October 3rd we will see our geneticist again. We tend to only see her once a year. We are in search for the overarching genetic syndrome Jayson has. The genetics team is excellent at looking at physical signs and connecting them with syndromes they commonly see. They also have a great database for looking up symptoms. However, we get an hour. That's it. We will see our geneticist and explain any new conditions that have appeared over the past year. We will discuss new doctors we have seen, the new conditions and diagnoses, new symptoms, symptoms that have improved or disappeared. Our geneticist will take notes while I'm talking, and will take pictures of Jayson's unique features. She will then quickly read through the millions of doctors notes over the past year to make sure we aren't missing anything. She will then disappear for about 10 minutes while she runs things through her database. We will typically get a couple of syndrome ideas, discuss them, disprove them, and then try to come up with a future plan. ALLLL in an hour.
Due to the time restriction, it is very important I am prepared for this appointment. I need to be ready to discuss possible syndromes that I have researched, and request testing if necessary. There are thousands and thousands of syndromes, so it is impossible to read about ALL of them and bring all possibilities to the doctor's attention. This is why so many children go their whole lives without being diagnosed. So, how can you help? Spend some free time googling and researching possible syndromes. Use this list of symptoms to guide your search. Some symptoms may be part of his syndrome, and others may just be "Jayson". Or, maybe there's a syndrome with all of these symptoms. I have spent a lot of time researching, and it still surprises me how much I miss. My sister and several friends have brought rare syndromes to my attention that I have somehow missed, simply by googling or knowing somebody who had something. Please don't hesitate to throw anything at me! I can sort through your ideas and bring the best possibilities to the attention of my geneticist.
Jayson's conditions include:
- Chiari I Malformation
- C1 ring hypoplasia
- severe laryngomalacia
- central and obstructive apnea
- GERD (reflux)
- aspiration
- G tube fed
- O2 dependent
- hypotonia (low tone)
- nystagmus
- Duane Syndrome in right eye
- chronic constipation
- dysphagia
- seizures
- possible Sandifer Syndrome
- bradycardia
- craniofacial abnormalities
- hypertelorism (eyes far apart)
- flat nose bridge
- large forehead
- low-set ears, turned
- chronic lung disease
- autonomic nervous system dysfunction
- positive disposition
- global delay
- Motility issues (gastro-related)
- High palate
- Feet turn inward, stands on toes
*no defined kidney conditions
A couple of useful websites are:
- List of rare diseases: http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf
- Reliable Google pages: emedicine.medscape.com, mayoclinic.com, http://ghr.nlm.nih.gov, www.genome.gov
Please email me or FB message me with any or all of your ideas. Thank you all for your help, prayers and support!
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