Skip to main content

Donate!

Huvudmeny

  • Home
  • About Us
    • Diversity, Equity and Inclusion
    • Swedish Care Hero
    • Helene & Mikk Cederroth
    • Wilhelm, Hugo & Emma
    • Name & logotype
    • The Foundation
    • Black Pearl Awards 2018
    • Contact us
    • Media
  • Diagnosis?
    • Undiagnosed
    • Diagnostics
    • Undiagnosed Diseases Program
    • Symptoms
    • Cause
    • Meaning with a diagnosis
    • Undiagnosed Children
      • Astor is undiagnosed despite Whole Genome Sequencing
      • Why is Calle so ill?
      • Freya has an undiagnosed disease
      • Thelma is undiagnosed
      • Blogs and Instagram
  • Relative
    • Parent support group
    • Juristhjälp
    • Grand Parents Group
    • Family Camp
    • Family Weekends
    • Tips & Help
  • Contribute
    • Swish
    • Monthly Doner
    • PlusGiro BankGiro
    • Facebook Fundraiser
    • 90 Account
    • Tax reduction
    • Gift shop
    • Gåvobevis
    • Gift Certificates
    • Brevkort
    • Flower Cards
    • In Memory
    • Minnesgåva Minnesbrev
    • Bracelets
    • For Companies
    • Be a Volunteer
  • International
    • World Congresses
    • UDNI and UDP
    • UDNI's working groups
    • Photo project UNDIAGNOSED
    • Talks
    • Conferences and Meetings
    • Medical Publications
    • Medical Advisory Board
    • Community Engagement Task Force CETF
    • Medlemskap i:
  • Silver Lining
    • Guldkant ögonstyrning
  • English
  • Swedish

Thelma is undiagnosed

Thelma is born in April 2020.

Thelma has undergone clinical genome sequencing at Karolinska University Laboratory. An analysis of sequence data from her mitochondrial DNA has not shown any molecular reason for her clinical picture. An indistinct variant, m.12613G>A was shown in the analysis. This result has been validated using Sanger sequencing. A supplementary analysis of mitochondrial DNA in blood from me (the mother) has shown that I also have this homoplasmic variant. It is thus highly probable that the variant is an uncommon normal variant, and is not considered to contribute to Thelma’s clinical picture. At the moment, re-filtration of the same sequence data is being undertaken using the gene panel test for congenital metabolic diseases which also includes nuclear mitochondrial genes.

 

Girl

 

Thelma has feeding problems and has a gastrostomy button; she has extremely low muscle tone, and is not able to eat herself. Her breathing during the nights is irregular; she suffers from vomiting and is not able to cough. She has extremely sparse motor skills. She needs supportive aids when sitting. She is not sufficiently strong to hold her head up, but needs support for this in all positions. She cannot hold her trunk up at all. Has severe hypertension with generally decreased muscle tone.

Thelma is delayed in her psychomotor development. She is at the 3-4 month stage. She cannot sit or move herself on her own. She has low endurance and quickly becomes tired. She has clear hypertension and needs a good deal of assistance and support in her motor development. Her development is very slow.

It is not clear how visual and aural interpretation of impressions takes place in her brain.

Her balance, coordination, motor skills, muscular strength, voluntary motor skills, ability to balance and trunk stability are severely impaired.

Respiratory registration in Stockholm since Thelma suffers from respiratory arrest at night.

Digestion and metabolism functions are very slow.

Thelma becomes slightly discoloured in the lower extremities if, for example, she is held in a sling or lies in the babysitter for too long. Thelma is being monitored at the cardiology clinic because of ASD and PFO and is also on medicine because of her high TSH values.

Thelma is short in height and has small hands and feet. She has a protruding, slightly bulging and plump behind.

Short legs and arms. Chubby thighs and clear creases in her behind and sex organs. Slightly more skin in her neck. A slightly more protruding upper jaw. Two teeth have come in both her upper and lower jaws. She has difficulty in producing a clear laugh and cries very little. She always gets hiccups after laughing. Seemingly laboured laughter and crying. Cries very seldom. Seems highly pain-resistant. Very seldom shows fear. Is generally very satisfied and happy. Curious and completely aware of the members of her family. Shows no signs of shyness, but is worried if I (her mother) am not within Thelma’s (visible) range.

Left navigation

  • Home
  • About Us
  • Diagnosis?
    • Undiagnosed
    • Diagnostics
    • Undiagnosed Diseases Program
    • Symptoms
    • Cause
    • Meaning with a diagnosis
    • Undiagnosed Children
      • Astor is undiagnosed despite Whole Genome Sequencing
      • Why is Calle so ill?
      • Freya has an undiagnosed disease
      • Thelma is undiagnosed
      • Blogs and Instagram
  • Relative
  • Contribute
  • International
  • Silver Lining
  • English
  • Swedish
Stenungsbaden Yacht Club AB
Thank you Anatomic Sitt AB !
Thank you DataExpert Nordic AB!
Thank you G Kinnvall AB!
Tack Katmai AB!
Thank you Ica Brottbyhallen!
Stort tack Rydman & Langå Fastighetsmäkleri för er generösa gåva till Willefonden
Speedledger logo
Stort varmt tack för den generösa julgåvan!
Stort tack Hugos Stiftelse (Glädjeruset, God Assistans) för sponsring av familjelägret!
Stort tack till Valjeviken, vi ser så framemot att ha familjeläger hos er!
Thank you AbiCart!
Varmt tack för sponsring av Willefondens pärlarmband!
Tack Fortnox!
Tack för sponsring!
Stort varmt tack för julgåvan!
Camelina of Sweden
Pareto Securities
Show all our business friends

Wilhelm Foundation

Sandbacken 
S-186 97 Brottby
+468-512 418 94
info@wilhelmfoundation.org

Be a Volunteer ›

 

More ways to help out ›

facebook

Follow Wilhelm Foundation on facebook

Made by AddWeb Solution