A case of a 42 year old woman with multiple health events since birth

The demographic details of the patient are given in the link https://classworkdecjan.blogspot.com/2019/05/42-f-with-severe-regular-edema-with_17.html?m=1

This is a case of a 42 year old female with severe health problems since birth which are 

1) Swelling (face and abdomen)

H/o swelling since age 1till date

Mainly in the face, neck and abdomen area

It triggers on exposure to emotional stress, smoking,exercise, and eating any wrong food 

Reason for this is hemolytic crisis due G6PD deficiency for which she is diagnosed last year 

Investigations:

CBP and peripheral blood smear 

Direct and indirect bilirubin levels 

SGOT and SGPT levels 

Chest XRay

Haemogram

Urine examination for any infection

LFT

Treatment: 

cimitidine 

Avoid stress and have food rich in antioxidants 

2) Head ache 

Started at age 2 and became worse by age14

Preceded by aura and also associated with numbness in left side of face 

Increased in severity over time

Reason could be hemiplegic migraine , or any tumor 

Investigations : 

CT and MRI of Brain

CSF analysis 

EEG

Intracranial pressure

Treatment: 

Triptans like sumatriptan

Anti nausea medications 

3)Difficulty in breathing 

Not able to breathe properly from very young age 

Reason could be right heart failure due to G6PD deficiency which is diagnosed

Investigation: 

Chest XRay 

BNP levels to rule out heart failure 

Treatment: 

Oxygen therapy 

Ruling out underlying cause and its treatment 

4) Fatigue

Complains of easily getting tired 

Reason could beoxidative stress due to G6PD deficiency and AMPD1 deficiency 

Treatment: 

Ribose given helps her by direct source of energy to cells 

5) Left sided weakness 

Loss of function of left side of body along with numbness on left side of face mainly during migraine attacks

Frequent falls to left side and broke ankle  by fall from stairs

6) Sleep disturbances

Duration 2 to 4 hours

No REM sleep

 Treatment:

L serine helps for good quality sleep 

Other complaints : 

Excessive hair at age of 3 and also history of ectopic pregnancy  and dysmenorrhea 

Increased pain tolerance WNK1 hereditary sensory neuropathy 

Rashes on face(2 to 4 times a year ) and same time warts and EBV reactivated 

Increased risk of infections 

Sensory disorder  clothes and physical contact are unbearable 

 Treatment: 

Ribose diet 

L serine for sleep 

Reducing oxidative stress

Vitamin B complex  

Anti oxidantvitamins 

Fructose and antioxidant 

Keto diet 

Iron folate medications 

Cimetidine for swelling 

Salt and butter