The diagnose

A second diagnose

When Yorick was born his big toes were so bended that they pushed his second toes up. His thumbs also seemed to be somewhat different than ‘normal’. But we had no idea what this meant.  In the first three years of his life we consulted different specialists. They each looked at his toes and thumbs, and then told us that they had never seen something similar before.

We were referred to other doctors, or told to come again in another six months, or they offered to ‘try’ something. But none of them could give us an explanation why his toes and thumbs were so different. Naturally we also searched on the Internet. We were only able to find one (Dutch) website on which toes like Yorick’s were described: The Dutch FOP website.

At that time there was no way that we could ever imagine that Yorick actually could have this disease. Children with FOP would get big flare-ups after every small injury, was said on this website. Yorick fell and bumped himself a lot in those days, with only a bruise every now and then as a result. We know now that the disease wasn’t active yet at that time. But back then we chose to disregard the information, and moved on.

Yorick was three-and-a-half years old when he bumped pretty hard one day, with a big flare-up as a result that covered half of his back. At that time we thought Yorick had some kind of over-sensibility, because earlier that year we had visited the doctor after Yorick’s neck suddenly became swollen (“inflammation of the throat”) and another time when his face suddenly looked very puffed (“over-sensibility for a mosquitoe bite”).

But while we were talking about it to each other, we remembered this one website... Which was quickly recovered, and we found out that the way these ‘FOP flare-ups’ were described was very similar to what was happening on Yorick’s back.

After a sleepless weekend we made an appointment with the pediatrician. We had the print-outs from the website with us, but we still hoped that the doctor could give us another explanation.

But when he said, after taking one look at Yorick’s back, “What is this in Heaven’s name?” our hope began to shatter. The pediatrician really made an effort to find another cause. Especially when the MRI scan showed no sign of extra bone inside the flare-up. But somehow he felt that the results of the scans and the blood test didn’t match properly, so he referred us to the nearby Academic hospital for further genetic research. By that time the flare-ups had extended to Yorick’s shoulders, which he could hardly use anymore. After a month the Medical geneticist could finally confirm what we already knew: Yorick had FOP.

Looking back I think the Medical geneticist might have found our reaction that day a bit odd. He didn’t know we gave the print-outs from the website to the pediatrician and found out about this disease by ourselves. He started very cautious: “We found out that Yorick has this very worrisome illness, that is called Fibrodysplasia Ossificans Progressiva …” and we reacted like “Yes, fine, but where do we go from here?” 

And we were relieved. That might sound strange, but the weeks prior to this final diagnose had been hard for us. We went on a holiday, but had doubts about everything. Should we go to the swimming pool? If he does have this disease it might be too dangerous, but if he doesn’t  it’s not a problem. And if he should fall, do we have to take any action, because if he does have this disease... Being given the certainty still was a shock, obviously, but now we could start to ‘do’ something. Like finding more information, speak to other patients. And, more important: Tell our family and friends.

Looking back the diagnose came just in time. Five days later we were in the back garden with Yorick when he suddenly turned around on the bottom stairs of the glide, and fell. It was very obvious right away that his arm was broken. We rushed to the hospital where they found out both of the bones in his fore-arm were completely broken through. The orthopedist wanted to perform an operation. A light panic arose “But he is not allowed an operation,” we said.  The doctor reacted: “You might not want this, but then he might always remain having some problems with this arm.

He probably thought we were some kind of religious fanatics. We told him: “And if you do operate him, he might never be able to use his arm again!” The orthopedist walked away frustrated and handed us over to one of his colleagues, who luckily took the time to find out what he should and should not do with someone who has this rare disease. We really don’t want to imagine what might have happened with Yorick if we hadn’t known about FOP and Yorick would have had surgery...

After the ‘first diagnose’ with Yorick having Fibrodysplasia Ossificans Progressiva (FOP) there were still some loose ends. Although we now had an explanation for his crooked toes and thumbs, and we knew what the flare-ups were and did, we still had some questions unanswered.

That is, Yorick behaved somewhat different than ‘normal’ ever since he was born. He was late with learning to walk, also with talking and he showed little affection. He also could become very angry over just the smallest things. He frequently threw all the plates and cups from the table during supper. As a baby Yorick cried much, had trouble falling asleep and was wide awake after the smallest sound. He wasn’t interested in any of his toys, but he did empty my cupboards time after time... Now we can look back with a smile, but in those days it made me gloomy every now and then.

Because I always kept the feeling there was ‘something’ wrong with Yorick, he got tested to see if he had any arrears in his development. But these results also didn’t give any clear answers.  .

Our speech therapist was the first one who brought up the possibility to have Yorick tested for PDD-NOS. When he first mentioned that I had no idea what PDD-NOS was, so I was a bit startled when the word ‘Autism’ popped up on my screen after I googled it...

Other specialists of Yorick confirmed that he had ‘some characteristics’ that could indicate he had some sort of Autism, so Yorick was placed on a waiting list for further examination. Waiting period: 18 months.

To make a long story short: In these 18 months waiting period, the FOP began. And by getting that diagnose, our entire world was turned upside down. From ‘just a normal family’ with a headstrong toddler we became a family that needed to place Yorick in the center of everything, just to make sure he was safe. And strangely enough that worked out very well for Yorick, he became calmer and more easy going.

Shortly before Yorick’s fourth’ birthday he finally was summoned for the examinations. And exactly on his birthday we were invited in Gent to hear the results. Yorick indeed had ASS, Autism Spectrum Syndrome. They don’t make an official distinction between the different kinds of Autism, but his doctor explained that in ‘the old system’ they would have called it Aspergers Syndrome. Or, as we like to call it: A milder kind of Autism with a normal or high intelligence..

It didn’t startle us as much as receiving the first diagnose. After all it did finally explain all the ‘loose ends’ that were left. We also had the strong feeling that we could handle this as well... Let's just say Yorick was first in row when they started to hand out the ‘special features’.

The profit of having a clear diagoses is that you can finally get some help from the government. Thanks to the ‘backpack’ (Dutch system of Financial support to make it possible that a special needs child can attend a regular school) Yorick is able to go to our local school. At home we have a special ‘Personal Budget’ for Yorick, provided by the government to hire some extra aid.

It might sound odd, but the combination of having both FOP and ASS is sometimes even a blessing. Yorick doesn’t compare himself with others, and having FOP is just a ‘fact’ for him that doesn’t bring him any self-pity or other emotions.