18-month-old Riley has a rare genetic disease called Severe Combined Immunodeficiency. It has left her with no immune system and no way to fight off even the most common of illnesses.
WORDS CHRISTEL GERALYN GOMES
Melissa LeBlanc had a blissful pregnancy. For her, it was a dream from the moment she learnt that she was expecting. “I loved being pregnant and experiencing all the movements of my unborn child inside my womb. Every single kick and hiccup, I loved it all and we were so excited to become parents and meet our baby. Overall, everything was smooth sailing,” she says.
Thank Heaven for Little Girls!
When it came to Riley’s delivery though, things were a little less smooth. Melissa had planned on an all-natural birthing experience, but it ended up being quite the opposite when Riley didn’t want to come out!
“We were three days past her due date when my doctor sent me for monitoring. A couple hours later, the doctor didn't love what he was seeing with Riley's heart rate and recommended delivery. In the hospital, a few different methods to induce labour naturally were attempted with not much luck. Eventually, they decided to break my water in the hope that things would start moving faster. They started Pitocin, I received an epidural, and half a day later, still no luck. Riley's delivery ultimately ended in a c-section.”
Despite not delivering the way she wanted,
Melissa says that none of it mattered because when Riley was put in her arms, she was perfect.
“She was healthy, pink, and just beautiful!”
The Routine Screening
Riley, like any other baby, had the routine screening tests done at birth.
“She was just nine days old when I got a missed call from her paediatrician, she left a voicemail saying there was something she needed to discuss. I remember just having this sinking feeling in my gut. It was a Tuesday, we had her two-week appointment scheduled for that Friday. I remember thinking how odd it was that the paediatrician herself called me, not the receptionist – this wasn't a call to confirm Friday's appointment. This was something else.”
Unfortunately, Melissa’s gut feeling was right. Her doctor did have bad news. “She explained to me that the screening came back flagged for something called SCID (pronounced skid). She explained that these tests are often false positives and further blood work is needed to confirm it. Another paediatrician in the same office mentioned that in his 40 years of practising medicine, he had never seen a child diagnosed with SCID. I was instructed to take her to the hospital for emergency blood work, keep her covered and away from people. Once the blood work is done, come immediately to her office so she can examine Riley for any signs of infection.”
It was soon confirmed that this was not a false positive and the family were referred to specialists in a Los Angeles Children’s Hospital.
Severe Combined Immunodeficiency – What is it?
Melissa explains that SCID is more commonly known as Bubble Baby Disease. “Because of the lack of an immune system, something as simple as the common cold would be life-threatening to a child with SCID. If this disease is not caught and treated early in life (at birth and before any infections develop), most children with SCID will not live to see their second birthday.”
She adds, “Once diagnosed, a child must live in an isolated environment. Many are able to stay in isolation at home with strict rules needing to be followed, some remain in isolation at the hospital until their treatment is complete and are stable enough to return home.”
Life does a 18O
Now, Melissa found herself not only needing to learn how to be a new mum, but also a new mum to a child whose life could slip away due to the smallest infection. The experience of it was awful. “For myself, and my family, it has affected us in many ways. As crucial as it is for Riley to stay isolated and free from illness, it is just as crucial for us to remain free from illness. If we had plans to see anyone, we will have to question them of recent activities. If anyone has had any symptoms of illness or has travelled by public transportation in the past three days, we would have to cancel plans. We have to be so careful about every little thing that we bring into our home. Germs are not welcome.”
The burden was both emotional and financial to Melissa and her husband. “My husband had to take many days off of work, make sure his co-workers were not sick, or else he wouldn't be able to do his job that day. I missed my little sister's bridal shower and bachelorette party due to my daughter being admitted to the hospital for observation after an illness in our home. I attended her wedding but remained in the background. I have seen my best friends maybe three times in the past year and a half.”
Stages of Grief
The pangs of having to stay away from family and friends cut deep and Melissa felt like she grieved the loss of nearly every expectation of what it would be like becoming a mum. “I don't use the word ‘grief’ lightly. It is a word that is surrounded by so much sadness and usually used when a life has been lost. When you're pregnant and expecting your first child, your world is full of dreams and expectations.”
“But this disease tears you apart, it takes you away from your loved ones, it forces you to live in fear and second guess just about everything you do. I can't kiss my baby, I wasn't able to breastfeed her for fear of transferring a deadly virus or bacteria to her. I can't just simply run to the store when I need something, I have to rely on everyone else for the simplest of needs. While my friends and their new babies were planning play dates, I was planning for a home care nurse to come over and teach me how to stick my baby with needles."
“I went through stages of being scared to cuddle with my baby because I was so scared bacteria from my skin could harm her. We have been isolated from the world for 18 months now. Family and friends only know our daughter through windows and video calls. Our hands are often raw from washing them so frequently and using so much hand sanitizer. You second guess nearly everything you do. Did I wash my hands well enough? Did I clean that toy well enough? Did I just touch my face, scratch my nose, wipe my tears and forget to wash my hands?”
Fortunately for Riley and family, SCID does have treatment options. According to Melissa, a bone marrow transplant was the first option, but they never found a perfectly matched donor. Instead, Riley has now gone through gene therapy, which is an option for the type of SCID that she
has. “In the most basic of explanations, gene therapy is a bone marrow transplant using the patient’s own bone marrow. You could say they are their own donor. Gene therapy is still a clinical trial but they have had extremely great success at curing children of SCID,” says Melissa.
She explains the process Riley went through; “Her bone marrow was harvested in the operating room under general anaesthesia. They took approximately 200ml (just under one cup) of bone marrow from her hip bones, through her lower back. Her bone marrow was immediately taken to the lab, the stem cells were removed from the bone marrow and genetically modified using a lentiviral vector that carries the good copy of the faulty gene into the stem cells. Her stem cells were then frozen and thoroughly tested. One month later, Riley received two doses of chemotherapy before receiving her corrected stem cells back.”
It has now been six months after Riley’s gene therapy transplant and Mum and Dad are starting to see her body start to create its very own immune system. “It worked! Now it's just a matter of time until she has enough of an immune system to experience life outside of isolation,” says Melissa.
The family is now looking forward to being able to finally spend time with family and lift their isolation. We wish them all the love and kinship in the world.