Javascript is not enabled! Please turn on Javascript to use this site.
Tanya's Journey

Tanya's Journey

Personal message

__Update from Annatjie___


As you all know your oldest daughter Tanya (18) was diagnosed with end-stage renal failure, abnormal liver function, an enlarged spleen (which was later removed) as well as very high cholesterol levels in June 2018.  Her doctors (including a nephrologist, haematologist and endocrinologist) failed to find a possible cause for her condition and earlier this year we were advised to do genetic tests – which for her specific presentation and the tests required could only be done overseas.

We turned to crowdfunding to assist with the cost and set our target in line with the quotations we received. We were absolutely blown away by the amazing response and were very blessed to receive donations in excess of our target.  The tests results were received back a few months later and unfortunately gave us only some indication of a possible cause;  Tanya tested positive for NPHP3 on 1 allele – which would make her a carrier but all her symptoms are almost exactly that of Nephronophthisis.

Because preliminary tests also indicated that our youngest daughter, Mia (12) also had abnormal results we also did a NPHP genetic panel tests on her via the same lab in the USA. Mia also tested positive for NPHP3 on 1 allele and she also has an unknown variant of NPHP4.

However  it was confirmed with local and international specialist that there is currently no way to tests if the  other copy of NPHP3 is functional so we will not be doing any more  genetic tests.

Tanya is currently on the transplant list and Paul was positively identified as a suitable donor for her and we hope to have her transplant done in Nov but is currently awaiting confirmation of the final date from the transplant unit.

In the interim Tanya remains dependant on dialysis 3 times a week and we are currently driving approximately 100km 3 x a week to get her to the dialysis depot at Alberlito Hospital in Ballito. Friends have generously offered us their house in Ballito from next week as they will be living in Pretoria until December so the driving will be less for this time.

Mia is also still seeing a pediatric nephrologist every 3 months and her ongoing tests and consultations are covered out of pocket as she is not registered on our medical aid for a chronic condition. 

While we can manage the cost of living, our kids’ other medical expenses and specialist and hospital co-pays are not always covered in full and remains an ongoing expense. This update is therefore to once again convey our sincerest gratitude for your kind assistance and also update you all on the fact that based on the feedback we received from geneticist involved in our case we won't be able to continue with further genetic testing on the girls and the available Backabuddy funds will be utilised for the kids’ ongoing medical expenses.

You are welcome to follow our journey on Tanya’s Facebook page; https://www.facebook.com/Tanyas-journey-life-with-a-rare-disease-749726092069825/

Warm regards

The Nel Family

_____________________

Life as we knew it came to a complete standstill in June 2018 when our 17y old daughter Tanya was diagnosed end-stage renal failure, dangerously high cholesterol levels, abnormal liver functions and an enlarged spleen and liver. After 2 long hospital admissions, numerous investigations (including a kidney, liver and bone marrow biopsies and a diagnostic splenectomy) the specialists were able to narrow it down to either mitochondrial disease or inborn error of metabolism, both rare and without a known cure.

Unfortunately tests indicate our youngest Mia (11), may also be affected so we are desperate for answers. Tanya needs a kidney transplant but we first need answers. This silent enemy is slowly taking its toll on our beautiful girl, her weight has dropped to a mere 46kg, and she is dependent on dialysis 3 x a week and also developed an irregular heartbeat and now also need a cardiac procedure.  To find out exactly what is wrong with Tanya we need to do expensive genetic tests which is not available in RSA.

The Panel metabolic gene screen is approximately R7 000 and the Tri-Exome sequencing is approximately R35 000.00. These tests are done in the USA and therefore cost may vary depending on the exchange rate.  Mia may also need to be tested so we are facing quite a significant financial burden.

We do have a medical aid but overseas genetic tests are not covered and our aim with this campaign is to raise funds for the overseas genetic testing.

Donations

  • Aug 29, 2019 - R 51.00
  • "Dis nie baie nie maar ek hoop elke bietjie help...sterkte Tanya en familie" - Marlette

  • Jul 30, 2019 - R 51.00
  • "Dis nie baie nie maar ek hoop elke bietjie help...sterkte Tanya en familie" - Marlette

  • Jun 29, 2019 - R 51.00
  • "Dis nie baie nie maar ek hoop elke bietjie help...sterkte Tanya en familie" - Marlette

  • May 02, 2019 - R 514.10
  • "Ek bid dat julle antwoorde sal vind en 'n oplossing." - Reana van Zyl

  • May 02, 2019 - R 51.41
  • "Dis nie baie nie maar ek hoop elke bietjie help...sterkte Tanya en familie" - Marlette

  • Apr 01, 2019 - R 51.41
  • "Dis nie baie nie maar ek hoop elke bietjie help...sterkte Tanya en familie" - Marlette

  • Apr 01, 2019 - R 514.10
  • "Ek bid dat julle antwoorde sal vind en 'n oplossing." - Reana van Zyl

  • Apr 01, 2019 - R 102.82
  • "Praying for your recovery" - Melinta

  • Feb 27, 2019 - R 102.82
  • "Praying for your recovery" - Melinta

  • Feb 27, 2019 - R 514.10
  • "Ek bid dat julle antwoorde sal vind en 'n oplossing." - Reana van Zyl

  • Feb 27, 2019 - R 51.41
  • "Dis nie baie nie maar ek hoop elke bietjie help...sterkte Tanya en familie" - Marlette

  • Feb 07, 2019 - R 1 015.00
  • "Mag die Here jou styf vashou xxx" - Brewers

  • Jan 30, 2019 - R 510.00
  • "Hou aan glo!" - Iemand wat omgee

  • Jan 30, 2019 - USD $ 999.33
  • "Get well soon." - Jean

  • Jan 29, 2019 - R 20 010.00
  • "Blessings " - Ena

  • Jan 29, 2019 - R 103.00
  • "Praying for your recovery" - Melinta

  • Jan 29, 2019 - R 514.00
  • "Ek bid dat julle antwoorde sal vind en 'n oplossing." - Reana van Zyl

  • Jan 29, 2019 - R 51.00
  • "Dis nie baie nie maar ek hoop elke bietjie help...sterkte Tanya en familie" - Marlette

  • Jan 28, 2019 - R 1 000.00
  • "Praying for wisdom for the doctors and full recovery " - Love from Austrailia

  • Jan 27, 2019 - R 2 056.40
  • "Keep fighting, keep smiling" - Anon

  • Jan 22, 2019 - R 1 510.00
  • "We are praying for a diagnosis and for you to be well." - jan kemp nel&elizabeth;

  • Jan 21, 2019 - R 2 570.50
  • "Die Here is altyd by julle, moenie ophou Om God te vertrou nie. Mag Sy Naam verheerlik word deur julle krisis.. " - Cloete familie

  • Jan 18, 2019 - USD $ 76.82
  • "Pulling for Tanya and family from some friends in the US." - Anonymous

  • Jan 17, 2019 - R 350.00
  • "Wish you strength and courage sending all the angels to make you strong" - Joceline

  • Jan 17, 2019 - R 203.00
  • "Your strength, courage and faith is inspiring" - Rebecca

  • Jan 17, 2019 - USD $ 105.20
  • "In you, Lord my God, I put my trust. " - Anonymous

  • Jan 16, 2019 - R 514.10
  • "Ons God is so sterk en so magtig, daar is niks wat ons God nie kan doen" - Susan

  • Jan 16, 2019 - R 205.64
  • "You are strong Tanya, you'll get through this. I know " - Ashton Chetty

  • Jan 15, 2019 - R 1 015.00
  • "Praying for your recovery " - Anonymous

  • Jan 15, 2019 - R 5 141.00
  • "PS103 1: Bless the Lord O my soul: and all that is within me, bless his holy name 3: Who forgiveth all thine iniquities;who healeth all thy diseases" - Chris de Wit

  • Jan 15, 2019 - R 2 056.40
  • "Die Here is met julle elke tree van hierdie reis!!!!" - Anon

  • Jan 15, 2019 - R 205.64
  • "Strength and love" - Anon

  • Jan 15, 2019 - R 210.00
  • "Tanya. Wishing you God's Grace" - Anon

  • Jan 14, 2019 - R 5 141.00
  • "In Christ we Trust" - Anonymous

  • Jan 14, 2019 - R 410.00
  • "Lots of love and prayers " - Phil and Muffy

  • Jan 13, 2019 - R 507.50
  • "Blessings sweet child" - Jehco

  • Jan 13, 2019 - R 1 015.00
  • "Isaiah 43:19" - Anon

  • Jan 12, 2019 - R 507.50
  • "Sterkte" - Marion

  • Jan 12, 2019 - USD $ 38.02
  • "Bly net glo" - Vriendin

  • Jan 12, 2019 - USD $ 52.60
  • "I pray God's Grace upon your life Tanya " - Anon

  • Jan 12, 2019 - R 2 056.40
  • "Liefde en seenwense aan julle Nelle. " - Esme

  • Jan 11, 2019 - R 1 028.20
  • "Hou moed!" - Thomas

  • Jan 11, 2019 - R 102.82
  • "Good luck" - Gavin Beckley

  • Jan 11, 2019 - R 514.10
  • "We are praying for your family" - Sharon & Beau

  • Jan 11, 2019 - USD $ 75.87
  • "Ons hou aan glo in God se goedheid. Lief julle." - NZ Louws

  • Jan 11, 2019 - R 5 010.00
  • "Psalm 46 God is our refuge and strength, a very present help in trouble." - Anonymous

  • Jan 11, 2019 - R 60.00
  • "Love and prayers go out to you" - Anonymous

  • Jan 11, 2019 - R 507.50
  • "Sterkte Tanya! " - Anonymous

  • Jan 11, 2019 - USD $ 22.77
  • "Good luck with the road ahead." - CJ

  • Jan 11, 2019 - USD $ 379.35
  • "Sterkte en Liefde" - Karl Mariette Kylie en christopher

  • Jan 11, 2019 - R 514.10
  • "Hope that you get the answers you need soon" - Van den Bergs

  • Jan 11, 2019 - R 1 028.20
  • "We pray God heals Tanya and little Mia." - Panagiotopoulos Family

  • Jan 10, 2019 - R 5 010.00
  • "Lief julle tonne!" - Die Nelspruiters

  • Jan 10, 2019 - R 205.64
  • "We hope that you will find those answers you are looking for." - Nina Madsen

  • Jan 10, 2019 - R 2 570.50
  • "You got this, girl! Dont ever stop losing hope, keep fighting. We are all praying for you so much, beautiful. Lots and lots of love xoxoxo" - Dhiya Maharaj

  • Jan 10, 2019 - R 205.64
  • "Hope you get well soon" - Trevor

  • Jan 10, 2019 - R 205.64
  • "Keep fighting" - Anonymous

  • Jan 10, 2019 - R 200.00
  • "Sending you all the love and prayers to you. xx" - Anonymous

  • Jan 10, 2019 - USD $ 15.19
  • "Love and prayer to all of you xo " - Saleena

  • Jan 10, 2019 - R 500.00
  • "Stay strong and be brave Tanya..praying for a quick diagnosis and recovery!" - Anon

  • Jan 10, 2019 - R 102.82
  • "Praying for your recovery" - Melinta

  • Jan 10, 2019 - R 1 028.20
  • "X" - Anonymous

  • Jan 10, 2019 - R 1 010.00
  • "Tanya you are continuously in our prayers " - Sue Grobbelaar

  • Jan 10, 2019 - R 308.46
  • "Our prayers are with you all the way!" - Zelda

  • Jan 10, 2019 - R 205.64
  • "Tanya...this little donation will take you a long way... You have the strongest mummy to support you all the way!" - Anonymous

  • Jan 10, 2019 - R 51.41
  • "Dis nie baie nie maar ek hoop elke bietjie help...sterkte Tanya en familie" - Marlette

  • Jan 10, 2019 - R 514.10
  • "Ek bid dat julle antwoorde sal vind en 'n oplossing." - Reana van Zyl

  • Jan 10, 2019 - R 1 028.20
  • "Liefde is 'n werkwoord " - Evlyn

Statistics

Donations to date

R 97 027.73

Fundraising target

R 50 000.00