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Liam L024

Family Rutherford – Liam Rutherford Glycogen Storage Disease Type 1b

 

My name is Elmarie. I am a very proud mother of 2 teenage daughters (Zoe 14, Aimee 12), a beautiful “Angel” called Nina, and Liam, but I refer to myself as Liam’s mom…that’s who I am, that’s my identity.

 

Nina, our “Angel”, was born on 4 May 2012. We did not know it at the time, but she was born with Edward Syndrome (Trisomy 18 – a very rare Genetic Disorder, categorised as being incompatible with life). The time with her was so precious, but she was called to Heaven on 11 October 2012. We had 5 months and 7 days in which we made the most beautiful memories.  …then came Liam…

 

We were over the moon when we held him in our arms and fell in love instantly. He grew up quickly and really light up our lives. Liam appears to be a very healthy 4-year-old. He is active, very intelligent, and he learns so quickly. We were shattered though when we found out that he has a rare genetic disease.

 

Our rare disease journey started when my husband and I had taken Liam to the doctor for a very bad nappy rash we just couldn’t get rid of. The GP noticed Liam’s extended abdomen and immediately showed concern. After checking, the GP confirmed that Liam’s liver is extended by about 8 cm (I honestly thought that Liam had a big belly because he loved food so much).

 

We were send for blood tests the same day (Friday) and were informed that evening that Liam’s liver function is not what is supposed to be. We were admitted to Tzaneen Mediclinic on the Monday morning. Blood tests were done, MRI, X-rays, Sonar, you name it.

 

After some results, Dr Maredi contacted Dr Celeste Kock in Midstream Mediclinic to take Liam as a patient. We were transported to Pretoria via Ambulance the next morning and met with medical staff as soon as we were admitted. A liver biopsy was done on the Wednesday. Liam was poked and tested and tried for a whole week.

The results of the liver biopsy confirmed Glycogen Storage Disease (GSD), but in order for us to get recognised by the medical and have some sort of treatment plan, we had to have genetic testing done to determine what type GSD Liam had.  Because genetic testing for GSD (for South Africans) are done in Austria, the cost relating to that was very high. We had to travel to Pretoria, have 4 tubes blood drawn, and drive back to Phalaborwa because the doctor did not want the quality of the blood compromised in any way. Tests for GSD type 3, 4 and 5 were requested in November 2017.

 

In March 2018, we received the negative results for the requested tests. After hours of research and eliminating symptoms, I requested Liam blood to be tested for type 0, 1 and 6. We received positive results in May 2018. Liam has GSD Type 1b.  (At this point, we had spent all our savings savings for a deposit on a house of our own…which we haven’t been able to purchase because of this) on trips to Pretoria and the Genetic testing.)

 

Glycogen storage disease 1b has no cure. It is managed by eating a strict LOW GI diet which isn’t always easy, being 4 years old. Liam is on Chronic medication to try and eliminate possible complications. He is very prone to infections, whether it is chest infections or UTI and even skin infections from mosquito bites. Liam does not eat well. His teeth are in a bad condition. His immune system is severely compromised. He suffers from severe Hypoglycaemia.

 

Liam had a PEG placed in his abdomen to enable continuous night feeds. The PEG will be replaced with a Mic-Key on 14 March 2019.

 

With the PEG in place and the Mic-Key “on its way”, we are facing many challenges personally, financially, emotionally (the girls), and space wise.

 

The Medical has declined requests to cover medical equipment, like the line sets for the pump, the HydroBags for the formula, the formula itself (Glucerna SF 400g – almost a tin per day).

 

Liam really need to be seen to by a dentist. Unfortunately, dentists are not covered by our Medical Aid and we don’t have saving to fall back on either. My husband (James – really the most wonderful man that walks this earth) and myself are Teachers at the same school. We are also both studying to get our qualification as teachers. I will be done at end April, but hubby has another 2 years to go. We pay for this monthly, but we actually skipped the payment at end January.

 

We’re living in a lovely house which we are renting, but which is really too small. Having only 3 Bedrooms and 3 children of which one is a special needs child with pump alarms gong off a few times during the night and 2 teenage daughters wanting and really deserving to have their own bedrooms. Liam sleeps on a toddler bed in the main bedroom (not the ideal situation at all).

 

Basic needs, like clothing for children and ourselves takes a backseat and we are relying on “hand me downs” that come our way every now and then. Our Vehicle is not a new one and is taking strain with all the Pretoria trips and really need to have a proper service and brakes checked. This is very important, but there just isn’t money for that.

 

This is our story in a nutshell, and just some of our needs.

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