Life as a Parent of a Child With Glycogen Storage Disease: A Rare Disease Story From the Czech Republic

When your child is constantly at risk of hypoglycemia and their health and life is threatened in the case of any major problem, you have no other choice but to be constantly on the phone and organise your life so that you can arrive within five to ten minutes. Your life will change so much that some of your friends and acquaintances will fade away. But you’ll make new friends among the parents of similarly ill children and together you’ll be able to provide your children with the miracle healthy people call ordinary life.

Karolinka was born in a hospital in Nové Město na Moravě, Czech Republic. After two days of repeated hypoglycemia, an ambulance took her in an incubator to the intensive care unit in Brno, where she remained for 10 days. Unfortunately, all of the samples were taken so as to fit the laboratory’s schedule, so they did not show the fact that Karolinka still had hypoglycemia, even on an empty stomach. When the lab results later got into the hands of specialists from the Institute of Inherited Metabolic Disorders, they considered them alarming. In Brno, however, suspicions of metabolic disorders were not confirmed and she was released with the explanation that it was a bad postpartum adaptation. By the time we got to the clinic, a month had passed and we lived under the assumption that our little girl was perfectly fine – it was just a fortunate coincidence that nothing happened in that time that could no longer be fixed.

When Karolínka was seven months old, the specialists at the KDDL metabolic unit in Prague finally made the diagnosis – glycogenosis type 1a, also known as glycogen storage disease type 1a or GSD 1a. This rare metabolic disease, which is an immediate threat to her life, started to manifest itself just hours after her birth, when she started to have problems with basic vital functions.

The liver of a healthy person supplies the body and especially the brain with blood sugar (glucose). The liver of a patient with GSD 1a, however, instead produces glycogen, which accumulates not only in the liver but also in the kidneys. Blood sugar levels drop dangerously. In childhood there is a risk of hypoglycemia on an empty stomach and during illnesses with fevers, and later in life growth may slow down and puberty may be delayed; “doll face” is a typical manifestation for these children, but Karolínka doesn’t have this. In adulthood, fat deposits in the skin, kidney disorders, high blood pressure, liver tumors, gout and depression may occur. At first glance, though, you won’t notice anything about children with glycogenosis type 1a – they talk, walk, laugh and misbehave. But their disease is essentially a time bomb that can be triggered by something as trivial as a case of stomach flu or getting stuck in an elevator.

Medicines do not exist for this disease at present; the goal of therapy is to prevent severe hypoglycemia and metabolic acidosis. Karolínka has a precisely-designed diet that consists of frequent feeding with a reduction in animal fats, lactose, saccharides and fructose, which is replaced by starches. Every two to three hours lactose-free milk with corn starch is added to her feeding tube, which maintains the level of sugar in her body. At night, she is connected to a pump which provides continuous nutrition. Karolínka has a PEG installed, which is short for percutaneous endoscopic gastrostomy – a tube which goes through the abdominal wall into the stomach. In other words, it’s a hole in her stomach which has a tube in it, into which a syringe filled with milk or a nutrition drink passes through a pump. The tube was installed at four months, and until then I had to insert a nasogastric tube every night, so the PEG was a great relief. Every night we change the bandage, which means that we treat the area around the hose with disinfectant and a special ointment, and attach sterile gauze. This doesn’t limit Karolínka in any way – of course you have to watch her to make sure the tube doesn’t open, spilling the milk out – for example when exercising. It’s only because of possible infections that she doesn’t go to the pool to swim with other classmates. Otherwise she takes it as part of who she is and doesn’t have a problem with it.

Every parent of a child with glycogenosis has a feeling of helplessness with the knowledge that they can’t influence how their child’s body will react to common childhood illnesses, how much hypoglycemia will trigger epilepsy in them, or whether in adulthood they will need a transplant, but we’re not completely defenseless. By constantly monitoring sugar levels and rapidly reacting if they drop, we can reduce possible tragic consequences. We’re simply on guard day and night and we must not miss an instance of hypoglycemia. A healthy person can go hungry and after a certain amount of time their body will cover the absence of important substances. In Karolínka’s case her life starts to be in danger within about 15 minutes if we miss a feeding for any reason; the level of sugar in her bloodstream starts to drop below a critical level. In such cases it’s necessary to get grape sugar into her body as quickly as possible, and if the body cannot process it she must be transported urgently to a hospital for an intravenous glucose drip directly into her veins.

Caring for a child with this disease is demanding, and unfortunately there are so many unnecessary complications which exhaust me. Through the years I’ve come across various situations that have the power to deprive you of a lot of energy. Situations range from meetings with authorities who don’t have your child’s disease anywhere in their files, or a doctor from the paramedics who hands your daughter to the hospital and says he doesn’t believe what the mother is saying. I remember one absurd situation when Karolínka had to have her stomach tube replaced while under anesthesia and I was described as being hysterical because I demanded that she have a glucose drip throughout the operation, as has been described in the documentation. The fact that the doctor in question came three times to see how Kája was doing and assured me that the error was that she was being seen by another doctor and that they would definitely find out in time – all that is absolutely irrelevant. It wouldn’t be possible to prevent brain damage or other health consequences.

And that’s what’s so exhausting for us as parents; a regular doctor encounters a rare disease in school if they’re lucky. Throughout their entire career a doctor can count the number of patients with this type of disease on one hand, so as a parent you essentially know much more about the diagnosis than they do. The smart ones accept this. The stupid ones don’t. Another category are the doctors who see our Karolínka, Ondra, and Adélka as interesting objects for research. We’re lucky that there’s a lot more of the nice and accommodating ones.

Karolinka loves animals. She wants to become a veterinarian. She doesn’t have any dolls, strollers or kitchens, only animal figurines and stuffed animals. She has eight foxes – named Monday, Tuesday, Wednesday, Thursday, Friday, Saturday, Sunday and Sunday Night. She got the foxes in the hospital from her friend Tomáš, who has the same diagnosis. She took part in a recitation competition, played in the theater, and this year learned to play the piano. Now she’s in third grade and I go to feed her every two and a half hours. If I’m not right there with her, I’m within five minutes of the school and am constantly available on the phone. The same applies to hobby groups, school trips, movies and concerts. I’ve become an unpaid assistant to my daughter with a 24-hour work day. My husband had to change his job to ensure the existence of the household, and ever since he was small, my son has had to adapt to the unconventional way the family is run. People around us tend to either downplay the severity of Karolínka’s illness because she looks like every other child, or on the contrary they give it tragic proportions when they find out that the poor girl has a feeding tube in her tummy. Paradoxically, what enables her to live at least a somewhat normal life is what they see as the greatest handicap.

Among our friends, only a couple of hardcore ones remain; the others have such different lives from ours that we simply don’t have anything in common. In 2009 I founded an organization called METODĚJ, which is an abbreviation in the Czech language for Among So Many Children, Only One, which helps the families of children with rare diseases. Joint meetings and events aimed at supporting specific children and institutions gives us space to share both the amazing experiences in our lives and its somersaults.

Just as it’s hard to describe how painful a trip to the dentist can be, it’s nearly impossible to describe to parents of healthy children the horror you experience when your child is laying in the ICU and you’re waiting to see whether they recognize you when they wake up. As parents, we value the lives that our ill children lead, and we’re learning not to compare those to the lives we would wish for them. And that’s the hardest thing.

 

Written by Simona Sedláčková

Note: This rare patient story is the fifth in a six-part series that features rare patient stories from the Czech Republic. Tune-in on Wednesday morning to read these accounts from rare disease patients.

 


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