Daisy: “Amber was born without any worries, but later it turned out she had a very rare hereditary disease”

On March 22, 2021, our second daughter Amber was born via a planned cesarean section

Our dear healthy baby of almost 4 kilos was quickly lying next to me in the co-sleeper. Amber was an incredibly cheerful baby and the first year there was not a single problem in our little family of four. Her thirsty behavior and the heavy wet diapers were no reason to think that something was wrong with her. After all, every child is different. But after Amber turned 1 year old at the end of March 2021, our beautiful bubble quickly changed.

At the clinic, it was noted that Amber's growth was stagnating

In terms of both length and weight. Our eldest daughter Milou experienced this around her first year of life, so my husband and I were not worried at all and thought it would naturally correct itself. “She will surely follow her own curve, just like our Milou did. She couldn't always remain such a chubby baby, right? Moreover, she was very active. She was still as cheerful as ever,” we thought. All good reasons not to look too much into it.

When Amber had lost weight after two additional appointments, alarm bells were raised

At the clinic, they suspected an allergy to something like lactose or gluten. For this, we were then referred to the pediatrician at the hospital. Full of hope, I arrived at the outpatient clinic with Amber. The conversation was much more intense than we had anticipated. They immediately talked about tube feeding. We did not see that coming. Amber was still so cheerful and happy. Fortunately, we were given a week to try to get Amber to gain weight with tips and tricks.

Unfortunately, Amber turned out to be indeed gluten intolerant

Therefore, she was diagnosed with Celiac Disease. We hoped that she would still gain weight once her intestines had recovered after a week of being gluten-free. Unfortunately, nothing worked and Amber also seemed to become sicker all of a sudden. She began to vomit a lot and we really started to worry. Nothing was left of our plump little baby. The doctor shared our concerns. We were admitted to the hospital. We, as in Amber and I, my husband has his own business and of course, our other daughter Milou was still there. Mom wasn't there, but we still wanted to keep things as stable as possible for her. The first step to counteract the weight loss was for Amber to get a nasogastric tube. At that time, I thought that was the worst thing Amber had to endure... Now I wish that was all there had been to it.

After a day or two, it turned out that there was indeed something wrong with Amber's kidneys

These did not do what they were supposed to do, and of course, that did not help with the weight gain or reducing vomiting. After consulting with us, Dijklander Hospital and the AMC, it was decided that we would be transferred to Amsterdam to the Emma Sport department. Off we went. In less than a week, our healthy baby was no longer a healthy baby. Our lives had already been turned upside down by the diagnosis of Celiac Disease, but there was more going on. We were extremely worried about what exactly was going on with our little girl.

At the AMC, Amber underwent one test after another

The nephrology department, metabolic diseases, the ophthalmologist, and other specialists all came to our bedside. Amber's urine and blood were extensively tested and it quickly became apparent that her kidneys were letting through too many good substances and Amber was urinating a lot. This was reason enough for the nephrologist to investigate further. Meanwhile, Amber and I had already spent a week in the hospital. We received visits from my husband, Milou, and family as often as possible.

Amber has cystinosis, a very rare hereditary disease

On July 20, 2022, we had a conversation with the nephrologist. He explained that following an examination by the ophthalmologist, a preliminary diagnosis had been made for Amber. She has cystinosis, a very rare hereditary disease. Later, this was confirmed through blood tests at Radboud UMC. It is the only hospital in the Netherlands authorized to make this diagnosis because they specialize in it and the disease is so rare. Our world collapsed. I had read about this disease and the prognosis was anything but bright. Kidney failure, transplantation at a young age, vision impairment with possible blindness, damaged organs, muscle weakness, growth and developmental delays were the consequences. She had a life expectancy of about 50 years. If only Amber had just been diagnosed with Celiac disease.

Amber has a hereditary metabolic disorder in which the amino acid cystine accumulates in various organs of the body, such as the kidneys and eyes

The large amounts of cystine then form crystals, which damage the cell they are in. Currently, Amber's kidneys and eyes are being continuously affected. Therefore, she must receive various types of medication and special eye drops. This has to be done several times a day at set times. We have embarked on a long journey to take care of our little girl as well as possible. Amber has now received a PEG tube that goes not through her nose, but directly into her stomach through her abdomen, and through this tube, she receives various medications several times a day. She also still receives tube feeding through her PEG tube, as Amber hardly eats. This too is a symptom of the disease: no feeling of hunger and a lot of nausea. When Amber is older, we can explain to her why it is still important to eat. Right now, that's not possible, and she desperately needs the nutrients from the tube feeding.

Cystinosis never goes away

So this will be something that Amber carries with her for the rest of her life. It has a major impact on our entire family and that is likely to continue. The disease progresses differently in each child and therefore the future is uncertain. One thing that hasn't changed is that Amber is still an incredibly happy and cheerful little girl. She has gained weight again and continues to develop well to this day. Our vision of the future and our dreams and wishes for the future have changed significantly, but we try to stay as much as possible in the present. Despite the uncertainty, we try to make the best of it together and above all to enjoy a lot.

DAISY