Tina and Kyle’s story: searching for answers

Tina and Kyle’s story: searching for answers

Tina could never have imagined that three years after the birth of her son Kyle, born a healthy child, that she would be receiving the news that Kyle, now aged 7, had been diagnosed with FOXG1 syndrome. Doctors were not concerned in the first few months of Kyle’s life when Tina noticed he had problems firstly with temperature regulation, then sleeping difficulties and always wanting to be close to her.
“It’s always difficult to gauge the severity of these problems with a newborn child, especially if it’s your first born.” Tina told us, a sentiment that is shared by many other parents we spoke to with first born FOXG1 children, whose concerns are often dismissed as “over-anxiousness” by healthcare professionals.

“It’s always difficult to gauge the severity of these problems with a newborn child, especially if it’s your first born.” Tina told us, a sentiment that is shared by many other parents we spoke to with first born FOXG1 children, whose concerns are often dismissed as “over-anxiousness” by healthcare professionals.

The troubles continued four months later when Tina noticed Kyle had problems with eyetracking, taking him to see an ophthalmologist. To Tina’s dismay and frustration, her concerns were ignored again. “It was clear the consultant was used to seeing older patients and had difficulty handling Kyle.” explained Tina. She later took Kyle to another clinic at Munich University, who again claimed nothing was wrong.

Unconvinced and determined to find answers, Tina took Kyle to a specialist paediatric clinic in Stuttgart, where Kyle had an MRI scan. The MRI revealed Kyle’s corpus callosum, a structure that connects the left and right sides of the brain allowing them to communicate with one another, was missing.

But what did this all mean?
Still without an official diagnosis, Tina spoke to a family friend who happened to be a paediatrician and invited her and Kyle to his clinic in Heidelberg, where Kyle underwent a week of intensive testing. Doctors found an absence of myelin in the brain, but still were unable to give a diagnosis. Wanting a second child, but worried that Kyle might have a hereditary condition, Tina and her husband decided to get a genetic test for Kyle. Finally, after three years of searching for answers, the genetic test revealed Kyle had FOXG1 syndrome, caused by a spontaneous frameshift mutation. Tina describes the contrast in emotions between her and the geneticist:

“The geneticist was so happy she had discovered what was wrong. I however was in complete shock and absolutely devastated. They told me Kyle would never be able to walk or speak. Although I knew this wasn’t completely true as Kyle by then was able to speak five words.”

Life suddenly felt like it had been turned upside down for Tina and her family. As FOXG1 syndrome is a rare condition, there was very little information for Tina to turn to when further problems arose. This was especially difficult when Kyle started to have seizures, which Tina said has been the hardest thing to deal with; “It’s hard to even know when the onset of a seizure is happening as there is no available guidance written by doctors. At first I didn’t want to leave Kyle alone with anyone because I was so afraid of what would happen.”

We came away feeling very inspired by Tina’s commitment to finding help and answers not just for Kyle, but for families all over the world, and wish her, Kyle and her family a happy future.

Fortunately, Kyle has now been prescribed anti-epileptic medication which is able to keep his seizures under control. Despite his condition, Kyle is a very happy child who is able to attend a school specialised for handicapped children, and loves swimming and animals, including horseback riding. Tina and her husband went on to have a second healthy child, a surprise to many of her friends who, after seeing what happened to Kyle, decided not to have children themselves, much to Tina’s frustration.

Moreover, Tina has found much solace in various Facebook and WhatsApp groups of other FOXG1 families in Germany. “At first I couldn’t face joining or seeing other children with FOXG1 who might be even in a worse condition than Kyle.” But she has found the groups to be of immense help where families are able to give advice and support to one another, especially related to matters such as seizures. However whilst other families might be supportive, Tina faces a constant battle with German authorities over Kyle’s care, telling us most recently she had huge difficulty getting a feeding chair for Kyle installed at home. Even doctors’ appointments can be challenging, with Tina citing her experiences when Kyle first started having seizures, with doctors reluctant to prescribe anti-seizure medication. Tina finds she has to prepare and research extensively prior to any appointments in order for doctors to properly listen and take her concerns seriously.

Despite all the challenges she still faces on a daily basis, Tina is determined to help other families with the FOXG1 condition in whatever way she can. Tina is very active herself in the research community and is extremely grateful for the current work being done to understand the underlying causes of FOXG1 syndrome. “It was only when I went to speak to researchers working on FOXG1 syndrome directly that I finally understood what Kyle’s condition meant.” she explained, having not even received a report from the geneticist who diagnosed Kyle. She is currently a worldwide team leader for the FOXG1 Research foundation, travelling to Birmingham for their recent conference, and even managed to gain a place on the ‘Up on your feet’ programme in Cologne, where she was able to talk to scientists about Kyle’s condition. When asked about what she wanted research to achieve, Tina replied, “ I understand finding a cure for FOXG1 is extremely unlikely, so I want researchers to focus on trying to find treatments that can help patients manage the symptoms”.

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