Patient- & family stories


Ons het geleer bid, ons het geleer wat geduld is, en ons het geleer wat dit is om jou kind te waardeer. Die grootste gawe wat jy van die Here kan ontvang. Martinique se mamma

Martinique
Martinique

CDG Type Ic

Watter mamma is nie opgewonde oor haar eerste swangerskap nie en pappa loop breebors rond. “10 Vingers en 10 tone” sê die Narkotiseur met haar geboorte...
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Daniël
Daniël

IVA

Daniël is gebore met 'n dodelike, skaars metaboliese afwyking, isovaleriaansuururie (IVA), en is die eerste Suid-Afrikaner by wie die afwyking gediagnoseer...
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Hudson
Hudson

Propionic acidemia

Hudson is gebore 9 Mei 1998 en is binne 2 dae gediagnoseer met Propioonsuur acidemie met 'n beperkte lewensverwagting. Op ouderdom 7 jaar het sy...
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Hazel
Hazel

Variant PKU

Hazel was diagnosed with Phenylalanine malabsorption at about 18 months to 2 years. Dr. Greg Wiseman, her paediatrician, started all the investigations as he...
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As ek na mense met gebreke kyk as gevolg van die siekte, besef ek hoe dankbaar ek is. Dit laat my ook anders na die lewe kyk.Daniël Rautenbach IVA pasient
Karien
Karien

IVA

In Meimaand 1998, het ek agtergekom ek is swanger. Terwyl ek my ouers gehelp het om vleis te bewerk, wat ek so gereeld gedoen het, het ek skielik siek gevoel....
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Esparanza
Esparanza

Propionic acidemia

This is the story about my little Angel from God. My baby was born on a Thursday morning 9:10 - she was absolutely gorgeous, her doctors checked her out and...
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Ashton
Ashton

X-ALD

Hy is 'n liefdevole seuntjie wat graag sy ouers terg, en vir die miniatuur-worshondtjie Biscuit drukkies gee. Hy sing geestelike liedjies uit volle bors, is mal oor...
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Milandré
Milandré

PKU

Being able to fall pregnant naturally was such a big blessing for me, as our family has a history of endometrioses. I had a very difficult pregnancy struggling...
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Our experience with the life of my little Angel was a hard, but very happy one. I would not exchange what I had with my little girl for anything on earthEsparaza's parents

 

 

Click on the pictures below to view more photos.



In Memory of our Little Angels


Read their stories



Milandré

Being able to fall pregnant naturally was such a big blessing for me, as our family has a history of endometrioses. I had a very difficult pregnancy struggling with pre-eclampsia and extreme back pain due to all the swelling. The normal tests were done (e.g. Down syndrome etc.) and everything was normal. Our first baby was going to be perfect. From 32 weeks I was booked off from work and had to report to our house Doctor every second day for a check-up. Living in a small town with the nearest hospital services being 200 km away from us, the doctor was not taking any chances. I opted to have my baby under the supervision of my gynaecologist in Bloemfontein and to give birth at Medic Clinic Bloemfontein, as it was the closest city to my parents and I wanted them to be able to be there for the birth. I wanted my husband to have family close by as his parents live in Namibia and couldn’t come down for the birth. At 35 weeks I was injected to boost Milandré’s lungs as the doctor was suspecting that I will not be able to go the full term with my blood pressure being too high since it is a too great risk for me and Milandré. Every day I was at the doctor and when he said: “I think we must do a caesarean section earlier.” I was in tears, begging it is too early because she is too small. At 36 weeks I was admitted to hospital to monitor my blood pressure and baby. After about 3 days I could go home, but I was basically on bedrest. At 38 weeks the gynaecologist said that it was time to get Milandré out as it was becoming too big of a risk. I was so scared that she would be too small and her lungs would not be developed properly and it would cause major future health problems.

On 11 August 2014 at 08:00 I was pushed into theatre. I was so scared as this was my first pregnancy, not knowing what to expect. Listening to the hospital staff making jokes like it was just another day in the office and praying all together: “Please God please just let Milandré be OK…” I suddenly heard her crying and I started crying with her. Hearing her cry, I knew she was OK. I saw her briefly, but she was the most beautiful baby girl I’ve ever seen. She was so perfect. Her Apgar score was 10/10. After a while which seemed like hours, she was pushed into my room. We started the feeding process and I was determined to breast feed. We struggled a bit and she was very tired. They measured her sugar and it was a bit low so they gave her feed with a cup at first just to get her going. Eventually we got the hang of it. My baby girl was perfect. I was breast feeding. The horrible nine months was a distant memory and life was perfect. I was a Mommy.

They did all the normal tests as per usual for all newborn babies. One sister came in and told me that the hospital started offering Newborn Screening this year which is performed at the North-West University Potchefstroom’s Newborn screening laboratory. It was some metabolic testing for which they only needed a heel prick sample of Milandré on special filter paper (DBS / Guthrie card). To be honest I was so tired, I did not listen and just wanted her to leave. She asked permission to do this test on Milandré. I just said yes so she would leave and I can get some rest…thank God I said yes! The testing never crossed my mind again, my baby was perfect.

After I was released from hospital we went to visit my parents for a few days before taking the long road trip home, 500 km from Bloemfontein. Milandré was such a good baby and only feeding once at night. I thought how lucky can I be… Then on the day we drove back to our house our lives would change forever. I remember it like it was yesterday. I got a phone call and it was a sister from Bloemfontein. All she said was they picked up something in the tests done on Milandré and more tests were needed to confirm. When I asked her what they picked up she could not answer me. I was so devastated and angry I told her to let someone phone me that knows what is going on. Then our paediatrician phoned me, also not a 100% sure what they picked up, as he had never heard of it before. He requested we do a blood draw as soon as possible. We were half way home so we agreed to do it the following morning at our GP. The next day we were at the doctor for the blood test. The sister attempted to draw blood on Milandre’s hands without success. The Doctor attempted to draw blood from her feet…without success. Needless to say that I was crying harder than Milandré everytime and was eventually told to go and wait outside. I was so angry! How could they do this! For some stupid test! You can see she is perfect! Eventually we were sent to the next town where there was a pathology laboratory. There would be someone professional that can draw blood from a week old baby…so they said… After an hour’s struggle and more holes in my child hands and feet and neck they got the blood they needed. I was crying all the way home. I felt so helpless. I’m supposed to protect her. The blood was send to PLIEM laboratory in Potchefstroom (laboratory where the confirming analysis is done) as the first tests were done at the Newborn Screening laboratory also situated in Potchefstroom. Milandré was diagnosed with Phenylketonuria (PKU) two weeks after birth. We had just finished our two week baby photoshoot when I got the phone call from the paediatrician. We were to be in Bloemfontein the following day to discuss the results. I felt like I was caught in a nightmare. I wanted to do the tests again as there had to be some mistake. My daughter could not have some kind of disease.

The following day we were in the paediatrician’s office in Bloemfontein. Not knowing at all what PKU was, we sat there waiting in anticipation. Unfortunately our paediatrician knew just as little about PKU as we did. Before Milandré’s diagnosis he had never heard of it before. He talked to Prof Chris Vorster from PLIEM and NBS laboratory that had done the tests to find out what this disease was and how it can be treated. Milandré was the youngest child diagnosed in South Africa. We were stunned, we just sat there staring at him when he told me I need to stop breast feeding immediately and she can never have protein and she can become disabled if we don’t follow the guidelines for her special diet for PKU patients. She will have to take a special milk formula for babies with PKU. My whole world came crashing down that day. My perfect baby can become disabled…

After Milandré was diagnosed, it was an uphill battle. We struggled for almost a month to get her special milk formula into the country, since it had to be imported from overseas. Prof Chris Vorster gave our paediatrician the number of the metabolic specialist dietician, Dr Tuschka Reynders, who is familiar with PKU and the dietary needs and intervention. I thank God every day we were fortunate enough to meet her. Without her our baby girl would definitely not have been so healthy today. She helped us get a formula we could use while waiting for the right one and she adjusted the amounts for Milandré’s age. My peaceful baby went from being an angel to being a complete nightmare in one day. She was not getting full from the milk, she was crying the whole time, and she was getting cramps from the new milk. She went from feeding only once a night to 4 times. We had to do blood testing every week to monitor phenylalanine levels. One day our paediatrician phoned us. Her levels were over 1300 µmol/L and for a PKU patient under treatment, the value should be below 400. This elevated level could therefore cause brain damage. We had to get her to hospital as soon as possible. Immediately I was angry, because I knew this meant a whole lot of tests again. We had to drive all the way to Bloemfontein again getting there at night. To our surprise our paediatrician was not working the weekend. I felt like I was going to have a heart attack. They wanted to admit her and I wanted to know why and what the purpose would be for the admission to hospital. I had done my research in the meantime, so I knew only diet can manage the levels so why does she need to be admitted? Eventually we were told they want to take her milk completely away and put her on a drip only. I thought these people were insane… I refused. How can you not give a baby milk? The doctor on call came and we had to explain to him what PKU was. Eventually we got him to realise that admitting her won’t make a difference. The test results they received were just after we were discharged from hospital so we needed to get the newest results to see the change in the levels. After four hours of fighting and getting a drip for no reason at all – which was also three holes again – we could go home. I was so angry I felt like suing someone…

With the help from Tuschka we got Milandré’s levels down to below 400 µmol/L in a month’s time. Today Milandré is a healthy girl, full of life and smiles. She is reaching her milestones so far all in perfect time. She is at day care during the day and loves it. We are still struggling to get her levels to stabilise. Teething is playing a big role in the spikes, as well as tonsillitis. Having a child with PKU is a daily struggle: from having to plan everything perfectly to accommodate her and her meals to having to explain to other Mom’s at day care what she can eat at their kid’s party. Milandre is getting to the age where she now wants to eat what you eat so the struggle is getting tougher. Every time she starts teething or gets sick her levels spike, since illness has an influence on the metabolism, especially in a person with an inborn error of metabolism (Milandré’s case: PKU). There are so few people who know what PKU is that even taking her to the doctor is a battle as they have prescribed medicine in the past that has protein in. If there is just more awareness of PKU in South Africa there would be less pain and suffering like our hospital episode, not even mentioning the financial implication of all the tests and specialised milk formula that she will have to take for the rest of her life.

I don’t believe in luck. I believe in God. And till today I believe it was God who gave us guidance to do the birth at Medic Clinic Bloemfontein. Had it been in any other hospital, Newborn Screening would not have been done and I would be writing a very different story. We are so blessed to have picked it up so soon. I pray to God we can keep her healthy.

 

Martinique

Dokter :“Wil julle toets vir Down sindroom?”
Ons : “Nee, Dokter. Maak nie saak of hierdie kind gestremd is of nie.
Ons sal nie die swangerskap beeïndig nie. Dit maak nie ‘n verskil vir ons nie.”

Watter mamma is nie opgewonde oor haar eerste swangerskap nie en pappa loop breebors rond. “10 Vingers en 10 tone” sê die narkotiseur met haar geboorte. Die APGAR telling 9 en toe 10. Sy gaan nie eers broeikas toe nie. Sommer reguit saam met mamma kamer toe.

Op 5 maande vertel die arbeidsterapeut vir ons ons kind se ontwikkeling is 2 maande agter. Haar nekkie wil nie styf nie. Op 6 maande, presies 6 maande, haar eerste epileptiese aanval. Vier uur in die oggend, terwyl sy drink. Sy staar dan net op een plek...? Het ek reg gesien? Wat was dit? Drie dae later weer en toe kon ons duidelik sien dat iets snaaks met haar gebeur. Ogies kyk elkeen in sy eie rigting.

Pediater toe. Ons gaan nie een werk toe nie en toe het die dinge begin…

‘n Verdere 12+ aanvalle vir die dag.

“lumbar puncture” - niks fout nie.
Breinskanderings - niks fout nie.
EEG - niks word opgetel nie.

En 5 dae later is ons op pad na Unitas hospitaal in Centurion. Ons word verwys na Dr Michael Lippert, pediatriese neuroloog. Ons nuwe beste vriend, wat vir ons die diagnose moes gee.

Bloedtoetse word gedoen. Baie intensief en baie mense werk laat aande om ‘n diagnose so gou moontlik te kan maak ten einde die epilepsie onder beheer te kry. Elke dag aanvalle. Ogies geswel en dieregeluide… “Suster, is daar breinskade?” vra ek. Sy het my aangekyk en gesê: “Wat wil jy hê moet ek vir jou sê…”

Martinique word gediagnoseer met CDG, tipe 1c - wat met verdere ondersoeke bevestig word. Die oggend van die diagnose kry ons gefotostateerde papiere in die Paeds ICU wat ons solank kan lees. Grootste mediese terme wat vir ons niks beteken nie. Wat ons wel kon verstaan was die deel wat gelees het “patients are wheelchair bounded”, maar ons steur ons nie daaraan nie, want dit sal nie met ons gebeur nie. Almal se woorde: vir God is niks onmoontlik nie. Sy kan genees word. En ja, ek weet vir God is niks onmoontlik nie, maar die realiteit bly die realiteit en sou sy dan genees word, is dit net ‘n bonus, maar vir nou moet ons hanteer wat op ons pad gebring is.

Sy sal nie loop nie. Sy sal nie praat nie en mettertyd doof word. Blind ook. Ons is verpletter. Ek in ‘n hoekie en Johan in ‘n ander hoekie. Ons weet nie hoe om dit te verwerk en wat om daarvan te maak nie.

Die eerste jaar was moeilik. Sy het verskriklik moeilik tande gekry en longontsteking was aan die orde van die dag.

Nou, 5 jaar later, is Martinique ons sonstraal in die huis. Ja, sy kan nie loop nie en praat steeds net brabbel babataal. Maar sy het ‘n glimlag “to die for” en kan darem beweeg as sy op die vloer lê. Sy rol om en dan beweeg sy die hele vloer vol. Sy waardeer haar kossies en huil nooit. Solank daar liefde, kossies en “juice” is, is die wêreld vir haar reg.

Ons dink tog sy kan nog ietsie sien. Sy kyk in jou rigting as jy met haar praat en hoor kan sy verseker nog. Sy identifiseer ons stemme dadelik. Ai, is ‘n mamma se hart darem maar nie bly as haar dogtertjie vir haar lag as sy met haar gesels nie.

Ons het “aandele” in Emfuleni Medi Clinic en ken al die personeel vir Martinique. Ons kry baie goeie diens en sy is so deel van die kindersaal soos die gordyne wat daar hang. Ons plaaslike Pediater, Dr Kazadi Mbamba, is uitstekend en help en ondersteun ons baie.

Longontsteking en faringitis sorg vir al die hospitalisasies. Ongeveer 6 tot 8 keer ‘n jaar. Lastige ou keelinfeksie wat veroorsaak dat sy heeltyd braak en dan dehidreer. As daar koors is, is dit hospitaalsake. Geen orale antibiotika bly in om eers sy werk te doen nie en daar word tot drie soorte antibiotikas binne-aars gebruik om haar longontsteking te behandel.

Ons het geleer bid. Ons het geleer wat geduld is en ons het geleer wat dit is om jou kind te waardeer. Die grootste gawe wat jy van die Here kan ontvang.

En wraggies word ons weer geseën! Martinique kry ‘n sussie en die grootste wonder, SY IS NORMAAL en mal oor haar ousus…ons verruil ousus vir niks en niemand in die wêreld nie.

 

Daniël

“As ek na mense met gebreke kyk as gevolg van die siekte, besef ek hoe dankbaar ek is. Dit laat my ook anders na die lewe kyk.” So sê Daniël Rautenbach (24), wie se lewe pas na geboorte deur biochemici van die Pukkampus van die Noordwes-Universiteit gered is.

Daniël is gebore met 'n dodelike, skaars metaboliese afwyking, isovaleriaansuururie (IVA), en is die eerste Suid-Afrikaner by wie die afwyking gediagnoseer en suksesvol behandel is. Dié siekte het die dood van sy ouer broer (Dewan) kort na geboorte veroorsaak. Daniël is vanjaar besig met sy nagraadse onderwysdiploma, ná hy in 2009 sy BA-graad in geesteswetenskappe ontvang en sy honneurs in politieke studies in 2010 voltooi het. Prof Japie Mienie, hoof van die NWU-Puk se Laboratorium vir Aangebore Metaboliese Defekte by die Sentrum vir Menslike Metabonomika, sê kinders met IVA sterf gewoonlik vroeg na geboorte indien hulle nie behandeling ontvang nie. Hy sê in Daniël se geval was behandeling al bekend en kon hulle vroegtydig daarmee begin. Hy sê 'n geenmutasie lei tot die aangebore metaboliese defek, wat behels dat die aminosuur leusien nie volledig afgebreek word nie, isovaleriaansuur in die bloed opbou en toksies word en die liggaam uiteindelik nie meer suurstof inneem nie.

“Daniël moet lewenslank supplementasie vir optimale detoksifisering gebruik en 'n lae proteïen dieet volg. Die metaboliet, wat sy liggaam nie kan afbreek nie, word deur optimale detoksifisering wateroplosbaar gemaak, sodat dit uitgeskei kan word. Dit stel hom dus in staat om sy siektetoestand optimaal te hanteer en ‘n normale lewe te lei. Mienie sê Daniël is besonder sterk omdat sy liggaam natuurlik hidroksi-isovaleriaansuur (wat spierkrag verhoog) produseer. “'n Mens moenie sommer teen hom armdruk nie, hy sal jou vinnig, vinnig platstoot.” Daniël sê hy is baie lief vir sport en speel graag vlugbal en neem gereeld aan padwedlope saam met sy ouma deel. “Ek het nog altyd gevoel ek moet bo my siektetoestand uitstyg en dat ek almal wat nie geglo het ek kan dinge doen nie, verkeerd sal bewys. My ouers speel 'n groot rol in my lewe en het my gemotiveer om te kom waar ek is.”

Mienie sê dié spesifieke mutasie van die siekte kom net in Suid-Afrika onder Afrikaanse families voor. Die vermoede bestaan dat iemand dit oorspronklik uit Duitsland na RSA gebring het, aangesien mense ook daar met IVA gediagnoseer is. Hy sê die diagnostiese laboratorium is die enigste in Afrika wat die volle spektrum metaboliese toetse kan doen. Hulle toets tot 4 000 kinders per jaar van so ver as Kenia wat simptome van metaboliese siektes toon. Hiervan het hulle sowat tien persent gediagnoseer, waarvan hulle sowat die helfte kon behandel. Mienie sê dit is soms soos 'n wonderwerk om te aanskou hoe vinnig jong kinders herstel as daar met behandelings begin word.

Die Sentrum vir Menslike Metabonomika het tans sowat veertig nagraadse studente wat hulle navorsing in die verskeie laboratoriums van die Sentrum doen. Drie van hierdie laboratoriums is ook diensleweringslaboratoriums, 'n laboratorium vir aangebore metaboliese defekte (AMD), waar Daniël gediagnoseer is, 'n neonatale siftingslaboratorium (NBS) en 'n detoksifiseringslaboratorium. Personeel wat as mediese wetenskaplikes by die HPCSA geregistreer is, is almal gekwalifiseerde biochemici met honneurs-, meesters- en doktersgrade wat hier verwerf is. Die laboratorium vir AMD en NBS Laboratorium is tans albei in die laaste prosesse van voorbereiding om akkreditasie te ontvang.

Kiewiet Scheppel, Mediakantoor NWU-Puk

 

Hudson

Hudson is gebore 9 Mei 1998 en is binne 2 dae gediagnoseer met Propioonsuururie met 'n beperkte lewensverwagting.

Op ouderdom 7 jaar het sy lewenskwaliteit so afgeneem dat ons besluit het om 'n gastrostomie voedingsbuis inplanting te doen.

Vandag (9 Mei 2014) is Hudson 16 jaar oud met baie lewenslus en 'n duidelike voorliefde vir die buitelewe.

Ons wil aan almal wat 'n aandeel het in sy gesondheid en ontwikkeling gehad het, baie baie dankie se.

Groete

Joe en Reinette Klerck

 

Hazel

Hazel’s birth was a difficult one. A vacuum extraction was necessary after she got stuck in the birth canal. Her APGAR score was 1/10 immediately after birth, and 3/10 after 5 minutes. She was kept in ICU for 5 days, with a huge hematoma on top of her head as a result of the vacuum extraction.

Hazel was diagnosed with hyperphenylalaninemia due to a Phenylalanine malabsorption at about 18 months to 2 years. Dr. Greg Wiseman, her pediatrician, started all the investigations as he was worried about her slow development - she only sat at about a year and walked when she was 2 years old. We started Hazel on physiotherapy with Marietta Noel (who was a retired Pediatric Physiotherapist and CNS specialist) when Hazel was 4 and a half months and continued this until she started walking. This was to assist with Hazels low muscle tone, and to take her through her developmental milestones in the correct sequence. Marietta was a great source of info and help during this time. Basically it was through her coaching and mentoring that Hazel walked.

Marietta was concerned that the low muscle tone would result in poor skeletal development, as Hazel’s muscles would not hold her fully upright, and as a result her legs and back would not develop straight. We had to make home-made "leg braces" to ensure her legs were straight. These she wore for 2 to 3 hours a day, and after bathing until bed time every night. All Hazel’s shoes have CNS heels fitted, together with Valgus pads. This is to ensure that her weight is on the outside of her feet for her leg and back development, and that she does not develop “knock knees”. This also helped to ensure that her feet grew straight and she didn’t become “pigeon toed” or have "duck feet".

We did a loading test where blood was drawn and urine samples taken before administrating phenylalanine. Blood and urine samples where collected every 3 hours thereafter for 12 hours in conjunction with close supervision of a clinician. This was when Prof. Mienie detected phenylalanine malabsorption. Dr. Crutchley gave a second opinion after initially doubting the results. Further investigation did however confirm the disorder and prof Mienie indicated that he had never seen this type of result before.

Hazel is in a mainstream school, but she is a year older than the other kids in her class. She has continued with occupational therapy to improve gross and fine motor skills. Again this is to assist with muscle tone, and with general development. She also has remedial lessons for 2 hours a week, to improve her handwriting skills, comprehension, spelling and more, generally to improve her language and reading skills. She will need to improve her mathematics, but the remedial teacher wants to get her language up to scratch first.

Caryss (Hazel’s sister at age 6) has not shown any problems with malabsorption, although she has a slightly low muscle tone. She doesn’t like sweets, biscuits or ice cream, but otherwise she is in a mainstream school, and coping well. Her teacher has picked up that she has delayed speech development, but this is being addressed with a program called "Active English" within the school.

 

Karien

In Mei maand 1998, het ek agtergekom ek is swanger. Terwyl ek my ouers gehelp het om vleis te bewerk, wat ek so gereeld gedoen het, het ek skielik siek gevoel. Dit was ‘n snaakse onbeskryflike gevoel. Met my hele swangerskap kon ek glad nie die reuk van rou vleis hanteer nie, of selfs vleis eet nie. As gevolg daarvan het ek baie gewig verloor met die eerste termyn van my swangerskap.

Die geboortedatum van my eersteling is bepaal vir die 16de Januarie 1999, maar sy het haar verskyning op die 28ste Desember 1998, 9h25 die Maandagoggend gemaak, nadat ek normaal gekraam het. Drie dae later word ons tweetjies saam ontslaan. Teen die Vrydag, nadat ek normaal voed, wou Karien nie meer voed nie en het die heeltyd geslaap. Ek het gedink ek het die soetste babadogtertjie. My moeder wat my kom ondersteun het met my eersteling het daardie aand vir my gesê dat iets nie pluis is nie. Sy het gesê, as die baba gebad is, moet sy lekker ruik nadat sy gepoeier is, maar my Karien het nie. Sy het heeltyd benoud geruik. Teen die Saterdag was my moeder onrustig. Karien het toe geelsug. Ons plaaslike dokter, Ockie Strydom, het ons kom besoek en vir my en klein Karien na ons buurdorp, Kareedow, se hospitaal gestuur.

Die Maandag was Karien ‘n week oud en sy word verplaas na Port Elizabeth se Greenacress Hospitaal waar ons pediater, Dave Purcase, praktiseer. Daar moet ek toekyk hoe bloedtoetse op my weekoue babatjie aanhoudend gedoen word. Haar hakke is bloedrooi soos hul naalde insteek. Later het hul haar armpies en nek ook vol naaldmerke gesteek. Ek het my byna doodgehuil om dit elke keer te aanskou. Dit het vir my gevoel my kind sterf en sy lyk dan so gesond. Met geen voeding wat sy binnehou nie, was ek raadop.

Na vyf dae in hospital het dokter gesê ons moet haar kom haal. Hy wag vir toetse en dit wat hul vir haar in hospitaal doen, kan ek by huis ook doen. Die Maandag, twee weke na Karien se geboorte, sit ek 11h00 die aand en sukkel om 25ml melk in haar lyfie te kry, met my man, Derick en moeder langs my. Ons pediater, Dr Dave Purchase, het ons toe geskakel op my man se selfoon. Hy wil met my praat. Nog voor ons praat het ek al gehuil, want hoekom bel hy so laat?

Isovaleriaansuururie (IVA), dis wat ons twee weke oue baba dogtertjie het. Ons moet die volgende dag vroeg in Port Elizabeth wees, wat 198 km van ons af is. So word Karien weer opgeneem in die hospitaal, maar hierdie keer weet ons waarvoor. Terwyl ons met die dieetkundige praat, het ek gewonder hoe 'n mens ‘n baba grootmaak sonder melk en ander proteïene?

Ek glo die verpleegster het my hartseer gesien en later die dag toe roep sy my eenkant. Sy mag nie uitpraat oor ander pasiënte nie, maar sy dink ek moet iemand kontak, kan ongelukkig nie meer die ouers onthou nie, nadat ons kontak verloor het. Die moeder se kind is 9 jaar oud met dieselfde siekte, maar het erge breinskade. Sy vertel my van ‘n melkproduk wat ingevoer word deur Wyth, naamlik S-14. Dis ‘n lae protein melk. So het ek die melk gekry en my kind daarop grootgemaak. My mediese fonds het dit aan begin teen 50% verskaf aan my. Mettertyd het die Wyth maatskappy dit gratis aan my verskaf, tot en met hul dit nie meer beskikbaar gehad het in Suid-Afrika nie.

My apteker verskaf Karien se L-karnitien en glisien supplementasie en my plaaslike dokter stuur gereeld materiaal na PLIEM (Potchefstroom laboratorium vir Aangebore Metaboliese Defekte), vir haar opvolgtoetse vir moniteringsdoeleindes. PLIEM is ook die Laboratorium in Potchefstroom wat Karien met Isovaleriaansuururie (IVA) gediagnoseer het en staan onder die hoof van Prof Japie Mienie. Ons laaste besoek was in 2011 by Dr Dave Purchase en hy was ongelooflik tevrede met Karien se ontwikkeling. Al haar opvolganalises vir moniteringsdoeleindes lyk goed en die dieet en terapie blyk baie effektief te wees.

Karien kom soos ‘n normale meisie voor en mense wat haar ontmoet sal nooit weet van haar siektetoestand (IVA) as mens dit nie vir hulle vertel nie.

 

Esparanza

This is the story about my little Angel from God.

My baby was born on a Thursday morning 9:10 - she was absolutely gorgeous, her doctors checked her out and said she was 100%. I was a first time mother and tried to breast feed my baby girl, but it wasn't very easy owing to the fact that I didn't know how much my baby was getting in and all of that. On the Saturday we were signed out of hospital and an old doctor came to check her out. I just had a gut feeling something was wrong with my little girl, but the doctor said it's just my imagination.

Esperanza came home and she was such a good baby, she slept the whole time and rarely cried. As I said before I was trying to breast feed her, but she didn't get much in, as I found later. When Esperanza was 6 days old she started breathing very rapidly during the night. I phoned the maternity department and they told me that I should put some salex in her nose. I tried that all night long but my baby was just flat and battled to breathe. My husband left for work that morning at about 6:30 and I decided to rather take her to the ER to have her looked at.

When we got there I was in for the shock of my life. My baby was completely dehydrated and she went into a coma. She also lost a whole lot of weight, when we left the hospital she was weighing about 3 kg, but when we went back she was only 2 kg - she lost an entire kilogram. The doctors didn't have much hope for my darling little girl. They did so many tests, more than I even want to think about, she was probed and prodded until eventually her doctor decided to do a metabolic screening test at 9 days of age. He also did a blood ammonia analysis which came back as 316, with normal ranging between 35-58, if I remember correctly. We got the tests back from Potch and it was confirmed my baby had Propionic Acidemia. It was as if we got a death sentence, her doctor told me he doesn't think she will make it past 3 months of age. We were in NICU for 39 days trying to get Esperanza to gain weight and trying to get her to drink. She needed to be fed special food that was very expensive and tasted like battery acid. We had so many doctors and dieticians trying to help us and finally we went home after 39 days with a very small baby that needed so much special attention.

My little girl was really battling to drink her bottle, she needed her special milk every 3 hours or she would go into a metabolic crisis and end up back in hospital. It took me 2 hours to give her about 60 ml of milk and as soon as she had the milk down, she would just bring it right up again. Esperanza was in and out of hospital at least 2 times a month. The hospital was like our second home. When I had to go back to work I just could not stand being away from her, there was no way that I could leave this baby with her special needs alone in a hospital room whenever she was sick.

When Esperanza was about 6 months old she was still wearing 0-3 month clothes, she was tiny due to the fact that she never kept in any of the nutrients she needed. We decided against the wishes of her pediatrician, to have a gastrostomy tube placed into my Angel’s tummy. We also wanted to have the placement of the g-tube done together with a Nissan Fandoplication - that's an anti-reflux operation - but the doctor didn’t want to listen to me. Only a few hours after her feeding tube was inserted, I poured her milk through the tube and it just came running out of her little mouth. A week after that we needed to have the Nissan operation done anyway. I must say to any parent that doesn't want to do this, please don't be scared, it really makes your life and the life of your baby much easier. I can go so far as to say it was the best thing we ever did for my little girl.

Esperanza still had her days that she got really sick, but with a propionic acidemia baby, that's part of life. We tried keeping any children far away from her to try and keep all the bugs away, as she did not have a healthy immune system.

Esperanza had very bad veins - whenever we had to go to hospital there was always a ton of blood tests that needed to be done and obviously they needed to get a drip up, but it always took them at least an hour or two. It broke my heart having to see how my baby was suffering. Esperanza was an absolute little Angel, she loved to listen to CD's of Christian music. Esperanza's milestones were all a little delayed due to the fact that she was in hospital at least once a month, and she had a little brain damage. Esperanza was a very happy child and always ready with a smile, it doesn't matter if she has just been probed and prodded or whatever happened to hurt her, she would always have a smile for her mommy. Esperanza went to a whole lot of speech therapists to try and get her to eat something, it was impossible for me to get her to eat anything. She also went to physiotherapists to try to get her to crawl. Esperanza started walking 2 January 2007, she was almost 20 months old. It was one of the happiest days of my life. She never really talked much, the only words she said was Mamma, Pappa, Oupa and Ouma and Do - that was for her little cousin Riccardo.

Esperanza had a metabolic crisis accompanied by high ketones the last time she went into hospital. Normally I would just give her a couple of shots of 1/2 Darrows and her ketones would go down again, but not this time. I took her in to see her pediatrician but he was on his way to Germany, so we had to see his locum doctor. Esperanza was admitted to the hospital, put on a drip and had a lot of tests done that came back negative - except one, they had found an E. coli in Esperanza's urine, an infection that probably made its way into bladder from her stools that was always mostly water. I asked around and everyone told me it's nothing to worry about, but I just had a feeling that it's not just nothing. If I could give anyone any advice, it would be that if you don't feel right about what a doctor, nurse or anyone tells you, please just tell them you want a second opinion. Maybe if I had just opened my mouth a bit more my little angel would still be here with me.

Our experience with the life of my little Angel was a hard, but very happy one. I would not exchange what I had with my little girl for anything on earth; she was the best thing that ever happened to me. I really miss my little girl and if there was something that I could do to bring her back I would do it, even if it meant for me to go through ten times worse than we have already gone through, but I know that my little girl is much better off in heaven where she does not have any more pain or worries.

Lots of love
Mariska & Deon van de Venter

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