return happily – he says.
– A woman with hypochondroplasia may – as seen in the example of Mrs. Valentina – become pregnant, but she should be aware of the high risk of passing the disease on to her offspring (50%) – explains Dr. Marian Zieliński. – She should be under prenatal care, because the ultrasound examination shows the symptoms of this disease in 16-20. week of pregnancy, i.e. at the stage of fetal development. The image is so characteristic – though rare – that in itself it is enough for 100% recognition. In case of a complete defect, it can be the basis for termination. Termination of pregnancy, in a woman with hypochondroplasia – due to pelvic deformity – should be performed by caesarean section.
Text: Joanna Weyna Szczepańska
– I had a feeling that I would give birth to a healthy child, although I inherited the disease from my mother myself. My father was healthy – admits Walentyna. – But Dad couldn’t take care of the family. My mom raised me alone. She worked professionally. I saw how difficult it can be for her. Even so, she did not complain. She taught me to function well in the world of tall people. She instilled a sense of self-worth. Apart from a daughter, Walentyna has a two-year-old son, Błażej. The little one is also as healthy as a fish.
– The fact that the disease was not passed on to the children of Mrs. Valentina is a manifestation of a very happy combination of circumstances – she believes Dr. Marian Zieliński. – If her children are healthy, then they will not pass the disease on to their offspring. However, a child with hypochondroplasia may also appear in a relationship with healthy parents. This is a statistically very rare situation and it may be caused by a spontaneous genetic mutation identical or similar to changes in the gene encoding the fibroblast growth factor receptor.
– Valentina sometimes complains of headaches. He is afraid of osteoporosis. Already in her youth, she took injections to thicken the bones. But I am most afraid that it will not have an accident. After all, the world is not adapted to short people – says Grzesiek. However, the stubborn wife for nothing in the world did not want to settle for scarce furniture, other than standard chairs, armchairs and a sofa. And since she gave birth to healthy children, if only for their sake, she has no intention of indulging herself. She remembered her mother saying well: The world is unlikely to adjust to you. It’s up to you to adjust to it.
– Most patients with hypochondroplasia have serious back problems. Incorrectly positioned vertebrae compress the spinal cord, which leads to narrowing of the spinal canal and can result in a variety of neurological problems: from general limb weakness, to imbalance, to paralysis. Degenerative changes in the joints may appear early: especially in the knee and hip joints, she explains dr Marian Zielinski. – However, patients with hypochondroplasia do not require constant hospitalization. However, appropriate physical activity and rehabilitation are recommended.
It is also difficult for people of average age and taller to function normally in the environment; using public transport, toilets, various types of vending machines, shopping in a supermarket, etc. Not everyone with this disease manages to find a significant other, especially such a wonderful partner as Mrs. Walentyna is married to.
Children with hypochondroplasia are treated from birth in an endocrine clinic. Walentyna remembers my mother going with her to the doctor in Poznań. Thanks to the systematic intake of growth hormone, she managed to reach 123 cm. It is therefore half a meter shorter than her healthy husband.
Text: Joanna Weyna Szczepańska
– Problems appear from birth, Initially for parents, numerous and expensive treatments, trips to the Clinic for diagnostics and treatment. Growth hormone treatment is expensive, which is not reimbursed in this disease – he explains Dr. Marian Zieliński. – The treatment of bone disorders is also not easy. Orthopedic treatment (prolonged and painful) is often used, consisting in lengthening the limbs using the Ilizarov method. Treatment with recombinant growth hormone is also proposed. The results of such therapy in terms of improving the growth rate and final height, especially in the case of mild forms of hypochondroplasia, are promising. renal failure, since November 30 girls with Turner syndrome, and more recently children with Prader-Willi syndrome. In recent years, over 1998 children are treated annually in Poland. For some time now, they also include – not yet very numerous – children with diseases other than those mentioned above.
Now Valentina has to take care of herself. Control visits to the clinic, corrective gymnastics. Unfortunately, since he has his family, there is often not enough time for these small treatments. Valentina has to work professionally to contribute to the home budget.
– It is not easy financially – Grzegorz does not hide. He, a utility company employee, she works at McDonald’s. Since she went to work, they have a little over two thousand zlotys a month for their group of 4 people. But they still think that God blesses them abundantly. Healthy children, own flat from the city’s social resources. Mutual love and support every day. It gives a drive to life, the strength to overcome everyday problems, which are not lacking.
– The hardest part was when my mother fell ill. We took her to our place. I didn’t want her to die in the hospital. However, apart from her, I had two small children on my head, Grzesiek is still at work. If it weren’t for prayer and entrusting ourselves to God, I don’t know how we would have endured it all, the woman confesses. Valentina’s mother died in July 2011. She was 76 years old. She did not leave because of her disability. Because hypochondroplasia has nothing to do with life expectancy. You can live to old age with her.
– I hope to see my mother as well. I want to see the children grow up and start their own families. I want to be a grandmother someday. Now I can say about myself: I am glad that I am alive and I thank God for the life I have – smiles Valentina.
Text: Joanna Weyna Szczepańska