Martyna Nowak – The Story of My Son
This week, Martyna Nowak tells the story about her son Leon who has SCAX1. He has had a lot to overcome, but is nonetheless a happy young boy who loves to cycle.
My name is Martyna Nowak, I am a mother of a four-year-old boy who suffers from Spinocerebellar Ataxia X-linked type 1 or SCAX1.
We live in Poland. Leon was born at 36 weeks gestation, in severe asphyxia (he was not breathing), with second-degree hemorrhages. He received 3/6/8/8 points on the Apgar scale. Since his birth, we were under constant supervision of many specialists.
When he was 3 months old we started physical rehabilitation because he had decreased muscle tone and body asymmetry. He was weak and could not lift his head. Thanks to constant, intensive rehabilitation he started to quadruple and sit up at the age of 11 months (i.e. late). He started walking at the age of 15 months, but he could not cope on his own with the decreased muscle tone, so we went back to rehabilitation. Then it turned out that he had pelvic anteversion, so-called lordosis. When he was 19 months old, he started sensory integration classes and at the age of 2 years, he started speech therapy. His speech was delayed, and words were nasal.
At the age of 2.5, Leon started a therapeutic preschool, where he also has speech therapy, sensory integration, dog therapy, and general development. Additionally, we go for hippotherapy. In the meantime, we have found out that our son has rectus abdominis muscle dystrophy (white line relaxation), so we had to start additional rehabilitation. Thanks to the logopedic therapy our son started to say words and build sentences. His speech was unclear but although it is not perfect yet, it is much better and most of the words are understandable for the surroundings.
Leon has had intensive multidisciplinary rehabilitation thanks to which his development has improved a lot. We also go to rehabilitation camps. Unfortunately, he still has problems with balance, deep sensory disorders, muscle hypotonia, and speech disorders (these are the main problems). The doctors said it was a result of a heavy birth. When he was 2.5 years old, we had an MRI scan in which there was no hypoxia, only a pineal cyst measuring 11 mm. I had a feeling to dig deeper and look for the real cause of my son’s developmental problems. We went to a geneticist who recommended a WES genetic test. Thanks to this examination we learned Leon’s diagnosis.
Now we know why he has muscular hypotonia, balance problems and, unclear nasal speech. We know that thanks to rehabilitation we achieved a huge success! But we also know that we must do it all the time. Leon, thanks to his great strength to fight, learned to ride a bicycle with two wheels when he was only 3 years and 3 months old!
Of course, on a dirt road or uphill, he had a big problem, but on a straight asphalt road, he is so fast that it is hard to catch up with him. He is not able to walk and ride the bike beside him. He must focus only on walking on his own. From the genetic test, we found out that Leon also has cerebellar ataxia type 45 and the doctor described that the symptoms occur after the age of 40. We are afraid to think about the future.
We are happy with what we have accomplished because it is a miracle for everyone. Our son also suffers from hypothyroidism and Hashimoto’s; he has nodules which we are still monitoring with ultrasound and biopsy. Unfortunately, many of the tests are done under anesthesia. Despite these many health problems, he is a very happy child and this is the cure for all evil and motivates us to continue fighting hard.
Thank you Martyna Nowak for sharing the experience of you and your son.
Please consider sharing your story – whether you have Ataxia, are a caregiver, friend, or relative. You may fill out the form below to get started.
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The Patch Pulse SynthEdit module emits an impulse whenever there is a patch (program) change. Useful for keeping multiple sequencers synchronized.
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