"We are sad for the life we ​​think we will live with her"

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Evelyn Ohlsson has just passed her first birthday, but every minute of her life is a milestone because she is battling a rare disease that makes her parents look for miracles.

Laura and Craig, her mom and dad, once said that they would never give up hope that their little daughter would one day be strong and healthy again. If they lose hope, they will not be able to move forward at all.

Evelyn, a baby from Royston, Hertfordshire, suffers from spinal muscular atrophy (SMA). This is a genetic disease that causes paralysis, muscle weakness, and gradual loss of athletic ability.

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Evelyn suffers from the most severe form of the disease, the first type, which is usually diagnosed before the baby is 6 months old.

The life expectancy of Evelyn's baby is only two years. But treatment research is progressing rapidly, and Laura and Craig are working hard to raise awareness. The treatment may not have time to save Evelyn's life, but it can save other people's children.

"We owe Evelyn and other babies to make sure people know what it is," Laura said. "We just want everyone to know that she is really good. She is so brave

"She has received a lot of needles, tests, and various checks, but she always has a smile on her face. Anyway, she is really the happiest baby."

"For everything she has experienced, she is a superhero," Craig said, explaining that her family called her the "Pink Power Ranger."

When Evelyn was born, she was very healthy. "She developed a sense of humor early on," Laura said. "She will do little things, like pulling her face to make you laugh."

A family member pointed out to Laura that Evelyn’s muscles seemed a bit strange, and mentioned a symptom called "hypotonia" that Laura had never heard of. She fell into the rabbit hole on the Internet and stumbled to find a terrible disease.

Laura said: "I watched a video when I was digging too much, and I immediately thought:'Oh my God, that's what Evelyn did. This is what she did. I have no idea what SMA is. I never Haven't heard of it."

Studying it, Laura noticed the symptoms she saw on Evelyn.

She explained that healthy babies should kick from the knees, while babies with SMA can only twist their feet. They noticed this in Evelyn, but they thought it was a sweet quirk.

"We used to say that her feet are happy," Laura said. "You know, it seems to be her little thing."

Another hallmark of SMA is the bell-shaped chest, which narrows at the top of the chest because the muscle strength is not in the ribs. At first, Evelyn was not obvious, and when it started, Laura thought she could imagine it.

Evelyn's tongue also trembled slightly, but Laura tried to convince herself that everything was fine.

It was when she was pregnant with another child, a child of a family friend who was born three months later than Evelyn, Laura's heart sank. This was the first baby she held after Evelyn was born, and she immediately felt the strength of the boy's muscles. Since then, Laura knew that something was seriously wrong, and life began to develop rapidly.

Laura took Evelyn to the emergency room, where the staff did the usual check-ups and let her stay overnight to monitor her. Later, a group of medical staff, including a neurologist, found Laura.

"I explained to her what happened," Laura said. "I told her the videos I watched and the things I read, and I basically said to her:'I just need you to tell me that it's not like that, and then I will deal with anything else.'"

But when the doctor started examining Evelyn, she began to point out the symptoms of SMA. Laura became very upset because they knew what these symptoms meant.

Due to the coronavirus, she and Evelyn were alone in the hospital, and Craig sat outside and waited. As Laura became more distressed, the doctor asked her to call Craig into the hospital.

In the UK, a baby is born with spinal muscular atrophy every five days. The nation calls on the government to fund newborn disease screening, just like a heel blood test.

In response to petitions with more than 11,000 signatures, the government stated: “The pros and cons of screening for neonatal spinal muscular atrophy must be carefully evaluated. The UK National Screening Council will review the evidence in 2022.”

"This will not affect Evelyn's case," Laura said, "but with existing treatment methods, 100% know that if you try to start treatment early, the chance and prognosis of that child will improve so much. "

Approximately one in 40 to 60 people is a carrier of the SMA gene, which is equivalent to 1.5 million people in the UK.

Laura added: "I was shocked that you got this incredible treatment. It's really an amazing thing, but we are waiting for people who don't even know it will show up before the children receive treatment. Symptoms. It definitely needs to change."

Two weeks later, the medical team could confirm the diagnosis through genetic blood testing, but the neurologist immediately stated that she had noticed all signs of Evelyn's SMA.

"It's really hard," Laura said. "I know what it means. I know the prognosis, and for Craig, I don't want him to worry about it. It's really difficult because they have to explain to Craig. It's overwhelming."

Craig added: "I just remembered receiving a text message that day saying that the doctor wanted to talk to us. I remember my legs were shaking when I walked in because I knew it was abnormal. They told us that I Just remember that Laura cried and hugged her."

Evelyn’s parents said that they did not remember a conversation in which the doctor outlined the worst.

"I just remember they said it was serious," Laura said. "It's very, very serious. She is very weak. It's a gradual situation. If you know what gradual means, it will only continue to get worse."

But because she had studied this disease online, Laura knew that there was a groundbreaking gene therapy treatment, and she immediately asked if the baby Evelyn was acceptable. The conversation with the doctor turned to their choice and hoped for Evelyn's future.

Evelyn has difficulty moving now. She can't reposition herself, she can only move from ankle to toe, from elbow to finger. She is still weaning solid food on the breast pump. Laura and Craig can only pick her up in a certain way and support her with their hands.

"She continues to take steroids," Laura added. "Blood tests are performed at least once a week, if not twice a week. They actually have no place to get blood from her in the end. She is like a pillow. . It’s heartbreaking. It’s heartbreaking."

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She also coughs and suffocates because secretions accumulate in her lungs. Whenever she is in the car, someone must be behind her with a suction syringe.

Laura could not go back to work, and Craig had to call in sick to help. Now that Craig is back to work, Laura can barely leave the house because she needs a second person in the car in case Evelyn can't breathe.

Laura's eldest daughter Lexie is forced to be braver than most 12-year-olds because her little sister needs a lot of help.

Their home looks like a hospital, with a special bed, oxygen converter, SAT monitor, ventilator, alarm and lights. There are so many appointments to attend, it seems that every time they go to the hospital they will come back with new equipment.

Craig said it was difficult to say how Evelyn was affected, because she smiled and illuminated every room. But when asked how they coped as a family, Craig hesitated and said, "Honestly? Not surprising."

"When we first discovered it, there was a phrase that always impressed me," he added. "We are grieving for the life we ​​think we are going to have.

"We did consider, you know, all things, such as sending her to school, all these things, you will consider before she comes here. We now know that we can't do that much."

Laura added: "Everything about our lives is uncertain, whether it's the next 10 years or the next 10 days. Everything can be changed, and it has been done."

The family’s heartbreaking situation also means that they are facing financial difficulties.

They need specialized equipment such as beds, strollers and car chairs, but because Evelyn is too young, they are not yet eligible for disability support.

In the past they refused to solicit donations because they were unwilling to accept charity, but then Laura's maternity leave pay expired and they were really struggling.

"We really like our last £15 savings," she said. "I just talked to Craig and I said:'To be honest, I think they will only take out a bucket.'"

In fact, this support is amazing. A fundraising event set up on behalf of the family a few weeks ago has raised more than £11,000 because of the concerted efforts of family and friends.

Laura said: "Knowing that we will have a little money so that we can use it when things happen suddenly, and in order to be able to continue for a few days we may not be able to afford it, and leave some memories with her.

"Every day we pray that she will continue to take a step in the right direction. We don't care how small they are.

"If there are signs along the way that we have stopped progressing, moving toward her being stronger, moving toward her happiness and health, that is enough for us."

Laura said that uncertainty is the most difficult part of their lives. After talking with the therapist, she understood that she must learn to endure it.

She said: "You know, we will never meet someone who can say:'She will be fine now.' We have no idea what our future will look like, or what her future will look like.

"You make a plan, don't you? You try to solve the problem and organize yourself. You assume that you will be here for a long time, and other people will be here for a long time, and you don't really question it.

"I think what we really need to learn is to live more in the present and live in the present, because it is too much to look into the future. It is too much."

The family received two treatment plans. One requires a lumbar puncture every four months, in which a thin needle is inserted between the bones of the baby's lower spine. Laura compares gene therapy to transplantation, but its effect is different because it is a one-time treatment that prevents muscle atrophy.

It brought serious side effects, but they chose gene therapy for Evelyn's quality of life.

"We really want it," Laura said, "but my goodness, it's a roller coaster."

They were told that their hospital was not selected for treatment, but Evelyn's neurologist was "amazing" and referred her to three other specialized hospitals, and then just waited for the game.

"We really have to weigh the two options," Laura said, "between the treatment that can give her a better quality of life and what it means for her progress. Those are long weeks. Those weeks are really good. It's very long."

They had to self-isolate to ensure that Evelyn could receive treatment. Finally, she received gene therapy in June of this year.

Laura said that now is waiting to see if she has improved, and this has improved. The couple described the "relief" of seeing Evelyn's improvement.

Laura and Craig said that it is important to raise awareness from a personal perspective to help their small circle of friends and family understand the difficulties faced by Baby Evelyn.

After Evelyn was diagnosed, they thought they would lose her soon. They talked about quickly completing their wedding ceremony for next year at the registration office.

"We thought we had no future at all," Laura said, but now they are more hopeful. "If you can't move on with the hope that she will continue to become stronger, we will not be able to cope.

"This is to look forward to and have this belief. To be honest, we have no choice but to trust her. She is too strong, she is so brave. Sometimes we have a particularly difficult week, or she is really depressed, a few days later , She moved her arm in a new way for the first time.

"It's as if she can feel it in us, she can tell us that we need something to give us a little positivity again-to give us that lifeline. It just surprised me. It's almost as if she knows it. She is too It's incredible."

You can learn more about Evelyn's story and donate to fundraising events here.

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