Alicia
This is a personal story shared by a family whose child was diagnosed with Glutaric Acidemia Type II (GA2) at the age of two. Recently, Fall 2005, this diagnosis was changed to Glutaric Aciduria Type I (GA1).
On May 25, 2005, Alicia will turn 18 years old - An absolute miracle! You see, Ali was born on May 25, 1987 in Victoria, BC CANADA, at which time there was no Newborn Screening (NBS) for rare metabolic diseases. At first the prognosis was not good - she may live only until age 2, then age 3, then age 8, then age 13, then not past childhood.... Here is Alicia's story: When Ali was 7 months old she came down with a flu / ear infection for which she was given antibiotics. She slept most of the day and was a clingy sick baby - vomiting when awake. Later in the evening Alicia seizured, (shaking with eyes rolling back). We (Bill and I) did not know what was happening - so we took her to the local clinic - they called an ambulance for Alicia and she was taken to Victoria General Hospital (VGH) still seizuring. Thank goodness my Mom and Dad were visiting and were able to care for our oldest daughter Celia (5 yrs). This is when the nightmare began for our poor little baby. The hospital tested for everything under the sun, including Meningitis, Reye's syndrome. Ali was admitted to ICU and poked and tested more extensively. It was Christmas, so a different doctor was on the scene every day and all the tests came back normal. We knew our baby was very sick - her body was floppy like a rag doll. She lost her suck reflex and could not even hold up her head - she had lost all motor skills. At this point Ali had a couple of more seizures - after 10 days of no results or answers we decided to discharge Alicia and have her admitted to BC Children's Hospital (BCCH) in Vancouver. BCCH noticed Alicia was not able to swallow properly so they started a nasal gastric tube for feeding. Ali was retested for "everything" with normal results. We were at our wits end - not knowing what to do next. Our stay continued for another couple of months at which time the metabolic team visited and suggested that Ali may have a metabolic disease (but probably not - because it is very rare). Glutaric Acid showed up in Ali's urine - and the metabolic team sent a skin biopsy for confirmation of the specific disease. We were told to keep Ali healthy and nourished every couple of hours - which you all know is very stressful and impossible when the vomiting won't stop. The neurological doctor explained that Ali suffered brain damage and will be "like this" forever. We did not know what he meant by "like this". At last we were able to bring our baby girl home - but she was much different than the baby we once knew. It was very difficult getting through each day with continual vomiting, crying all night, stiff body and seemingly in pain, unable to swallow - tube feedings through the night along with medications. Yet, with all the trauma - Ali was still able to laugh at her Sister Celia's antics - such a joy to see Ali laugh. At age 2 Ali's diagnosis was confirmed as Glutaric Acidemia II (GA2). Riboflavin and Carnitene were started along with the low protein formula. The Metabolic doctor explained GA2 to be a very rare Metabolic Disease (only 3 documented cases in the world at this time). Prognosis was not good - colds/flus and Chicken Pox could be detrimental to her health - she must keep well nourished at all times. YIKES! Ali developed ulcers in her oesophagus due to reflux and underwent 2 surgeries to prevent her from vomiting anymore - she has never vomited again - just gags. She also had surgery for placement of a G-Button. She started with the Infant Development Program where she received all therapies - Physiotherapy, Occupational Therapy and Speech. We always wondered if Ali would ever walk or talk - time would tell. My days were consumed with doctors, Specialists, Orthodics, Wheelchair Fittings, etc. and many hospital admissions. Mom and Dad moved to Victoria to help care for Celia whenever we were called away to the hospital. By this time we were burnt out - I could barely lift my arms. We finally had to admit to ourselves that we could no longer fully care for Ali by ourselves ... something that no Mother and Father should ever have to deal with .... So a full-time bed was allocated to Ali at the Queen Alexander Hospital for Children with Disabilities. We hated leaving her behind, but it was the only way to survive at this time. We were able to bring her home every other day/night. Our family suffered the affects of caring for a child with a severe medical condition and severe disabilities. Financially we were devastated, as it was a full-time job looking after Ali (I could not work) - the extra medical costs were very high. Alicia's sister, Celia (5 yrs and unaffected), was always put on the back burner. Our marriage broke up for 2 years, but we were able to get through and reunite again. When Alicia was 4 years old, we decided to look into a new program called the "Associate Family Program" - this was an initiative to train caregivers to look after children who are severely disabled in their home. The philosophy of the Program is to Co-Parent, with the Natural Parents still being the legal guardians. The First Family did not work out - they did not understand that Ali is a full-time job. We had extensive criteria for the Second Family - which turned out to be Ann and Les Smith - they are "God Sent". Ali loves them and gets the best of both worlds - two families who love her to death with lots of extended family to love her as well! This enabled me to go back to work and ease our financial load. This also gave us time and energy for the rest of the family - very important. The program has provided for a Wispa Lift system in both homes, and all medical supplies are fully paid for. Both families have purchased Vans equipped to transport Ali with her wheelchair. Ali was integrated into the public school system in Kindergarten and has continued throughout the years and is now in Grade 12 with the help of a full-time Teachers' Aide. Bill worked as a Teachers' Aid so that he could research which schools were best for Ali. She works on her communication skills daily. She loves art work, swimming, bowling, sewing, cooking, baseball (all hand over hand). Alicia loves food and eats everything we eat, wrapped in gauze (just for the flavour). Today, Ali is an amazing beautiful young lady of 17 years! She has a wonderful sense of humour and can make you laugh so hard that tears stream down both of your faces. She lives with Ann & Les during the week and comes home on weekends, holidays and a couple of weeks in the summer. She loves to spend time with Friends and Family - especially her sister Celia (now 21) and her nephews Tyson (4) and Brayden (8 months) - both had NBS at birth and are unaffected. Today Ali is severely disabled:
We are very lucky that Ali survived her metabolic crisis at 7 months of age - although she paid a very high price for her life. It turns out Ali will never walk or talk, but she is a very happy person and makes the best of what she has. Sometimes her wittiness blows us away (Ali understands EVERYTHING and has an extreme sense of humour). Recently, Fall 2005, Ali's diagnosis was changed to Glutaric Aciduria I (GA1). We wish with all our heart that NBS was mandatory in Canada. This metabolic disease is easily detected now and managed well through diet and meds - mandatory testing would prevent this kind of damage, (or death) happening to other innocent children needlessly. Sharon and Bill Manz (Carriers) Parents to Alicia (17 yrs) GA2 Parents to Celia (21 yrs) Unaffected Grandparents to Tyson (4 yrs) Brayden (8 months) Unaffected Victoria, British Columbia |
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