I know a lot of people have asked about Shelby's condition and how they could help her. I wanted to write a digestible response- as it has taken me six months to really understand everything our doctors have taught us about Shelby's disease.

Any donations made will go to Shelby's medical food, medicine, and ongoing treatment.

WHAT IS GLUTARIC ACIDIMIA TYPE 1?

(Other names you will see this disorder called, Glutaric Aciduria Type 1)

Massachusetts has a mandatory Newborn Screening test that checks babies in the hospital for rare disorders and diseases. GA-1 is one of these rare metabolic diseases.(How rare? 1 in 100,000 babies are born with GA-1 and there are an estimated 150 cases in the United States.)

Individuals diagnosed with GA-1 cannot break down the amino acids Lysine, Hydroxylysine, and Tryptophan (think Turkey at your Thanksgiving dinner.) These amino acids are found in protein- which is in all food groups (including vegetables), but are especially high in meat, fish, dairy, legumes, and nuts. When these amino acids aren't broken down in the body, harmful substances build up and cause major problems that lead to brain damage.

HOW BAD IS THIS BUILD UP OF SUBSTANCES?

If a baby is not diagnosed in the first week of birth, by 2 months of age the baby will most likely suffer severe, irreversible damage. Untreated babies will experience a metabolic crisis, and develop symptoms such as muscle spasms, seizures, brain swelling, and comas that eventually lead to death.

Babies and young children with GA-1 have very compromised immune systems and are born with a larger than average size head. Accidentally hitting their head during even a minor trip or fall can cause severe brain damage because the baby's brain has no cushion or security to protect against impact.

Even if GA-1 babies can avoid a fall or metabolic crisis, many patients still experience side effects such as learning disabilities, development delays, and low muscle tone. It is crucial to follow the special doctor's treatment plan to avoid these problems.

Treatment is lifelong, as there is no cure for this disease. Babies will need to start treatment immediately, and must work with a specialized doctor and specialized dietician for the rest of their lives. Treatments include:

-A very specialized food plan

-Daily doses of the medication L-Carnitine

-Frequent eating periods for infants and young children (every 2-3 hours)

-Regular blood tests to monitor amino acid problems and build ups

-Avoiding high contact activities/sports

-Avoiding illness and getting sick and (most importantly) avoid getting a fever. Even minor fevers can lead to a metabolic crisis, and patients need to worry about the brain damage that results from these fevers. Sick children have an emergency protocol to follow that is designed by their specialist team, and usually require hospitalization in early years.

Unfortunately for GA-1 patients, all babies need protein to grow. Without protein, babies can not develop physically or mentally. So GA-1 babies must still eat small, very controlled portions of protein accompanied by frequent blood tests. These blood tests help monitor the baby's lysine levels and overall health.

In our daughter Shelby's case, we go to her doctor's office in Boston every few weeks for a new blood test. Even though we are doing everything we can to keep Shelby healthy and safe, after 6 months we have already had 4 overnight stays in the hospital. We have received over $16000 dollars in medical bills for her medical food that we need to pay for. Although we are grateful for everything the insurance has covered (which is over $110,000- not including medical bills our family already paid), the $15000 for her medical formula is still a lot of money for our family.

PROBLEMS WE HAVE RUN INTO:

Shelby needs a special protein free formula to survive. It gives her the necessary calories to grow, but has removed all of the amino acids her body cannot break down. She will need this formula for the rest of her life. The medical food company is considered an ‘Out-Of-Network' charge, and our health insurance has refused to pay for her medical formula. We have appealed all of these claims multiple times but they still are denying the claims. Massachusetts does not list Glutaric Acidemia Type-1 as a disability, so we do not qualify for a lot of assistance programs. Massachusetts DOES list Glutaric Acidemia Type-2 (another faulty enzyme and fatty-acid deficiency) as a disability, though.

All babies need their vaccines- Shelby has gone to the emergency room after all of her vaccines so far- and we expect this will continue to happen every time she gets them.

We ran into challenges with our plans on going back to work. Shelby's compromised immune system and strict feeding schedule makes her a very challenging candidate for daycare and school. Daycares, schools, and afterschool programs put her at high risk to get sick. Avoiding a fever is so critical to her success. My husband and I work opposite schedules, I have only gone back to work part time because Shelby's specialized feeding schedule and physical limitations are not conducive for daycares and schools.

*Shelby's Feeding Schedule:

-Shelby needs to eat every three hours. EVEN THROUGH THE NIGHT.

-Her feedings alternate between an intact protein formula and a protein free formula.

-In a 24 hour period, Shelby must consume 12 ounces of intact protein, and 16 ounces of protein free formula. These must be tracked throughout the day- which is difficult with a baby because they dont always want to eat when they need to. Her feeding schedule takes very careful planning every day.

-Three times a day Shelby needs a liquid dose of L-carnatine, given orally.

If she strays from this schedule, she can go into a metabolic crisis.

Please consider making a donation to help Shelby get the best care she can get. If you can't donate, we would still be so thankful if you shared this fundraiser to help Shelby and raise awareness for all babies with GA-1 and other metabolic diseases.

THANK YOU <3