Rothmund-Thomson syndrome (RTS)

I feel like I don’t know enough about this topic to blog about it, but seeing as I have no other choice but to learn more about it, I feel like I have to say at least something. Yesterday after going mad at the receptionist I had a phone call from another dermatologist, they gave me the results of Alfie’s skin sample, blood tests and photos, there is a 90% chance that Alfie has rothmund-thomson syndrome, aka RTS. Before you go and google this, like I did, online there is only stories of pure horrific things, I’ve been in touch with people all around the world who have this condition and they all mostly live happy lives.

So what I do know about RTS from my doctor is this;

People with this condition typically develop redness on the cheeks between ages 3 months and 6 months. Over time the rash spreads to the arms and legs, causing patchy changes in skin coloring, areas of skin tissue degeneration (atrophy), and small clusters of enlarged blood vessels just under the skin (telangiectases). These skin problems persist for life, and are collectively known as poikiloderma.

Rothmund-Thomson syndrome is also characterized by:

  • sparse hair, eyebrows, and eyelashes;
  • slow growth and small stature;
  • abnormalities of the teeth and nails; and
  • gastrointestinal problems in infancy, such as chronic diarrhea and vomiting.
  • Some affected children develop a clouding of the lens of the eye (cataract), which affects vision.
  • Many people with this disorder have skeletal abnormalities including absent or malformed bones, delayed bone formation, and low bone density (osteopenia). Some of these abnormalities affect the development of bones in the forearms and the thumbs, and are known as radial ray malformations.
  • People with Rothmund-Thomson syndrome have an increased risk of developing cancer, particularly a form of bone cancer called osteosarcoma. These bone tumors most often develop during childhood or adolescence.
  • Several types of skin cancer are also more common in people with this disorder.

However, after talking to the ever-so-brave and truly inspirational people who have been answering my questions, I feel less like my heart has been broken and more positive. They are so lovely and welcoming and I think if I hadn’t of spoken to them, I WOULD be at breaking point. Ever since Alfie was born he has been incredibly strong, when he was minutes old he was pulling on a wire while they wiped blood off him, the nurse was in so much shock she took a photograph to show me and was amazed. Alfie currently, has no problems with his bones that im aware of, he is not slow in any way and in my opinion is rather advanced. I’m hoping and praying that if he does have this, he just has the poikiloderma. That way although sensitive to sunlight, his bones should be fine.

I feel like I don’t know as much as I would like to know about this condition, therefore I feel I have not much more to say about it except that I hope they are wrong. I have been waiting 7 months for these results, yet still none of the 46 dermatologists Alfie has seen, had any idea.

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