Elyarra's journey with Alagille sy

My name is Elizabeth Judd

 I’m the mother of our darling  girl Elyarra joly

 Myself and my partner Gilles have been struggling to keep up with the finances and emotional journey since our little girl has been born.

 I am a stay at home mother for Elyarra.

 She has many medical needs that make it impossible for me to go back to work. Gilles my partner is working part time with the city and doing side jobs as much as possible to keep up with everything. 

 This is our journey with our little girl and her struggle with Alagille syndrome.

 

Elyarra was born Sep 26th 2012 soon after she was born after many trips to the hospital not knowing what was going on.  We were sent to Cheo Ottawa's sick kids. After 2 weeks of testing she was diagnosed with Alagille Syndrome.

Alagille syndrome is a genetic disorder that can affect the liver, heart, and other parts of the body. One of the major features of Alagille syndrome is liver damage caused by abnormalities in the bile ducts. These ducts carry bile (which helps to digest fats) from the liver to the gallbladder and small intestine. In Alagille syndrome, the bile ducts may be narrow, malformed, and reduced in number (bile duct paucity). As a result, bile builds up in the liver and causes’ scarring that prevents the liver from working properly to eliminate wastes from the bloodstream. Signs and symptoms arising from liver damage in Alagille syndrome may include a yellowish tinge in the skin and the whites of the eyes (jaundice), itchy skin, and deposits of cholesterol in the skin).

Alagille syndrome is also associated with several heart problems, including impaired blood flow from the heart into the lungs (pulmonic stenosis). Pulmonic stenosis may occur along with a hole between the two lower chambers of the heart (ventricular septal defect) and other heart abnormalities. This combination of heart defects is called tetralogy of Fallout.

People with Alagille syndrome may have distinctive facial features including a broad, prominent forehead; deep-set eyes; and a small, pointed chin. The disorder may also affect the blood vessels within the brain and spinal cord (central nervous system) and the kidneys. Affected individuals may have an unusual butterfly shape of the bones of the spinal column (vertebrae) that can be seen in an x-ray.

Problems associated with Alagille syndrome generally become evident in infancy or early childhood. The severity of the disorder varies among affected individuals, even within the same family. Symptoms range from so mild as to go unnoticed to severe heart and/or liver disease requiring transplantation.

Some people with Alagille syndrome may have isolated signs of the disorder, such as a heart defect like tetralogy of Fallout, or a characteristic facial appearance. These individuals do not have liver disease or other features typical of the disorder. How common is Alagille syndrome?

How common is Alagille syndrome?

The estimated prevalence of Alagille syndrome is 1 in 70,000 newborns. This figure is based on diagnoses of liver disease in infants, and may be an underestimation because some people with Alagille syndrome do not develop liver disease during infancy.

 Seeing our daughter trying her hardest and nothing staying down she was going for test after test to figure out what was the best plan was for the future this was very hard. She had a liver biopsy and now has a Feeding tube called a Micky... because it's very hard for her to put on weight. We she is on a specialised formula for her to put on weight.   She eats s very little by mouth. At this time

 We go to (cheo as well as Toronto sick kids regularly fir check up on her heart liver and other organs that are affected by Alagille.

She is now 2 and half years old

We live about 30 min from Sudbury Ontario in a small town of Chelmsford Ontario

And her mother (Elizabeth) does not drive. So we have to rely on the bus or find a ride in to go to her doctor appointments and pay for gas, Gilles is working as much as he can with the old van that he is able to use to go back and forth to work.

She goes to Physiotherapy, occupational therapy and speech therapy weekly at the children’s treatment center. She is not walking nor crawling yet. She is slowly working on it.

We get some funding with disability and that helps but is doesn’t cover "some" of the things she needs in her day to day life. Such as  her vitamins - some have to be brought in from the U.S.A and  we never know if there will be a back order on her vitamins and meds that she needs daily, in order  for her  be at least comfortable.

 The costs of her medical supplies and medications monthly is $2000

Not including trips to the doctor. Rent and food for Gilles and myself.

 

 January she went in for a surgery for external bile duct drainage. To hopefully help her quality of life and reduce her  xanthomas only 2 months later we went to Ottawa Cheo for a routine checkup  and was told her  xanthomas are worse and were told we need to put her on the liver transplant list as soon as possible. So we got on the grey hound and went to Toronto sick kids,

 There she went through a number of tests over a week’s time.

 We were discharged and were told in a time frame of 2 weeks we would get the results of the testing and if she was a candidate for the liver transplant list.

A week and a half later we got the call. Saying we are able to start sending in the information provided for a live donner.

 The waiting list can be as soon as 3 months to as long as over a year!

 We were told to have our bags packed and ready to go in case a donner is a (right match) and we need to rush to Toronto.

Once she is given the gift of a new liver this does not Cure Alagille syndrome.

 She will be closely watched by doctors and be on medication her whole life. She will continue to be using the feeding tube in till her feeding intake gets better. Her medical need will continue.

 We are in need of help of our community to help us with this journey.

My beautiful daughter needs her medical supplies.  We are hoping that the community hares our plea for help and take it upon themselves to help our dear Elyarra and our family through this difficult time.

every little bit appreciated
we are asking for YOUR help
please help your little girl and our family
thank you