medical expenses for nomi with galactosemia
Organized by: jabu madlala
POTENTIAL LONG-TERM COMPLICATIONS
October 23, 2016
EVENT DATE Dec 16, 2016
Galactosemia is a condition in which the body is unable to process galactose, the sugar present in milk. Accumulation of excessesive galactose in the body of a galactosemic can lead to many health problems including liver damage, brain damage, and cataracts. Galactosemia has affected us in many ways. We have had to take plenty of dreaded trips to all different kind of doctors offices.
Our daughter was diagnosed, in an african hospital where doctors and the whole hospital never had a patient with such a condition from new births.
It took the doctors forever to research the problem as they did not know what they were doing and what the y needed to do
While all that was happening the health of our daughter was deteriorating and now she was in ICU on pipes, etc
Next, the daughter needed fresh blood as the baby was not taking any food, could not be breastfed as we were told the milk was poisonous. Blood donors have to be of the same TYPE, now the parents needed to do blood tests to see. Parents did not have the same TYPE (weird), so the doctors started looking for blood TYPE compatible elsewhere. It took a week, by then the condition had worsened.
All in all - we needed to find a solution, the duaghter was stabilized with new blood, still she could not take dairy milk nor breastfed.
Daughter was discharged from the hospital.
Three days later, we noticed that the right arm was not moving. We had to take the daughter back to the hospital for observation by a bone doctor. The gynaecologist who delivered the baby, broke the collar bone and never noticed at the time.
The daughter needed to have an operation - remember she was very tiny and underweight as a result of being in the ICU for 2 weeks not eating nourished supplements.
She had surgery on the arm and was discharged after a week. The arm never fully recovered 100 percent up to today.
We then decided to raise money and travelto the USA to seek medical advise and assistance.
We ran out of money to proceed with medical treatment, consultation as doctors in the USA want your money upfront or no consultation, and demand medical aid as an alternative which we did not have.
Our major concern is we need to proceed with the doctor visits, checkups, blood tests, and other laboratory tests as our daughter now is 17 and want to know the answers.
We need medical support/ help over a six month period. Symptoms vary throughout the growth lifecycle and differ for man and woman, i.e. ovarian problems will occur to woman.
We request your assistance towards medical expenses beginning with doctor consultation, hospitalization, pharmacy, laboratory tests to be conducted, physical therapy, revisits, travel to various hospitals.
Galactosemia is a family of genetic disorders that result from compromised ability to metabolize the sugar galactose; the term “galactosemia” literally means too much galactose in the blood. The different types of galactosemia include Classic and clinical variant galactosemia (aka Type 1 galactosemia) Duarte variant galactosemia Classic and clinical variant galactosemia are rare genetic metabolic disorders.
The patient with classic galactosemia carries deleterious mutations in both copies of their GALT gene so that their blood shows essentially no detectable residual GALT activity. The patient with clinical variant galactosemia also carries deleterious mutations in both copies of their GALT gene, but one or both mutations leave a small amount of residual GALT activity. In the vast majority of cases, the GALT mutations in classic and clinical variant galactosemia are inherited so that both parents of an affected child are carriers. Rare exceptions occur. Patients with classic galactosemia are sometimes described as having the genetic makeup "G/G."
When a person who does not have galactosemia consumes food containing lactose (e.g., dairy products such as milk, cheese, butter), their body breaks down the lactose into galactose and glucose, and then further metabolizes both of these sugars. The human body also is able to make “endogenous” galactose. When a person with galactosemia consumes food containing lactose or galactose they are not able to fully metabolize the galactose, so it can build up in their cells and tissues. Galactose that is synthesized in the body may also build up. Other molecules derived from galactose, such as galactose-1-phosphate (Gal-1P), galactitol, and galactonate, may also build up in the cells and tissues of patients with galactosemia, especially if they are consuming high levels of dietary lactose or galactose. Untreated, classic and clinical variant galactosemia are potentially lethal disorders.
If an affected infant continues to drink milk the baby may develop symptoms that progress in days from jaundice, vomiting, and diarrhea, to liver disease and failure to thrive, and eventually to E. coli sepsis, which can be fatal. Diagnosis is made usually within the first weeks of life in follow-up to newborn screening, which is a blood test from a heel prick offered to all newborns in the United States and many other countries. Treatment for classic or clinical variant galactosemia requires the immediate and strict exclusion of lactose/galactose from the baby’s diet. This is usually accomplished by switching the baby from drinking breast milk or a milk-based formula to drinking a low galactose formula, such as soy or elemental formula. Even with early diagnosis and careful restriction of lactose/galactose from the diet, however, patients with classic and clinical variant galactosemia remain at increased risk for long-term complications that include speech and language, fine and gross motor skill delays and specific learning or cognitive and behavioral disabilities. Some patients experience many of these complications; others do not. Primary or premature ovarian insufficiency is also very common among girls and women with classic and clinical variant galactosemia. Prenatal diagnosis by genetic or biochemical testing is available.