Gender and year of birth
Female, 2018
Description
Lykke has bad balance and is stiff and clumsy. Sensitive to sounds and smells, frequent vomiting, mode swings. Temperature regulation is impaired. Thin arms and legs and inflated stomach. She has hypoglycemia which is difficult to manage.
Mother has neurofibromatosis type 1
Symptoms / Signs
- Gastrointestinal dysfunction
- Eating aversion
- Hypoglycemia
- Disturbed sleep
- Stiffness
- Motor difficulties
- Sweating
- Difficulties regulating body temperature
- Emotional
- Café au lait spots
Current Treatments
- Ferroglycine sulfate complex
- Potassium chloride & Macrogol
- Nestlé Resource
- Neocate Junior
- Dextrose
- Freestyle Libre Flash Glucose Monitoring System
Prior Treatments
- Nexium
- Melatonin
- Promethazine
Considered treatments
- PEG
Previously Considered Diagnoses
- Cystic fibrosis
Genetic Variants of Interest
- Mutation on POLRMT gene - c.1868c>t, p. (Pro623Leu), c.2226c>G, p. (Pro742Pro)
- Parents are both heterozygous a predisposition carrier.
- Reduced amount of complex I+II+IV
Siblings, age & gender
Brother born 2019
Contact
If this participant sounds like you or someone you know, please contact Wilhelm Foundation at info@wilhelmfoundation.org
Bio
Lykke is an energetic girl who likes bathe, dance and play with her "little things". She has a tremendous memory and can recount things that have happened way back.
