Help needed to improve little Milan's life

Thank you for looking at this page. My friends Pavel and Marketa have a son named Milan. They have now learned that his struggles are due to a rare genetic disorder, SMA. Trying to help their son takes all of their time and money. It is a rare disorder and there is limited coverage for his many needs. Any help that you can give is greatly appreciated. I have known Pavel and Marketa for many years and spent time with them when I lived in the Czech Republic and on subsequent visits. I have stayed in their home and was so happy that their dream of becoming parents came true! I met little Milan on my last visit and we all went out for Indian food in Brno, with him just new born in his stroller.

With the development of their son's disease they now have so much to deal with, and I hope things can become more manageable for them.  Milan's parents are trying to raise some funds in the Czech Republic as well and I have attached a translation of their write up from that page which explains the full situation and what they have been going through. There is so much needed to help little Milan so I thought it best to start this page from Canada as well to try to get additional help. Thank you for your time, and any donation will make a difference, big or small.

Thank you!!

Vicki Syrovy









Written by Pavel & Marketa:

 It's been a little over a year since our life was turned upside down and we started living a nightmare. We have now gathered the strength and courage to publish our story to the world. We are doing this to help our son Milan live with the least possible amount of barriers that a serious neuromuscular disease‚ Spinal Muscle Atrophy (SMA) puts in his way. Milánek has SMA, the worse version of type 2, which means that at two years of age he can not walk, climb or sit without support. He must exercise daily, undergo painful treatment and therapy to at least mitigate the effects of this insidious genetic disease.

Our story

Two years ago, on March 11th 2018 to be precise, our only child - our son Milánek was born. To our great joy, he was born very quickly and without problems. All was done within two hours of our arrival at the hospital. Milan was healthy and there were no signs to indicate what was going to happen . During the first six months of Milan's life there were some common, normal problems  such as jaundice, non-production of breast milk, head predilection (head to the side), gas, pain from teething .... Due to the predilection of his head we had to start practicing Vojta's method  of physiotherapy (so-called Vojtovka) in the third month. My wife Marketa exercised with Milan faithfully, 4 times a day, which was very difficult for everyone. Milan absolutely did not want to cooperate and the exercise itself was (and still is) very mentally and physically demanding. It takes several weeks to learn to do it properly and it tests the limits of a person´s  mental strength . During the day, one can do nothing but plan all necessary daily activities such as preparing food, cleaning and taking care of baby around the exercises. In addition to this, if your child can never get proper sleep as a result of his condition, it becomes very exhausting. But the worst was yet to come.

Milan was about 6 months old and he was able to turn and roll nicely, he was also able to lift himself on his arms. He was still lagging behind  other children but we believed he would catch up and we were reassured from all sides that it was normal for boys to be "a little behind". Milan did not crawl and could not sit up. He had his second dose of hexavaccine vaccination at that time and we vividly remember that he stopped kicking right after that. We attributed  it to vaccination response and thought it would sort itself out over  time. But it didn´t. We regularly took Milan to hospital for physiotherapy and they advised us to keep exercising. The neurologist did not find anything abnormal and the pediatrician also did not detect any issues. Christmas was approaching and we started to become very nervous because we were noticing  how Milan was getting weaker, how he turned his head by tilting it and that he wasn´t able to hold it up well. What´s more, he stopped lifting himself on his arms and when we carried him, he felt limp, slouching to one side or the other. He was getting worse. Slowly. Inconspicuously. Little by little. A detailed blood test followed, which revealed no problem. We were instructed to add a new exercise which we started doing between Vojtovka's exercises. After Christmas holidays, we wanted to add the Bobath method so we contacted a specialist, MUDr. Kiedroňová, who told us: "Leave him here for two weeks and he will be crawling", which made us very happy and motivated. So we started practicing Bobath and paid for a week-long intensive rehabilitation stay in Prague in February 2019. There was morning and afternoon swimming with an instructor, plus exercises before each swim. You could compare it to a two-phase training of professional athletes. In addition, we still practiced Vojtovka with Milan in the room. We put everything into it and hoped for a big turnaround. We went to Prague with great expectations  and determination  but after a week of intensive work, we definitely realized that something was seriously  wrong. We were especially alarmed by the cruel comparison of our, then 11-month-old son, with other children in the group. Many of them who were perhaps not even six months old  managed to move much better. Things that Milan was able to do, they did differently or better. For those of us who only have one child, this was a really harsh  finding and it brought us crushing to the ground.



After returning from Prague, we tried to swallow the bitter pill and accept the assessments the doctors and other experts had given us so far (which we have not been able to do as yet). We immediately found a different neurologist. Then we went for a few more examinations and after many weeks of nerve-racking waiting, they confirmed the harsh truth: our son has a disease we had never heard of before - Spinal Muscular Atrophy of the second type. It actually isn´t a disease, it is a genetic disorder. If a doctor happens to read this, he or she  will most likely want to correct my explanation but I will try to say it simply ... the so-called motorneurons which control the contractions of muscles in a person´s  body
don´t work well and they gradually degrade and die out. If you don't use your muscles, they weaken. This is exactly what happens with this disorder. The weakening happens at a different rate of speed for each individual  but the general rule is that the sooner the disease manifests itself, the worse the outcome will be . There are four levels of severity, Milan has the worse version of category two. Category one is the most serious type. The worse version of category two means that, at the age of one year, Milan had difficulty keeping his head up and he was able to roll from his back to his stomach and back. He could not sit up or sit without support, he could not crawl, he could not draw his hands to the crossbar, he could not turn over at night when he was covered by a blanket. Such children have very weak muscles in their whole body, their condition gradually deteriorates to the point at which they just lie in bed, can not talk, need to be connected to a ventilator to assist them with breathing and they are on artificial nutrition at all times. Any common cold can develop  into pneumonia because they have weak respiratory muscles and cannot properly "cleanse" their lungs by coughing. They also have sparse bones. Possible fractures are a huge problem. They all have scoliosis and other deformities of the spine, which worsen over time, so they also undergo operations in which they insert rods into their bodies to straighten them .... nothing works well. As a parent of a child with SMA, you must make a huge effort to slow down the disease and at the same time live in permanent fear of unexpected complications. Now, after a year of knowing this diagnosis, my wife  still cannot come to terms with her son's complicated future and suffers from major depression. I had to start working from home. One person cannot take care of a child disabled in this way without additional help.


The treatment

Speaking of  treatment, a complete recovery is no longer possible (not even by gene therapy) because the disorder has already manifested itself and has irreversibly damaged motorneurons. We can only try to make the best of Milan´s current state and save the remaining motorneurons. Exercises and various aids for posture and mobility are a matter of course. You feel  as if you had an unpaid mortgage hanging over your head. Even if you sold everything you have, it would never be enough for all the mechanical and electric wheelchairs, apartment modifications, paying for a caregiver, buying a car to transport a wheelchair user, medicines not covered by the insurance company, etc. The vision of going to work, earning barely enough to pay for aids and medication to slow down the disease and then, after work, going to hospital with your child for procedures and doing never-ending exercises is simply devastating! That is why we are asking for your help. As far as the medicine is concerned, a lot of changes have taken place in this field in the Czech Republic in the last three years and they are still ongoing. No real drug for SMA was available in the Czech Republic three years ago. Now it looks like there are three ... Spinraza, Zolgensma, Risdiplam. The first one is delivered by lumbar puncture, the second one by blood transfusion, the third one orally. Each of them has different application criteria and also different level of coverage by insurance companies. Spinraza is the first drug for SMA and at the beginning it was covered by health insurance and administered only to children. It has now  been approved for adult patients in the Czech Republic as well, since the beginning of this year. Unfortunately, it doesn´t help adults  as much as it helps small children. Based on available information (but not yet statistically confirmed), the most effective treatment is with Zolgensma, the so-called gene therapy. In Europe, the drug agency Zolgensma has been approved since May 2020 for patients up to 21 kg with type 1 or type 2 SMA, which has 3 SMN2 genes. This treatment  will probably be given only once in a lifetime, or once every ten years. It  has not yet been determined. All three drugs are among the most expensive in the world, eg.Zolgensma costs approx. $ 2,100,000 (CZK 51 million), Spinraza "only" CZK 2 million every 4 months. Our Milan undergoes the painful Spinraza treatment  once every 4 months but he meets the criteria of the European Medicines Agency for the administration of Zolgensma and we now hope that it will be made available to him and reimbursed by the health insurance company. The official position of the Czech Republic has not been reached yet. We continue to exercise with Milan 3 times a day, we go to physio therapy, we plan therapeutic stays and we hope for the best possible results of current treatment.

If you are willing to contribute to Milan for further medical expenses or aids, please send any amount to the above-mentioned transparent account. We currently need:

 
Mechanical wheelchair - 50 000. CZK - Approximately $3000 CAD

 

Special chair -25 000 CZK- $1500 CAD

 

Standing device so-called Stander - 70 000. CZK- Approximately $4200 CAD

 

Electric wheelchair -250 000. CZK- $15 000 CAD

 

Special treatment once a year in Klimkovice, the so-called suit for astronauts
- 50 000. CZK - $3000 CAD

 

Babysitter so Daddy can go to work - we don't know the price yet.

We have absolutely no idea how we are going to handle all this at this point...

 Thank you!  Big thanks also go to all those who have already helped or are helping us, they are :

 
Our family, we must  mention our aunt who  cooks a great meal  for us once a week :)

 
The non-profit organization Život Dětem https://www.zivotdetem.cz/ for a contribution to the exercise and for creating a transparent account.

 
Friends who offered us their help, although we have not  taken advantage of all their offers yet.

 
Kolping's family Smečno for expert consultations, namely Mrs. Lungová and Kopejsková.

 
Children's University Hospital in Brno for administering the drug.

 
Good Angel Foundation for their  contributions toward existing aids.

 
Smaks - patient organization sma for professional consultation.

 
Jan B., whom we did not know until recently and who offered to take Milan for walks and thus give us a few important hours to breathe.

 
Parents of children with SMA who were fighting for the drug Spinraza and other parents who are currently fighting for the next drugs.

 
VZP insurance company for the payment of Spinraz and for perhaps the future Zolgensm.

 
Dad's employer, who allowed him to work from home and provided other benefits.

 

PS: We hereby call on the government to introduce measures that will reduce or forever prevent the emergence of this terrible disorder, there are ways to do this.

 

 
With kind regards

ŘEZÁČ FAMILY